DIAPH3 diaphanous related formin 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DIAPH3provided by HGNC
Official Full Name: diaphanous related formin 3provided by HGNC
Primary source: HGNC:HGNC:15480
See related: Ensembl:ENSG00000139734 MIM:614567; AllianceGenome:HGNC:15480
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AN; DIA2; DRF3; AUNA1; NSDAN; diap3; mDia2
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]
Expression: Broad expression in testis (RPKM 3.1), placenta (RPKM 1.0) and 14 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 13q21.2

Exon count:: 38

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (59665583..60163928, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (58885077..59383567, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (60239717..60738062, complement)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Super Enhancer-Regulated LncRNA LINC01089 Induces Alternative Splicing of DIAPH3 to Drive Hepatocellular Carcinoma Metastasis.
Title: Super Enhancer-Regulated LncRNA LINC01089 Induces Alternative Splicing of DIAPH3 to Drive Hepatocellular Carcinoma Metastasis.
The pan-cancer analysis identified DIAPH3 as a diagnostic biomarker of clinical cancer.
Title: The pan-cancer analysis identified DIAPH3 as a diagnostic biomarker of clinical cancer.
DIAPH3 condensates formed by liquid-liquid phase separation act as a regulatory hub for stress-induced actin cytoskeleton remodeling.
Title: DIAPH3 condensates formed by liquid-liquid phase separation act as a regulatory hub for stress-induced actin cytoskeleton remodeling.
DIAPH3 is a prognostic biomarker and inhibit colorectal cancer progression through maintaining EGFR degradation.
Title: DIAPH3 is a prognostic biomarker and inhibit colorectal cancer progression through maintaining EGFR degradation.
Diaph3 underlines tumor cell heterogeneity in glioblastoma with implications for treatment modalities resistance.
Title: Diaph3 underlines tumor cell heterogeneity in glioblastoma with implications for treatment modalities resistance.
DIAPH3 promotes pancreatic cancer progression by activating selenoprotein TrxR1-mediated antioxidant effects.
Title: DIAPH3 promotes pancreatic cancer progression by activating selenoprotein TrxR1-mediated antioxidant effects.
Novel stromal biomarker screening in pancreatic cancer patients using the in vitro cancer-stromal interaction model.
Title: Novel stromal biomarker screening in pancreatic cancer patients using the in vitro cancer-stromal interaction model.
Tropomyosin concentration but not formin nucleators mDia1 and mDia3 determines the level of tropomyosin incorporation into actin filaments.
Title: Tropomyosin concentration but not formin nucleators mDia1 and mDia3 determines the level of tropomyosin incorporation into actin filaments.
The oncogenic roles of DIAPH3 in the tumorigenesis of lung cance.
Title: DIAPH3 promotes the tumorigenesis of lung adenocarcinoma.
through profilin-1 binding, CLIC4 functions in a RhoA-mDia2-regulated signaling network to integrate cortical actin assembly and membrane protrusion
Title: Profilin binding couples chloride intracellular channel protein CLIC4 to RhoA-mDia2 signaling and filopodium formation.

Submit: New GeneRIF Correction See all GeneRIFs (30)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Autosomal dominant auditory neuropathy 1 MedGen: C1836743 OMIM: 609129 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AFM263yd1 (e-PCR), detects polymorphism
- UniSTS:92430

