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GJB4 Gene

protein-coding   GIFtS: 48

GC01P033342
gap junction protein, beta 4, 30.3kDa
(Previous names: gap junction protein, beta 4 (connexin 30.3), gap junction protein, beta 4 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Products    

Aliases &
Descriptions
for GJB4 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section
Aliases & Descriptions
gap junction protein, beta 4, 30.3kDa1 2     MGC211162
CX30.31 2 5     OTTHUMP000000041852
gap junction protein, beta 41     gap junction beta-4 protein2
gap junction protein, beta 4 (connexin 30.3)1     connexin-30.32
EKV2     Connexin-30.33
connexin 30.32     Cx30.33

External Ids:    HGNC: 42861   Entrez Gene: 1275342   Ensembl: ENSG000001894337   UniProtKB: Q9NTQ93   

Export aliases for GJB4 gene to outside databases

Previous GC identifers: GC01U990071 GC01P034281 GC01P034651 GC00M9U0070 GC01P034894 GC01P034997 GC01P034999 GC01P035225


Summaries
for GJB4 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for GJB4:
This gene encodes a transmembrane connexin protein that is a component of gap junctions. Mutations in this gene have
been associated with erythrokeratodermia variabilis, progressive symmetric erythrokeratoderma and hearing impairment.
(provided by RefSeq)

UniProtKB/Swiss-Prot: CXB4_HUMAN, Q9NTQ9
Function: One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons,
through which materials of low MW diffuse from one cell to a neighboring cell

summary for GJB4:
Gap channels (also known as gap junctions) are specalized cell-cell contacts between almost all eukaryotic
cells that provide direct intracellular communication. Generally, gap channels allow the passive diffusion
of molecules up to 1 kDa which includes nutrients, small metabolites (e.g. glucose), ions (K+, Ca2+) and
second messengers (IP3, cAMP and cGMP). Gap channels allow electrical and biochemical coupling between cells
and in excitable tissues, such as neurons and the heart, enables the generation of synchronized and rapid
responses. Structurally, gap channels are composed of two hemichannels called 'connexons', which themselves
are formed from six connexin molecules. Homo- and heteromeric combinations are seen, which exhibit distinct
permeability, selectivity and functional properties. Pannexins are related to connexins and can also form
gap junctions. However, their expression is limited to the brain. Furthermore, in nonchordate animals a
family of proteins called innexins form these channels. Gap channels are regulated through
post-translational modifications of the C'-terminal cytoplasmic tail and phosphorylation modulates assembly
and their physiological properties. They are continuously synthesized and degraded, allowing tissues to
rapidly adapt to changing environmental conditions. Connexins play a key role in many physiological
processes including cardiac and smooth muscle contraction, regulation of neuronal excitability, epithelial
electrolyte transport and keratinocyte differentiation. Mutations in connexin genes are associated with
human diseases including sensorineural deafness, a variety of skin disorders, peripheral neuropathy and
cardiovascular disease.

Gene Wiki entry for GJB4

Genomic Views
for GJB4 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GJB4 gene promoter:
         ARP-1   Pax-2   FOXD1   Max   c-Myc   SREBP-1b   SREBP-1c   SREBP-1a   LCR-F1   USF1   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for GJB4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p34.3   Ensembl cytogenetic band:  1p34.3   HGNC cytogenetic band: 1p35-p34

GJB4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GJB4 gene location

GeneLoc gene densities for chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P033342:  view genomic region     (about GC identifiers)

Start:
 33,342,857 bp from pter
End:
 33,346,840 bp from pter
Size:
 3,984 bases
Orientation:
 plus strand

1 alternative location:
Chr1+ 35,225,342-35,229,325     
RefSeq DNA sequence:
NC_000001.10  NT_032977.9  

Proteins
for GJB4 gene

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section
UniProtKB/Swiss-Prot: CXB4_HUMAN, Q9NTQ9 (See protein sequence)
Recommended Name: Gap junction beta-4 protein  
Size: 266 amino acids; 30419 Da
Subunit: A connexon is composed of a hexamer of connexins
Subcellular location: Cell membrane; Multi-pass membrane protein. Cell junction, gap junction
Secondary accessions: B3KQ82

