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

    Gene ID: 81624, updated on 4-Jan-2025

    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
    NEW
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    Genomic context

    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

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • FLJ34705, DKFZp434C0931, DKFZp686A13178

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding  
    enables cadherin binding PubMed 
    enables microtubule binding  
    enables protein homodimerization activity  
    enables small GTPase binding  
    Process Evidence Code Pubs
    involved_in actin crosslink formation  
    involved_in actin cytoskeleton organization  
    involved_in actin filament bundle assembly  
    involved_in actin filament polymerization  
    involved_in actin filament polymerization  
    involved_in actin nucleation  
    involved_in autophagosome-lysosome fusion  
    involved_in cell projection organization  
    involved_in chromosome segregation  
    involved_in cytoskeleton organization  
    involved_in endosomal transport  
    involved_in erythrocyte enucleation  
    involved_in establishment of cell polarity  
    involved_in gene expression  
    involved_in head development  
    involved_in in utero embryonic development  
    involved_in inner ear receptor cell differentiation  
    involved_in integrin-mediated signaling pathway  
    involved_in macrophage differentiation  
    involved_in microtubule polymerization  
    involved_in negative regulation of microtubule depolymerization  
    involved_in podosome assembly  
    involved_in protein-containing complex remodeling  
    involved_in sensory perception of sound  
    Component Evidence Code Pubs
    part_of ESCRT I complex  
    is_active_in actin filament  
    located_in actin filament bundle  
    located_in cleavage furrow  
    located_in cytoplasm  
    located_in cytosol  
    part_of filamentous actin  
    located_in microtubule organizing center  
    located_in nucleus  
    located_in ribbon synapse  
    located_in spindle pole  
    located_in stereocilia tip-link density  

    General protein information

    Preferred Names
    protein diaphanous homolog 3
    Names
    diaphanous homolog 3

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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

      UniProtKB/TrEMBL
      B4DPV3, B7ZB09
    3. XM_054375062.1 → XP_054231037.1  protein diaphanous homolog 3 isoform X1

      UniProtKB/TrEMBL
      B4DPV3, B7ZB09
    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

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