GeneBe

GJB2

gap junction protein beta 2, the group of Gap junction proteins

Basic information

Region (hg38): 13:20187463-20192938

Previous symbols: [ "DFNB1", "DFNA3" ]

Links

ENSG00000165474 ∙ NCBI:2706 ∙ OMIM:121011 ∙ HGNC:4284 ∙ Uniprot:P29033 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

  • autosomal recessive nonsyndromic hearing loss 1A (Strong), mode of inheritance: AR
  • ichthyosis, hystrix-like, with hearing loss (Strong), mode of inheritance: AD
  • palmoplantar keratoderma-deafness syndrome (Strong), mode of inheritance: AD
  • autosomal dominant keratitis-ichthyosis-hearing loss syndrome (Strong), mode of inheritance: AD
  • keratoderma hereditarium mutilans (Strong), mode of inheritance: AD
  • Bart-Pumphrey syndrome (Strong), mode of inheritance: AD
  • KID syndrome (Supportive), mode of inheritance: AD
  • palmoplantar keratoderma-deafness syndrome (Supportive), mode of inheritance: AD
  • keratoderma hereditarium mutilans (Supportive), mode of inheritance: AD
  • autosomal dominant nonsyndromic hearing loss (Supportive), mode of inheritance: AD
  • hearing loss, autosomal recessive (Supportive), mode of inheritance: AR
  • autosomal recessive nonsyndromic hearing loss 1A (Definitive), mode of inheritance: AR
  • autosomal dominant keratitis-ichthyosis-hearing loss syndrome (Moderate), mode of inheritance: AD
  • autosomal dominant nonsyndromic hearing loss 3A (Strong), mode of inheritance: AD
  • autosomal recessive nonsyndromic hearing loss 1A (Definitive), mode of inheritance: AR
  • ichthyosis, hystrix-like, with hearing loss (Definitive), mode of inheritance: AD
  • Bart-Pumphrey syndrome (Definitive), mode of inheritance: AD
  • palmoplantar keratoderma-deafness syndrome (Definitive), mode of inheritance: AD
  • keratoderma hereditarium mutilans (Definitive), mode of inheritance: AD
  • autosomal recessive nonsyndromic hearing loss 1A (Strong), mode of inheritance: AR
  • autosomal dominant nonsyndromic hearing loss 3A (Strong), mode of inheritance: AD
  • Bart-Pumphrey syndrome (Strong), mode of inheritance: AD
  • hearing loss, autosomal recessive (Definitive), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Deafness, autosomal dominant 3A; Keratitis-icthyosis-deafness syndrome, autosomal dominant; Deafness, autosomal recessive 1A; Deafness, digenic; Hystrix-like ichthyosis with deafness; Bart-Pumphrey syndrome; Keratoderma, palmoplantar, with deafness; Vohwinkel syndromeAD/AR/DigenicAllergy/Immunology/Infectious; Audiologic/Otolaryngologic; OncologicEarly recognition and treatment of hearing impairment may improve outcomes, including speech and language development; In certain conditions (eg, KID syndrome), infectious and malignant complications may benefit from surveillance leading to microbial prophylaxis and early and aggressive treatment of infections and early detection and treatment of malignancyAllergy/Immunology/Infectious; Audiologic/Otolaryngologic; Dermatologic; Oncologic; Ophthalmologic6015974; 1532426; 8010352; 7748756; 9139825; 9529365; 9620796; 10218527; 10369869; 10633135; 10807696; 11298683; 11807148; 12047643; 11960582; 11912510; 11889383; 12372058; 12072059; 11918723; 12560944; 14694360; 15150777; 15482471; 14700667; 16222667; 16380907; 15994881; 15633193; 15691545; 15996214; 16840571; 17041943; 17330861; 993581; 17041943; 19050930; 18843290; 20815033; 20412116
In nonsyndromic deafness, onset of AD disease can be pre or postlingual; In syndromic disease, although skin and other findings may be obvious in some individuals, the syndromic combination of features may not be as readily appreciated as being related to hearing impairment; Digenic inheritance (with GJB3, GJB6) has been described

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the GJB2 gene.

