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    FMNL3 formin like 3 [ Homo sapiens (human) ]

    Gene ID: 91010, updated on 27-Nov-2024

    Summary

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    Official Symbol
    FMNL3provided by HGNC
    Official Full Name
    formin like 3provided by HGNC
    Primary source
    HGNC:HGNC:23698
    See related
    Ensembl:ENSG00000161791 MIM:616288; AllianceGenome:HGNC:23698
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FRL2; WBP3; FHOD3; WBP-3
    Summary
    The protein encoded by this gene contains a formin homology 2 domain and has high sequence identity to the mouse Wbp3 protein. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in lymph node (RPKM 8.1), testis (RPKM 7.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FMNL3 in Genome Data Viewer
    Location:
    12q13.12
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (49636499..49707405, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (49599508..49670420, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (50030282..50101188, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 186 member B Neighboring gene PARK7 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4440 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6320 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4441 Neighboring gene HIG1 hypoxia inducible domain family member 1A pseudogene 9 Neighboring gene pre-mRNA processing factor 40 homolog B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:50041399-50042391 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:50052522-50052699 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:50056671-50057609 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:50067301-50067999 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6322 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6323 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:50090751-50091252 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6324 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6325 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6326 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6327 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6328 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4442 Neighboring gene uncharacterized LOC124902929 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6329 Neighboring gene cytochrome c oxidase subunit 5B pseudogene 5 Neighboring gene MPRA-validated peak1727 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:50134965-50135656 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6332 Neighboring gene transmembrane BAX inhibitor motif containing 6

    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. Assembly of filopodia by the formin FRL2 (FMNL3). Harris ES, et al. Cytoskeleton (Hoboken), 2010 Dec. PMID 20862687, Free PMC Article
    2. Formin-like 3 regulates RhoC/FAK pathway and actin assembly to promote cell invasion in colorectal carcinoma. Zeng YF, et al. World J Gastroenterol, 2018 Sep 14. PMID 30228782, Free PMC Article
    3. Increased expression of formin-like 3 contributes to metastasis and poor prognosis in colorectal carcinoma. Zeng YF, et al. Exp Mol Pathol, 2015 Apr. PMID 25758200
    4. Roles for Ena/VASP proteins in FMNL3-mediated filopodial assembly. Young LE, et al. J Cell Sci, 2018 Oct 29. PMID 30373894, Free PMC Article
    5. High expression of FMNL3 associates with cancer cell migration, invasion, and unfavorable prognosis in tongue squamous cell carcinoma. Liu J, et al. J Oral Pathol Med, 2019 Jul. PMID 30955218

    See all (40) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Hsa_circ_0081534 facilitates malignant phenotypes by sequestering miR-874-3p and upregulating FMNL3 in nasopharyngeal carcinoma.
      Title: Hsa_circ_0081534 facilitates malignant phenotypes by sequestering miR-874-3p and upregulating FMNL3 in nasopharyngeal carcinoma.
    2. Bioinformatic Prediction of Novel Signaling Pathways of Apoptosis-inducing Factor, Mitochondrion-associated 3 (AIFM3) and Their Roles in Metastasis of Cholangiocarcinoma Cells.
      Title: Bioinformatic Prediction of Novel Signaling Pathways of Apoptosis-inducing Factor, Mitochondrion-associated 3 (AIFM3) and Their Roles in Metastasis of Cholangiocarcinoma Cells.
    3. Results demonstrated that N-myristoylation-dependent phosphorylation in FMNL3 occurs at a single Ser residue at position 174, which is a Ser residue conserved between FMNL2 and FMNL3, corresponding to Ser-171 in FMNL2.
      Title: A strategy to identify protein-N-myristoylation-dependent phosphorylation reactions of cellular proteins by using Phos-tag SDS-PAGE.
    4. FMNL3 suppression reduces filopodial assembly by 90%, and FMNL3 is enriched at >95% of filopodial tips.
      Title: Roles for Ena/VASP proteins in FMNL3-mediated filopodial assembly.
    5. FMNL3 overexpression is related to the metastasis of tongue squamous cell carcinoma and poor prognosis.
      Title: High expression of FMNL3 associates with cancer cell migration, invasion, and unfavorable prognosis in tongue squamous cell carcinoma.
    6. Study revealed an essential role for FMNL3 in regulating the RhoC/FAK pathway and actin assembly dynamics, and the subsequent promotion of colorectal carcinoma invasion.
      Title: Formin-like 3 regulates RhoC/FAK pathway and actin assembly to promote cell invasion in colorectal carcinoma.
    7. FMNL3, the target gene of miR-127, is upregulated and acting as an oncogene in ESCC
      Title: MicroRNA-127 is a tumor suppressor in human esophageal squamous cell carcinoma through the regulation of oncogene FMNL3.
    8. we use a simple cellular system to examine fundamental features of formin-mediated filopodial assembly, using constitutively active constructs of the formins mDia2 and FMNL3
      Title: Cell type-dependent mechanisms for formin-mediated assembly of filopodia.
    9. FMNL3 interacts with Cdc42 and RhoJ, two Rho family GTPases known to be required for lumen formation. FMNL3 and RhoJ are concentrated at the early apical surface, or AMIS, and regulate the formation of radiating actin cables from this site.
      Title: The Formin FMNL3 Controls Early Apical Specification in Endothelial Cells by Regulating the Polarized Trafficking of Podocalyxin.
    10. FMNL3 functions in assembly of actin-based protrusions that are specialized for cell-cell adhesion.
      Title: The formin FMNL3 assembles plasma membrane protrusions that participate in cell-cell adhesion.
    Submit: New GeneRIF Correction See all GeneRIFs (15)

