MARVELD2 Gene
protein-coding GIFtS: 49
GC05P065667
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MARVEL domain containing 2
(Previous names: MARVEL (membrane-associating) domain containing 2, deafness, autosomal recessive 49 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: MRVLDC2, DFNB49)
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Aliases &
Descriptions
for MARVELD2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase)
About This Section
|
| Aliases & Descriptions |
|---|
| MARVEL domain containing 21 2 | | MARVEL domain-containing protein 22 | | TRIC1 3 5 | | OTTHUMP000002222252 | | FLJ305321 2 | | Tric2 | | MARVEL (membrane-associating) domain containing 21 2 | | MRVLDC22 | | DFNB492 5 | | tricellulin2 | | MARVD22 5 | | Tricellulin3 | | deafness, autosomal recessive 491 | | |
Export aliases for MARVELD2 gene to outside databasesPrevious GC identifer: GC05P068746 |
Summaries
for MARVELD2 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 MARVELD2:
Tight junctions (TJ) prevent leakage of solutes through the paracellular pathway of epithelial cells. MARVELD2, ortricellulin (TRIC), is an integral membrane protein concentrated at the vertically oriented TJ strands of tricellularcontacts (Ikenouchi et al., 2005 (PubMed 16365161)).(supplied by OMIM)
UniProtKB/Swiss-Prot: MALD2_HUMAN, Q8N4S9Function: Plays a role in the formation of the epithelial barriers. The separation of the endolymphatic andperilymphatic spaces of the organ of Corti from one another by epithelial barriers is required for normal hearing
Gene Wiki entry for MARVELD2 |
Genomic Views
for MARVELD2 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 MARVELD2 gene promoter:
CUTL1 FAC1 POU2F1 HOXA9B Meis-1 AREB6 MZF-1 ATF-2 Pax-5 POU3F2
Other transcription factors
Search SABiosciences Chromatin IP Primers for MARVELD2
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: 5q13.2 Ensembl cytogenetic band: 5q13.2 HGNC cytogenetic band: 5q13.1MARVELD2 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 5 GeneLoc Exon Structure GeneLoc location for GC05P065667: view genomic region
(about GC identifiers)
Start:
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65,667,182 bp from pter |
End:
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65,694,144 bp from pter |
Size:
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26,963 bases |
Orientation:
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plus strand |
2 alternative locations:
| Chr5+,PATCHES 69,103,528-69,130,025 | Chr5+ 68,710,939-68,740,157 |
RefSeq DNA sequence:- NC_000005.9 NT_006713.15
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Proteins
for MARVELD2 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
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UniProtKB/Swiss-Prot: MALD2_HUMAN, Q8N4S9 (See
protein sequence)Recommended Name: MARVEL domain-containing protein 2 Size: 558 amino acids; 64180 Da
Subcellular location: Cell membrane; Multi-pass membrane protein. Cell junction, tight junction (By similarity).Note=Found at tricellular contacts (By similarity)
Secondary accessions: A1BQX0 A1BQX1 A8KA97 Q96NM9Alternative splicing: 3 isoforms: Q8N4S9-1 Q8N4S9-2 Q8N4S9-3 Explore the universe of human proteins at neXtProt for MARVELD2: NX_Q8N4S9
Post-translational modifications:
Phosphorylated upon DNA damage, probably by ATM or ATR1
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_001033692.2
ENSEMBL proteins: ENSP00000282886 ENSP00000423490 ENSP00000323264 ENSP00000421902 ENSP00000396244 ENSP00000414776 ENSP00000398922
Human Recombinant Proteins
4 Gene Ontology (GO) cellular component terms (GO ID links to tree view): About this table
MARVELD2 for ontologies About GeneDecksing
Antibodies for MARVELD2:
Assays for MARVELD2: |
Protein
Domains/
Families
for MARVELD2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
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MARVELD2 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q8N4S9ProtoNet protein and cluster: Q8N4S9 2 Blocks protein families: IPB008253 Marvel IPB010844 Occludin and RNA polymerase II elongation factor ELL
UniProtKB/Swiss-Prot: MALD2_HUMAN, Q8N4S9Similarity: Contains 1 MARVEL domain |
Gene Function
for MARVELD2 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: MALD2_HUMAN, Q8N4S9Function: Plays a role in the formation of the epithelial barriers. The separation of the endolymphatic andperilymphatic spaces of the organ of Corti from one another by epithelial barriers is required for normal hearing
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Pathways & Interactions
for MARVELD2 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 MARVELD2
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MARVELD2
1 Gene Ontology (GO) biological process term (GO ID links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0007605 | sensory perception of sound |
IEA | -- |
About this table
MARVELD2 for ontologies About GeneDecksing
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Drugs & Compounds
for MARVELD2 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 MARVELD2
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Transcripts
for MARVELD2 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
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REFSEQ mRNAs for MARVELD2 gene: NM_001038603.2 Additional cDNA sequence: AB219936.1 AB219937.1 AK055094.1 AK292962.1 BC033689.1 DQ682656.1 DQ682657.1 DQ682658.1 7 DOTS entries: DT.91756161 DT.109014 DT.406580 DT.120855077 DT.86858008 DT.91994457 DT.92050085 24/65 AceView cDNA sequences (see all 65): W38683 BQ023768 CB069146 AA902629 W44766 BE549594 AI023974 AI288538 BC033689 BM766345 AA524190 AA704297 CB069382 AI355645 AI052428 R71698 NM_144724 BE090154 BF222447 AI283471 AK055094 BE081398 BX092467 BG285087