  • not provided (64 variants)
  • Autosomal recessive nonsyndromic hearing loss 1A (40 variants)
  • Rare genetic deafness (24 variants)
  • Nonsyndromic genetic hearing loss (18 variants)
  • Autosomal dominant nonsyndromic hearing loss 3A (16 variants)
  • 8 conditions (16 variants)
  • Hearing loss (15 variants)
  • Hearing impairment (13 variants)
  • GJB2-related disorder (11 variants)
  • Autosomal recessive nonsyndromic hearing loss 1B;Autosomal recessive nonsyndromic hearing loss 1A (8 variants)
  • Hearing loss, autosomal recessive (5 variants)
  • Inborn genetic diseases (5 variants)
  • Palmoplantar keratoderma-deafness syndrome (4 variants)
  • 7 conditions (4 variants)
  • Mutilating keratoderma (4 variants)
  • not specified (3 variants)
  • Nonsyndromic Deafness (3 variants)
  • See cases (2 variants)
  • Autosomal dominant keratitis-ichthyosis-hearing loss syndrome (2 variants)
  • Ichthyosis, hystrix-like, with hearing loss (2 variants)
  • Hereditary palmoplantar keratoderma;Nonsyndromic genetic hearing loss (2 variants)
  • Autism spectrum disorder (2 variants)
  • GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss (2 variants)
  • Bilateral sensorineural hearing impairment (1 variants)
  • Knuckle pads, deafness AND leukonychia syndrome (1 variants)
  • Hearing impairment;Bilateral sensorineural hearing impairment (1 variants)
  • Noonan syndrome 1 (1 variants)
  • Autosomal dominant nonsyndromic hearing loss 3A;Autosomal recessive nonsyndromic hearing loss 1A (1 variants)
  • Autosomal dominant keratitis-ichthyosis-hearing loss syndrome;Ichthyosis, hystrix-like, with hearing loss (1 variants)
  • Severe sensorineural hearing impairment (1 variants)
  • Sensorineural hearing loss disorder (1 variants)
  • Ear malformation (1 variants)
  • Deafness, digenic, GJB2/GJB6 (1 variants)
  • Deafness, digenic, GJB2/GJB3 (1 variants)
  • Deafness (1 variants)
  • Bilateral conductive hearing impairment;Hearing impairment (1 variants)
  • Autosomal recessive nonsyndromic hearing loss 1A;Autosomal recessive nonsyndromic hearing loss 1B (1 variants)
  • nonsyndromic sensorineural hearing loss (1 variants)
  • Autosomal recessive nonsyndromic hearing loss 104 (1 variants)
  • Progressive sensorineural hearing impairment (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GJB2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
2
clinvar
114
clinvar
 116
missense
25
clinvar
71
clinvar
81
clinvar
8
clinvar
2
clinvar
 187
nonsense
15
clinvar
14
clinvar
1
clinvar
 30
start loss
4
clinvar
1
clinvar
 5
frameshift
29
clinvar
21
clinvar
 50
inframe indel
2
clinvar
3
clinvar
8
clinvar
 13
splice donor/acceptor (+/-2bp)
2
clinvar
2
clinvar
 4
splice region
1
1
 2
non coding
34
clinvar
8
clinvar
11
clinvar
 53
Total 75 112 128 130 13

