CCDC22 - coiled-coil domain containing 22 Gene

Also Known as JM1; RTSC2; CXorf37

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 28952

About CCDC22

Cytogenetic location: Xp11.23 Genomic coordinates (GRCh38): X:49,235,470-49,250,520 (from NCBI)

This gene has 3 transcripts (splice variants), 197 orthologues and is associated with 3 phenotypes. Ubiquitous expression in spleen (RPKM 9.7), lymph node (RPKM 7.9) and 25 other tissues.

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]

CCDC22 Products (1)

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables cullin family protein binding	IDA IDA: Inferred from direct assay	23563313	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	23563313	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in Golgi to plasma membrane transport	IMP IMP: Inferred from mutant phenotype	25355947	GOA
involved in cytoplasmic sequestering of NF-kappaB	IMP IMP: Inferred from mutant phenotype	23563313	GOA
involved in endocytic recycling	IMP IMP: Inferred from mutant phenotype	28892079	GOA
involved in intracellular copper ion homeostasis	IMP IMP: Inferred from mutant phenotype	25355947	GOA
involved in negative regulation of canonical NF-kappaB signal transduction	IMP IMP: Inferred from mutant phenotype	23563313	GOA
involved in positive regulation of canonical NF-kappaB signal transduction	IMP IMP: Inferred from mutant phenotype	23563313	GOA
involved in positive regulation of ubiquitin-dependent protein catabolic process	IMP IMP: Inferred from mutant phenotype	23563313	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in centrosome	IDA IDA: Inferred from direct assay	26638075	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CCDC22 Protein Structure

DUF812

0
100
200
300
400
500
627 a.a.

