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CCDC22 coiled-coil domain containing 22 [ Homo sapiens (human) ]

Gene ID: 28952, updated on 26-Jan-2024

Summary

Official Symbol
CCDC22provided by HGNC
Official Full Name
coiled-coil domain containing 22provided by HGNC
Primary source
HGNC:HGNC:28909
See related
Ensembl:ENSG00000101997 MIM:300859; AllianceGenome:HGNC:28909
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
JM1; RTSC2; CXorf37
Summary
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]
Expression
Ubiquitous expression in spleen (RPKM 9.7), lymph node (RPKM 7.9) and 25 other tissues See more
Orthologs
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Genomic context

See CCDC22 in Genome Data Viewer
Location:
Xp11.23
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (49235470..49250520)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (48646429..48662382)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (49091930..49106981)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chrX:49065732-49066931 Neighboring gene calcium voltage-gated channel subunit alpha1 F Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:49086994-49087652 Neighboring gene heat shock protein family B (small) member 1 pseudogene 2 Neighboring gene CRISPRi-FlowFISH-validated GATA1 regulatory element 2 Neighboring gene forkhead box P3 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:49125345-49125844 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20845 Neighboring gene FOXP3 regulating long intergenic non-coding RNA Neighboring gene protein phosphatase 1 regulatory subunit 3F Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:49133671-49134170 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29638

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cullin family protein binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables cullin family protein binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
 
located_in centrosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in endosome IEA
Inferred from Electronic Annotation
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
coiled-coil domain-containing protein 22

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_021311.2 RefSeqGene

    Range
    5006..20056
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_014008.5NP_054727.1  coiled-coil domain-containing protein 22

    See identical proteins and their annotated locations for NP_054727.1

    Status: REVIEWED

    Source sequence(s)
    AJ005890, BC000972, DC340647
    Consensus CDS
    CCDS14322.1
    UniProtKB/Swiss-Prot
    A8K7G1, O60826
    UniProtKB/TrEMBL
    B7ZAR0
    Related
    ENSP00000365401.3, ENST00000376227.4
    Conserved Domains (1) summary
    pfam05667
    Location:1590
    DUF812; Protein of unknown function (DUF812)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    49235470..49250520
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005272599.5XP_005272656.1  coiled-coil domain-containing protein 22 isoform X1

    UniProtKB/TrEMBL
    B7ZAR0
    Conserved Domains (1) summary
    pfam05667
    Location:1589
    DUF812; Protein of unknown function (DUF812)

RNA

  1. XR_430506.4 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    48646429..48662382
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054326912.1XP_054182887.1  coiled-coil domain-containing protein 22 isoform X2

    UniProtKB/Swiss-Prot
    A8K7G1, O60826
    UniProtKB/TrEMBL
    B7ZAR0
  2. XM_054326913.1XP_054182888.1  coiled-coil domain-containing protein 22 isoform X1

    UniProtKB/TrEMBL
    B7ZAR0

RNA

  1. XR_008485477.1 RNA Sequence