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Gene: CCDC22 (coiled-coil domain containing 22) Homo sapiens
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Symbol: CCDC22
Name: coiled-coil domain containing 22
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: chromosome x open reading frame 37; coiled-coil domain-containing protein 22; CXorf37; JM1; RTSC2
Orthologs:
Mus musculus (house mouse) : Ccdc22 (coiled-coil domain containing 22)  MGI  Alliance
Rattus norvegicus (Norway rat) : Ccdc22 (coiled-coil domain containing 22)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Ccdc22 (coiled-coil domain containing 22)
Pan paniscus (bonobo/pygmy chimpanzee) : CCDC22 (coiled-coil domain containing 22)
Canis lupus familiaris (dog) : CCDC22 (coiled-coil domain containing 22)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Ccdc22 (coiled-coil domain containing 22)
Sus scrofa (pig) : CCDC22 (coiled-coil domain containing 22)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X49,235,467 - 49,250,526 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X49,091,927 - 49,106,987 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X48,978,885 - 48,994,341 (+)NCBINCBI36hg18NCBI36
Build 34X48,848,381 - 48,863,351NCBI
CeleraX52,557,382 - 52,572,443 (-)NCBI
Cytogenetic MapXp11.23NCBI
HuRefX46,748,323 - 46,763,422 (+)NCBIHuRef
CHM1_1X49,124,228 - 49,139,289 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on CCDC22
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1352329
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-06-18
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.