Protein Preferred Names	Protein Names
coiled-coil domain-containing protein 22

CCDC22 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CCDC22	O60826	CCDC93	Homo sapiens	Q567U6	Anti Tag CoIP	26496610
Intra	CCDC22	O60826	CCDC93	Homo sapiens	Q567U6	Anti Bait CoIP	25355947
Intra	CCDC22	O60826	CCDC93	Homo sapiens	Q567U6	Anti Tag CoIP	25355947
Intra	CCDC22	O60826	CCDC93	Homo sapiens	Q567U6	GMS	37172566
Intra	CCDC22	O60826	CCDC93	Homo sapiens	Q567U6	3D-EM	37172566
Intra	CCDC22	O60826	CCDC93	Homo sapiens	Q567U6	Anti Tag CoIP	33961781
Intra	CCDC22	O60826	CCDC93	Homo sapiens	Q567U6	IF	25355947
Intra	CCDC22	O60826	CCDC93	Homo sapiens	Q567U6	Anti Tag CoIP	28514442
Intra	CCDC22	O60826	CCDC93	Homo sapiens	Q567U6	GMS	29778605
Intra	CCDC22	O60826	CCDC93	Homo sapiens	Q567U6	Anti Tag CoIP	29778605
Intra	CCDC22	O60826	CCDC93	Homo sapiens	Q567U6	ITC	37172566
Intra	CCDC22	O60826	CCDC93	Homo sapiens	Q567U6	Anti Tag CoIP	35271311
Intra	CCDC22	O60826	COMMD4	Homo sapiens	Q9H0A8	Anti Tag CoIP	26496610
Intra	CCDC22	O60826	COMMD4	Homo sapiens	Q9H0A8	Anti Tag CoIP	35271311
Intra	CCDC22	O60826	COMMD4	Homo sapiens	Q9H0A8	Pull Down	23563313
Intra	CCDC22	O60826	COMMD4	Homo sapiens	Q9H0A8	GMS	37172566
Intra	CCDC22	O60826	COMMD4	Homo sapiens	Q9H0A8	3D-EM	37172566
Intra	CCDC22	O60826	COMMD4	Homo sapiens	Q9H0A8	Anti Tag CoIP	23563313
Intra	CCDC22	O60826	COMMD4	Homo sapiens	Q9H0A8	Anti Tag CoIP	33961781
Intra	CCDC22	O60826	COMMD4	Homo sapiens	Q9H0A8	Anti Tag CoIP	28514442
Intra	CCDC22	O60826	COMMD6	Homo sapiens	Q7Z4G1	Anti Tag CoIP	33961781
Intra	CCDC22	O60826	COMMD6	Homo sapiens	Q7Z4G1	GMS	37172566
Intra	CCDC22	O60826	COMMD6	Homo sapiens	Q7Z4G1	3D-EM	37172566
Intra	CCDC22	O60826	COMMD6	Homo sapiens	Q7Z4G1	Anti Tag CoIP	23563313
Intra	CCDC22	O60826	COMMD6	Homo sapiens	Q7Z4G1	Anti Tag CoIP	26496610
Intra	CCDC22	O60826	COMMD6	Homo sapiens	Q7Z4G1	Anti Tag CoIP	35271311
Intra	CCDC22	O60826	COMMD1	Homo sapiens	Q8N668	IF	25355947
Intra	CCDC22	O60826	COMMD1	Homo sapiens	Q8N668	GMS	29778605
Intra	CCDC22	O60826	COMMD1	Homo sapiens	Q8N668	Anti Tag CoIP	29778605
Intra	CCDC22	O60826	COMMD1	Homo sapiens	Q8N668	Anti Bait CoIP	23563313
Intra	CCDC22	O60826	COMMD1	Homo sapiens	Q8N668	Pull Down	23563313
Intra	CCDC22	O60826	COMMD1	Homo sapiens	Q8N668	Anti Tag CoIP	35271311
Intra	CCDC22	O60826	COMMD1	Homo sapiens	Q8N668	Anti Tag CoIP	23563313
Intra	CCDC22	O60826	COMMD1	Homo sapiens	Q8N668	Anti Tag CoIP	37172566
Intra	CCDC22	O60826	COMMD1	Homo sapiens	Q8N668	Anti Bait CoIP	25355947
Intra	CCDC22	O60826	COMMD1	Homo sapiens	Q8N668	Anti Tag CoIP	25355947
Intra	CCDC22	O60826	COMMD1	Homo sapiens	Q8N668	GMS	37172566
Intra	CCDC22	O60826	COMMD1	Homo sapiens	Q8N668	3D-EM	37172566
Intra	CCDC22	O60826	COMMD1	Homo sapiens	Q8N668	Anti Tag CoIP	26496610
Intra	CCDC22	O60826	COMMD1	Homo sapiens	Q8N668	Anti Tag CoIP	33961781
Intra	CCDC22	O60826	COMMD1	Homo sapiens	Q8N668	Confocal	23563313
Intra	CCDC22	O60826	COMMD2	Homo sapiens	Q86X83	Anti Tag CoIP	33961781
