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FOXP2 forkhead box P2 [ Homo sapiens (human) ]

Gene ID: 93986, updated on 10-Jun-2018
Official Symbol
FOXP2provided by HGNC
Official Full Name
forkhead box P2provided by HGNC
Primary source
HGNC:HGNC:13875
See related
Ensembl:ENSG00000128573 MIM:605317; Vega:OTTHUMG00000023131
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
SPCH1; CAGH44; TNRC10
Summary
This gene encodes a member of the forkhead/winged-helix (FOX) family of transcription factors. It is expressed in fetal and adult brain as well as in several other organs such as the lung and gut. The protein product contains a FOX DNA-binding domain and a large polyglutamine tract and is an evolutionarily conserved transcription factor, which may bind directly to approximately 300 to 400 gene promoters in the human genome to regulate the expression of a variety of genes. This gene is required for proper development of speech and language regions of the brain during embryogenesis, and may be involved in a variety of biological pathways and cascades that may ultimately influence language development. Mutations in this gene cause speech-language disorder 1 (SPCH1), also known as autosomal dominant speech and language disorder with orofacial dyspraxia. Multiple alternative transcripts encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]
Expression
Ubiquitous expression in ovary (RPKM 3.6), endometrium (RPKM 3.4) and 22 other tissues See more
Orthologs
See FOXP2 in Genome Data Viewer
Location:
7q31.1
Exon count:
24
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (114086310..114693772)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (113726365..114333827)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986837 Neighboring gene small integral membrane protein 30 Neighboring gene protein phosphatase 1 regulatory subunit 3A Neighboring gene VISTA enhancer hs720 Neighboring gene ribosomal protein L36 pseudogene 13 Neighboring gene VISTA enhancer hs218 Neighboring gene VISTA enhancer hs999 Neighboring gene VISTA enhancer hs1080 Neighboring gene VISTA enhancer hs222 Neighboring gene VISTA enhancer hs956 Neighboring gene VISTA enhancer hs966 Neighboring gene RNA, 5S ribosomal pseudogene 238 Neighboring gene microRNA 3666 Neighboring gene VISTA enhancer hs1192 Neighboring gene MyoD family inhibitor domain containing

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Speech-language disorder 1 Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-09-19)

ClinGen Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated (2012-09-19)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300.
NHGRI GWA Catalog
Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.
NHGRI GWA Catalog
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat specifically associates with FOXP2 promoter to upregulate FOXP2 expression in T cells PubMed

Go to the HIV-1, Human Interaction Database

  • Pathways Affected in Adenoid Cystic Carcinoma, organism-specific biosystem (from WikiPathways)
    Pathways Affected in Adenoid Cystic Carcinoma, organism-specific biosystemProtein pathways altered by mutations in adenoid cystic carcinoma. Pathways include epigentic modification, DNA damage checkpoint signals, MYB/MYC signalling pathway, FGF/IGF/PI3K signalling, and not...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • DKFZp686H1726

Gene Ontology Provided by GOA

Process Evidence Code Pubs
camera-type eye development IEA
Inferred from Electronic Annotation
more info
 
caudate nucleus development IMP
Inferred from Mutant Phenotype
more info
PubMed 
cerebellum development IEA
Inferred from Electronic Annotation
more info
 
cerebral cortex development IEP
Inferred from Expression Pattern
more info
PubMed 
innate vocalization behavior IEA
Inferred from Electronic Annotation
more info
 
lung alveolus development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of epithelial cell proliferation involved in lung morphogenesis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of mesenchymal cell proliferation IEA
Inferred from Electronic Annotation
more info
 
post-embryonic development IEA
Inferred from Electronic Annotation
more info
 
putamen development IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to testosterone IEA
Inferred from Electronic Annotation
more info
 
righting reflex IEA
Inferred from Electronic Annotation
more info
 
skeletal muscle tissue development IEA
Inferred from Electronic Annotation
more info
 
smooth muscle tissue development IEA
Inferred from Electronic Annotation
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
vocal learning IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
forkhead box protein P2
Names
CAG repeat protein 44
forkhead/winged-helix transcription factor
trinucleotide repeat containing 10
trinucleotide repeat-containing gene 10 protein

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_007491.2 RefSeqGene

    Range
    333688..612463
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001172766.2NP_001166237.1  forkhead box protein P2 isoform V

    See identical proteins and their annotated locations for NP_001166237.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an in-frame exon and uses an alternate in-frame splice site in the coding region, compared to variant 2. The resulting isoform (V) is shorter than isoform II.
    Source sequence(s)
    AC020606, AF337817, AI369947, BC018016, BC143867
    UniProtKB/Swiss-Prot
    O15409
    UniProtKB/TrEMBL
    B7ZLK5
    Related
    ENSP00000377135.2, OTTHUMP00000067771, ENST00000393498.6, OTTHUMT00000139941
    Conserved Domains (2) summary
    cd00059
    Location:503575
    FH; Forkhead (FH), also known as a "winged helix". FH is named for the Drosophila fork head protein, a transcription factor which promotes terminal rather than segmental development. This family of transcription factor domains, which bind to B-DNA as ...
    pfam16159
    Location:341408
    FOXP-CC; FOXP coiled-coil domain
  2. NM_001172767.2NP_001166238.1  forkhead box protein P2 isoform VI

