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    FMNL2 formin like 2 [ Homo sapiens (human) ]

    Gene ID: 114793, updated on 22-Apr-2017
    Official Symbol
    FMNL2provided by HGNC
    Official Full Name
    formin like 2provided by HGNC
    Primary source
    HGNC:HGNC:18267
    See related
    Ensembl:ENSG00000157827 MIM:616285; Vega:OTTHUMG00000154035
    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
    FHOD2
    Summary
    This gene encodes a formin-related protein. Formin-related proteins have been implicated in morphogenesis, cytokinesis, and cell polarity. Alternatively spliced transcript variants encoding different isoforms have been described but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    2q23.3
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 2 NC_000002.12 (152335170..152649834)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (153191684..153506348)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373689 Neighboring gene uncharacterized LOC105373688 Neighboring gene ribosomal protein L30 pseudogene 2 Neighboring gene signal transducing adaptor molecule 2 Neighboring gene nuclear distribution C pseudogene 1 Neighboring gene uncharacterized LOC105373690 Neighboring gene pre-mRNA processing factor 40 homolog A Neighboring gene ADP ribosylation factor like GTPase 6 interacting protein 6 Neighboring gene ubiquilin 4 pseudogene 2

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    NHGRI GWA Catalog
    • RHO GTPase Effectors, organism-specific biosystem (from REACTOME)
      RHO GTPase Effectors, organism-specific biosystemRHO GTPases regulate cell behaviour by activating a number of downstream effectors that regulate cytoskeletal organization, intracellular trafficking and transcription (reviewed by Sahai and Marshall...
    • RHO GTPases Activate Formins, organism-specific biosystem (from REACTOME)
      RHO GTPases Activate Formins, organism-specific biosystemFormins are a family of proteins with 15 members in mammals, organized into 8 subfamilies. Formins are involved in the regulation of actin cytoskeleton. Many but not all formin family members are act...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
      Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ37546

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    Rho GTPase binding IEA
    Inferred from Electronic Annotation
    more info
     
    actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    cadherin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    cortical actin cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of cell morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    formin-like protein 2
    Names
    formin homology 2 domain containing 2
    formin homology 2 domain-containing protein 2

    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_052905.3NP_443137.2  formin-like protein 2

      See identical proteins and their annotated locations for NP_443137.2

      Status: REVIEWED

      Source sequence(s)
      AB067489, AC012066, AC012443, AC093794
      Consensus CDS
      CCDS46429.1
      UniProtKB/Swiss-Prot
      Q96PY5
      Related
      ENSP00000288670.9, OTTHUMP00000204908, ENST00000288670.13, OTTHUMT00000333582
      Conserved Domains (3) summary
      pfam02181
      Location:616967
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:278475
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:23275
      Drf_GBD; Diaphanous GTPase-binding Domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

      Range
      152335170..152649834
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011510531.1XP_011508833.1  formin-like protein 2 isoform X2

      Conserved Domains (3) summary
      pfam02181
      Location:623974
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:278475
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:23275
      Drf_GBD; Diaphanous GTPase-binding Domain
    2. XM_011510530.1XP_011508832.1  formin-like protein 2 isoform X1

      Conserved Domains (3) summary
      pfam02181
      Location:623974
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:278475
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:23275
      Drf_GBD; Diaphanous GTPase-binding Domain
    3. XM_011510534.1XP_011508836.1  formin-like protein 2 isoform X7

      Conserved Domains (3) summary
      pfam02181
      Location:623951
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:278475
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:23275
      Drf_GBD; Diaphanous GTPase-binding Domain
    4. XM_005246263.2XP_005246320.1  formin-like protein 2 isoform X5

      See identical proteins and their annotated locations for XP_005246320.1

      Conserved Domains (3) summary
      pfam02181
      Location:616967
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:278475
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:23275
      Drf_GBD; Diaphanous GTPase-binding Domain
    5. XM_011510535.2XP_011508837.1  formin-like protein 2 isoform X8

      Conserved Domains (3) summary
      pfam02181
      Location:572923
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:227424
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:23224
      Drf_GBD; Diaphanous GTPase-binding Domain
    6. XM_011510532.2XP_011508834.1  formin-like protein 2 isoform X3

      Conserved Domains (3) summary
      pfam02181
      Location:623974
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:278475
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:23275
      Drf_GBD; Diaphanous GTPase-binding Domain
    7. XM_011510533.2XP_011508835.1  formin-like protein 2 isoform X4

      Conserved Domains (3) summary
      pfam02181
      Location:623974
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:278475
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:23275
      Drf_GBD; Diaphanous GTPase-binding Domain
    8. XM_005246265.3XP_005246322.1  formin-like protein 2 isoform X6

      See identical proteins and their annotated locations for XP_005246322.1

      Conserved Domains (3) summary
      pfam02181
      Location:616967
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:278475
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:23275
      Drf_GBD; Diaphanous GTPase-binding Domain
    9. XM_011510536.2XP_011508838.1  formin-like protein 2 isoform X9

      Conserved Domains (3) summary
      pfam02181
      Location:384735
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:39236
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:236
      Drf_GBD; Diaphanous GTPase-binding Domain

    RNA

    1. XR_241279.3 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      153197750..153512372
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001004417.1: Suppressed sequence

      Description
      NM_001004417.1: This RefSeq was temporarily suppressed because currently there is insufficient data to support this transcript.
    2. NM_001004421.1: Suppressed sequence

      Description
      NM_001004421.1: This RefSeq was temporarily suppressed because currently there is insufficient data to support this transcript.
    3. NM_001004422.1: Suppressed sequence

      Description
      NM_001004422.1: This RefSeq was temporarily suppressed because currently there is insufficient data to support this transcript.
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