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CCDC8

GENERAL INFORMATION

Gene name

 CCDC8

Gene description

 Coiled-coil domain containing 8

Protein class

 Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 1
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enhanced (ovary)
GTEx:Mixed
FANTOM5:Mixed

Protein evidence

 Evidence at protein level

Protein expression

 Estimation of protein expression could not be performed. View primary data.

DATA RELIABILITY

Data reliability
description

 RNA-based expert annotation gave inconclusive results. Pending external verification.

Reliability score

 Uncertain based on 1 antibody.
HPA041993
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
N/A
Hippocampus
N/A
N/A
Caudate
N/A
N/A
Cerebellum
N/A
N/A
Endocrine tissues
N/A
Bone marrow & immune system
N/A
Appendix
N/A
Tonsil
N/A
Spleen
N/A
Muscle tissues
N/A
Lung
N/A
Nasopharynx
N/A
N/A
Bronchus
N/A
N/A
Lung
N/A
Liver & gallbladder
N/A
Liver
N/A
Pancreas
N/A
Pancreas
N/A
Gastrointestinal tract
N/A
Oral mucosa
N/A
N/A
Esophagus
N/A
Stomach
N/A
Duodenum
N/A
Colon
N/A
Rectum
N/A
Kidney & urinary bladder
N/A
Kidney
N/A
Male tissues
N/A
Testis
N/A
Prostate
N/A
Female tissues
N/A
Breast
N/A
Vagina
N/A
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Soft tissue
N/A
N/A
Skin
N/A
Skin
N/A
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
RNA-based expert annotation could not be performed, due to inconclusive results. View immunohistochemistry primary data.

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (ovary)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed

GENE INFORMATION

Gene name

 CCDC8 (HGNC Symbol)

Synonyms

 3M3, DKFZp564K0322, PPP1R20

Description

 Coiled-coil domain containing 8 (HGNC Symbol)

Entrez gene 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]

Chromosome

 19

Cytoband

 q13.32

Chromosome location (bp)

 46410372 - 46413584

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000169515 (version 83.38)

Entrez gene

 83987

UniProt

 Q9H0W5 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9H0W5

Antibodypedia

 CCDC8 antibodies

PROTEIN BROWSER
CCDC8-001

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
CCDC8-001
ENSP00000303158
ENST00000307522
Q9H0W5 [Direct mapping]
Coiled-coil domain-containing protein 8
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Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000226 [microtubule cytoskeleton organization]
GO:0005737 [cytoplasm]
GO:0005813 [centrosome]
GO:0005886 [plasma membrane]
GO:0007088 [regulation of mitotic nuclear division]
GO:0010923 [negative regulation of phosphatase activity]
GO:1990393 [3M complex]
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 538 aa
59.4 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.