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FMNL3 formin like 3 [ Homo sapiens (human) ]

Gene ID: 91010, updated on 10-Oct-2024

Summary

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
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Genomic context

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

Expression

  • Project title: HPA RNA-seq normal tissues 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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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

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_001367835.1NP_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_175736.5NP_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:561926
    FH2; Formin Homology 2 Domain
    pfam06367
    Location:281478
    Drf_FH3; Diaphanous FH3 Domain
    pfam06371
    Location:27278
    Drf_GBD; Diaphanous GTPase-binding Domain
  3. NM_198900.3NP_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:510875
    FH2; Formin Homology 2 Domain
    pfam06367
    Location:230427
    Drf_FH3; Diaphanous FH3 Domain
    pfam06371
    Location:27227
    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_047429864.1XP_047285820.1  formin-like protein 3 isoform X10

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

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

    Related
    ENSP00000447479.1, ENST00000550488.5
  4. XM_011538971.3XP_011537273.1  formin-like protein 3 isoform X5

    UniProtKB/TrEMBL
    F8W1F5
    Conserved Domains (3) summary
    pfam02181
    Location:533898
    FH2; Formin Homology 2 Domain
    pfam06367
    Location:253450
    Drf_FH3; Diaphanous FH3 Domain
    pfam06371
    Location:11250
    Drf_GBD; Diaphanous GTPase-binding Domain
  5. XM_047429860.1XP_047285816.1  formin-like protein 3 isoform X7

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

    UniProtKB/TrEMBL
    F8W1F5
    Conserved Domains (3) summary
    pfam02181
    Location:529894
    FH2; Formin Homology 2 Domain
    pfam06367
    Location:249446
    Drf_FH3; Diaphanous FH3 Domain
    pfam06371
    Location:64246
    Drf_GBD; Diaphanous GTPase-binding Domain
  7. XM_011538970.3XP_011537272.1  formin-like protein 3 isoform X2

    UniProtKB/TrEMBL
    F8W1F5
    Conserved Domains (3) summary
    pfam02181
    Location:579944
    FH2; Formin Homology 2 Domain
    pfam06367
    Location:300496
    Drf_FH3; Diaphanous FH3 Domain
    pfam06371
    Location:64297
    Drf_GBD; Diaphanous GTPase-binding Domain
  8. XM_011538968.3XP_011537270.1  formin-like protein 3 isoform X1

    UniProtKB/TrEMBL
    F8W1F5
    Conserved Domains (3) summary
    pfam02181
    Location:580945
    FH2; Formin Homology 2 Domain
    pfam06367
    Location:300497
    Drf_FH3; Diaphanous FH3 Domain
    pfam06371
    Location:64297
    Drf_GBD; Diaphanous GTPase-binding Domain
  9. XM_047429861.1XP_047285817.1  formin-like protein 3 isoform X8

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

    UniProtKB/TrEMBL
    F8W1F5
    Conserved Domains (3) summary
    pfam02181
    Location:536901
    FH2; Formin Homology 2 Domain
    pfam06367
    Location:256453
    Drf_FH3; Diaphanous FH3 Domain
    pfam06371
    Location:20253
    Drf_GBD; Diaphanous GTPase-binding Domain
  11. XM_047429862.1XP_047285818.1  formin-like protein 3 isoform X8

  12. XM_011538973.3XP_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_054373795.1XP_054229770.1  formin-like protein 3 isoform X10

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

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

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

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

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

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

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

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

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

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

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