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CCDC8 - coiled-coil domain containing 8 Gene

Also Known as 3M3; p90; PPP1R20

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 83987

About CCDC8

Cytogenetic location: 19q13.32 Genomic coordinates (GRCh38): 19:46,410,329-46,413,564 (from NCBI)

This gene has 2 transcripts (splice variants), 581 orthologues, 13 paralogues and is associated with 3 phenotypes.

Summary

This gene encodes a coiled-coil domain-containing protein. The encoded protein functions as a cofactor required for p53-mediated Apoptosis following DNA damage, and may also play a role in growth through interactions with the cytoskeletal adaptor protein obscurin-like 1. Mutations in this gene are a cause of 3M syndrome-3 (3M3). [provided by RefSeq, Dec 2011]

CCDC8 Products (1)

mRNA	Protein	Name
NM_032040.5	NP_114429.2	coiled-coil domain-containing protein 8

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25752541	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in microtubule cytoskeleton organization	IMP IMP: Inferred from mutant phenotype	24793695	GOA
involved in regulation of mitotic nuclear division	IMP IMP: Inferred from mutant phenotype	24793695	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of 3M complex	IDA IDA: Inferred from direct assay	24793695	GOA
located in centrosome	IDA IDA: Inferred from direct assay	24793695	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	24793695	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

CCDC8 Protein Structure

PNMA

0
100
200
300
400
500
538 a.a.

Protein Preferred Names	Protein Names
coiled-coil domain-containing protein 8	protein phosphatase 1, regulatory subunit 20

CCDC8 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CCDC8	Q9H0W5	ANKRA2	Homo sapiens	Q9H9E1	ITC	25752541
Intra	CCDC8	Q9H0W5	ANKRA2	Homo sapiens	Q9H9E1	X-Ray Diffraction	25752541

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Three M Syndrome 3	3m Syndrome 3 3M3 3-M Syndrome 3 3m Syndrome-3 3m Syndrome, Type 3
Three M Syndrome 1	3-M Syndrome Yakut Short Stature Syndrome 3m Syndrome Le Merrer Syndrome Dolichospondylic Dysplasia Gloomy Face Syndrome Three M Syndrome 3M1 3m Syndrome 1 Miller-Mckusick-Malvaux Syndrome 3-Msbn Three-M Slender-Boned Nanism Miller-Mckusick-Malvaux-Syndrome 3-M Syndrome 1 3m Syndrome-1 3m Syndrome, Type 1 Dwarfism Dwarfism Tall Vertebrae
Klippel-Feil Syndrome 1
Spastic Paraplegia 17, Autosomal Dominant	Silver Syndrome SPG17 Silver Spastic Paraplegia Syndrome Spastic Paraplegia With Amyotrophy Of Hands And Feet Hereditary Spastic Paraplegia 17 Autosomal Dominant Spastic Paraplegia Type 17 Spastic Paraplegia 17 Spastic Paraplegia-Amyotrophy Of Hands And Feet Autosomal Dominant Spastic Paraplegia 17 Dhmn5b Distal Hereditary Motor Neuropathy Type 5b Paraplegia, Spastic, Autosomal Dominant, Type 17 Russell-Silver Syndrome Neuronopathy, Distal Hereditary Motor, Type Vb
Mulibrey Nanism	MUL Muscle-Liver-Brain-Eye Nanism Pericardial Constriction And Growth Failure Perheentupa Syndrome Mulibrey Growth Disorder Mulibrey Nanism Syndrome Pericardial Constriction With Growth Failure Nanism Mulibrey
Spina Bifida Occulta
Skin Tag	Fibroepithelial Polyp Fibroepithelial Polyp Of Skin Soft Fibroma Skin Tags Cutaneous Tag Gardner Fibroma Acrochordon Fibroma Molle
Silver-Russell Syndrome 1	Silver-Russell Syndrome Russell-Silver Syndrome Silver-Russell Dwarfism Rss SRS1 Srs Silver Russell Dwarfism Russell Silver Syndrome Silver Russell Syndrome
Isolated Growth Hormone Deficiency, Type Ia	Ighd Ia Primordial Dwarfism Isolated Growth Hormone Deficiency Type Ia Sexual Ateleiotic Dwarfism Pituitary Dwarfism I IGHD1A Illig-Type Growth Hormone Deficiency Growth Hormone Deficiency, Isolated, Type Ia Congenital Ighd Type Ia Congenital Isolated Gh Deficiency Type Ia Congenital Isolated Growth Hormone Deficiency Type Ia Pituitary Dwarfism 1 Growth Hormone Deficiency, Isolated, Autosomal Recessive Autosomal Recessive Isolated Growth Hormone Deficiency Isolated Growth Hormone Deficiency Type 1a Congenital Ighd Congenital Isolated Gh Deficiency Congenital Isolated Growth Hormone Deficiency Growth Hormone Deficiency, Isolated Autosomal Recessive Illig Type Growth Hormone Deficiency Non-Acquired Isolated Growth Hormone Deficiency Growth Hormone Deficiency, Isolated, 1a Growth Hormone Deficiency Isolated Autosomal Recessive Dwarfism, Primordial Dwarfism
Seckel Syndrome	Microcephalic Primordial Dwarfism Bird-Headed Dwarfism Harper'S Syndrome Virchow-Seckel Dwarfism Nanocephalic Dwarfism Sckl Seckel-Type Dwarfism

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-RS02057	CCDC8 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	CCDC8	VGNC	VGNC:38857
Bos taurus	CCDC8	VGNC	VGNC:26917
Rattus norvegicus	CCDC8	RGD	RGD:1359717
Mus musculus	CCDC8	MGD	MGI:3612184
Macaca mulatta	CCDC8	VGNC	VGNC:70858
Others	CCDC8	NCBI