Highest pathogenic variant AF is 0.00941

Variants in GJB2

This is a list of pathogenic ClinVar variants found in the GJB2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
13-20187606-ATACT-A Keratitis ichthyosis and deafness syndrome • Mutilating keratoderma • Nonsyndromic Hearing Loss, Dominant • Ichthyosis, hystrix-like, with hearing loss • Hearing loss, autosomal recessive Uncertain significance (Jun 14, 2016)311352
13-20187624-A-G Autosomal dominant nonsyndromic hearing loss 3A • Ichthyosis, hystrix-like, with hearing loss • Autosomal recessive nonsyndromic hearing loss 1A Benign (Jan 13, 2018)311353
13-20187695-A-C Autosomal recessive nonsyndromic hearing loss 1A • Ichthyosis, hystrix-like, with hearing loss • Autosomal dominant nonsyndromic hearing loss 3A Uncertain significance (Jan 13, 2018)311354
13-20187704-A-T Autosomal dominant nonsyndromic hearing loss 3A • Autosomal recessive nonsyndromic hearing loss 1A • Ichthyosis, hystrix-like, with hearing loss Benign/Likely benign (May 19, 2021)311355
13-20187749-C-T Autosomal recessive nonsyndromic hearing loss 1A • Ichthyosis, hystrix-like, with hearing loss • Autosomal dominant nonsyndromic hearing loss 3A Benign (May 12, 2021)311356
13-20187834-C-A Autosomal dominant nonsyndromic hearing loss 3A • Ichthyosis, hystrix-like, with hearing loss • Autosomal recessive nonsyndromic hearing loss 1A Benign (May 12, 2021)311357
13-20187861-T-C Ichthyosis, hystrix-like, with hearing loss • Autosomal dominant nonsyndromic hearing loss 3A • Autosomal recessive nonsyndromic hearing loss 1A Uncertain significance (Jan 13, 2018)880907
13-20187868-C-T Ichthyosis, hystrix-like, with hearing loss • Autosomal recessive nonsyndromic hearing loss 1A • Autosomal dominant nonsyndromic hearing loss 3A Conflicting classifications of pathogenicity (Jan 13, 2018)311358
13-20187885-T-C Autosomal dominant nonsyndromic hearing loss 3A • Autosomal recessive nonsyndromic hearing loss 1A • Ichthyosis, hystrix-like, with hearing loss Conflicting classifications of pathogenicity (Jan 12, 2018)311359
13-20187922-T-C Autosomal recessive nonsyndromic hearing loss 1A • Autosomal dominant nonsyndromic hearing loss 3A • Ichthyosis, hystrix-like, with hearing loss Uncertain significance (Jan 13, 2018)311360
13-20187970-G-A Ichthyosis, hystrix-like, with hearing loss • Autosomal recessive nonsyndromic hearing loss 1A • Autosomal dominant nonsyndromic hearing loss 3A Benign (May 13, 2021)311361
13-20188075-CATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGA-C Nonsyndromic genetic hearing loss Likely pathogenic (Mar 13, 2024)3069173
13-20188101-T-C Autosomal dominant nonsyndromic hearing loss 3A • Autosomal recessive nonsyndromic hearing loss 1A • Ichthyosis, hystrix-like, with hearing loss Uncertain significance (Jan 12, 2018)311362
13-20188115-C-T Autosomal recessive nonsyndromic hearing loss 1A • Ichthyosis, hystrix-like, with hearing loss • Autosomal dominant nonsyndromic hearing loss 3A Conflicting classifications of pathogenicity (Jan 12, 2018)311363
13-20188222-A-G Autosomal recessive nonsyndromic hearing loss 1A • Ichthyosis, hystrix-like, with hearing loss • Autosomal dominant nonsyndromic hearing loss 3A Uncertain significance (Jan 13, 2018)882542
13-20188303-G-T Autosomal dominant nonsyndromic hearing loss 3A • Autosomal recessive nonsyndromic hearing loss 1A • Ichthyosis, hystrix-like, with hearing loss Uncertain significance (Jan 13, 2018)311364
13-20188351-T-C Ichthyosis, hystrix-like, with hearing loss • Autosomal dominant nonsyndromic hearing loss 3A • Autosomal recessive nonsyndromic hearing loss 1A Uncertain significance (Jan 13, 2018)883325
13-20188357-A-G Autosomal recessive nonsyndromic hearing loss 1A • Ichthyosis, hystrix-like, with hearing loss • Autosomal dominant nonsyndromic hearing loss 3A Uncertain significance (Jan 12, 2018)311365
13-20188419-T-C Autosomal dominant nonsyndromic hearing loss 3A • Autosomal recessive nonsyndromic hearing loss 1A • Ichthyosis, hystrix-like, with hearing loss Uncertain significance (Jan 13, 2018)311366
13-20188478-G-A Autosomal dominant nonsyndromic hearing loss 3A • Ichthyosis, hystrix-like, with hearing loss • Autosomal recessive nonsyndromic hearing loss 1A Uncertain significance (Jan 13, 2018)311367
13-20188489-T-G Autosomal recessive nonsyndromic hearing loss 1A • Ichthyosis, hystrix-like, with hearing loss • Autosomal dominant nonsyndromic hearing loss 3A Uncertain significance (Jan 13, 2018)311368
13-20188516-C-G Autosomal recessive nonsyndromic hearing loss 1A • Autosomal dominant nonsyndromic hearing loss 3A • Ichthyosis, hystrix-like, with hearing loss Uncertain significance (Jan 13, 2018)882320
13-20188593-C-T Autosomal recessive nonsyndromic hearing loss 1A • Autosomal dominant nonsyndromic hearing loss 3A • Ichthyosis, hystrix-like, with hearing loss Uncertain significance (Jan 12, 2018)882321
13-20188665-T-A Autosomal recessive nonsyndromic hearing loss 1A • Autosomal dominant nonsyndromic hearing loss 3A • Ichthyosis, hystrix-like, with hearing loss Uncertain significance (Jan 17, 2018)882589
13-20188733-T-C Autosomal dominant nonsyndromic hearing loss 3A • Autosomal recessive nonsyndromic hearing loss 1A • Ichthyosis, hystrix-like, with hearing loss Benign (Jul 01, 2021)311369

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
GJB2protein_codingprotein_codingENST00000382844 15429
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
6.56e-160.00015400000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.7201611371.170.000008461481
Missense in Polyphen7067.1241.0428721
Synonymous-0.2936461.11.050.00000437446
Loss of Function-3.82176.502.622.82e-769

