DIAPH3

GENERAL INFORMATION

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Gene name

DIAPH3

Gene description

Diaphanous-related formin 3

Protein class

Cancer-related genes
Disease related genes
Plasma proteins
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

7
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enhanced (testis)
GTEx:Tissue enriched (testis)

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression in several tissues.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 2 antibodies.
HPA032151 , HPA032152
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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



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (testis)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enriched (testis)

Organ

Expression



GENE INFORMATION

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Gene name

DIAPH3 (HGNC Symbol)

Synonyms

AN, AUNA1, DRF3, FLJ34705, NSDAN

Description

Diaphanous-related formin 3 (HGNC Symbol)

Entrez gene summary

This gene encodes a member of the diaphanous subfamily of the formin family. Members of this family are involved in actin remodeling and regulate cell movement and adhesion. Mutations in this gene are associated with autosomal dominant auditory neuropathy 1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

Chromosome

13

Cytoband

q21.2

Chromosome location (bp)

59665583 - 60163987

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000139734 (version 78.38)

Entrez gene

81624

UniProt

Q9NSV4 (UniProt - Evidence at protein level)

neXtProt

NX_Q9NSV4

Antibodypedia

DIAPH3 antibodies


PROTEIN BROWSER

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ENST00000267215
 
ENST00000377908
 
ENST00000400319
 
ENST00000400320
 
ENST00000400324
 
ENST00000465066
 
ENST00000498416
 
 
 
 


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)

DIAPH3-001 ENSP00000383178
ENST00000400324
Q9NSV4
Show all »
Show » Show » 1193 136.9 No 0
DIAPH3-002 ENSP00000479091
ENST00000498416
Q9NSV4
Show all »
Show » Show » 691 79.4 No 0
DIAPH3-003 ENSP00000267215
ENST00000267215
Q9NSV4
Show all »
Show » Show » 1112 127.9 No 0
DIAPH3-005 ENSP00000367141
ENST00000377908
Q9NSV4
Show all »
Show » Show » 1182 135.6 No 0
DIAPH3-006 ENSP00000383173
ENST00000400319
Q9NSV4
Show all »
Show » Show » 1123 129 No 0
DIAPH3-007 ENSP00000383174
ENST00000400320
Q9NSV4
Show all »
Show » Show » 1147 131.5 No 0
DIAPH3-008 ENSP00000478137
ENST00000465066
Q9NSV4
Show all »
Show » Show » 849 98.1 No 0