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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

    • FLJ45265, MGC45819, DKFZp762B245

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activating protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables small GTPase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in angiogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cortical actin cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in filopodium assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of cell shape IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of cell shape IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    formin-like protein 3
    Names
    WW domain binding protein 3
    formin homology 2 domain-containing protein 3

    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_001367835.1 → NP_001354764.1  formin-like protein 3 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) encodes the longest isoform (3).
      Source sequence(s)
      AC020612
      UniProtKB/Swiss-Prot
      B0JZA7, Q6ZRJ1, Q8IVF7
      UniProtKB/TrEMBL
      F8W1F5

    2. NM_175736.5 → NP_783863.4  formin-like protein 3 isoform 1

      See identical proteins and their annotated locations for NP_783863.4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) lacks an alternate exon in the 3' coding region, compared to variant 3. The encoded isoform (1), is shorter than isoform 3.
      Source sequence(s)
      AB095934, AC020612, BC090955
      Consensus CDS
      CCDS44874.1
      UniProtKB/TrEMBL
      F8W1F5
      Related
      ENSP00000335655.5, ENST00000335154.10
      Conserved Domains (3) summary
      pfam02181
      Location:561 → 926
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:281 → 478
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:27 → 278
      Drf_GBD; Diaphanous GTPase-binding Domain

    3. NM_198900.3 → NP_944489.2  formin-like protein 3 isoform 2

      See identical proteins and their annotated locations for NP_944489.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 3. The encoded isoform (2) is shorter than isoform 3.
      Source sequence(s)
      AB095934, AC020612, AK128195
      Consensus CDS
      CCDS41780.1
      UniProtKB/TrEMBL
      F8W1F5
      Related
      ENSP00000344311.5, ENST00000352151.9
      Conserved Domains (3) summary
      pfam02181
      Location:510 → 875
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:230 → 427
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:27 → 227
      Drf_GBD; Diaphanous GTPase-binding 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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      49636499..49707405 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047429864.1 → XP_047285820.1  formin-like protein 3 isoform X10

    2. XM_047429863.1 → XP_047285819.1  formin-like protein 3 isoform X9

    3. XM_047429859.1 → XP_047285815.1  formin-like protein 3 isoform X3

      Related
      ENSP00000447479.1, ENST00000550488.5

    4. XM_011538971.3 → XP_011537273.1  formin-like protein 3 isoform X5

      UniProtKB/TrEMBL
      F8W1F5
      Conserved Domains (3) summary
      pfam02181
      Location:533 → 898
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:253 → 450
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:11 → 250
      Drf_GBD; Diaphanous GTPase-binding Domain

    5. XM_047429860.1 → XP_047285816.1  formin-like protein 3 isoform X7

    6. XM_011538972.3 → XP_011537274.1  formin-like protein 3 isoform X6

      UniProtKB/TrEMBL
      F8W1F5
      Conserved Domains (3) summary
      pfam02181
      Location:529 → 894
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:249 → 446
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:64 → 246
      Drf_GBD; Diaphanous GTPase-binding Domain

    7. XM_011538970.3 → XP_011537272.1  formin-like protein 3 isoform X2

      UniProtKB/TrEMBL
      F8W1F5
      Conserved Domains (3) summary
      pfam02181
      Location:579 → 944
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:300 → 496
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:64 → 297
      Drf_GBD; Diaphanous GTPase-binding Domain

    8. XM_011538968.3 → XP_011537270.1  formin-like protein 3 isoform X1

      UniProtKB/TrEMBL
      F8W1F5
      Conserved Domains (3) summary
      pfam02181
      Location:580 → 945
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:300 → 497
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:64 → 297
      Drf_GBD; Diaphanous GTPase-binding Domain

    9. XM_047429861.1 → XP_047285817.1  formin-like protein 3 isoform X8

    10. XM_011538974.3 → XP_011537276.1  formin-like protein 3 isoform X4

      UniProtKB/TrEMBL
      F8W1F5
      Conserved Domains (3) summary
      pfam02181
      Location:536 → 901
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:256 → 453
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:20 → 253
      Drf_GBD; Diaphanous GTPase-binding Domain

    11. XM_047429862.1 → XP_047285818.1  formin-like protein 3 isoform X8

    12. XM_011538973.3 → XP_011537275.2  formin-like protein 3 isoform X11

      UniProtKB/TrEMBL
      F8W1F5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      49599508..49670420 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373795.1 → XP_054229770.1  formin-like protein 3 isoform X10

    2. XM_054373794.1 → XP_054229769.1  formin-like protein 3 isoform X9

    3. XM_054373788.1 → XP_054229763.1  formin-like protein 3 isoform X3

    4. XM_054373789.1 → XP_054229764.1  formin-like protein 3 isoform X5

    5. XM_054373791.1 → XP_054229766.1  formin-like protein 3 isoform X7

    6. XM_054373787.1 → XP_054229762.1  formin-like protein 3 isoform X2

    7. XM_054373790.1 → XP_054229765.1  formin-like protein 3 isoform X6

    8. XM_054373786.1 → XP_054229761.1  formin-like protein 3 isoform X1

    9. XM_054373792.1 → XP_054229767.1  formin-like protein 3 isoform X8

    10. XM_054373797.1 → XP_054229772.1  formin-like protein 3 isoform X4

    11. XM_054373793.1 → XP_054229768.1  formin-like protein 3 isoform X8

    12. XM_054373796.1 → XP_054229771.1  formin-like protein 3 isoform X11

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IVF7.3 GenPept UniProtKB/Swiss-Prot:Q8IVF7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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