EFHC2

GENERAL INFORMATION

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Gene name

EFHC2

Gene description

EF-hand domain (C-terminal) containing 2

Protein class

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 (fallopian tube)
GTEx:Tissue enhanced (testis)

Protein evidence

Evidence at protein level

Protein localization

Gastric parietal cells, the adrenal gland and Leydig cells exhibited moderate to strong cytoplasmic positivity while alveolar cells displayed membranous positivity. Neural extensions in the CNS were strongly stained. The intestine and ciliated cells showed distinct positivity in bruch border and cilia. Remaining normal tissues 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.
HPA034492
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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

Cerebellum

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 (fallopian tube)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (testis)

Organ

Expression



GENE INFORMATION

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Gene name

EFHC2 (HGNC Symbol)

Synonyms

FLJ22843, MRX74

Description

EF-hand domain (C-terminal) containing 2 (HGNC Symbol)

Entrez gene summary

This gene encodes a protein which contains three DM10 domains and three calcium-binding EF-hand motifs. A related protein is encoded by a gene on chromosome 6. It has been suggested that both proteins are involved in the development of epilepsy (PMID: 15258581, 16112844) and that this gene may be associated with fear recognition in individuals with Turner syndrome. [provided by RefSeq, Aug 2011]

Chromosome

X

Cytoband

p11.3

Chromosome location (bp)

44147882 - 44343672

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000183690 (version 78.38)

Entrez gene

80258

UniProt

Q5JST6 (UniProt - Evidence at protein level)

neXtProt

NX_Q5JST6

Antibodypedia

EFHC2 antibodies


PROTEIN BROWSER

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ENST00000420999
 
 
 
 


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)

EFHC2-001 ENSP00000404232
ENST00000420999
Q5JST6
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