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FMN2 formin 2 [ Homo sapiens (human) ]

Gene ID: 56776, updated on 4-Nov-2018

Summary

Official Symbol
FMN2provided by HGNC
Official Full Name
formin 2provided by HGNC
Primary source
HGNC:HGNC:14074
See related
Ensembl:ENSG00000155816 MIM:606373; Vega:OTTHUMG00000039883
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
Summary
This gene is a member of the formin homology protein family. The encoded protein is thought to have essential roles in organization of the actin cytoskeleton and in cell polarity. This protein mediates the formation of an actin mesh that positions the spindle during oogenesis and also regulates the formation of actin filaments in the nucleus. This protein also forms a perinuclear actin/focal-adhesion system that regulates the shape and position of the nucleus during cell migration. Mutations in this gene have been associated with infertility and also with an autosomal recessive form of intellectual disability (MRT47). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jul 2017]
Expression
Biased expression in brain (RPKM 8.0), adrenal (RPKM 0.9) and 3 other tissues See more
Orthologs

Genomic context

See FMN2 in Genome Data Viewer
Location:
1q43
Exon count:
23
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (240091885..240475189)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (240255185..240638491)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble) pseudogene Neighboring gene ribosomal protein S7 pseudogene 5 Neighboring gene proteasome 26S subunit, non-ATPase, 2 pseudogene 1 Neighboring gene alcohol dehydrogenase 5 (class III), chi polypeptide, pseudogene 3 Neighboring gene gremlin 2, DAN family BMP antagonist Neighboring gene uncharacterized LOC107985369 Neighboring gene ribosomal protein S11 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Mental retardation, autosomal recessive 47
MedGen: C4015444 OMIM: 616193 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genetic determinants of trabecular and cortical volumetric bone mineral densities and bone microstructure.
NHGRI GWA Catalog
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
NHGRI GWA Catalog
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
NHGRI GWA Catalog
Genome-wide association study of proneness to anger.
NHGRI GWA Catalog
Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin binding IDA
Inferred from Direct Assay
more info
PubMed 
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
cellular response to DNA damage stimulus IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to DNA damage stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to hypoxia IMP
Inferred from Mutant Phenotype
more info
PubMed 
establishment of meiotic spindle localization ISS
Inferred from Sequence or Structural Similarity
more info
 
formin-nucleated actin cable assembly IDA
Inferred from Direct Assay
more info
PubMed 
formin-nucleated actin cable assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
homologous chromosome movement towards spindle pole involved in homologous chromosome segregation ISS
Inferred from Sequence or Structural Similarity
more info
 
intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
 
intracellular transport ISS
Inferred from Sequence or Structural Similarity
more info
 
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
oogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
polar body extrusion after meiotic divisions ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of double-strand break repair IDA
Inferred from Direct Assay
more info
PubMed 
protein transport IEA
Inferred from Electronic Annotation
more info
 
vesicle-mediated transport ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
colocalizes_with actin cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
cell cortex ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasmic vesicle membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
microvillus IEA
Inferred from Electronic Annotation
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
spindle IEA
Inferred from Electronic Annotation
more info
 

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_042054.1 RefSeqGene

    Range
    5001..388305
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001305424.1NP_001292353.1  formin-2 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AB209153, AF225426, AL359918, AL513342, DB476003
    UniProtKB/Swiss-Prot
    Q9NZ56
    UniProtKB/TrEMBL
    Q9HBL1
    Conserved Domains (3) summary
    PHA00666
    Location:302416
    PHA00666; putative protease
    pfam02181
    Location:12871677
    FH2; Formin Homology 2 Domain
    cl21478
    Location:633700
    ATP-synt_B; ATP synthase B/B' CF(0)
  2. NM_001348094.1NP_001335023.1  formin-2 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks three alternate in-frame exons compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AL359918, AL513342, AL590490, AL646016
    Conserved Domains (2) summary
    pfam02181
    Location:635949
    FH2; Formin Homology 2 Domain
    cl28033
    Location:230500
    Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region
  3. NM_020066.4NP_064450.3  formin-2 isoform 2

    See identical proteins and their annotated locations for NP_064450.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. It encodes isoform 2 which is shorter compared to isoform 1.
    Source sequence(s)
    AF218941, AF218942, AF225426, AL359918, DB476003, DN990332
    Consensus CDS
    CCDS31069.2
    UniProtKB/Swiss-Prot
    Q9NZ56
    UniProtKB/TrEMBL
    Q9HBL1
    Related
    ENSP00000318884.9, OTTHUMP00000037814, ENST00000319653.13, OTTHUMT00000096217
    Conserved Domains (2) summary
    PHA00666
    Location:302416
    PHA00666; putative protease
    pfam02181
    Location:12831673
    FH2; Formin Homology 2 Domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    240091885..240475189
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001837.1XP_016857326.1  formin-2 isoform X1

  2. XM_011544237.3XP_011542539.1  formin-2 isoform X3

    Conserved Domains (2) summary
    cl19758
    Location:12871359
    FH2; Formin Homology 2 Domain
    cl21478
    Location:633700
    ATP-synt_B; ATP synthase B/B' CF(0)
  3. XM_017001838.1XP_016857327.1  formin-2 isoform X2

  4. XM_017001841.2XP_016857330.1  formin-2 isoform X4

  5. XM_017001840.2XP_016857329.1  formin-2 isoform X4

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