RH44715 (e-PCR)
- UniSTS:81189

RH103507 (e-PCR)
- UniSTS:97832

SHGC-110672 (e-PCR)
- UniSTS:167976

G59349 (e-PCR)
- UniSTS:136514

SHGC-111284 (e-PCR)
- UniSTS:168278

RH92288 (e-PCR)
- UniSTS:92763

D13S632 (e-PCR)
- UniSTS:149362

SHGC-105559 (e-PCR)
- UniSTS:169340

RH93284 (e-PCR)
- UniSTS:85655

SGC33707 (e-PCR)
- UniSTS:28823

RH92956 (e-PCR)
- UniSTS:83617

SHGC-111130 (e-PCR)
- UniSTS:168160

SHGC-79449 (e-PCR)
- UniSTS:182752

G65581 (e-PCR)
- UniSTS:225514

D13S176 (e-PCR), detects polymorphism
- UniSTS:39423

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin binding	IEA Inferred from Electronic Annotation more info
enables cadherin binding	HDA more info	PubMed
enables microtubule binding	IEA Inferred from Electronic Annotation more info
enables protein homodimerization activity	IEA Inferred from Electronic Annotation more info
enables small GTPase binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in actin crosslink formation	IEA Inferred from Electronic Annotation more info
involved_in actin cytoskeleton organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in actin filament bundle assembly	IEA Inferred from Electronic Annotation more info
involved_in actin filament polymerization	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin filament polymerization	ISS Inferred from Sequence or Structural Similarity more info
involved_in actin nucleation	IEA Inferred from Electronic Annotation more info
involved_in autophagosome-lysosome fusion	IEA Inferred from Electronic Annotation more info
involved_in cell projection organization	IEA Inferred from Electronic Annotation more info
involved_in chromosome segregation	IEA Inferred from Electronic Annotation more info
involved_in cytoskeleton organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in endosomal transport	IEA Inferred from Electronic Annotation more info
involved_in erythrocyte enucleation	IEA Inferred from Electronic Annotation more info
involved_in establishment of cell polarity	IEA Inferred from Electronic Annotation more info
involved_in gene expression	IEA Inferred from Electronic Annotation more info
involved_in head development	IEA Inferred from Electronic Annotation more info
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
involved_in inner ear receptor cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in integrin-mediated signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in macrophage differentiation	IEA Inferred from Electronic Annotation more info
involved_in microtubule polymerization	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of microtubule depolymerization	IEA Inferred from Electronic Annotation more info
involved_in podosome assembly	IEA Inferred from Electronic Annotation more info
involved_in protein-containing complex remodeling	IEA Inferred from Electronic Annotation more info
involved_in sensory perception of sound	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of ESCRT I complex	IEA Inferred from Electronic Annotation more info
is_active_in actin filament	IBA Inferred from Biological aspect of Ancestor more info
located_in actin filament bundle	IEA Inferred from Electronic Annotation more info
located_in cleavage furrow	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	TAS Traceable Author Statement more info
part_of filamentous actin	IEA Inferred from Electronic Annotation more info
located_in microtubule organizing center	IEA Inferred from Electronic Annotation more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
located_in ribbon synapse	IEA Inferred from Electronic Annotation more info
located_in spindle pole	IEA Inferred from Electronic Annotation more info
located_in stereocilia tip-link density	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: protein diaphanous homolog 3

Names: diaphanous homolog 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_032693.2 RefSeqGene

Range

5058..503403

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001042517.2 → NP_001035982.1 protein diaphanous homolog 3 isoform a

See identical proteins and their annotated locations for NP_001035982.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).

Source sequence(s)

AK298509, AL356502, AL359266, AL390878, AY750055, CA310418

Consensus CDS

CCDS41898.1

UniProtKB/Swiss-Prot

A2A3B8, A2A3B9, A2A3C0, Q18P99, Q18PA0, Q18PA1, Q2KPB6, Q3ZK23, Q5JTP8, Q5T2S7, Q5XKF6, Q6MZF0, Q6NUP0, Q86VS4, Q8NAV4, Q9NSV4

UniProtKB/TrEMBL

B4DPV3, B7ZB09

Related

ENSP00000383178.3, ENST00000400324.9

Conserved Domains (3) summary

pfam02181
Location:636 → 1008

FH2; Formin Homology 2 Domain

pfam06367
Location:305 → 488

Drf_FH3; Diaphanous FH3 Domain

pfam06371
Location:115 → 297

Drf_GBD; Diaphanous GTPase-binding Domain
NM_001258366.2 → NP_001245295.1 protein diaphanous homolog 3 isoform c

See identical proteins and their annotated locations for NP_001245295.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting protein (isoform c) is shorter compared to isoform a.

