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    FMNL2 formin like 2 [ Homo sapiens (human) ]

    Gene ID: 114793, updated on 5-May-2024

    Summary

    Official Symbol
    FMNL2provided by HGNC
    Official Full Name
    formin like 2provided by HGNC
    Primary source
    HGNC:HGNC:18267
    See related
    Ensembl:ENSG00000157827 MIM:616285; AllianceGenome:HGNC:18267
    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]
    Expression
    Broad expression in brain (RPKM 47.7), placenta (RPKM 25.7) and 20 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See FMNL2 in Genome Data Viewer
    Location:
    2q23.3
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (152335174..152649826)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (152787273..153102389)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (153191688..153506340)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16645 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16646 Neighboring gene uncharacterized LOC105373689 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:153032215-153032738 Neighboring gene uncharacterized LOC105373688 Neighboring gene ribosomal protein L30 pseudogene 2 Neighboring gene signal transducing adaptor molecule 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:153183153-153183652 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12011 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12012 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:153258063-153258564 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:153258565-153259064 Neighboring gene Sharpr-MPRA regulatory region 2662 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:153280187-153280913 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:153280914-153281639 Neighboring gene Sharpr-MPRA regulatory region 469 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:153309665-153310256 Neighboring gene nuclear distribution C pseudogene 1 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:153310257-153310847 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:153312623-153313213 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:153357706-153358281 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16648 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16649 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:153474731-153475930 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:153502126-153503325 Neighboring gene NANOG hESC enhancer GRCh37_chr2:153508427-153509132 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:153519134-153520333 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16650 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:153557503-153558702 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:153558975-153559476 Neighboring gene pre-mRNA processing factor 40 homolog A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16651 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12013 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:153574523-153575228 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16655 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16656 Neighboring gene ADP ribosylation factor like GTPase 6 interacting protein 6 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:153661367-153661578 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:153702825-153704024 Neighboring gene ubiquilin 4 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

    EBI GWAS Catalog

    Description
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ37546

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables cadherin binding HDA PubMed 
    enables small GTPase binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cortical actin cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cortical actin cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of cell morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of cell shape IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    formin-like protein 2
    Names
    formin homology 2 domain containing 2
    formin homology 2 domain-containing protein 2

    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_052905.4NP_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
      B2RZH5, Q14CC9, Q4ZG52, Q8N3E0, Q96PY5
      Related
      ENSP00000288670.9, ENST00000288670.14
      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: 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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      152335174..152649826
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      UniProtKB/TrEMBL
      C9IZY8
      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_011510533.4XP_011508835.1  formin-like protein 2 isoform X3

      UniProtKB/TrEMBL
      C9IZY8
      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_011510530.2XP_011508832.1  formin-like protein 2 isoform X1

      UniProtKB/TrEMBL
      C9IZY8
      Related
      ENSP00000418959.3, ENST00000475377.3
      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
    4. XM_011510534.2XP_011508836.1  formin-like protein 2 isoform X6

      UniProtKB/TrEMBL
      C9IZY8
      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
    5. XM_005246263.3XP_005246320.1  formin-like protein 2 isoform X4

      See identical proteins and their annotated locations for XP_005246320.1

      UniProtKB/Swiss-Prot
      B2RZH5, Q14CC9, Q4ZG52, Q8N3E0, Q96PY5
      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
    6. XM_005246265.4XP_005246322.1  formin-like protein 2 isoform X5

      See identical proteins and their annotated locations for XP_005246322.1

      UniProtKB/Swiss-Prot
      B2RZH5, Q14CC9, Q4ZG52, Q8N3E0, Q96PY5
      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
    7. XM_047443111.1XP_047299067.1  formin-like protein 2 isoform X7

    8. XM_047443112.1XP_047299068.1  formin-like protein 2 isoform X8

    9. XM_011510535.3XP_011508837.1  formin-like protein 2 isoform X9

      UniProtKB/TrEMBL
      C9IZY8
      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
    10. XM_047443113.1XP_047299069.1  formin-like protein 2 isoform X10

    11. XM_047443114.1XP_047299070.1  formin-like protein 2 isoform X11

    12. XM_011510536.4XP_011508838.1  formin-like protein 2 isoform X12

      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_241279.5 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      152787273..153102389
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054340341.1XP_054196316.1  formin-like protein 2 isoform X2

    2. XM_054340342.1XP_054196317.1  formin-like protein 2 isoform X3

    3. XM_054340340.1XP_054196315.1  formin-like protein 2 isoform X1

    4. XM_054340345.1XP_054196320.1  formin-like protein 2 isoform X6

    5. XM_054340343.1XP_054196318.1  formin-like protein 2 isoform X4

    6. XM_054340344.1XP_054196319.1  formin-like protein 2 isoform X5

    7. XM_054340346.1XP_054196321.1  formin-like protein 2 isoform X7

    8. XM_054340347.1XP_054196322.1  formin-like protein 2 isoform X8

    9. XM_054340348.1XP_054196323.1  formin-like protein 2 isoform X9

    10. XM_054340349.1XP_054196324.1  formin-like protein 2 isoform X10

    11. XM_054340350.1XP_054196325.1  formin-like protein 2 isoform X11

    12. XM_054340351.1XP_054196326.1  formin-like protein 2 isoform X12

    RNA

    1. XR_008486257.1 RNA Sequence

    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.