CCDC8

GENERAL INFORMATION

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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

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RNA tissue category

HPA:Tissue enhanced (ovary)
GTEx:Mixed

Protein evidence

Evidence at protein level

Protein localization

Normal tissues showed moderate to strong cytoplasmic positivity with a granular pattern.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 1 antibody.
HPA041993
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (ovary)

Organ

Expression

GTEx dataset
RNA tissue category:  Mixed

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

83987

UniProt

Q9H0W5 (UniProt - Evidence at protein level)

neXtProt

NX_Q9H0W5

Antibodypedia

CCDC8 antibodies


PROTEIN BROWSER

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ENST00000307522
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CCDC8-001 ENSP00000303158
ENST00000307522
Q9H0W5
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