Source sequence(s)

AB244756, AL356502, AL359266, CA310418

Consensus CDS

CCDS58296.1

UniProtKB/TrEMBL

B4DPV3, B7ZB09

Related

ENSP00000367141.2, ENST00000377908.6

Conserved Domains (3) summary

pfam02181
Location:625 → 997

FH2; Formin Homology 2 Domain

pfam06367
Location:294 → 477

Drf_FH3; Diaphanous FH3 Domain

pfam06371
Location:104 → 286

Drf_GBD; Diaphanous GTPase-binding Domain
NM_001258367.2 → NP_001245296.1 protein diaphanous homolog 3 isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks two alternate in-frame exons compared to variant 1. The resulting protein (isoform d) is shorter compared to isoform a.

Source sequence(s)

AB244757, AL356502, AL359266, AL390878, CA310418

Consensus CDS

CCDS58295.1

UniProtKB/TrEMBL

B4DPV3, B7ZB09

Related

ENSP00000383174.1, ENST00000400320.5

Conserved Domains (3) summary

pfam02181
Location:590 → 962

FH2; Formin Homology 2 Domain

pfam06367
Location:259 → 442

Drf_FH3; Diaphanous FH3 Domain

pfam06371
Location:104 → 251

Drf_GBD; Diaphanous GTPase-binding Domain
NM_001258368.2 → NP_001245297.1 protein diaphanous homolog 3 isoform e

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks two alternate in-frame exons compared to variant 1. The resulting protein (isoform e) is shorter compared to isoform a.

Source sequence(s)

AB244758, AL356502, AL359266, CA310418

Consensus CDS

CCDS58294.1

UniProtKB/TrEMBL

B4DPV3, B7ZB09

Related

ENSP00000383173.1, ENST00000400319.5

Conserved Domains (3) summary

pfam02181
Location:566 → 938

FH2; Formin Homology 2 Domain

pfam06367
Location:235 → 418

Drf_FH3; Diaphanous FH3 Domain

pfam06371
Location:61 → 227

Drf_GBD; Diaphanous GTPase-binding Domain
NM_001258369.2 → NP_001245298.1 protein diaphanous homolog 3 isoform f

See identical proteins and their annotated locations for NP_001245298.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in the 3' coding region and UTR compared to variant 1. The resulting protein (isoform f) has a shorter C-terminus compared to isoform a.

Source sequence(s)

AL354829, AL356502, AY818645

Consensus CDS

CCDS58297.1

UniProtKB/TrEMBL

B4DPV3, B7ZB09

Related

ENSP00000267215.4, ENST00000267215.8

Conserved Domains (3) summary

pfam02181
Location:636 → 1008

FH2; Formin Homology 2 Domain

pfam06367
Location:305 → 488

Drf_FH3; Diaphanous FH3 Domain

pfam06371
Location:115 → 297

Drf_GBD; Diaphanous GTPase-binding Domain
NM_001258370.2 → NP_001245299.1 protein diaphanous homolog 3 isoform g

See identical proteins and their annotated locations for NP_001245299.1

Status: REVIEWED

Description

Transcript Variant: This variant (7) differs in the 5' and 3' UTR, lacks a portion of the 5' and 3' coding regions, and initiates translation at an alternate start codon compared to variant 1. The resulting protein (isoform g) has shorter N- and C- termini compared to isoform a.