Explore the universe of human proteins at neXtProt for GJB4: NX_Q9NTQ9 

REFSEQ proteins: NP_694944.1  

ENSEMBL proteins: 
ENSP00000381117 ENSP00000345868 


Human Recombinant Proteins 
Browse Purified and Recombinant Proteins at Millipore
Browse Human Recombinant Proteins at Sigma-Aldrich
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
OriGene Purified Protein: GJB4
OriGene Protein Over-expression Lysate: GJB4
GenScript Custom Purified and Recombinant Proteins Services for GJB4 
Novus Biologicals Protein for GJB4
Novus Biologicals Lysates for GJB4
Browse Sino Biological Recombinant Proteins
Browse ProSpec Recombinant Proteins

5 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005886 plasma membrane IEA--
GO:0005921 gap junction NAS--
GO:0005922 connexon complex IEA--
GO:0016021 integral to membrane IEA--
GO:0030054 cell junction IEA--
About this table

GJB4 for ontologies           About GeneDecksing



Antibodies for GJB4: 
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for GJB4
Browse R&D Systems for Antibodies
Browse OriGene Antibodies
GenScript Custom Superior Antibodies Services for GJB4 
Novus Biologicals Antibodies for GJB4
Browse antibodies at Epitomics

Assays for GJB4: 
Browse Kits and Assays available from Millipore
Browse ELISAs at Sigma-Aldrich
OriGene Custom Immunoassay Development 
Browse OriGene Fluorogenic Cell Assay Kits 
Browse R&D Systems for biochemical assays
GenScript Custom Assay Services for GJB4 
Browse Enzo Life Sciences for kits & assays
Browse ELISAs and CLIAs at Uscn 

Protein Domains/
Families
for GJB4 gene

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
GJB4 for domains           About GeneDecksing

5 InterPro domains/families:
 IPR000500 Connexin
 IPR019570 Connexin_CCC
 IPR013092 Connexin_N
 IPR002271 Connexin303
 IPR017990 Connexin_CS

Graphical View of Domain Structure for InterPro Entry Q9NTQ9

ProtoNet protein and cluster: Q9NTQ9

2 Blocks protein families:
IPB002271 Gap junction beta-5 protein (Cx30.3) signature
IPB013092 Connexin


UniProtKB/Swiss-Prot: CXB4_HUMAN, Q9NTQ9
Similarity: Belongs to the connexin family. Beta-type (group I) subfamily


Gene Function
for GJB4 gene

(According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
About This Section

UniProtKB/Swiss-Prot: CXB4_HUMAN, Q9NTQ9
Function: One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons,
through which materials of low MW diffuse from one cell to a neighboring cell

Inhib.
RNA:    		Browse for Gene Knock-down Tools from Millipore
Browse Nano Scale siRNA at Sigma-Aldrich
Sigma-Aldrich siRNA Panels and esiRNA and siRNA for GJB4
Sigma-Aldrich shRNA for GJB4
OriGene 29mer shRNA kits in GFP-retroviral vector: GJB4
OriGene shRNA RFP: GJB4
OriGene basic RS shRNA: GJB4
OriGene siRNA: GJB4
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of GJB4 
miRNA:Browse microRNA Mimics at Sigma-Aldrich
Browse microRNA target validation systems at Sigma-Aldrich 
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of GJB4 
Search SABiosciences for Assays for microRNAs that regulate GJB4

Gene
Editing:		Browse CompoZr Knockout ZFN at Sigma-Aldrich 

Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
Browse iPSC Reprogramming Factors at Sigma-Aldrich
OriGene GFP tagged cDNA clones in CMV expression vector: GJB4
OriGene Myc/DDK tagged cDNA clones in CMV expression vector: GJB4
OriGene untagged cDNA clones in CMV expression vector: GJB4
Browse 3'-UTR reporter clones for miRNA target validation 
Browse MicroRNA Expression Plasmids 
GenScript Custom cDNA clone Services for GJB4 
Browse Sino Biological Human cDNA Clones

Cell
Lines:  		GenScript Custom overexpressing Cell Line Services for GJB4 

1 Gene Ontology (GO) molecular function term (GO ID links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005243 gap junction channel activity NAS--
About this table

GJB4 for ontologies           About GeneDecksing

Animal Models: 1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Gjb4):

taste/olfaction

GJB4 for phenotypes           About GeneDecksing


Pathways & Interactions
for GJB4 gene

(Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
About This Section

    SABiosciences Custom Pathway-Focused PCR Arrays for GJB4 

    SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GJB4

5 Interacting proteins for GJB4 (ENSP000003458683) via UniProtKB, MINT, and/or STRING
InteractantInteraction Details
GeneCardExternal ID(s)
MAPK3ENSP000002630253STRING: ENSP00000263025
BCL2ENSP000003296233STRING: ENSP00000329623
CABP2ENSP000002942883STRING: ENSP00000294288
CLDN10ENSP000002993393STRING: ENSP00000299339
MAPK1ENSP000002158323STRING: ENSP00000215832
About this table

