CCDC22 - coiled-coil domain containing 22 Gene

Homo sapiens

Also known as JM1; RTSC2; CXorf37

Gene ID: 28952 | Gene type: protein coding

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

CCDC22 Protein Structure

DUF812

0
100
200
300
400
500
627 a.a.

Protein Preferred Names

Protein Names

coiled-coil domain-containing protein 22

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

Bioactive Molecules (1)

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

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