CCDC50

GENERAL INFORMATION

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Gene name

CCDC50

Gene description

Coiled-coil domain containing 50

Protein class

Disease related genes
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

2
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Lymphoid cells and a sub-set of cells in CNS showed moderate to strong cytoplasmic positivity. Remaining normal cells were weakly stained or negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA001336
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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
Nasopharynx
N/A
N/A
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Rectum

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

CCDC50 (HGNC Symbol)

Synonyms

C3orf6, DFNA44, Ymer

Description

Coiled-coil domain containing 50 (HGNC Symbol)

Entrez gene summary

This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expressed in the inner ear during development and postnatal maturation and associates with microtubule-based structures. This protein may also function as a negative regulator of NF-kB signaling and as an effector of epidermal growth factor (EGF)-mediated cell signaling. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]

Chromosome

3

Cytoband

q28

Chromosome location (bp)

191329077 - 191398670

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000152492 (version 78.38)

Entrez gene

152137

UniProt

Q8IVM0 (UniProt - Evidence at protein level)

neXtProt

NX_Q8IVM0

Antibodypedia

CCDC50 antibodies


PROTEIN BROWSER

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ENST00000392455
 
ENST00000392456
 
 
 
 


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)

CCDC50-001 ENSP00000376249
ENST00000392455
Q8IVM0
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Show » Show » 306 35.8 No 0
CCDC50-002 ENSP00000376250
ENST00000392456
Q8IVM0
Show all »
Show » Show » 482 56.3 No 0