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    FMN2 formin 2 [ Homo sapiens (human) ]

    Gene ID: 56776, updated on 7-Dec-2018

    Summary

    Official Symbol
    FMN2provided by HGNC
    Official Full Name
    formin 2provided by HGNC
    Primary source
    HGNC:HGNC:14074
    See related
    Ensembl:ENSG00000155816 MIM:606373
    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
    Summary
    This gene is a member of the formin homology protein family. The encoded protein is thought to have essential roles in organization of the actin cytoskeleton and in cell polarity. This protein mediates the formation of an actin mesh that positions the spindle during oogenesis and also regulates the formation of actin filaments in the nucleus. This protein also forms a perinuclear actin/focal-adhesion system that regulates the shape and position of the nucleus during cell migration. Mutations in this gene have been associated with infertility and also with an autosomal recessive form of intellectual disability (MRT47). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jul 2017]
    Expression
    Biased expression in brain (RPKM 8.0), adrenal (RPKM 0.9) and 3 other tissues See more
    Orthologs

    Genomic context

    See FMN2 in Genome Data Viewer
    Location:
    1q43
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (240091885..240475189)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (240255185..240638491)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble) pseudogene Neighboring gene ribosomal protein S7 pseudogene 5 Neighboring gene proteasome 26S subunit, non-ATPase, 2 pseudogene 1 Neighboring gene alcohol dehydrogenase 5 (class III), chi polypeptide, pseudogene 3 Neighboring gene gremlin 2, DAN family BMP antagonist Neighboring gene uncharacterized LOC107985369 Neighboring gene ribosomal protein S11 pseudogene 2

    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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Mental retardation, autosomal recessive 47
    MedGen: C4015444 OMIM: 616193 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genetic determinants of trabecular and cortical volumetric bone mineral densities and bone microstructure.
    NHGRI GWA Catalog
    Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
    NHGRI GWA Catalog
    Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
    NHGRI GWA Catalog
    Genome-wide association study of proneness to anger.
    NHGRI GWA Catalog
    Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
    NHGRI GWA Catalog

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    actin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    molecular_function ND
    No biological Data available
    more info
     
    Process Evidence Code Pubs
    cellular response to DNA damage stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to DNA damage stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to hypoxia IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    establishment of meiotic spindle localization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    formin-nucleated actin cable assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    formin-nucleated actin cable assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    homologous chromosome movement towards spindle pole involved in homologous chromosome segregation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    oogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    polar body extrusion after meiotic divisions ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of double-strand break repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    vesicle-mediated transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    colocalizes_with actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell cortex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytoplasmic vesicle membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    microvillus IEA
    Inferred from Electronic Annotation
    more info
     
    nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    spindle IEA
    Inferred from Electronic Annotation
    more info
     

    NCBI Reference Sequences (RefSeq)

    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_042054.1 RefSeqGene

      Range
      5001..388305
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001305424.1NP_001292353.1  formin-2 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AB209153, AF225426, AL359918, AL513342, DB476003
      UniProtKB/Swiss-Prot
      Q9NZ56
      UniProtKB/TrEMBL
      Q9HBL1
      Conserved Domains (3) summary
      PHA00666
      Location:302416
      PHA00666; putative protease
      pfam02181
      Location:12871677
      FH2; Formin Homology 2 Domain
      cl21478
      Location:633700
      ATP-synt_B; ATP synthase B/B' CF(0)
    2. NM_001348094.1NP_001335023.1  formin-2 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks three alternate in-frame exons compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AL359918, AL513342, AL590490, AL646016
      Conserved Domains (2) summary
      pfam02181
      Location:635949
      FH2; Formin Homology 2 Domain
      cl28033
      Location:230500
      Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region
    3. NM_020066.5NP_064450.3  formin-2 isoform 2

      See identical proteins and their annotated locations for NP_064450.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. It encodes isoform 2 which is shorter compared to isoform 1.
      Source sequence(s)
      AF218941, AF218942, AF225426, AL359918, DB476003, DN990332
      Consensus CDS
      CCDS31069.2
      UniProtKB/Swiss-Prot
      Q9NZ56
      UniProtKB/TrEMBL
      Q9HBL1
      Related
      ENSP00000318884.9, ENST00000319653.13
      Conserved Domains (2) summary
      PHA00666
      Location:302416
      PHA00666; putative protease
      pfam02181
      Location:12831673
      FH2; Formin Homology 2 Domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

      Range
      240091885..240475189
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017001837.1XP_016857326.1  formin-2 isoform X1

    2. XM_011544237.3XP_011542539.1  formin-2 isoform X3

      Conserved Domains (2) summary
      cl19758
      Location:12871359
      FH2; Formin Homology 2 Domain
      cl21478
      Location:633700
      ATP-synt_B; ATP synthase B/B' CF(0)
    3. XM_017001838.1XP_016857327.1  formin-2 isoform X2

    4. XM_017001841.2XP_016857330.1  formin-2 isoform X4

    5. XM_017001840.2XP_016857329.1  formin-2 isoform X4

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