GJB2 Gene
protein-coding GIFtS: 63
GC13M019659
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gap junction protein, beta 2, 26kDa
(Previous names: gap junction protein, beta 2, 26kD (connexin 26), gap junction protein, beta 2, 26kDa (connexin 26) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: DFNB1, DFNA3)
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Aliases &
Descriptions
for GJB2
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase)
About This Section
|
| Aliases |
|---|
| CX26 1, 2, 5 | | Connexin-26 3 | | Cx26 3 | | DFNA3 2 | | DFNA3A 2, 5 | | DFNB1 2 | | DFNB1A 2, 5 | | HID 2, 5 | | KID 2, 5 | | NSRD1 1, 2 | | OTTHUMP00000018093 2 | | OTTHUMP00000018094 2 | | PPK 2, 5 |
| | | Descriptions |
|---|
| connexin 26 2 | | gap junction protein beta 2 2 | | gap junction protein, beta 2, 26kD (connexin 26) 1, 2 | | gap junction protein, beta 2, 26kDa 2 | | gap junction protein, beta 2, 26kDa (connexin 26) 1 |
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Search outside databases for aliases for GJB2 genePrevious GC identifers: GC13M018741 GC13M014741 GC13M019691 GC13M018559 |
Summaries
for GJB2(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for GJB2:
This gene encodes a member of the gap junction protein family. The gap junctions were first
characterized by electron microscopy as regionally specialized structures on plasma membranes of
contacting adherent cells. These structures were shown to consist of cell-to-cell channels that
facilitate the transfer of ions and small molecules between cells. The gap junction proteins, also
known as connexins, purified from fractions of enriched gap junctions from different tissues
differ. According to sequence similarities at the nucleotide and amino acid levels, the gap
junction proteins are divided into two categories, alpha and beta. Mutations in this gene are
responsible for as much as 50% of pre-lingual, recessive deafness. [provided by RefSeq]
UniProtKB/Swiss-Prot: CXB2_HUMAN, P29033Function: 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 cellGene Wiki entry for GJB2 |
Genomic Location
for GJB2
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences)
About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
 Transcription factor binding sites upstream to the GJB2 gene 
Entrez Gene cytogenetic band: 13q11-q12 Ensembl cytogenetic band: 13q12.11 HGNC cytogenetic band: 13q11-q12GJB2 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 13 GeneLoc Exon Structure GeneLoc location for GC13M019659:
(about GC identifiers)
Start:
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19,659,605 bp from pter |
End:
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19,665,114 bp from pter |
Size:
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5,510 bases |
Orientation:
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minus strand |
RefSeq DNA sequence:- NC_000013.9 NT_024524.13
| Proteins
for GJB2
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: CXB2_HUMAN, P29033 (See
protein sequence)Recommended Name: Gap junction beta-2 protein Size: 226 amino acids; 26215 Da
Subunit: A connexon is composed of a hexamer of connexins
Subcellular location: Cell membrane; Multi-pass membrane protein. Cell junction, gap junction
PDB structure from  and Proteopedia  :1XIR (3D)
2ZW3 (3D)
Secondary accessions: Q508A5 Q508A6 Q5YLL0 Q5YLL1 Q5YLL4 Q6IPV5 Q86U88 Q96AK0 Q9H536 Q9NNY4REFSEQ proteins: NP_003995.2
ENSEMBL proteins: ENSP00000372295 ENSP00000372299
Human Recombinant Proteins  Browse Origene for full length recombinant human proteins expressed in human HEK293 cells
5/6 Gene Ontology (GO) cellular component terms (links to tree view) (see all 6
): About this table
Antibodies for GJB2:
Assays for GJB2: | Protein
Domains/
Families
for GJB2(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry P29033
ProtoNet protein and cluster: P29033 2 Blocks protein families: IPB002268 Gap junction beta-2 protein (Cx26) signature IPB013092 Connexin
