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

Gene ID: 81624, updated on 3-Nov-2024

Summary

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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
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Genomic context

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See DIAPH3 in Genome Data Viewer
Location:
13q21.2
Exon count:
38
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (59665583..60163928, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (58885077..59383567, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (60239717..60738062, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984625 Neighboring gene RNA, U7 small nuclear 88 pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr13:60247454-60247955 Neighboring gene Sharpr-MPRA regulatory region 8361 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:60367030-60367895 Neighboring gene DIAPH3 antisense RNA 1 Neighboring gene RNA, 7SL, cytoplasmic 375, pseudogene Neighboring gene DIAPH3 antisense RNA 2 Neighboring gene uncharacterized LOC105370227 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7799 Neighboring gene Sharpr-MPRA regulatory region 11905 Neighboring gene RNY4 pseudogene 28

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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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Related articles in PubMed

  1. An interpretation of human diaphorase isozymes in terms of three gene loci DIA1, DIA2 and DIA3. Fisher RA, et al. Ann Hum Genet, 1977 Oct. PMID 563699
  2. Novel stromal biomarker screening in pancreatic cancer patients using the in vitro cancer-stromal interaction model. Nishida Y, et al. BMC Gastroenterol, 2020 Dec 9. PMID 33297976, Free PMC Article
  3. DIAPH3 promotes the tumorigenesis of lung adenocarcinoma. Xiang G, et al. Exp Cell Res, 2019 Dec 1. PMID 31586548
  4. DIAPH3 promoted the growth, migration and metastasis of hepatocellular carcinoma cells by activating beta-catenin/TCF signaling. Dong L, et al. Mol Cell Biochem, 2018 Jan. PMID 28795316
  5. Autosomal dominant auditory neuropathy and variant DIAPH3 (c.-173C>T). Sánchez-Martínez A, et al. Acta Otorrinolaringol Esp (Engl Ed), 2017 May-Jun. PMID 27658576

See all (94) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CircDiaph3 aggravates H/R-induced cardiomyocyte apoptosis and inflammation through miR-338-3p/SRSF1 axis.
    Title: CircDiaph3 aggravates H/R-induced cardiomyocyte apoptosis and inflammation through miR-338-3p/SRSF1 axis.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. The oncogenic roles of DIAPH3 in the tumorigenesis of lung cance.
    Title: DIAPH3 promotes the tumorigenesis of lung adenocarcinoma.
Submit: New GeneRIF Correction See all GeneRIFs (31)

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)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ34705, DKFZp434C0931, DKFZp686A13178

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin binding IEA
Inferred from Electronic Annotation
more info
  
enables cadherin binding HDA 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

  1. NG_032693.2 RefSeqGene

    Range
    5058..503403
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    59665583..60163928 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

  3. 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

  4. XM_017020789.1 → XP_016876278.1  protein diaphanous homolog 3 isoform X7

  5. XM_047430701.1 → XP_047286657.1  protein diaphanous homolog 3 isoform X5

  6. 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

  7. 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

RNA

  1. XR_002957478.1 RNA Sequence

  2. XR_002957480.1 RNA Sequence

  3. XR_941672.1 RNA Sequence

  4. XR_002957477.1 RNA Sequence

  5. XR_001749694.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    58885077..59383567 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054375064.1 → XP_054231039.1  protein diaphanous homolog 3 isoform X3

  2. XM_054375063.1 → XP_054231038.1  protein diaphanous homolog 3 isoform X2

  3. XM_054375062.1 → XP_054231037.1  protein diaphanous homolog 3 isoform X1

  4. XM_054375068.1 → XP_054231043.1  protein diaphanous homolog 3 isoform X7

  5. XM_054375066.1 → XP_054231041.1  protein diaphanous homolog 3 isoform X5

  6. XM_054375065.1 → XP_054231040.1  protein diaphanous homolog 3 isoform X4

  7. XM_054375067.1 → XP_054231042.1  protein diaphanous homolog 3 isoform X6

RNA

  1. XR_008488783.1 RNA Sequence

  2. XR_008488784.1 RNA Sequence

  3. XR_008488785.1 RNA Sequence

  4. XR_008488782.1 RNA Sequence

  5. XR_008488786.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NSV4.4 GenPept UniProtKB/Swiss-Prot:Q9NSV4

Gene LinkOut

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