Aliases &
Descriptions
for RAB39B gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase)
About This Section
|
| Aliases & Descriptions |
|---|
| RAB39B, member RAS oncogene family1 2 | | MRX722 5 | | ras-related protein Rab-39B2 |
Export aliases for RAB39B gene to outside databasesPrevious GC identifers: GC00U991112 GC0XM150941 GC0XM152004 GC0XM152909 GC0XM152900 GC0XM154051 GC0XM154140 GC0XM154487 |
Summaries
for RAB39B 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 RAB39B:
This gene encodes a member of the Rab family of proteins. Rab proteins are small GTPases that are involved in vesiculartrafficking. (provided by RefSeq)
UniProtKB/Swiss-Prot: RB39B_HUMAN, Q96DA2Function: May be involved in vesicular trafficking. Play a role in synapse formation (By similarity)
Gene Wiki entry for RAB39B |
Genomic Views
for RAB39B 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 RAB39B gene promoter:
ZID E47 POU2F2C POU2F2B POU2F2 (Oct-2.1) POU2F2 POU2F1 oct-B3 oct-B2 Oct-B1
Other transcription factors
Search SABiosciences Chromatin IP Primers for RAB39B
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for RAB39B  |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: Xq28 Ensembl cytogenetic band: Xq28 HGNC cytogenetic band: Xq28RAB39B Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc gene densities for chromosome X GeneLoc Exon Structure GeneLoc location for GC0XM143031: view genomic region
(about GC identifiers)
Start:
|
143,031,379 bp from pter |
End:
|
143,037,440 bp from pter |
Size:
|
6,062 bases |
Orientation:
|
minus strand |
1 alternative location:
| ChrX- 154,487,526-154,493,874 |
RefSeq DNA sequence:- NC_000023.10 NT_167198.1
|
Proteins
for RAB39B 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: RB39B_HUMAN, Q96DA2 (See
protein sequence)Recommended Name: Ras-related protein Rab-39B Size: 213 amino acids; 24622 Da
Subcellular location: Cell membrane; Lipid-anchor; Cytoplasmic side (Potential). Golgi apparatus. Note=Partialcolocalization with markers that cycle from the cell surface to the trans-Golgi network (By similarity)
Secondary accessions: Q5JT79 Q8NEX3Explore the universe of human proteins at neXtProt for RAB39B: NX_Q96DA2
Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_741995.1
ENSEMBL proteins: ENSP00000358466
Human Recombinant Proteins
4 Gene Ontology (GO) cellular component terms (GO ID links to tree view): About this table
RAB39B for ontologies About GeneDecksing
Antibodies for RAB39B:
Assays for RAB39B: |
Protein
Domains/
Families
for RAB39B gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
RAB39B for domains About GeneDecksing
5 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q96DA2ProtoNet protein and cluster: Q96DA2 1 Blocks protein family: IPB001806 Transforming protein P21 RAS signature
UniProtKB/Swiss-Prot: RB39B_HUMAN, Q96DA2Similarity: Belongs to the small GTPase superfamily. Rab family |
Gene Function
for RAB39B 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: RB39B_HUMAN, Q96DA2Function: May be involved in vesicular trafficking. Play a role in synapse formation (By similarity)
4 Gene Ontology (GO) molecular function terms (GO ID links to tree view): About this table
RAB39B for ontologies About GeneDecksing
|
Pathways & Interactions
for RAB39B 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 RAB39B
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RAB39B
5/7 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 7): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006886 | intracellular protein transport |
-- | -- | | GO:0006913 | nucleocytoplasmic transport |
-- | -- | | GO:0007165 | signal transduction |
-- | -- | | GO:0007264 | small GTPase mediated signal transduction |
IEA | -- | | GO:0015031 | protein transport |
IEA | -- |
About this table
RAB39B for ontologies About GeneDecksing
|
Drugs & Compounds
for RAB39B 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 Tocris compounds for RAB39B
|
Transcripts
for RAB39B 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
|
REFSEQ mRNAs for RAB39B gene: NM_171998.2 Additional cDNA sequence: AK056209.1 AL834460.1 AY052478.1 BC009714.1 2 DOTS entries: DT.308598 DT.121283435 24/67 AceView cDNA sequences (see all 67): BU634476 AI022744 AA744827 BM677208 AK056209 CK819082 AA804525 AL834460 BX419147 BE503571 AA356937 AI929317 BX108796 BC009714 BM069764 AA705288 NM_171998 BM069528 BM054834 BM721593 AW015673 AA805699 BE908946 AI218721
 highest scoring ESTs for RAB39B:AA282024 AA744827 AA807544 AI057628 AI929317 AL834460 AW452095 AY052478 BC009714 BE908946 Unigene Cluster for RAB39B: RAB39B, member RAS oncogene family Hs.632832 [show with all ESTs]Unigene Representative Sequence: NM_171998
GeneLoc Exon Structure
1 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000369454(uc004fne.2)
