DIAPH2

GENERAL INFORMATION

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Gene name

DIAPH2

Gene description

Diaphanous-related formin 2

Protein class

Disease related genes
Plasma proteins
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

5
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Mixed

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression in most tissues, most abundant in testis, fallopian tube, endometrium and large intestine.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 4 antibodies.
HPA005647 , CAB015461 , CAB068183 , CAB068184
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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

Placenta



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:  Mixed

Organ

Expression



GENE INFORMATION

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Gene name

DIAPH2 (HGNC Symbol)

Synonyms

DIA, DIA2, POF, POF2

Description

Diaphanous-related formin 2 (HGNC Symbol)

Entrez gene summary

The product of this gene belongs to the diaphanous subfamily of the formin homology family of proteins. This gene may play a role in the development and normal function of the ovaries. Defects in this gene have been linked to premature ovarian failure 2. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

Chromosome

X

Cytoband

q21.33

Chromosome location (bp)

96684663 - 97604997

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000147202 (version 78.38)

Entrez gene

1730

UniProt

O60879 (UniProt - Evidence at protein level)

neXtProt

NX_O60879

Antibodypedia

DIAPH2 antibodies


PROTEIN BROWSER

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ENST00000324765
 
ENST00000355827
 
ENST00000373049
 
ENST00000373054
 
ENST00000373061
 
 
 
 


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)

DIAPH2-001 ENSP00000362140
ENST00000373049
O60879
Show all »
Show » Show » 1096 124.8 No 0
DIAPH2-002 ENSP00000321348
ENST00000324765
O60879
Show all »
Show » Show » 1101 125.6 No 0
DIAPH2-201 ENSP00000348082
ENST00000355827
A6NML8
Show all »
Show » Show » 1096 124.9 No 0
DIAPH2-202 ENSP00000362145
ENST00000373054
Show » Show » 1103 125.5 No 0
DIAPH2-203 ENSP00000362152
ENST00000373061
K4DI95
Show all »
Show » Show » 1101 125.6 No 0