3 Gene Ontology (GO) biological process terms (GO ID links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0007154 cell communication NAS--
GO:0007608 sensory perception of smell ----
GO:0042048 olfactory behavior ----
About this table

GJB4 for ontologies           About GeneDecksing



Drugs & Compounds
for GJB4 gene

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section
Browse Small Molecules at Sigma-Aldrich
Browse drugs & compounds from Enzo Life Sciences

Compounds for GJB4 available from Tocris Bioscience
CompoundAction CAS number
Gap 26Gap junction blocker; inhibits smooth muscle contraction and IP3-mediated ATP release[197250-15-0]
Gap 27Selective gap junction blocker[198284-64-9]
About this table




Transcripts
for GJB4 gene

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Millipore,
siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
About This Section
Inhib.
RNA:     		Browse for Gene Knock-down Tools from Millipore
Browse Nano Scale siRNA at Sigma-Aldrich
Sigma-Aldrich siRNA Panels and esiRNA and siRNA for GJB4
Sigma-Aldrich shRNA for GJB4
OriGene 29mer shRNA kits in GFP-retroviral vector: GJB4
OriGene shRNA RFP: GJB4
OriGene basic RS shRNA: GJB4
OriGene siRNA: GJB4
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of GJB4 
miRNA: Browse microRNA Mimics at Sigma-Aldrich
Browse microRNA target validation systems at Sigma-Aldrich 
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of GJB4 
Search SABiosciences for Assays for microRNAs that regulate GJB4
Clones: Browse FLAG tag genes at Sigma-Aldrich
OriGene GFP tagged cDNA clones in CMV expression vector: GJB4
OriGene Myc/DDK tagged cDNA clones in CMV expression vector: GJB4
OriGene untagged cDNA clones in CMV expression vector: GJB4
Browse 3'-UTR reporter clones for miRNA target validation 
Browse OriGene MicroRNA Expression Plasmids 
GenScript Custom cDNA clone Services for GJB4 
Primers: OriGene genome-wide validated SYBR primer pairs: GJB4
Browse OriGene validated miRNA SYBR primer pairs 
SABiosciences RT2 qPCR Primer Assay for GJB4: PPH02498A

REFSEQ mRNAs for GJB4 gene: 

NM_153212.2  

Additional cDNA sequence: 

AK057628.1 BC034709.1 

1 DOTS entry:

DT.91806925 

6 AceView cDNA sequences:

AK057628 BX284064 NM_153212 BC034709 BG675316 BV185487 

highest scoring ESTs for GJB4:

AK057628 BC034709 BG675316 BX284064 NM_153212 BE140729 CV029315 CV574426 DB194719 DB347980 

Unigene Cluster for GJB4:

Gap junction protein, beta 4, 30.3kDa
Hs.351203  [show with all ESTs]
Unigene Representative Sequence: AK057628


GeneLoc Exon Structure

2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000398037 ENST00000339480(uc001bxw.3 uc001bxv.1)

Expression
for GJB4 gene

(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Primers from OriGene and/or SABiosciences )
About This Section

GJB4 expression in normal and diseased human tissues

1  / 2

2 probe-sets matching GJB4 gene

Affymetrix
probe-set		 Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
216579_at*2 U133-A NULL 0.00 0.00 -- -- -- -- -- -- --
216579_at*2 U133Plus2 NULL 0.00 0.00 -- -- -- -- -- -- --
About this table
Data from Genenote  (Publications) and GNF BioGPS
    About these images
GJB4 gene expression
GJB4 gene electronic northern expression
GJB4 gene sage expression
About these images

CGAP SAGE TAG: AGGCCACCCA

SOURCE GeneReport for Unigene cluster: Hs.351203
Primers: OriGene genome-wide validated SYBR primer pairs: GJB4
Browse OriGene validated miRNA SYBR primer pairs 
SABiosciences RT2 qPCR Primer Assay for GJB4: PPH02498A
    SABiosciences Custom PCR Arrays for GJB4 