UniProtKB/Swiss-Prot: CXB2_HUMAN, P29033Similarity: Belongs to the connexin family. Beta-type (group I) subfamily | Gene Function
for GJB2
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
| OriGene 29mer shRNA kit in GFP-retroviral vector: NM_004004
 Applied Biosystems Silencer® siRNAs for GJB2
 Sigma-Aldrich siRNA and siRNA Panels for GJB2
Sigma-Aldrich shRNA for GJB2
Explore Sigma-Aldrich super-pooled esiRNAs
OriGene GFP tagged cDNA clone in CMV expression vector: NM_004004
Myc/DDK tagged cDNA clone in CMV expression vector: NM_004004
untagged cDNA clone in CMV expression vector: NM_004004
Primers:  Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
OriGene genome-wide validated SYBR primer pairs: NM_004004
UniProtKB/Swiss-Prot: CXB2_HUMAN, P29033Function: 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 cellGenatlas biochemistry entry for GJB2:gap junction protein,beta 2,26kDa (connexin 26),expressed in the cochlea,weakly in the suprabasal
layer of the epidermis and in epithelial cells of the mammary gland and endometre,monomer of the
connexon (six subunits including GJA3,GJA8,GJB1,GJB2))6 MGI mutant phenotypes (inferred from 6 alleles ) (MGI details for Gjb2):
2 Gene Ontology (GO) molecular function terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005243 | gap junction channel activity |
IEA | -- | | GO:0005515 | protein binding |
IEA | -- |
About this table | Pathways & Interactions
for GJB2
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
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Gene Network CentralTM Interacting Genes and Proteins Network for GJB2
5/29 Interacting proteins for GJB2 (ENSP000003722993) via UniProtKB, MINT, and/or STRING (see all 29
)About this table
4 Gene Ontology (GO) biological process terms (links to tree view): About this table
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Drugs & Compounds
for GJB2(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
|
 Compounds for GJB2 available from Tocris Bioscience
| Compound | Action |
CAS
number |
|---|
| Gap 26 | Gap junction blocker; inhibits smooth muscle contraction and IP3-mediated ATP release | [197250-15-0] | | Gap 27 | Selective gap junction blocker | [198284-64-9] |
About this table
10/22  Novoseek chemical compound relationships for GJB2 gene (see all 22
)
About this table
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Transcripts
for GJB2(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
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 Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene,
Expression Assays from Applied Biosystems)
About This Section
| OriGene 29mer shRNA kit in GFP-retroviral vector: NM_004004
Sigma-Aldrich siRNA and siRNA Panels for GJB2
Sigma-Aldrich shRNA for GJB2
Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer® siRNAs: NM_004004 REFSEQ mRNAs for GJB2 gene: NM_004004.5
Applied Biosystems TaqMan ® Gene Expression Assays: NM_004004
OriGene GFP tagged cDNA clone in CMV expression vector: NM_004004
Myc/DDK tagged cDNA clone in CMV expression vector: NM_004004
untagged cDNA clone in CMV expression vector: NM_004004
Additional cDNA sequence: BT006732.1 4 DOTS entries: DT.113841 DT.91943064 DT.100743979 DT.120785344 24/120 AceView cDNA sequences (see all 120
):BM785180 H88913 BG677522 CA454536 T28737 AI280695 BE711440 AI598114 BI491091 BI492740 AW769275 AA461400 BT006732 BG679999 BF149255 CD370089 AI783695 BC017048 BG677671 BG741191 BG698685 AW276060 BG698719 N69323
 highest scoring ESTs for GJB2:AA315280 AA490688 AA613715 AA961504 BC017048 BC071703 BE872115 BG675976 BG678543 BI517786 Unigene Clusters for GJB2: Gap junction protein, beta 2, 26kDa Hs.524894 [show with all ESTs], Hs.719400 [show with all ESTs]Unigene Representative Sequences: NM_004004, BT006732
GeneLoc Exon Structure
2 Ensembl transcripts including schematic representations: ENST00000382844
ENST00000382848