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Function
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.;
Disease
DISEASE: Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]: A form of non-syndromic 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. {ECO:0000269|PubMed:10830906, ECO:0000269|PubMed:11313763, ECO:0000269|PubMed:11439000, ECO:0000269|PubMed:12121355, ECO:0000269|PubMed:12239718, ECO:0000269|PubMed:12786758, ECO:0000269|PubMed:14722929, ECO:0000269|PubMed:15592461, ECO:0000269|PubMed:15666300, ECO:0000269|PubMed:15994881, ECO:0000269|PubMed:17660464, ECO:0000269|PubMed:17666888, ECO:0000269|PubMed:19384972, ECO:0000269|PubMed:23680645, ECO:0000269|PubMed:28281779, ECO:0000269|PubMed:9328482, ECO:0000269|PubMed:9336442, ECO:0000269|PubMed:9471561, ECO:0000269|PubMed:9529365}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Deafness, autosomal dominant, 3A (DFNA3A) [MIM:601544]: A form of non-syndromic 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. {ECO:0000269|PubMed:10807696, ECO:0000269|PubMed:11313763, ECO:0000269|PubMed:11439000, ECO:0000269|PubMed:12668604, ECO:0000269|PubMed:12786758, ECO:0000269|PubMed:19384972, ECO:0000269|PubMed:9620796}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Vohwinkel syndrome (VOWNKL) [MIM:124500]: An autosomal dominant disease characterized by hyperkeratosis, constriction on fingers and toes and congenital deafness. {ECO:0000269|PubMed:10369869, ECO:0000269|PubMed:12668604, ECO:0000269|PubMed:15954104, ECO:0000269|PubMed:18688874}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Keratoderma, palmoplantar, with deafness (PPKDFN) [MIM:148350]: An autosomal dominant disorder characterized by the association of palmoplantar hyperkeratosis with progressive, bilateral, high-frequency, sensorineural deafness. {ECO:0000269|PubMed:10633135, ECO:0000269|PubMed:10757647, ECO:0000269|PubMed:12372058, ECO:0000269|PubMed:12668604, ECO:0000269|PubMed:15996214, ECO:0000269|PubMed:17993581, ECO:0000269|PubMed:9856479}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Keratitis-ichthyosis-deafness syndrome (KID syndrome) [MIM:148210]: An autosomal dominant form of ectodermal dysplasia. Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Keratitis-ichthyosis-deafness syndrome is characterized by the association of hyperkeratotic skin lesions with vascularizing keratitis and profound sensorineural hearing loss. Clinical features include deafness, ichthyosis, photophobia, absent or decreased eyebrows, sparse or absent scalp hair, decreased sweating and dysplastic finger and toenails. {ECO:0000269|PubMed:11912510, ECO:0000269|PubMed:12548749, ECO:0000269|PubMed:12752120}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Bart-Pumphrey syndrome (BPS) [MIM:149200]: An autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, It shows considerable phenotypic variability. {ECO:0000269|PubMed:15482471, ECO:0000269|PubMed:15952212}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Ichthyosis hystrix-like with deafness syndrome (HID syndrome) [MIM:602540]: An autosomal dominant 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 keratitis. {ECO:0000269|PubMed:12072059}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
Pathway
Calcium Regulation in the Cardiac Cell;Vesicle-mediated transport;Membrane Trafficking;Transport of connexins along the secretory pathway;Oligomerization of connexins into connexons;Transport of connexons to the plasma membrane;Gap junction assembly;Gap junction trafficking;Gap junction trafficking and regulation (Consensus)

Recessive Scores

pRec
0.506

Intolerance Scores

loftool
0.163
rvis_EVS
0.66
rvis_percentile_EVS
84.55

Haploinsufficiency Scores

pHI
0.429
hipred
N
hipred_score
0.473
ghis
0.429

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.801

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Gjb2
Phenotype
cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); reproductive system phenotype; normal phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); embryo phenotype; skeleton phenotype; immune system phenotype; limbs/digits/tail phenotype; hearing/vestibular/ear phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); homeostasis/metabolism phenotype; cellular phenotype; craniofacial phenotype;

Zebrafish Information Network

Gene name
cx30.3
Affected structure
sagitta
Phenotype tag
abnormal
Phenotype quality
decreased width

Gene ontology

Biological process
response to ischemia;cell-cell signaling;aging;sensory perception of sound;gap junction assembly;response to estradiol;response to lipopolysaccharide;response to retinoic acid;response to progesterone;cellular response to oxidative stress;response to human chorionic gonadotropin;response to antibiotic;decidualization;inner ear development;transmembrane transport;cellular response to glucagon stimulus;cellular response to dexamethasone stimulus;epididymis development
Cellular component
endoplasmic reticulum-Golgi intermediate compartment;cytosol;plasma membrane;connexin complex;integral component of membrane;lateral plasma membrane;cell body;perinuclear region of cytoplasm;astrocyte projection
Molecular function
gap junction channel activity;identical protein binding