CCDC22

Coiled-coil domain containing 22 is a protein that in humans is encoded by the CCDC22 gene.^[5]

CCDC22
Identifiers
Aliases	CCDC22, CXorf37, JM1, RTSC2, coiled-coil domain containing 22
External IDs	OMIM: 300859; MGI: 1859608; HomoloGene: 8515; GeneCards: CCDC22; OMA:CCDC22 - orthologs
Gene location (Human) Chr. X chromosome (human)[1] Band Xp11.23 Start 49,235,470 bp[1] End 49,250,520 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X A1.1|X 3.42 cM Start 7,460,048 bp[2] End 7,471,756 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in granulocyte monocyte mucosa of transverse colon apex of heart tendon of biceps brachii right hemisphere of cerebellum gastrocnemius muscle spleen blood parotid gland Top expressed in interventricular septum Rostral migratory stream otic vesicle saccule otic placode internal carotid artery external carotid artery substantia nigra fossa condyle More reference expression data BioGPS n/a
Gene ontology Molecular function cullin family protein binding protein binding Cellular component endosome nucleoplasm cytosol cellular component Biological process protein transport positive regulation of I-kappaB kinase/NF-kappaB signaling cytoplasmic sequestering of NF-kappaB Golgi to plasma membrane transport positive regulation of ubiquitin-dependent protein catabolic process negative regulation of I-kappaB kinase/NF-kappaB signaling cellular copper ion homeostasis post-translational protein modification protein ubiquitination endocytic recycling Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 28952 54638 Ensembl ENSG00000101997 ENSMUSG00000031143 UniProt O60826 Q9JIG7 RefSeq (mRNA) NM_014008 NM_138603 RefSeq (protein) NP_054727 NP_613069 Location (UCSC) Chr X: 49.24 – 49.25 Mb Chr X: 7.46 – 7.47 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Function

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. In humans, this gene has been identified as a novel candidate gene for syndromic X-linked intellectual disability.

Clinical significance

Mutations in CCDC22 are associated with Ritscher-Schinzel syndrome.^[6]