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FOXA2 |
Gene Facts External Data Attribution
- HGNC Symbol
- FOXA2 (HGNC:5022) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- forkhead box A2
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- HNF3B
- Alias symbols
- No aliases found
- %HI
- 45.26(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.97(Read more about gnomAD pLI score)
- LOEUF
- 0.52(Read more about gnomAD LOEUF score)
- Cytoband
- 20p11.21
- Genomic Coordinates
-
GRCh37/hg19: chr20:22561636-22566128 NCBI Ensembl UCSC GRCh38/hg38: chr20:22580998-22585490 NCBI Ensembl UCSC - MANE Select Transcript
- NM_021784.5 ENST00000419308.7 (Read more about MANE Select)
- Function
- Transcription factor that is involved in embryonic development, establishment of tissue-specific gene expression and regulation of gene expression in differentiated tissues. Is thought to act as a 'pioneer' factor opening the compacted chromatin for other proteins through interactions with nucleosomal core histones and thereby replacing linker histones at target enhancer and/or promoter sites. Binds DNA with the consensus sequence 5'- [AC]A[AT]T[AG]TT[GT][AG][CT]T[CT]-3' (By similarity). In embr... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-14606
Curation Status:
Reopened
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Reopened
Triplosensitivity:
Reopened
Last Evaluated:
Reopened
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000020.10)
(NC_000020.11)
