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DIAPH2

GENERAL INFORMATION

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

RNA tissue category
HPA:Expressed in all
GTEx:Mixed
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

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

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Supported based on 4 antibodies.
HPA005647 , CAB015461 , CAB068183 , CAB068184
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Placenta

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

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 83.38)

Entrez gene

 1730

UniProt

 O60879 (UniProt - Evidence at protein level)

neXtProt

 NX_O60879

Antibodypedia

 DIAPH2 antibodies

PROTEIN BROWSER
DIAPH2-001
DIAPH2-002
DIAPH2-201
DIAPH2-202
DIAPH2-203

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
DIAPH2-001
ENSP00000362140
ENST00000373049
O60879 [Direct mapping]
Protein diaphanous homolog 2
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000910 [cytokinesis]
GO:0003779 [actin binding]
GO:0005102 [receptor binding]
GO:0005488 [binding]
GO:0005730 [nucleolus]
GO:0005739 [mitochondrion]
GO:0005769 [early endosome]
GO:0005794 [Golgi apparatus]
GO:0005829 [cytosol]
GO:0007264 [small GTPase mediated signal transduction]
GO:0007275 [multicellular organismal development]
GO:0007292 [female gamete generation]
GO:0016043 [cellular component organization]
GO:0017048 [Rho GTPase binding]
GO:0030036 [actin cytoskeleton organization]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0048477 [oogenesis]
Show all
 1096 aa
124.8 kDa 		No 0
DIAPH2-002
ENSP00000321348
ENST00000324765
O60879 [Direct mapping]
Protein diaphanous homolog 2
Show all
Predicted intracellular proteins
Plasma proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000910 [cytokinesis]
GO:0003779 [actin binding]
GO:0005102 [receptor binding]
GO:0005488 [binding]
GO:0005730 [nucleolus]
GO:0005739 [mitochondrion]
GO:0005769 [early endosome]
GO:0005794 [Golgi apparatus]
GO:0005829 [cytosol]
GO:0007264 [small GTPase mediated signal transduction]
GO:0007275 [multicellular organismal development]
GO:0007292 [female gamete generation]
GO:0016043 [cellular component organization]
GO:0017048 [Rho GTPase binding]
GO:0030036 [actin cytoskeleton organization]
GO:0030041 [actin filament polymerization]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0048477 [oogenesis]
Show all
 1101 aa
125.6 kDa 		No 0
DIAPH2-201
ENSP00000348082
ENST00000355827
A6NML8 [Direct mapping]
Diaphanous homolog 2 (Drosophila), isoform CRA_c; Protein diaphanous homolog 2
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   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005488 [binding]
GO:0005730 [nucleolus]
GO:0005739 [mitochondrion]
GO:0005794 [Golgi apparatus]
GO:0007015 [actin filament organization]
GO:0007292 [female gamete generation]
GO:0016043 [cellular component organization]
GO:0017048 [Rho GTPase binding]
GO:0030036 [actin cytoskeleton organization]
GO:0043231 [intracellular membrane-bounded organelle]
Show all
 1096 aa
124.9 kDa 		No 0
DIAPH2-202
ENSP00000362145
ENST00000373054
C9J6U3 [Direct mapping]
Protein diaphanous homolog 2
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005488 [binding]
GO:0005730 [nucleolus]
GO:0005739 [mitochondrion]
GO:0005794 [Golgi apparatus]
GO:0007015 [actin filament organization]
GO:0007292 [female gamete generation]
GO:0016043 [cellular component organization]
GO:0017048 [Rho GTPase binding]
GO:0030036 [actin cytoskeleton organization]
GO:0043231 [intracellular membrane-bounded organelle]
Show all
 1103 aa
125.5 kDa 		No 0
DIAPH2-203
ENSP00000362152
ENST00000373061
K4DI95 [Direct mapping]
Diaphanous homolog 2 (Drosophila), isoform CRA_a; Protein diaphanous homolog 2
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005488 [binding]
GO:0005730 [nucleolus]
GO:0005739 [mitochondrion]
GO:0005794 [Golgi apparatus]
GO:0007015 [actin filament organization]
GO:0007292 [female gamete generation]
GO:0016043 [cellular component organization]
GO:0017048 [Rho GTPase binding]
GO:0030036 [actin cytoskeleton organization]
GO:0043231 [intracellular membrane-bounded organelle]
Show all
 1101 aa
125.6 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.