Gene Ontology annotation through association of InterPro records with GO terms
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
Annotation inferences using phylogenetic trees
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
Automatic assignment of GO terms using logical inference, based on on inter-ontology links
Combined Automated Annotation using Multiple IEA Methods
A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families.
Developmental expression patterns of connexin26 and -30 in the rat cochlea.
Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population.
A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350).
Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family.
A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss.
High frequency hearing loss correlated with mutations in the GJB2 gene.
Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.
Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana.
Multiple pathways in the trafficking and assembly of connexin 26, 32 and 43 into gap junction intercellular communication channels.
Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.
HID and KID syndromes are associated with the same connexin 26 mutation.
Homozygosity for the V37I Connexin 26 mutation in three unrelated children with sensorineural hearing loss.
Exploring the clinical and epidemiological complexity of GJB2-linked deafness.
The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family.
De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome.
GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation.
Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30.
Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India.
Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome.
Permeability and gating properties of human connexins 26 and 30 expressed in HeLa cells.
A novel dominant missense mutation--D179N--in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss.
Transcriptional downregulation of gap-junction proteins blocks junctional communication in human mammary tumor cell lines.
Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene.
Low frequency of deafness-associated GJB2 variants in Kenya and Sudan and novel GJB2 variants.
The DNA sequence and analysis of human chromosome 13.
Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2.
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Impaired permeability to Ins(1,4,5)P3 in a mutant connexin underlies recessive hereditary deafness.
GJB2 mutations: passage through Iran.
Cochlear gap junctions coassembled from Cx26 and 30 show faster intercellular Ca2+ signaling than homomeric counterparts.
Clinical features of patients with GJB2 (connexin 26) mutations: severity of hearing loss is correlated with genotypes and protein expression patterns.
G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart-Pumphrey syndrome.
Mutation analysis of the GJB2 (connexin 26) gene in Egypt.
A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.
Functional analysis of R75Q mutation in the gene coding for Connexin 26 identified in a family with nonsyndromic hearing loss.
Pathogenetic role of the deafness-related M34T mutation of Cx26.
Three-dimensional structure of a human connexin26 gap junction channel reveals a plug in the vestibule.
A novel hearing-loss-related mutation occurring in the GJB2 basal promoter.
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.
M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance.
A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness.
New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma.
Connexin mutations in Brazilian patients with skin disorders with or without hearing loss.
Structure of the connexin 26 gap junction channel at 3.5 A resolution.
Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss.
Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss.
Consortin, a trans-Golgi network cargo receptor for the plasma membrane targeting and recycling of connexins.
Asymmetric configurations and N-terminal rearrangements in connexin26 gap junction channels.
Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss.
An electrostatic mechanism for Ca(2+)-mediated regulation of gap junction channels.
Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss.
Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma.
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.
A reference map of the human binary protein interactome.
Connexin 26 Functions as a Direct Transcriptional Regulator During the Cochlea Development.
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness.
Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations.
Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene.
Connexin mutations and hearing loss.
Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa.
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.
Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss.
Connexin 26 gene linked to a dominant deafness.
Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma.
Oligomerization of connexins into connexons
Transport of connexins along the secretory pathway
Transport of connexons to the plasma membrane
Microtubule-independent trafficking of connexons to the plasma membrane
Peroxisome assembly protein 12
G protein-coupled receptor 42
Free fatty acid receptor 2
Potassium channel subfamily K member 5
Gap junction beta-1 protein
NKG2-A/NKG2-B type II integral membrane protein
Gap junction beta-2 protein
Thyrotropin-releasing hormone receptor
Gap junction alpha-5 protein
Gap junction alpha-8 protein
Chromaffin granule amine transporter
Gap junction beta-2 protein
3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase
ADP-ribosylation factor-like protein 13B
Major facilitator superfamily domain-containing protein 6
17-beta-hydroxysteroid dehydrogenase 13
Amphoterin-induced protein 1
Testis-expressed protein 29
LHFPL tetraspan subfamily member 5 protein
Probable G protein-coupled receptor 152
Serine-rich single-pass membrane protein 1
Transmembrane protein 106A
Pleckstrin homology domain-containing family B member 2
Membrane-spanning 4-domains subfamily A member 6E
TLC domain-containing protein 4
Transmembrane protein 237
Proton-coupled zinc antiporter SLC30A2
TM2 domain-containing protein 2
Leucine-rich repeat-containing protein 4C
Complex I assembly factor TIMMDC1, mitochondrial
Small COPII coat GTPase SAR1A
Endoplasmic reticulum-Golgi intermediate compartment protein 3
Thioredoxin-related transmembrane protein 2
GJB2 manual evidence and source boundaries