CHCHD10

GENERAL INFORMATION

? »

Gene name

CHCHD10

Gene description

Coiled-coil-helix-coiled-coil-helix domain containing 10

Protein class

Disease related genes
Mitochondrial proteins
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

3
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

? »

RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Moderate to strong, partly granular, cytoplasmic positivity was found mainly in glandular cells of the GI-tract, distal tubules of the kidney and liver hepatocytes. Moderate granular immunoreactivity was also evident in neuronal cells in the brain, follicle center cells in lymphoid tissue and myocytes from heart and skeletal muscle. In prostate glands, basal cells were positive. Remaining normal cells were weakly stained or negative.

ANTIBODY RELIABILITY

? »

Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA003440
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY

? »
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

Small intestine

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

? »

Organ

Expression



RNA EXPRESSION OVERVIEW

? »
HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

? »

Gene name

CHCHD10 (HGNC Symbol)

Synonyms

C22orf16, N27C7-4

Description

Coiled-coil-helix-coiled-coil-helix domain containing 10 (HGNC Symbol)

Entrez gene summary

This gene encodes a mitochondrial protein that is enriched at cristae junctions in the intermembrane space. It may play a role in cristae morphology maintenance or oxidative phosphorylation. Mutations in this gene cause frontotemporal dementia and/or amyotrophic lateral sclerosis-2. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 7 and 19. [provided by RefSeq, Aug 2014]

Chromosome

22

Cytoband

q11.23

Chromosome location (bp)

23765834 - 23768443

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000250479 (version 78.38)

Entrez gene

400916

UniProt

Q8WYQ3 (UniProt - Evidence at protein level)

neXtProt

NX_Q8WYQ3

Antibodypedia

CHCHD10 antibodies


PROTEIN BROWSER

? »
 
 
 
ENST00000401675
 
ENST00000484558
 
ENST00000520222
 
 
 
 


PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CHCHD10-001 ENSP00000418428
ENST00000484558
Q8WYQ3
Show all »
Show » Show » 142 14.1 No 0
CHCHD10-002 ENSP00000384973
ENST00000401675
B5MBW9
Show all »
Show » 149 14.9 No 0
CHCHD10-005 ENSP00000430042
ENST00000520222
E5RH03
Show all »
Show » 55 5.8 No 0