InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GJC2

Summary

InnateDB Protein

IDBP-107206.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GJC2

Protein Name

gap junction protein, gamma 2, 47kDa

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000355675

InnateDB Gene

IDBG-107204 (GJC2)

Protein Structure

UniProt Annotation

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. May play a role in myelination in central and peripheral nervous systems. {ECO:0000269PubMed:15192806}.

Subcellular Localization

Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.

Disease Associations

Leukodystrophy, hypomyelinating, 2 (HLD2) [MIM:608804]: An autosomal recessive hypomyelinating leukodystrophy with symptoms of Pelizaeus-Merzbacher disease. Clinically characterized by nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity. {ECO:0000269PubMed:15192806}. Note=The disease is caused by mutations affecting the gene represented in this entry.Spastic paraplegia 44, autosomal recessive (SPG44) [MIM:613206]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. {ECO:0000269PubMed:19056803}. Note=The disease is caused by mutations affecting the gene represented in this entry.Lymphedema, hereditary, 1C (LMPH1C) [MIM:613480]: A chronic disabling condition which results in swelling of the extremities due to altered lymphatic flow. Patients with lymphedema suffer from recurrent local infections and physical impairment. {ECO:0000269PubMed:20537300}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in central nervous system, in sciatic nerve and sural nerve. Also detected in skeletal muscles. {ECO:0000269PubMed:15192806}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.