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    FMNL3 formin like 3 [ Homo sapiens (human) ]

    Gene ID: 91010, updated on 7-Apr-2024

    Summary

    Official Symbol
    FMNL3provided by HGNC
    Official Full Name
    formin like 3provided by HGNC
    Primary source
    HGNC:HGNC:23698
    See related
    Ensembl:ENSG00000161791 MIM:616288; AllianceGenome:HGNC:23698
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FRL2; WBP3; FHOD3; WBP-3
    Summary
    The protein encoded by this gene contains a formin homology 2 domain and has high sequence identity to the mouse Wbp3 protein. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in lymph node (RPKM 8.1), testis (RPKM 7.5) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    12q13.12
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (49636499..49707405, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (49599508..49670420, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (50030282..50101188, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 186 member B Neighboring gene PARK7 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4440 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6320 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4441 Neighboring gene HIG1 hypoxia inducible domain family member 1A pseudogene 9 Neighboring gene pre-mRNA processing factor 40 homolog B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:50041399-50042391 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:50052522-50052699 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:50056671-50057609 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:50067301-50067999 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6322 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6323 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:50090751-50091252 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6324 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6325 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6326 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6327 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6328 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4442 Neighboring gene uncharacterized LOC124902929 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6329 Neighboring gene cytochrome c oxidase subunit 5B pseudogene 5 Neighboring gene MPRA-validated peak1727 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:50134965-50135656 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6332 Neighboring gene transmembrane BAX inhibitor motif containing 6

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ45265, MGC45819, DKFZp762B245

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activating protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables small GTPase binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cortical actin cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in filopodium assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of cell shape IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of cell shape IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    formin-like protein 3
    Names
    WW domain binding protein 3
    formin homology 2 domain-containing protein 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.

    mRNA and Protein(s)

    1. NM_001367835.1NP_001354764.1  formin-like protein 3 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) encodes the longest isoform (3).
      Source sequence(s)
      AC020612
      UniProtKB/Swiss-Prot
      B0JZA7, Q6ZRJ1, Q8IVF7
      UniProtKB/TrEMBL
      F8W1F5
    2. NM_175736.5NP_783863.4  formin-like protein 3 isoform 1

      See identical proteins and their annotated locations for NP_783863.4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) lacks an alternate exon in the 3' coding region, compared to variant 3. The encoded isoform (1), is shorter than isoform 3.
      Source sequence(s)
      AB095934, AC020612, BC090955
      Consensus CDS
      CCDS44874.1
      UniProtKB/TrEMBL
      F8W1F5
      Related
      ENSP00000335655.5, ENST00000335154.10
      Conserved Domains (3) summary
      pfam02181
      Location:561926
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:281478
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:27278
      Drf_GBD; Diaphanous GTPase-binding Domain
    3. NM_198900.3NP_944489.2  formin-like protein 3 isoform 2

      See identical proteins and their annotated locations for NP_944489.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 3. The encoded isoform (2) is shorter than isoform 3.
      Source sequence(s)
      AB095934, AC020612, AK128195
      Consensus CDS
      CCDS41780.1
      UniProtKB/TrEMBL
      F8W1F5
      Related
      ENSP00000344311.5, ENST00000352151.9
      Conserved Domains (3) summary
      pfam02181
      Location:510875
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:230427
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:27227
      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

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      49636499..49707405 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047429864.1XP_047285820.1  formin-like protein 3 isoform X10

    2. XM_047429863.1XP_047285819.1  formin-like protein 3 isoform X9

    3. XM_047429859.1XP_047285815.1  formin-like protein 3 isoform X3

      Related
      ENSP00000447479.1, ENST00000550488.5
    4. XM_011538971.3XP_011537273.1  formin-like protein 3 isoform X5

      UniProtKB/TrEMBL
      F8W1F5
      Conserved Domains (3) summary
      pfam02181
      Location:533898
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:253450
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:11250
      Drf_GBD; Diaphanous GTPase-binding Domain
    5. XM_047429860.1XP_047285816.1  formin-like protein 3 isoform X7

    6. XM_011538972.3XP_011537274.1  formin-like protein 3 isoform X6

      UniProtKB/TrEMBL
      F8W1F5
      Conserved Domains (3) summary
      pfam02181
      Location:529894
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:249446
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:64246
      Drf_GBD; Diaphanous GTPase-binding Domain
    7. XM_011538970.3XP_011537272.1  formin-like protein 3 isoform X2

      UniProtKB/TrEMBL
      F8W1F5
      Conserved Domains (3) summary
      pfam02181
      Location:579944
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:300496
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:64297
      Drf_GBD; Diaphanous GTPase-binding Domain
    8. XM_011538968.3XP_011537270.1  formin-like protein 3 isoform X1

      UniProtKB/TrEMBL
      F8W1F5
      Conserved Domains (3) summary
      pfam02181
      Location:580945
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:300497
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:64297
      Drf_GBD; Diaphanous GTPase-binding Domain
    9. XM_047429861.1XP_047285817.1  formin-like protein 3 isoform X8

    10. XM_011538974.3XP_011537276.1  formin-like protein 3 isoform X4

      UniProtKB/TrEMBL
      F8W1F5
      Conserved Domains (3) summary
      pfam02181
      Location:536901
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:256453
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:20253
      Drf_GBD; Diaphanous GTPase-binding Domain
    11. XM_047429862.1XP_047285818.1  formin-like protein 3 isoform X8

    12. XM_011538973.3XP_011537275.2  formin-like protein 3 isoform X11

      UniProtKB/TrEMBL
      F8W1F5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      49599508..49670420 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373795.1XP_054229770.1  formin-like protein 3 isoform X10

    2. XM_054373794.1XP_054229769.1  formin-like protein 3 isoform X9

    3. XM_054373788.1XP_054229763.1  formin-like protein 3 isoform X3

    4. XM_054373789.1XP_054229764.1  formin-like protein 3 isoform X5

    5. XM_054373791.1XP_054229766.1  formin-like protein 3 isoform X7

    6. XM_054373787.1XP_054229762.1  formin-like protein 3 isoform X2

    7. XM_054373790.1XP_054229765.1  formin-like protein 3 isoform X6

    8. XM_054373786.1XP_054229761.1  formin-like protein 3 isoform X1

    9. XM_054373792.1XP_054229767.1  formin-like protein 3 isoform X8

    10. XM_054373797.1XP_054229772.1  formin-like protein 3 isoform X4

    11. XM_054373793.1XP_054229768.1  formin-like protein 3 isoform X8

    12. XM_054373796.1XP_054229771.1  formin-like protein 3 isoform X11