Entity Details

Primary name CXB6_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO95452
EntryNameCXB6_HUMAN
FullNameGap junction beta-6 protein
TaxID9606
Evidenceevidence at protein level
Length261
SequenceStatuscomplete
DateCreated1999-07-15
DateModified2021-06-02

Ontological Relatives

GenesGJB6

GO terms

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GOName
GO:0003163 sinoatrial node development
GO:0005243 gap junction channel activity
GO:0005829 cytosol
GO:0005884 actin filament
GO:0005921 gap junction
GO:0005922 connexin complex
GO:0006915 apoptotic process
GO:0007267 cell-cell signaling
GO:0007568 aging
GO:0007605 sensory perception of sound
GO:0008017 microtubule binding
GO:0008285 negative regulation of cell population proliferation
GO:0016021 integral component of membrane
GO:0016264 gap junction assembly
GO:0016324 apical plasma membrane
GO:0030054 cell junction
GO:0032496 response to lipopolysaccharide
GO:0035633 maintenance of blood-brain barrier
GO:0042471 ear morphogenesis
GO:0048487 beta-tubulin binding
GO:0048839 inner ear development
GO:0051015 actin filament binding
GO:0051602 response to electrical stimulus
GO:0055085 transmembrane transport
GO:0071333 cellular response to glucose stimulus
GO:1903763 gap junction channel activity involved in cell communication by electrical coupling
GO:1990349 gap junction-mediated intercellular transport

Subcellular Location

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Subcellular Location
Cell junction
Cell membrane

Domains

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DomainNameCategoryType
IPR000500 ConnexinFamilyFamily
IPR013092 Connexin, N-terminalDomainDomain
IPR017990 Connexin, conserved siteSiteConserved site
IPR019570 Gap junction protein, cysteine-rich domainDomainDomain
IPR038359 Connexin, N-terminal domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
129500 OMIMEctodermal dysplasia 2, Clouston type (ECTD2)A form of ectodermal dysplasia, a heterogeneous group of disorders due to 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. ECTD2 is an autosomal dominant condition characterized by atrichosis, nail hypoplasia and deformities, hyperpigmentation of the skin, normal teeth, normal sweat and sebaceous gland function. Palmoplantar hyperkeratosis is a frequent feature. Hearing impairment has been detected in few cases. The disease is caused by variants affecting the gene represented in this entry.
612643 OMIMDeafness, autosomal dominant, 3B (DFNA3B)A form of non-syndromic sensorineural hearing loss characterized by a variable phenotype, ranging from bilateral middle to high frequency hearing loss to profound sensorineural deafness. 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. The disease is caused by variants affecting the gene represented in this entry.
612645 OMIMDeafness, autosomal recessive, 1B (DFNB1B)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. The disease is caused by variants affecting the gene represented in this entry.