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FOXL2 forkhead box L2 [ Homo sapiens (human) ]

Gene ID: 668, updated on 28-Jun-2021

Summary

Official Symbol
FOXL2provided by HGNC
Official Full Name
forkhead box L2provided by HGNC
Primary source
HGNC:HGNC:1092
See related
Ensembl:ENSG00000183770 MIM:605597
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
BPES; PFRK; POF3; BPES1; PINTO
Summary
This gene encodes a forkhead transcription factor. The protein contains a fork-head DNA-binding domain and may play a role in ovarian development and function. Expansion of a polyalanine repeat region and other mutations in this gene are a cause of blepharophimosis syndrome and premature ovarian failure 3. [provided by RefSeq, Jul 2016]
Orthologs
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Genomic context

See FOXL2 in Genome Data Viewer
Location:
3q22.3
Exon count:
1
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (138944224..138947137, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (138663066..138665979, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATP synthase membrane subunit c locus 1 pseudogene 3 Neighboring gene Sharpr-MPRA regulatory region 3980 Neighboring gene long intergenic non-protein coding RNA 1391 Neighboring gene FOXL2 neighbor Neighboring gene proline rich 23A

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study identifies four susceptibility loci for keloid in the Japanese population.
GeneReviews: Not available
Blepharophimosis, ptosis, and epicanthus inversus Compare labs
Premature ovarian failure 3
MedGen: C1837008 OMIM: 608996 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2021-02-09)

ClinGen Genome Curation PagePubMed
Triplosensitivity

No evidence available (Last evaluated 2021-02-09)

ClinGen Genome Curation Page

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120 upregulates the expression of forkhead box L2 (FOXL2) in human B cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in Flemming body IDA
Inferred from Direct Assay
more info
 
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
forkhead box protein L2
Names
forkhead transcription factor FOXL2

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.

Genomic

  1. NG_012454.1 RefSeqGene

    Range
    5004..7917
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1295

mRNA and Protein(s)

  1. NM_023067.4NP_075555.1  forkhead box protein L2

    See identical proteins and their annotated locations for NP_075555.1

    Status: REVIEWED

    Source sequence(s)
    AC092947, BC062549, BF515406, BX095729
    Consensus CDS
    CCDS3105.1
    UniProtKB/Swiss-Prot
    P58012
    UniProtKB/TrEMBL
    Q53ZD3
    Related
    ENSP00000497217.1, ENST00000648323.1
    Conserved Domains (1) summary
    pfam00250
    Location:53139
    Forkhead; Forkhead domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    138944224..138947137 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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