Orthologs
for GJB4 gene

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section
Orthologs for GJB4 gene from 4 species
Organism Gene Locus Description Human
Similarity		 NCBI accessions
dog
(Canis familiaris)		 GJB41   -- gap junction protein, beta 4, 30.3kDa 86.72(n)
88.35(a)		 482487  XM_539604.1  XP_539604.1 
rat
(Rattus norvegicus)		 Gjb41   -- gap junction protein, beta 4 84.65(n)
86.79(a)		 117055  NM_053984.1  NP_446436.1 
mouse
(Mus musculus)		 Gjb41 , 5 4 (61.51 cM)5
 gap junction protein, beta 41, 5 83.21(n)1
86.47(a)1		 146211  NM_008127.31  NP_032153.11 
 AK0764085  AK1324685  (see all 7)
zebrafish
(Danio rerio)		 cx34.41   -- connexin 34.4 68.22(n)
70.23(a)		 404727  NM_207169.1  NP_997052.1 
About this table        Species with no ortholog for GJB4

ENSEMBL Gene Tree for GJB4 (if available)

Paralogs
for GJB4 gene

(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
Paralogs for GJB4 gene
GJB32  GJB52  GJB62  GJB22  GJB72  GJB12  

GJB4 for paralogs           About GeneDecksing



Genomic Variants
for GJB4 gene

(SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section

10/71 NCBI SNPs in GJB4 are shown (see all 71)
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidChr 1 posSequenceRecsAA
Chg		TypeMoreRecsAllele
freq		PopTotal
sample		More
----------
rs7559311,2
C,F,O,A,35227673(+) AGCAGA/GTAAGA 2 -- ut31 ese312Minor allele frequency- G:0.15NS EA NA WA 2398
rs10613491,2
C,F,35223881(+) CAGACG/ACTCTG 1 -- ng519Minor allele frequency- A:0.31NA MN WA 406
rs11239741,2
C,F,35228693(+) ATTCAC/ACCAGC 1 -- ut31 ese34Minor allele frequency- A:0.08MN NA WA 416
rs15700971,2
--35229171(-) ACTTAA/GAGAGA 1 -- ut310--------
rs19852831,2
C,F,35228604(+) CATACC/TCGCCA 1 -- ut31 ese33Minor allele frequency- T:0.32NA WA 124
rs19981771,2
C,F,O,35226256(-) CCAGAG/ACAATC 1 -- int15Minor allele frequency- A:0.45NA WA 128
rs19981781,2
C,F,35226251(-) ACAATC/GTGCAT 1 -- int11Minor allele frequency- G:0.26EA 88
rs20931851,2
C,F,O,A,35224312(-) ACAGGC/ACTAAA 1 -- ng5197Minor allele frequency- A:0.48NS EA PA EU CA WA NA 6118
rs28847481,2
--35227824(+) TTTGGG/TCCCTG 2 -- ut31 ese30--------
rs37383451,2
C,F,35223345(+) TTCAAG/AGCGAG 1 -- ng5123Minor allele frequency- A:0.17EA NA NS WA 3082
About this table

HapMap Linkage Disequilibrium images for GJB4 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
      Database of Genomic Variants (DGV) variations for GJB4: --

QIAGEN SeqTarget long-range PCR primers for resequencing GJB4 

Disorders & Mutations
for GJB4 gene

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
About This Section
GJB4 for disorders           About GeneDecksing

OMIM: 605425   disorders: 133200  

UniProtKB/Swiss-Prot: CXB4_HUMAN, Q9NTQ9

  • Defects in GJB4 are a cause of erythrokeratodermia variabilis (EKV) [MIM:133200]. EKV is a genodermatosis
    • characterized by the appearance of two independent skin lesions: transient figurate erythematous patches and
    hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies
    significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of
    cases

    2 Novoseek disease relationships for GJB4 gene

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    erythrokeratodermia variabilis 98 6 12648223 (4), 14583444 (1), 16280295 (1)
    skin diseases 59 5 16297190 (1), 11933201 (1), 19283857 (1)
    About this table

    Human Gene Mutation Database (HGMD): GJB4
    Human Genome Epidemiology (HuGE) Navigator: GJB4 (3 documents)

    Export disorders and mutations for GJB4 gene to outside databases

    Medical News
    for GJB4 gene

    (Possibly Related Articles in Doctor's Guide)
    About This Section
    		   --

    Publications
    for GJB4 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
    About This Section