 highest scoring ESTs for MARVELD2:AA902629 AI140740 AI283471 AI288538 AI355645 AW948876 BC033689 BE090154 BF222447 BG285087 Unigene Cluster for MARVELD2: MARVEL domain containing 2 Hs.726520 [show with all ESTs]Unigene Representative Sequence: AK055094
GeneLoc Exon Structure
7 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000282886 ENST00000512803 ENST00000325631(uc003jwq.2 uc010ixf.2)
ENST00000515844 ENST00000454295(uc003jws.1) ENST00000436532 ENST00000413223(uc003jwr.1)
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Expression
for MARVELD2 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
| MARVELD2 expression in normal and diseased human tissues
1 / 2 / 3 5 probe-sets matching MARVELD2 gene
Affymetrix
probe-set |
Array |
GeneAnnot data |
GeneNote data |
GeneTide data |
| # genes |
Sensitivity |
Specificity |
Correlation |
Length |
Gb_Accession |
Consensus |
Uniqueness |
Score |
Rank |
| 42522_at2, 3
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U95-B |
1 |
0.88 |
1.00 |
1.00 |
1.00 |
N57927 |
0.60 |
1.00 |
0.82 |
1 |
| 235955_at2, 3
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U133-B |
1 |
1.00 |
1.00 |
-- |
-- |
N57927 |
0.60 |
1.00 |
0.82 |
1 |
| 235141_at2, 3
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U133-B |
1 |
0.46 |
1.00 |
-- |
-- |
AW009562 |
0.60 |
0.75 |
0.68 |
1 |
| 235955_at2
|
U133Plus2 |
1 |
1.00 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 235141_at2
|
U133Plus2 |
1 |
0.46 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
About this table
MARVELD2 for expression About GeneDecksing
Data from
Genenote
(Publications) and GNF BioGPS
About these images
About these images
CGAP SAGE TAG: AGGCCCCTTA
SOURCE GeneReport for Unigene cluster: Hs.726520
SABiosciences Custom PCR Arrays for MARVELD2
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Orthologs
for MARVELD2 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
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Orthologs for MARVELD2 gene from 5/8 species (see all 8)
About this table Species with no ortholog for MARVELD2
ENSEMBL Gene Tree for MARVELD2 (if available) |
Paralogs
for MARVELD2 gene(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
| Paralogs for MARVELD2 gene
- ELL32 OCEL12 ELL22 ELL2
MARVELD2 for paralogs About GeneDecksing
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Genomic Variants
for MARVELD2 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
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| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Chr 5 pos | Sequence | Recs | AA
Chg | Type | More | Recs | Allele
freq | Pop | Total
sample | More |
|---|
About this tableHapMap Linkage Disequilibrium images for MARVELD2 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for MARVELD2
2 CNVs: 99169 0283
2 Indels: 62384 46913 | | QIAGEN SeqTarget long-range PCR primers for resequencing MARVELD2 |
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Disorders & Mutations
for MARVELD2 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
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MARVELD2 for disorders About GeneDecksing
OMIM: 610572 disorders: 610153 UniProtKB/Swiss-Prot: MALD2_HUMAN, Q8N4S9
Defects in MARVELD2 are the cause of deafness autosomal recessive type 49 (DFNB49) [MIM:610153]. DFNB49 is aform of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the innerear, the nerve pathways to the brain, or the area of the brain that receives sound informationHuman Gene Mutation Database (HGMD): MARVELD2
Export disorders and mutations for MARVELD2 gene to outside databases
|
Medical News
for MARVELD2 gene(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications
for MARVELD2 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
|
10/33 PubMed articles for MARVELD2 gene, integrated from 7 sources (see all 33):
(articles sorted by number of sources associating them with MARVELD2)- Tricellulin is a tight-junction protein necessary for hearing. (PubMed id 17186462)1, 2, 3, 7 Riazuddin S.... Friedman T.B. (2006)
- Tricellulin constitutes a novel barrier at tricellular contacts of epithelial cells. (PubMed id 16365161)1, 2, 7 Ikenouchi J.... Tsukita S. (2005)
- Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
- Time-resolved mass spectrometry of tyrosine phosphorylation sites in the epidermal growth factor receptor signaling network reveals dynamic modules. (PubMed id 15951569)1, 2 Zhang Y.... White F.M. (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)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Tight junction-associated MARVEL proteins marveld3, t ricellulin, and occludin have distinct but overlapping functions. (PubMed id 20164257)1, 7 Raleigh D.R....Turner J.R. (2010)
- Tricellulin forms a barrier to macromolecules in tric ellular tight junctions without affecting ion permeability. (PubMed id 19535456)1, 7 Krug S.M....Fromm M. (2009)
- Expression and localization of tricellulin in human n asal epithelial cells in vivo and in vitro. (PubMed id 20033365)1, 7 Ohkuni T....Sawada N. (2009)
- Splice-site mutations in the TRIC gene underlie autosomal recessive nonsyndromic hearing impairment in Pakistani families. (PubMed id 18084694)1, 7 Chishti M.S....Ahmad W. (2008)
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External Searches for MARVELD2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
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Genome Databases showing MARVELD2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
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Other Databases showing MARVELD2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing MARVELD2 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
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About This Section
| Patent Information for MARVELD2 gene:
Search GeneIP for patents involving MARVELD2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for MARVELD2 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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