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

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: mouse all
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Genomic context

Location:: Xp11.23

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (49235470..49250520)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (48646429..48662382)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (49091930..49106981)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes.
Title: Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes.
SNPs within the CCDC22 gene are associated with increased susceptibility to endometriosis in Brazilian women.
Title: CCDC22 gene polymorphism is associated with advanced stages of endometriosis in a sample of Brazilian women.
Our results suggest that rs2294020 is associated with the risk of several autoimmune diseases in European populations, specifically with diseases that present themselves, among else, in the skin.
Title: Association between rs2294020 in X-linked CCDC22 and susceptibility to autoimmune diseases with focus on systemic lupus erythematosus.
CCDC22 mutation is associated with hypercholesterolemia.
Title: CCC- and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDL.
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome
Title: Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
CCDC22 participates in NF-kappaB activation and its deficiency leads to decreased IkappaB turnover
Title: CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling.
This study demonistrated that CCDC22 is a novel candidate gene for syndromic X-linked intellectual disability.
Title: CCDC22: a novel candidate gene for syndromic X-linked intellectual disability.
Identifies the homologous mouse protein as a copine-binding protein.
Title: Identification of targets for calcium signaling through the copine family of proteins. Characterization of a coiled-coil copine-binding motif.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants harbored in the forkhead box protein 3 locus increase hay fever risk.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Ritscher-Schinzel syndrome 2 MedGen: C4225419 OMIM: 300963 GeneReviews: Ritscher-Schinzel Syndrome	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

DXS1208 (e-PCR)
- UniSTS:34854

DXS9795 (e-PCR)
- UniSTS:54856

DXS1208 (e-PCR)
- UniSTS:26482

RH99318 (e-PCR)
- UniSTS:85188

SHGC-132193 (e-PCR)
- UniSTS:170703

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

Process	Evidence Code	Pubs
involved_in Golgi to plasma membrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cytoplasmic sequestering of NF-kappaB	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endocytic recycling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular copper ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of canonical NF-kappaB signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of canonical NF-kappaB signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of ubiquitin-dependent protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein transport	IEA Inferred from Electronic Annotation more info

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

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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

NG_021311.2 RefSeqGene

Range

5006..20056

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_014008.5 → NP_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:1 → 590

DUF812; Protein of unknown function (DUF812)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

49235470..49250520

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

B7ZAR0

Conserved Domains (1) summary

pfam05667
Location:1 → 589

DUF812; Protein of unknown function (DUF812)

RNA

XR_430506.4 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060947.1 Alternate T2T-CHM13v2.0

Range

48646429..48662382

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

A8K7G1, O60826
XM_054326913.1 → XP_054182888.1 coiled-coil domain-containing protein 22 isoform X1