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Expression
for GJB2
(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 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| GJB2 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for GJB2
1 / 2 / 3 7 probe-sets matching GJB2 gene Data from
(Publications) and GNF BioGPS
About these images
About these images
CGAP SAGE TAG: --
SOURCE GeneReport for Unigene clusters: Hs.524894 Hs.719400
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Orthologs
for GJB2
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for GJB2 gene from 5/7 species (see all 7
)
About this table Species with no ortholog for GJB2
ENSEMBL Gene Tree for GJB2 | Paralogs
for GJB2(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
| Paralogs for GJB2 gene
- GJB62 GJB12
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SNPs/Variants
for GJB2(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
| UniProtKB/Swiss-Prot: CXB2_HUMAN, P29033Polymorphism: The Thr-34 allele was originally (PubMed:9139825) thought to be a cause of forms of
hereditary non-syndromic sensorineural deafness (DFNA3 and DFNB1)
HapMap Linkage Disequilibrium images for GJB2 (up to first 250kb)
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Disorders & Mutations
for GJB2
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 121011 disorders: 220290 601544 124500 148350 148210 602540 149200 UniProtKB/Swiss-Prot: CXB2_HUMAN, P29033
Defects in GJB2 are the cause of non-syndromic sensorineural deafness autosomal recessive
type 1 (DFNB1) [MIM:220290]. DFNB1 is a form of sensorineural hearing loss. Sensorineural deafness
results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or
the area of the brain that receives sound information Defects in GJB2 are the cause of non-syndromic sensorineural deafness autosomal dominant
type 3A (DFNA3A) [MIM:601544] Defects in GJB2 are a cause of Vohwinkel syndrome (VS) [MIM:124500]. VS is an autosomal
dominant disease characterized by hyperkeratosis, constriction on finger and toes and congenital
deafness Defects in GJB2 are a cause of palmoplantar keratoderma with deafness (PPKDFN)
[MIM:148350]. PPKDFN is an autosomal dominant disorder characterized by the association of
palmoplantar hyperkeratosis with progressive, bilateral, high-frequency, sensorineural deafness Defects in GJB2 are a cause of keratitis-ichthyosis-deafness syndrome (KID syndrome)
[MIM:148210]; an autosomal dominant form of ectodermal dysplasia. Ectodermal dysplasias (EDs)
constitute a heterogeneous group of developmental disorders affecting tissues of ectodermal
origin. EDs are characterized by abnormal development of two or more ectodermal structures such as
hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each
combination of clinical features represents a different type of ectodermal dysplasia. KID syndrome
is characterized by the association of hyperkeratotic skin lesions with vascularizing keratitis
and profound sensorineural hearing loss. Clinical features include deafness, ichthyosis, photobia,
absent or decreased eyebrows, sparse or absent scalp hair, decreased sweating and dysplastic
finger and toenails Defects in GJB2 are the cause of Bart-Pumphrey syndrome (BPS) [MIM:149200]. BPS is an
autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma,
knuckle pads, and leukonychia, It shows considerable phenotypic variability Defects in GJB2 are the cause of ichthyosis hystrix-like with deafness syndrome (HID
syndrome) [MIM:602540]. HID syndrome is an autosomal-dominant inherited keratinizing disorder
characterized by sensorineural deafness and spiky hyperkeratosis affecting the entire skin. HID
syndrome is considered to differ from the similar KID syndrome in the extent and time of
occurrence of skin symptoms and the severity of the associated keratitis10/62 Novoseek disease relationships for GJB2 gene (see all 62
)
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| dfnb1 |
