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    FMNL2 formin like 2 [ Homo sapiens (human) ]

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

    Summary

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    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
    mouse all
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Formin-Like 2 Is a Potential Biomarker of Poor Prognosis in Nasopharyngeal Carcinoma. Lee SW, et al. Oncology, 2022. PMID 35772391
    2. Characterization of a L136P mutation in Formin-like 2 (FMNL2) from a patient with chronic inflammatory bowel disease. Trefzer R, et al. PLoS One, 2021. PMID 34043722, Free PMC Article
    3. Inhibition of formin like 2 promotes the transition of ectopic endometrial stromal cells to epithelial cells in adenomyosis through a MET-like process. Li Y, et al. Gene, 2019 Aug 20. PMID 31175924
    4. A specific FMNL2 isoform is up-regulated in invasive cells. Péladeau C, et al. BMC Cell Biol, 2016 Aug 30. PMID 27578625, Free PMC Article
    5. Down-regulation of formin-like 2 predicts poor prognosis in hepatocellular carcinoma. Liang L, et al. Hum Pathol, 2011 Nov. PMID 21496865

    See all (73) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. [Effect of miR-22 Targeting FMNL2 on Cell Migration and Apoptosis in Childhood Acute Myeloid Leukemia].
      Title: [Effect of miR-22 Targeting FMNL2 on Cell Migration and Apoptosis in Childhood Acute Myeloid Leukemia].
    2. Spatiotemporal Regulation of FMNL2 by N-Terminal Myristoylation and C-Terminal Phosphorylation Drives Rapid Filopodia Formation.
      Title: Spatiotemporal Regulation of FMNL2 by N-Terminal Myristoylation and C-Terminal Phosphorylation Drives Rapid Filopodia Formation.
    3. LINC00839 promotes malignancy of liver cancer via binding FMNL2 under hypoxia.
      Title: LINC00839 promotes malignancy of liver cancer via binding FMNL2 under hypoxia.
    4. Formin-Like 2 Is a Potential Biomarker of Poor Prognosis in Nasopharyngeal Carcinoma.
      Title: Formin-Like 2 Is a Potential Biomarker of Poor Prognosis in Nasopharyngeal Carcinoma.
    5. FMNL2 regulates gliovascular interactions and is associated with vascular risk factors and cerebrovascular pathology in Alzheimer's disease.
      Title: FMNL2 regulates gliovascular interactions and is associated with vascular risk factors and cerebrovascular pathology in Alzheimer's disease.
    6. Characterization of a L136P mutation in Formin-like 2 (FMNL2) from a patient with chronic inflammatory bowel disease.
      Title: Characterization of a L136P mutation in Formin-like 2 (FMNL2) from a patient with chronic inflammatory bowel disease.
    7. FMNL2 regulates dynamics of fascin in filopodia.
      Title: FMNL2 regulates dynamics of fascin in filopodia.
    8. CircHIPK3 promotes colorectal cancer cells proliferation and metastasis via modulating of miR-1207-5p/FMNL2 signal.
      Title: CircHIPK3 promotes colorectal cancer cells proliferation and metastasis via modulating of miR-1207-5p/FMNL2 signal.
    9. MicroRNA-22 targets FMNL2 to inhibit melanoma progression via the regulation of the Wnt/beta-catenin signaling pathway and epithelial-mesenchymal transition.
      Title: MicroRNA-22 targets FMNL2 to inhibit melanoma progression via the regulation of the Wnt/β-catenin signaling pathway and epithelial-mesenchymal transition.
    10. Results demonstrated that N-myristoylation-dependent phosphorylation in FMNL2 occurs at a single Ser residue at position 171, which is a Ser residue conserved between FMNL2 and FMNL3, corresponding to Ser-174 in FMNL3
      Title: A strategy to identify protein-N-myristoylation-dependent phosphorylation reactions of cellular proteins by using Phos-tag SDS-PAGE.
    Submit: New GeneRIF Correction See all GeneRIFs (32)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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

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

    NCBI Reference Sequences (RefSeq)

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    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_052905.4 → NP_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:616 → 967
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:278 → 475
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:23 → 275
      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_011510531.2 → XP_011508833.1  formin-like protein 2 isoform X2

      UniProtKB/TrEMBL
      C9IZY8
      Conserved Domains (3) summary
      pfam02181
      Location:623 → 974
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:278 → 475
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:23 → 275
      Drf_GBD; Diaphanous GTPase-binding Domain

    2. XM_011510533.4 → XP_011508835.1  formin-like protein 2 isoform X3

      UniProtKB/TrEMBL
      C9IZY8
      Conserved Domains (3) summary
      pfam02181
      Location:623 → 974
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:278 → 475
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:23 → 275
      Drf_GBD; Diaphanous GTPase-binding Domain

    3. XM_011510530.2 → XP_011508832.1  formin-like protein 2 isoform X1

      UniProtKB/TrEMBL
      C9IZY8
      Related
      ENSP00000418959.3, ENST00000475377.3
      Conserved Domains (3) summary
      pfam02181
      Location:623 → 974
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:278 → 475
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:23 → 275
      Drf_GBD; Diaphanous GTPase-binding Domain

    4. XM_011510534.2 → XP_011508836.1  formin-like protein 2 isoform X6

      UniProtKB/TrEMBL
      C9IZY8
      Conserved Domains (3) summary
      pfam02181
      Location:623 → 951
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:278 → 475
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:23 → 275
      Drf_GBD; Diaphanous GTPase-binding Domain

    5. XM_005246263.3 → XP_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:616 → 967
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:278 → 475
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:23 → 275
      Drf_GBD; Diaphanous GTPase-binding Domain

    6. XM_005246265.4 → XP_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:616 → 967
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:278 → 475
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:23 → 275
      Drf_GBD; Diaphanous GTPase-binding Domain

    7. XM_047443111.1 → XP_047299067.1  formin-like protein 2 isoform X7

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

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

      UniProtKB/TrEMBL
      C9IZY8
      Conserved Domains (3) summary
      pfam02181
      Location:572 → 923
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:227 → 424
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:23 → 224
      Drf_GBD; Diaphanous GTPase-binding Domain

    10. XM_047443113.1 → XP_047299069.1  formin-like protein 2 isoform X10

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

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

      Conserved Domains (3) summary
      pfam02181
      Location:384 → 735
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:39 → 236
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:2 → 36
      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_054340341.1 → XP_054196316.1  formin-like protein 2 isoform X2

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

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

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

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

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

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

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

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

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

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

    12. XM_054340351.1 → XP_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.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96PY5.3 GenPept UniProtKB/Swiss-Prot:Q96PY5

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