FMN2 formin 2 [Homo sapiens] - Gene

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Summary

Official Symbol: FMN2provided by HGNC
Official Full Name: formin 2provided by HGNC
Primary source: HGNC:14074
Locus tag: RP11-90L13.1
See related: Ensembl:ENSG00000155816; HPRD:10449; MIM:606373; Vega:OTTHUMG00000039883
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
Summary: Formin homology (FH) domain proteins (see FMN1; MIM 136535) play a role in cytoskeletal organization and/or establishment of cell polarity.[supplied by OMIM, Apr 2010]

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Genomic context

Location :: 1q43

Sequence :: Chromosome: 1; NC_000001.10 (240255185..240638489)

See FMN2 in Epigenomics, MapViewer

Chromosome 1 - NC_000001.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

analysis of the molecular basis of the Spir1/formin-2 interaction
Title: Molecular basis of actin nucleation factor cooperativity: crystal structure of the Spir-1 kinase non-catalytic C-lobe domain (KIND)•formin-2 formin SPIR interaction motif (FSI) complex.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
both mammalian Spir proteins, Spir-1 and Spir-2, interact with mammalian Fmn subgroup proteins formin-1 and formin-2
Title: Identification of a short Spir interaction sequence at the C-terminal end of formin subgroup proteins.
Observational study of gene-disease association. (HuGE Navigator)
Title: A large-scale candidate gene association study of age at menarche and age at natural menopause.
FMN2 was characterized at human chromosome 1q43.
Title: Characterization of FMN2 gene at human chromosome 1q43.
It is likely that FMN2 has the same function as Fmn2 in the mouse, i.e., maintenance of the meiotic spindle. Identification of patients with meiosis I arrest is necessary to determine whether FMN2 mutations are a cause of unexplained infertility.
Title: Characterization and mutation analysis of the human formin-2 (FMN2) gene in women with unexplained infertility.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.

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Function	Evidence Code	Pubs
actin binding	IEA Inferred from Electronic Annotation more info
molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
actin cytoskeleton organization	IEA Inferred from Electronic Annotation more info
cellular component organization	IEA Inferred from Electronic Annotation more info
establishment of meiotic spindle localization	ISS Inferred from Sequence or Structural Similarity more info
intracellular signal transduction	IEA Inferred from Electronic Annotation more info
meiotic chromosome movement towards spindle pole	ISS Inferred from Sequence or Structural Similarity more info
meiotic metaphase I	ISS Inferred from Sequence or Structural Similarity more info
multicellular organismal development	IEA Inferred from Electronic Annotation more info
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

Component	Evidence Code	Pubs
cellular_component	ND No biological Data available more info

General protein information

Preferred Names: formin-2

Names: formin-2

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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.

mRNA and Protein(s)

NM_020066.4 → NP_064450.3 formin-2

Status: VALIDATED

Source sequence(s)

AF218941, AF218942, AF225426, AL359918, DB476003, DN990332

Consensus CDS

CCDS31069.2

UniProtKB/TrEMBL

Q9HBL1

UniProtKB/Swiss-Prot

Q9NZ56

Related

ENSP00000318884, OTTHUMP00000037814, ENST00000319653, OTTHUMT00000096217

Conserved Domains (2) summary

smart00498
Location:1284 – 1711
Blast Score: 666

FH2; Formin Homology 2 Domain

pfam02181
Location:1283 – 1673
Blast Score: 892

FH2; Formin Homology 2 Domain

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000001.10 Reference GRCh37.p5 Primary Assembly

Range

240255185..240638489

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000133.1 Alternate HuRef

Range

210713436..211096763

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL359918.43	CAQ10135.1
		CAQ10136.1
genomic	AL513342.7	CAQ10525.1
		CAQ10526.1
genomic	AL513342.7	CAQ10525.1
		CAQ10526.1
genomic	AL590490.11	CAQ10976.1
genomic	AL646016.8	CAQ08405.1
genomic	CH471098.1	EAW70082.1
mRNA	AB209153.1	BAD92390.1
mRNA	AF218941.1	AAF72884.1
mRNA	AF218942.1	AAF72885.1
mRNA	AF225426.1	AAG09728.1
mRNA	AK297716.1	BAG60071.1
mRNA	AK297755.1	BAH12659.1
mRNA	AK298141.1	BAG60417.1
mRNA	BC014364.2	AAH14364.2
mRNA	BC112335.1	AAI12336.1
mRNA	BC112361.1	AAI12362.1
mRNA	DB476003.1	None
mRNA	DN990332.1	None

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
Q2M1H5	GenPept	UniProtKB/TrEMBL:Q2M1H5
Q96L17	GenPept	UniProtKB/TrEMBL:Q96L17
Q9HBL1	GenPept	UniProtKB/TrEMBL:Q9HBL1
Q9NZ56.4	GenPept	UniProtKB/Swiss-Prot:Q9NZ56