97.21 |
122 |
10903123 (5), 17498471 (4), 16941638 (4), 11807148 (3) (see all 53) |
| congenital deafness |
92.66 |
49 |
11977173 (2), 14643477 (2), 15603707 (2), 17886676 (2) (see all 34) |
| dfna3 |
90.26 |
13 |
12064630 (2), 10633133 (1), 16059934 (1), 9507396 (1) (see all 9) |
| vohwinkel syndrome |
87.79 |
16 |
17106596 (3), 17993581 (1), 10369869 (1), 10751668 (1) (see all 9) |
| hearing loss sensorineural |
87.54 |
108 |
15064611 (3), 15138772 (2), 19235794 (2), 12530196 (2) (see all 56) |
| congenital hearing loss |
85.24 |
17 |
15603707 (2), 14755431 (2), 18428366 (1), 18585793 (1) (see all 13) |
| deafness sensorineural |
84.80 |
31 |
15603707 (3), 12064630 (1), 18983339 (1), 10874298 (1) (see all 23) |
| enlarged vestibular aqueduct syndrome |
83.49 |
1 |
17886676 (1) |
| dfnb2 |
81.19 |
1 |
11101839 (1) |
| keratoderma palmoplantar |
80.08 |
19 |
17993581 (2), 9856479 (2), 16059934 (1), 18089569 (1) (see all 14) |
About this table
GeneTests: GJB2
DFNB 1 Nonsyndromic Hearing Loss and Deafness
Human Gene Mutation Database: GJB2
Genetic Association Database: GJB2
Human Genome Epidemiology Navigator: GJB2 (175 documents)
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Medical News
for GJB2(Possibly Related Articles in
Doctor's Guide)
About This Section
| |
Publications
for GJB2 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/657 PubMed articles for GJB2 gene (see all 657
):- Low frequency of deafness-associated GJB2 variants in Kenya and Sudan and novel GJB2 variants. (PubMed id 14722929)1, 3, 4, 6 Gasmelseed N.M.A....Meyer C.G. (2004)
- Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. (PubMed id 9139825)1, 2, 3, 4 Kelsell D.P.... Leigh I.M. (1997)
- Ethnicity and mutations in GJB2 (connexin 26) and GJB6 (connexin 30) in a multi-cultural Canadian paediatric Cochlear Implant Program. (PubMed id 16125251)1, 3, 6 Propst E.J....Papsin B.C. (2006)
- Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2). (PubMed id 11438992)1, 3, 6 Lin D....Lalwani A.K. (2001)
- Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30. (PubMed id 12668604)1, 3, 4 Marziano N.K.... Forge A. (2003)
- Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome. (PubMed id 12752120)1, 3, 4 Yotsumoto S....Kanzaki T. (2003)
- Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations--phenotypic spectrum and frequencies of GJB2 mutations in Austria. (PubMed id 12189487)1, 3, 6 Janecke A.R....Nekahm-Heis D. (2002)
- GJB2 and GJB6 mutations in 165 Danish patients showing non-syndromic hearing impairment. (PubMed id 15345117)1, 3, 6 Gronskov K....Brondum-Nielsen K. (2004)
- [Non-invasive screening for GJB2 mutations in buccal smears for the diagnosis of inherited hearing impairment] (PubMed id 12851846)1, 3, 6 Schade G....Meyer C.G. (2003)
- A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews. (PubMed id 11668644)1, 3, 6 Lerer I....Abeliovich D. (2001)
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Search for GJB2
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing GJB2
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing GJB2
(According to HUGE)
About This Section
| -- |
Specialized Databases showing GJB2(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
|
| Name | Description |
| ATLAS Chromosomes in Cancer entry for GJB2 | Genetics and Cytogenetics in Oncology and Haematology | | Connexin-deafness homepage | http://davinci.crg.es/deafness/ | | Hereditary hearing loss homepage | http://webhost.ua.ac.be/hhh/ | | GeneReviews | http://www.genetests.org/query?gene=GJB2 |
|
| | | About This Section
| --
| Services
for GJB2(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section
| 
Products for GJB2:
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(GJB2) | | | Antibodies (GJB2) |
| | | | Tocris compounds for GJB2 |
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Incremental update: 13 Oct 2009
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