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    FMN2 formin 2 [ Homo sapiens (human) ]

    Gene ID: 56776, updated on 9-Dec-2024

    Summary

    Official Symbol
    FMN2provided by HGNC
    Official Full Name
    formin 2provided by HGNC
    Primary source
    HGNC:HGNC:14074
    See related
    Ensembl:ENSG00000155816 MIM:606373; AllianceGenome:HGNC:14074
    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
    NEW
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    Genomic context

    See FMN2 in Genome Data Viewer
    Location:
    1q43
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (240091883..240475187)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (239505207..239886446)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (240255183..240638487)

    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 ADH5 pseudogene 3 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:240421073-240422272 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:240656515-240656686 Neighboring gene MPRA-validated peak794 silencer Neighboring gene gremlin 2, DAN family BMP antagonist Neighboring gene uncharacterized LOC124904600 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:240770159-240770658 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

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

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

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

    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_042054.1 RefSeqGene

      Range
      4999..388303
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001305424.2NP_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_001348094.2NP_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
      B0QZA7, B4DP05, Q59GF6, Q5VU37, Q9NZ55, Q9NZ56
      Related
      ENSP00000318884.9, ENST00000319653.14
      Conserved Domains (2) summary
      PHA00666
      Location:302416
      PHA00666; putative protease
      pfam02181
      Location:12831673
      FH2; Formin Homology 2 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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      240091883..240475187
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

    2. XM_011544237.4XP_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_047425620.1XP_047281576.1  formin-2 isoform X4

    4. XM_017001838.2XP_016857327.1  formin-2 isoform X2

    5. XM_017001841.3XP_016857330.1  formin-2 isoform X5

    6. XM_017001840.3XP_016857329.1  formin-2 isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      239505207..239886446
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)