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

    Gene ID: 81624, updated on 28-Oct-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
    mouse all
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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 (93) 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

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