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR, the 3' coding region and the 3' UTR, compared to variant 2. The resulting isoform (VI) has a distinct C-terminus and is shorter than isoform II.
    Source sequence(s)
    AF337817, AF467254, AF467259
    UniProtKB/Swiss-Prot
    O15409
    UniProtKB/TrEMBL
    Q8N6B5
    Related
    ENSP00000375084.3, OTTHUMP00000196934, ENST00000390668.3, OTTHUMT00000317368
    Conserved Domains (1) summary
    pfam16159
    Location:367434
    FOXP-CC; FOXP coiled-coil domain
  3. NM_014491.3NP_055306.1  forkhead box protein P2 isoform I

    See identical proteins and their annotated locations for NP_055306.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) lacks an in-frame exon in the 5' coding region, as compared to variant 2. The resulting isoform (I) is shorter than isoform II.
    Source sequence(s)
    AC020606, AF337817, AI369947, BC018016
    Consensus CDS
    CCDS5760.1
    UniProtKB/Swiss-Prot
    O15409
    Related
    ENSP00000265436.7, OTTHUMP00000024749, ENST00000350908.8, OTTHUMT00000059452
    Conserved Domains (2) summary
    cd00059
    Location:504576
    FH; Forkhead (FH), also known as a "winged helix". FH is named for the Drosophila fork head protein, a transcription factor which promotes terminal rather than segmental development. This family of transcription factor domains, which bind to B-DNA as ...
    pfam16159
    Location:342409
    FOXP-CC; FOXP coiled-coil domain
  4. NM_148898.3NP_683696.2  forkhead box protein P2 isoform II

    See identical proteins and their annotated locations for NP_683696.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) encodes the longest isoform (II).
    Source sequence(s)
    AC020606, AI369947, AY144615, BC018016
    Consensus CDS
    CCDS43635.1
    UniProtKB/Swiss-Prot
    O15409
    UniProtKB/TrEMBL
    X5D2H2
    Related
    ENSP00000386200.3, OTTHUMP00000067772, ENST00000408937.7, OTTHUMT00000137483
    Conserved Domains (2) summary
    cd00059
    Location:529601
    FH; Forkhead (FH), also known as a "winged helix". FH is named for the Drosophila fork head protein, a transcription factor which promotes terminal rather than segmental development. This family of transcription factor domains, which bind to B-DNA as ...
    pfam16159
    Location:367434
    FOXP-CC; FOXP coiled-coil domain
  5. NM_148899.3NP_683697.2  forkhead box protein P2 isoform III

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks an in-frame exon in the 5' coding region, and differs in the 3' coding region and 3' UTR, compared to variant 2. The resulting isoform (III) has a distinct C-terminus and is shorter than isoform II.
    Source sequence(s)
    AF467253, AF467254, AF467258
    Consensus CDS
    CCDS5761.2
    UniProtKB/Swiss-Prot
    O15409
    UniProtKB/TrEMBL
    Q8N6B6
    Related
    ENSP00000353367.4, OTTHUMP00000196935, ENST00000360232.8, OTTHUMT00000317369
    Conserved Domains (1) summary
    pfam16159
    Location:342409
    FOXP-CC; FOXP coiled-coil domain
  6. NM_148900.3NP_683698.2  forkhead box protein P2 isoform IV

    See identical proteins and their annotated locations for NP_683698.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an in-frame exon and has an additional in-frame exon in the coding region, compared to variant 2. The resulting isoform (IV) is shorter than isoform II.
    Source sequence(s)
    AC020606, AI369947, AK296957, BC018016
    Consensus CDS
    CCDS55154.1
    UniProtKB/Swiss-Prot
    O15409
    Related
    ENSP00000385069.4, ENST00000403559.8
    Conserved Domains (2) summary
    cd00059
    Location:521593
    FH; Forkhead (FH), also known as a "winged helix". FH is named for the Drosophila fork head protein, a transcription factor which promotes terminal rather than segmental development. This family of transcription factor domains, which bind to B-DNA as ...
    pfam16159
    Location:359426
    FOXP-CC; FOXP coiled-coil domain

RNA

  1. NR_033766.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) has multiple differences compared to variant 2. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC020606, AI369947, AK131266, DA400243
  2. NR_033767.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) has multiple differences compared to variant 2. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC020606, AI369947, BC018016, BC143866
    Related
    ENST00000393491.7

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_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    114086310..114693772
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017012801.2XP_016868290.1  forkhead box protein P2 isoform X1

    UniProtKB/Swiss-Prot
    O15409
    UniProtKB/TrEMBL
    X5D2H2
    Related
    ENSP00000489073.1, OTTHUMP00000281529, ENST00000635638.1
    Conserved Domains (2) summary
    cd00059
    Location:529601
    FH; Forkhead (FH), also known as a "winged helix". FH is named for the Drosophila fork head protein, a transcription factor which promotes terminal rather than segmental development. This family of transcription factor domains, which bind to B-DNA as ...
    pfam16159
    Location:367434
    FOXP-CC; FOXP coiled-coil domain
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