Source sequence(s)

AL137718, AL390878

Consensus CDS

CCDS73579.1

UniProtKB/Swiss-Prot

Q9NSV4

Related

ENSP00000479091.1, ENST00000498416.2

Conserved Domains (3) summary

pfam02181
Location:373 → 649

FH2; Formin Homology 2 Domain

pfam06367
Location:42 → 225

Drf_FH3; Diaphanous FH3 Domain

pfam06371
Location:1 → 34

Drf_GBD; Diaphanous GTPase-binding Domain
NM_030932.4 → NP_112194.2 protein diaphanous homolog 3 isoform b

See identical proteins and their annotated locations for NP_112194.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' and 3' UTR, lacks a portion of the 5' and 3' coding regions, and initiates translation at an alternate start codon compared to variant 1. The resulting protein (isoform b) has shorter N- and C- termini compared to isoform a.

Source sequence(s)

BC034952, BC068504

Consensus CDS

CCDS73580.1

UniProtKB/Swiss-Prot

Q9NSV4

Related

ENSP00000478137.1, ENST00000465066.5

Conserved Domains (3) summary

pfam02181
Location:373 → 745

FH2; Formin Homology 2 Domain

pfam06367
Location:42 → 225

Drf_FH3; Diaphanous FH3 Domain

pfam06371
Location:1 → 34

Drf_GBD; Diaphanous GTPase-binding Domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000013.11 Reference GRCh38.p14 Primary Assembly

Range

59665583..60163928 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006719876.1 → XP_006719939.1 protein diaphanous homolog 3 isoform X3

See identical proteins and their annotated locations for XP_006719939.1

Conserved Domains (3) summary

pfam02181
Location:373 → 745

FH2; Formin Homology 2 Domain

pfam06367
Location:42 → 225

Drf_FH3; Diaphanous FH3 Domain

pfam06371
Location:1 → 34

Drf_GBD; Diaphanous GTPase-binding Domain
XM_011535258.3 → XP_011533560.1 protein diaphanous homolog 3 isoform X2

UniProtKB/TrEMBL

B4DPV3, B7ZB09

Conserved Domains (3) summary

pfam02181
Location:636 → 1008

FH2; Formin Homology 2 Domain

pfam06367
Location:305 → 488

Drf_FH3; Diaphanous FH3 Domain

pfam06371
Location:115 → 297

Drf_GBD; Diaphanous GTPase-binding Domain
XM_024449422.1 → XP_024305190.1 protein diaphanous homolog 3 isoform X1

UniProtKB/TrEMBL

B4DPV3, B7ZB09

Conserved Domains (4) summary

pfam02181
Location:636 → 1008

FH2; Formin Homology 2 Domain

pfam06345
Location:1060 → 1074

Drf_DAD; DRF Autoregulatory Domain

pfam06367
Location:305 → 488

Drf_FH3; Diaphanous FH3 Domain

pfam06371
Location:115 → 297

Drf_GBD; Diaphanous GTPase-binding Domain
XM_017020789.1 → XP_016876278.1 protein diaphanous homolog 3 isoform X7
XM_047430701.1 → XP_047286657.1 protein diaphanous homolog 3 isoform X5
XM_011535263.3 → XP_011533565.1 protein diaphanous homolog 3 isoform X4

Conserved Domains (4) summary

pfam03938
Location:499 → 551

OmpH; Outer membrane protein (OmpH-like)

pfam06367
Location:305 → 488

Drf_FH3; Diaphanous FH3 Domain

pfam06371
Location:115 → 297

Drf_GBD; Diaphanous GTPase-binding Domain

cl19758
Location:636 → 691

FH2; Formin Homology 2 Domain
XM_011535265.3 → XP_011533567.1 protein diaphanous homolog 3 isoform X6

Conserved Domains (4) summary

pfam03938
Location:499 → 551

OmpH; Outer membrane protein (OmpH-like)

pfam06367
Location:305 → 488

Drf_FH3; Diaphanous FH3 Domain

pfam06371
Location:115 → 297

Drf_GBD; Diaphanous GTPase-binding Domain

cl19758
Location:636 → 691

FH2; Formin Homology 2 Domain