    10/28 PubMed articles for GJB4 gene, integrated from 7 sources (see all 28):
    (articles sorted by number of sources associating them with GJB4)
    1. A common frameshift mutation and other variants in GJB4 (connexin 30.3): analysis of hearing impairment families. (PubMed id 11933201)1, 2, 7 Lopez-Bigas N.... Estivill X. (2002)
    2. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis. (PubMed id 11017804)1, 2 Macari F.... Huber M. (2000)
    6. Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations. (PubMed id 12648223)1, 7 Richard G....Uitto J. (2003)
    7. Clinical and genetic heterogeneity of erythrokeratoderma variabilis. (PubMed id 16297190)1, 7 Common J.E....Kelsell D.P. (2005)
    8. The missense mutation G12D in connexin30.3 can cause both erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of Gottron. (PubMed id 19291775)1, 7 van Steensel M.A....van Geel M. (2009)
    9. Molecular interaction of connexin 30.3 and connexin 31 suggests a dominant-negative mechanism associated with erythrokeratodermia variabilis. (PubMed id 14583444)1, 7 Plantard L....Hohl D. (2003)
    10. Prospective variants screening of connexin genes in c hildren with hearing impairment: genotype/phenotype correlation. (PubMed id 20593197)1 Yang J.J....Li S.Y. (2010)

    External Searches for GJB4 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing GJB4 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 127534 HGNC: 4286 AceView: GJB4 Ensembl:ENSG00000189433 euGenes: HUgn127534
    ECgene: GJB4 H-InvDB: GJB4

    Other Databases showing GJB4 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing GJB4 gene

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GJB4

    Intellectual Property
    for GJB4 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
    About This Section
    		Patent Information for GJB4 gene:
    Search GeneIP for patents involving GJB4

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    Products
    for GJB4 gene

    (Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
    Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or Enzo Life Sciences)
    About This Section

     Millipore Custom Antibody & Bulk Services
     Millipore Preclinical / Clinical Development Services
     Millipore Immunoassay Services
     Millipore Target Screening & Profiling Services

     Predesigned and custom siRNAs for GJB4 Antibodies for GJB4
     Super-pooled esiRNAs for GJB4 Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for GJB4 Browse microRNA Mimics at Sigma-Aldrich
     "Your Favorite Gene" Pathways and Molecular Interaction Networks Browse Nano Scale siRNA at Sigma-Aldrich
     Browse iPSC Reprogramming Factors at Sigma-Aldrich Browse small molecules at Sigma-Aldrich
     Browse FLAG tag genes at Sigma-Aldrich Browse ELISAs at Sigma-Aldrich
     Browse microRNA Target Validation Systems at Sigma-Aldrich Browse CompoZr Knockout ZFN at Sigma-Aldrich
    feedback
      
     Antibodies   Cell Culture Products  
     ELISAs   Flow Cytometry Kits  
     Primer Pairs   Kinase Activity Assays/Reagents  
     ELISpot Kits/Development Modules   TFB/Immunoprecipitation Assays  
     Apoptosis Detection Kits/Reagents   Protease Activity Assays/Reagents  
     DNA Damage/Repair Kits/Reagents   Multiplex/Array Assay Kits/Reagents  
     Cell Selection/Detection Kits/Reagents   ELISA/Assay Development Kits/Reagents  
     Phosphatase Activity Assays/Reagents   Recombinant/Natural Proteins  
     Tagged/untagged cDNA clones
     Validated SYBR primer pairs
     Purified proteins from HEK293T cells
     Lysates
     Western blot validated antibodies
     shRNA in GFP-retroviral vector
     siRNA
     Custom Immunoassay Development
     Fluorogenic Cell Assay Kits
     miRNA Primers for qPCR Assays
     3' UTR Clones for miRNA Target Studies
     miRNA Expression Plasmids

         		 
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of GJB4
     SeqTarget long-range PCR primers for resequencing GJB4
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of GJB4
     GenScript Custom Purified and Recombinant Proteins Services for GJB4 GenScript Custom cDNA clones with any tag delivered in your preferred vector Services for GJB4
     GenScript Custom Assay Services for GJB4 GenScript Custom Superior Antibodies Services for GJB4
     GenScript Custom overexpressing Cell Line Services for GJB4 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in GJB4 promoter
     Search Chromatin IP Primers for GJB4
     RT2 qPCR Primer Assay for GJB4
     GNC Network for GJB4
     Search for Assays for microRNAs that regulate GJB4
     SABiosciences Custom PCR Arrays for GJB4
     Tocris compounds for GJB4
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     Antibodies for GJB4
     Proteins for GJB4
     Lysates for GJB4
     Browse antibodies at Epitomics
     Browse ProSpec Recombinant Proteins

     Browse ELISAs and CLIAs at Uscn
           

    GeneCards Homepage - Last full update: 31 Dec 2010 - Incremental updates: 9 Jan 2011 , 10 Jan 2011

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