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Gene id

28952

Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

CCDC22 Gene UCSC Ensembl

Aliases

CXorf37, JM1, RTSC2

Gene name

coiled-coil domain containing 22

Alternate names

coiled-coil domain-containing protein 22,

Gene location

Xp11.23 (3006612: 3033384) Exons: 9 NC_000023.11

Gene summary(Entrez)

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]

OMIM

300859

SNPs

rs2294021

Strand:    Allele origin:   Allele change: A/C/T   Mutation type: snp

CM000685.2   g.49249149T>A
CM000685.2   g.49249149T>C
NC_000023.10   g.49105610T>C
NC_000023.11   g.49249149T>A
NC_000023.11   g.49249149T>C
NG_007392.1   g.20679A>G
NG_007392.1   g.20679A>T
NG_021311.2   g.18685T>A
NG_021311.2   g.18685T>C
NM_014008.4   c.1540-18T>A
NM_014008.4   c.1540-18T>C
NW_004070880.2   g.1488578T>C
XR_430506.2   n.1638-18T>A
XR_430506.2   n.1638-18T>C
Clinical Significance: Benign

Protein Summary

Protein general information

O60826

Name: Coiled-coil domain-containing protein 22

Length: 627 Mass: 70,756

Tissue specificity: Widely expressed in adult tissues and in fetal liver and brain, with highest levels in prostate and lowest in skeletal muscle. {ECO

Sequence

MEEADRILIHSLRQAGTAVPPDVQTLRAFTTELVVEAVVRCLRVINPAVGSGLSPLLPLAMSARFRLAMSLAQAC
MDLGYPLELGYQNFLYPSEPDLRDLLLFLAERLPTDASEDADQPAGDSAILLRAIGSQIRDQLALPWVPPHLRTP
KLQHLQGSALQKPFHASRLVVPELSSRGEPREFQASPLLLPVPTQVPQPVGRVASLLEHHALQLCQQTGRDRPGD
EDWVHRTSRLPPQEDTRAQRQRLQKQLTEHLRQSWGLLGAPIQARDLGELLQAWGAGAKTGAPKGSRFTHSEKFT
FHLEPQAQATQVSDVPATSRRPEQVTWAAQEQELESLREQLEGVNRSIEEVEADMKTLGVSFVQAESECRHSKLS
TAEREQALRLKSRAVELLPDGTANLAKLQLVVENSAQRVIHLAGQWEKHRVPLLAEYRHLRKLQDCRELESSRRL
AEIQELHQSVRAAAEEARRKEEVYKQLMSELETLPRDVSRLAYTQRILEIVGNIRKQKEEITKILSDTKELQKEI
NSLSGKLDRTFAVTDELVFKDAKKDDAVRKAYKYLAALHENCSQLIQTIEDTGTIMREVRDLEEQIETELGKKTL
SNLEKIREDYRALRQENAGLLGRVREA

Structural information

Interpro:	IPR008530
Pfam:	PF05667
STRING:	ENSP00000365401;

Other Databases

GeneCards: CCDC22; Malacards: CCDC22

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005575	cellular_component	ND	cellular_component
GO:0005768	endosome	IEA	cellular_component
GO:0006878	cellular copper ion homeo stasis	IMP	biological_process
GO:0006893	Golgi to plasma membrane transport	IMP	biological_process
GO:0007253	cytoplasmic sequestering of NF-kappaB	IMP	biological_process
GO:0015031	protein transport	IEA	biological_process
GO:0043123	positive regulation of I- kappaB kinase/NF-kappaB s ignaling	IMP	biological_process
GO:0043124	negative regulation of I- kappaB kinase/NF-kappaB s ignaling	IMP	biological_process
GO:0097602	cullin family protein bin ding	IDA	molecular_function
GO:2000060	positive regulation of pr otein ubiquitination invo lved in ubiquitin-depende nt protein catabolic proc ess	IMP	biological_process
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005575	cellular_component	ND	cellular_component
GO:0005768	endosome	IEA	cellular_component
GO:0005768	endosome	IEA	cellular_component
GO:0006810	transport	IEA	biological_process
GO:0006878	cellular copper ion homeo stasis	IMP	biological_process
GO:0006893	Golgi to plasma membrane transport	IMP	biological_process
GO:0007253	cytoplasmic sequestering of NF-kappaB	IMP	biological_process
GO:0015031	protein transport	IEA	biological_process
GO:0043123	positive regulation of I- kappaB kinase/NF-kappaB s ignaling	IMP	biological_process
GO:0043124	negative regulation of I- kappaB kinase/NF-kappaB s ignaling	IMP	biological_process
GO:0097602	cullin family protein bin ding	IDA	molecular_function
GO:2000060	positive regulation of pr otein ubiquitination invo lved in ubiquitin-depende nt protein catabolic proc ess	IMP	biological_process
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005575	cellular_component	ND	cellular_component
GO:0006878	cellular copper ion homeo stasis	IMP	biological_process
GO:0006893	Golgi to plasma membrane transport	IMP	biological_process
GO:0007253	cytoplasmic sequestering of NF-kappaB	IMP	biological_process
GO:0043123	positive regulation of I- kappaB kinase/NF-kappaB s ignaling	IMP	biological_process
GO:0043124	negative regulation of I- kappaB kinase/NF-kappaB s ignaling	IMP	biological_process
GO:0097602	cullin family protein bin ding	IDA	molecular_function
GO:2000060	positive regulation of pr otein ubiquitination invo lved in ubiquitin-depende nt protein catabolic proc ess	IMP	biological_process

Diseases

Associated diseases	References
Endometriosis	INFBASE28470452
Ritscher-Schinzel syndrome 2	OMIM300859
3C syndrome	KEGGH01568

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
28470452	Endometrio sis	rs2294021	Brazili an	200 (100 women with endometrio sis, 100 women with benign dis orders)		TLR4 TNFA IL10 CCDC22	Show abstract