Intra	CCDC22	O60826	COMMD2	Homo sapiens	Q86X83	GMS	37172566
Intra	CCDC22	O60826	COMMD2	Homo sapiens	Q86X83	Anti Tag CoIP	35271311
Intra	CCDC22	O60826	COMMD2	Homo sapiens	Q86X83	Anti Tag CoIP	23563313
Intra	CCDC22	O60826	COMMD2	Homo sapiens	Q86X83	3D-EM	37172566
Intra	CCDC22	O60826	COMMD2	Homo sapiens	Q86X83	Anti Tag CoIP	26496610
Intra	CCDC22	O60826	COMMD5	Homo sapiens	Q9GZQ3	Anti Tag CoIP	23563313
Intra	CCDC22	O60826	COMMD5	Homo sapiens	Q9GZQ3	Anti Tag CoIP	35271311
Intra	CCDC22	O60826	COMMD5	Homo sapiens	Q9GZQ3	3D-EM	37172566
Intra	CCDC22	O60826	COMMD5	Homo sapiens	Q9GZQ3	Anti Tag CoIP	26496610
Intra	CCDC22	O60826	COMMD5	Homo sapiens	Q9GZQ3	Anti Tag CoIP	28514442
Intra	CCDC22	O60826	COMMD5	Homo sapiens	Q9GZQ3	Anti Tag CoIP	33961781
Intra	CCDC22	O60826	COMMD5	Homo sapiens	Q9GZQ3	GMS	37172566
Intra	CCDC22	O60826	COMMD7	Homo sapiens	Q86VX2	Anti Tag CoIP	35271311
Intra	CCDC22	O60826	COMMD7	Homo sapiens	Q86VX2	Anti Tag CoIP	23563313
Intra	CCDC22	O60826	COMMD7	Homo sapiens	Q86VX2	GMS	37172566
Intra	CCDC22	O60826	COMMD7	Homo sapiens	Q86VX2	3D-EM	37172566
Intra	CCDC22	O60826	COMMD7	Homo sapiens	Q86VX2	Anti Tag CoIP	33961781
Intra	CCDC22	O60826	COMMD10	Homo sapiens	Q9Y6G5	GMS	37172566
Intra	CCDC22	O60826	COMMD10	Homo sapiens	Q9Y6G5	Anti Tag CoIP	33961781
Intra	CCDC22	O60826	COMMD10	Homo sapiens	Q9Y6G5	Anti Bait CoIP	23563313
Intra	CCDC22	O60826	COMMD10	Homo sapiens	Q9Y6G5	Anti Tag CoIP	26496610
Intra	CCDC22	O60826	COMMD10	Homo sapiens	Q9Y6G5	3D-EM	37172566
Intra	CCDC22	O60826	COMMD10	Homo sapiens	Q9Y6G5	Anti Tag CoIP	35271311
Intra	CCDC22	O60826	COMMD10	Homo sapiens	Q9Y6G5	Anti Tag CoIP	23563313
Intra	CCDC22	O60826	COMMD9	Homo sapiens	Q9P000	Anti Tag CoIP	33961781
Intra	CCDC22	O60826	COMMD9	Homo sapiens	Q9P000	Anti Tag CoIP	28514442
Intra	CCDC22	O60826	COMMD9	Homo sapiens	Q9P000	Anti Tag CoIP	35271311
Intra	CCDC22	O60826	COMMD9	Homo sapiens	Q9P000	Anti Tag CoIP	23563313
Intra	CCDC22	O60826	COMMD9	Homo sapiens	Q9P000	Anti Bait CoIP	23563313
Intra	CCDC22	O60826	COMMD9	Homo sapiens	Q9P000	GMS	37172566
Intra	CCDC22	O60826	COMMD9	Homo sapiens	Q9P000	3D-EM	37172566
Intra	CCDC22	O60826	COMMD9	Homo sapiens	Q9P000	Anti Tag CoIP	26496610
Intra	CCDC22	O60826	COMMD9	Homo sapiens	Q9P000	Pull Down	23563313
Intra	CCDC22	O60826	ARSA	Homo sapiens	P15289	Y2H Prey Pooling	32296183
Intra	CCDC22	O60826	ARSA	Homo sapiens	P15289	Validated Y2H	32296183
Intra	CCDC22	O60826	ARSA	Homo sapiens	P15289	Y2H Array	32296183
Intra	CCDC22	O60826	WASHC2A	Homo sapiens	Q641Q2	Anti Bait CoIP	25355947
Intra	CCDC22	O60826	KRT27	Homo sapiens	Q7Z3Y8	Validated Y2H	32296183
Intra	CCDC22	O60826	KRT27	Homo sapiens	Q7Z3Y8	Y2H Array	32296183
Intra	CCDC22	O60826	KRT27	Homo sapiens	Q7Z3Y8	Y2H Prey Pooling	32296183
Intra	CCDC22	O60826	ACTG1	Homo sapiens	P63261	Y2H Prey Pooling	25416956
Intra	CCDC22	O60826	ACTG1	Homo sapiens	P63261	Y2H Array	25416956
Intra	CCDC22	O60826	CUL1	Homo sapiens	Q13616	Anti Bait CoIP	23563313
Intra	CCDC22	O60826	CUL1	Homo sapiens	Q13616	Anti Tag CoIP	23563313
