CCDC22

This gene encodes a protein containing a coiled-coil domain. The encoded protein functions in the regulation of NF-kB (nuclear factor kappa-light-chain-enhancer of activated B cells) by interacting with COMMD (copper metabolism Murr1 domain-containing) proteins. The mouse orthologous protein has been shown to bind copines, which are calcium-dependent, membrane-binding proteins that may function in calcium signaling. This human gene has been identified as a novel candidate gene for syndromic X-linked intellectual disability. [provided by RefSeq, Aug 2013]

Description

Coiled-coil domain containing 22

Tissue specificity

Low tissue specificity

Subcell location

Endoplasmic reticulum, Vesicles

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Potential drug targets
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transporters

Chromosome

X (49235470 - 49250520)

Ensembl ID

ENSG00000101997  (ver. 103.38)

Orthologs

Mouse Ccdc22: ENSMUSG00000031143

UniProt

O60826

neXtProt

NX_O60826

Human splice variants
Mouse splice variants

Protein structure