GJC2

Protein identityUniProt · HPA

UniProt accession

Q5T442

Gene

GJC2

Ensembl

ENSG00000198835

Chromosome

1

Canonical length

439 aa

Protein class

Disease related genes, Human disease related genes, Predicted membrane proteins

Subcellular location

Plasma membrane,Cytosol

OverviewNCBI Gene

This gene encodes a gap junction protein. Gap junction proteins are members of a large family of homologous connexins and comprise 4 transmembrane, 2 extracellular, and 3 cytoplasmic domains. This gene plays a key role in central myelination and is involved in peripheral myelination in humans. Defects in this gene are the cause of autosomal recessive Pelizaeus-Merzbacher-like disease-1. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

439 residues, UniProt reviewed canonical sequence.

>Q5T442|GJC2
     1  MTNMSWSFLT RLLEEIHNHS TFVGKVWLTV LVVFRIVLTA VGGEAIYSDE QAKFTCNTRQ
    61  PGCDNVCYDA FAPLSHVRFW VFQIVVISTP SVMYLGYAVH RLARASEQER RRALRRRPGP
   121  RRAPRAHLPP PHAGWPEPAD LGEEEPMLGL GEEEEEEETG AAEGAGEEAE EAGAEEACTK
   181  AVGADGKAAG TPGPTGQHDG RRRIQREGLM RVYVAQLVAR AAFEVAFLVG QYLLYGFEVR
   241  PFFPCSRQPC PHVVDCFVSR PTEKTVFLLV MYVVSCLCLL LNLCEMAHLG LGSAQDAVRG
   301  RRGPPASAPA PAPRPPPCAF PAAAAGLACP PDYSLVVRAA ERARAHDQNL ANLALQALRD
   361  GAAAGDRDRD SSPCVGLPAA SRGPPRAGAP ASRTGSATSA GTVGEQGRPG THERPGAKPR
   421  AGSEKGSASS RDGKTTVWI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GJC2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

4

Mean surface accessibility (rSASA)

0.53

Highest tissue expression

67 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GJC2.

Disease | AllUniProt

Conditions GJC2 is implicated in, by any mechanism.

• Leukodystrophy, hypomyelinating, 2 (HLD2) MIM:608804
• Spastic paraplegia 44, autosomal recessive (SPG44) MIM:613206
• Lymphatic malformation 3 (LMPHM3) MIM:613480

Disease | GeneticClinVar

77 pathogenic / likely-pathogenic of 430 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hypomyelinating leukodystrophy 2
• Spastic paraplegia
• Lymphatic malformation 3
• Hereditary spastic paraplegia 44
• Inborn genetic diseases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.23

gnomAD pLI

0.01

gnomAD missense Z

1.87

DepMap mean gene effect

0.07

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cell communication by electrical coupling
• cell-cell signaling
• response to toxic substance

Molecular functions

• gap junction channel activity
• gap junction channel activity involved in cell communication by electrical coupling

Cellular components

• connexin complex
• gap junction
• myelin sheath

Protein domainsUniProt · Pfam · InterPro

• Connexin
• Connexin, N-terminal
• Connexin, conserved site
• Connexin, cysteine-rich domain
• Connexin, N-terminal domain superfamily
• Connexin

KeywordsUniProt

• Cell junction
• Cell membrane
• Gap junction
• Hereditary spastic paraplegia
• Leukodystrophy
• Membrane
• Neurodegeneration
• Phosphoprotein
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of GJC2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• TJP1