|
Expression
for RAB39B 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
| RAB39B expression in normal and diseased human tissues
1 / 2 / 3 7 probe-sets matching RAB39B gene
Affymetrix
probe-set |
Array |
GeneAnnot data |
GeneNote data |
GeneTide data |
| # genes |
Sensitivity |
Specificity |
Correlation |
Length |
Gb_Accession |
Consensus |
Uniqueness |
Score |
Rank |
| 61352_at2, 3
|
U95-C |
1 |
0.88 |
1.00 |
0.95 |
1.25 |
AI057628 |
0.80 |
1.00 |
0.91 |
1 |
| 75526_at2, 3
|
U95-E |
1 |
0.69 |
1.00 |
0.82 |
1.05 |
AA744827 |
0.80 |
1.00 |
0.91 |
1 |
| 58091_at2, 3
|
U95-B |
1 |
0.50 |
1.00 |
0.90 |
0.73 |
AA807544 |
0.80 |
1.00 |
0.91 |
1 |
| 238695_s_at2, 3
|
U133-B |
1 |
0.73 |
1.00 |
-- |
-- |
AW960289 |
0.60 |
1.00 |
0.82 |
1 |
| 230075_at2, 3
|
U133-B |
1 |
0.73 |
1.00 |
-- |
-- |
AV724323 |
0.60 |
1.00 |
0.82 |
1 |
| 238695_s_at2
|
U133Plus2 |
1 |
0.73 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 230075_at2
|
U133Plus2 |
1 |
0.73 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
About this table
RAB39B for expression About GeneDecksing
Data from
Genenote
(Publications) and GNF BioGPS
About these images
About these images
CGAP SAGE TAG: TTGGATTAGA
SOURCE GeneReport for Unigene cluster: Hs.632832
UniProtKB/Swiss-Prot: RB39B_HUMAN, Q96DA2Tissue specificity: Highly expressed in the brain
SABiosciences Custom PCR Arrays for RAB39B
|
Orthologs
for RAB39B 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 RAB39B gene from 5/8 species (see all 8)
About this table Species with no ortholog for RAB39B
ENSEMBL Gene Tree for RAB39B (if available) |
Paralogs
for RAB39B gene(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
| Paralogs for RAB39B gene
- RAB252 RAB422 RAB11A2 RAB392 RAB42P12 RAB11B2
RAB39B for paralogs About GeneDecksing
|
Genomic Variants
for RAB39B 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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Chr X pos | Sequence | Recs | AA
Chg | Type | More | Recs | Allele
freq | Pop | Total
sample | More |
|---|
About this tableHapMap Linkage Disequilibrium images for RAB39B (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for RAB39B
2 CNVs: 103296 23331 |
Disorders & Mutations
for RAB39B gene
(in which this Gene is Involved, According to
OMIM, UniProtKB,
PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
LSDB, HGMD, GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
RAB39B for disorders About GeneDecksing
OMIM: 300774 disorders: 300271 UniProtKB/Swiss-Prot: RB39B_HUMAN, Q96DA2
Defects in RAB39B are the cause of mental retardation X-linked type 72 (MRX72) [MIM:300271]. Mentalretardation is characterized by significantly below average general intellectual functioning associated withimpairments in adaptative behavior and manifested during the developmental period. MRX72 patients can manifest autismspectrum disorder, seizures and macrocephaly as additional featuresLocus Specific Mutation Databases (LSDB): RAB39B
Human Gene Mutation Database (HGMD): RAB39B
Export disorders and mutations for RAB39B gene to outside databases
|
Medical News
for RAB39B gene(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications
for RAB39B 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
|
10/13 PubMed articles for RAB39B gene, integrated from 7 sources (see all 13):
(articles sorted by number of sources associating them with RAB39B)- Isolation and characterization of a human novel RAB (RAB39B) gene. (PubMed id 12438742)1, 2, 3 Cheng H.... Mao Y. (2002)
- Mutations in the small GTPase gene RAB39B are respons ible for X-linked mental retardation associated with autism, epilepsy, and macr ocephaly. (PubMed id 20159109)1, 2 Giannandrea M....D'Adamo P. (2010)
- The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
- 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)
- Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
- The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
- The LIFEdb database in 2006. (PubMed id 16381901)1 Mehrle A....Wiemann S. (2006)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
- From ORFeome to biology: a functional genomics pipeline. (PubMed id 15489336)1 Wiemann S....Poustka A. (2004)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
|
External Searches for RAB39B gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing RAB39B gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing RAB39B gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing RAB39B 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
|
|
About This Section
| Patent Information for RAB39B gene:
Search GeneIP for patents involving RAB39B
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for RAB39B 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
|
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