Intra	CCDC22	O60826	CUL1	Homo sapiens	Q13616	Pull Down	23563313
Intra	CCDC22	O60826	CUL3	Homo sapiens	Q13618	Anti Bait CoIP	23563313
Intra	CCDC22	O60826	OIP5	Homo sapiens	O43482	Y2H Array	32296183
Intra	CCDC22	O60826	OIP5	Homo sapiens	O43482	Y2H Prey Pooling	32296183
Intra	CCDC22	O60826	COMMD3	Homo sapiens	Q9UBI1	Anti Tag CoIP	33961781
Intra	CCDC22	O60826	COMMD3	Homo sapiens	Q9UBI1	Anti Tag CoIP	23563313
Intra	CCDC22	O60826	COMMD3	Homo sapiens	Q9UBI1	Anti Tag CoIP	26496610
Intra	CCDC22	O60826	COMMD3	Homo sapiens	Q9UBI1	GMS	37172566
Intra	CCDC22	O60826	COMMD3	Homo sapiens	Q9UBI1	3D-EM	37172566
Intra	CCDC22	O60826	COMMD3	Homo sapiens	Q9UBI1	Pull Down	23563313
Intra	CCDC22	O60826	COMMD3	Homo sapiens	Q9UBI1	Anti Tag CoIP	28514442
Intra	CCDC22	O60826	COMMD8	Homo sapiens	Q9NX08	Anti Tag CoIP	35271311
Intra	CCDC22	O60826	COMMD8	Homo sapiens	Q9NX08	Anti Tag CoIP	23563313
Intra	CCDC22	O60826	COMMD8	Homo sapiens	Q9NX08	Anti Tag CoIP	33961781
Intra	CCDC22	O60826	COMMD8	Homo sapiens	Q9NX08	Anti Tag CoIP	26496610
Intra	CCDC22	O60826	COMMD8	Homo sapiens	Q9NX08	GMS	37172566
Intra	CCDC22	O60826	COMMD8	Homo sapiens	Q9NX08	3D-EM	37172566
Intra	CCDC22	O60826	COMMD8	Homo sapiens	Q9NX08	Pull Down	23563313
Intra	CCDC22	O60826	USHBP1	Homo sapiens	Q8N6Y0	Validated Y2H	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Ritscher-Schinzel Syndrome 2	RTSC2
Ritscher-Schinzel Syndrome 1	3c Syndrome Craniocerebellocardiac Dysplasia RTSC1 Dandy-Walker-Like Malformation With Atrioventricular Septal Defect Dandy-Walker Like Malformation With Atrioventricular Septal Defect Cranio-Cerebello-Cardiac Dysplasia Dandy-Walker-Like Malformation With Asd Ritscher Schinzel Syndrome Ritscher-Schinzel Cranio-Cerebello-Cardiac Syndrome Ritscher-Schinzel Syndrome 3c
Ritscher-Schinzel Syndrome	3c Syndrome Ccc Dysplasia Craniocerebellocardiac Dysplasia Cranio-Cerebello-Cardiac Dysplasia
Syndromic X-Linked Intellectual Disability	X-Linked Syndromic Intellectual Disability
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma	Mednik Syndrome Erythrokeratodermia Variabilis 3 MEDNIK Ekv3 Erythrokeratodermia Variabilis, Kamouraska Type Mental Retardation, Enteropathy, Deafness, Neuropathy, Ichthyosis, Keratodermia Intellectual Disability-Enteropathy-Deafness-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome Intellectual Disability-Enteropathy-Hearing Loss-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome Intellectual Disability, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma Erythrokeratodermia Variabilis Kamouraska Type Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, Keratoderma

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02039	CCDC22 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	CCDC22	RGD	RGD:1560910
Canis familiaris	CCDC22	VGNC	VGNC:38828
Bos taurus	CCDC22	VGNC	VGNC:26886
Mus musculus	CCDC22	MGD	MGI:1859608
Macaca mulatta	CCDC22	VGNC	VGNC:70899
Felis catus	CCDC22	VGNC	VGNC:60491
Others	CCDC22	NCBI