 |
FGF4 |
Gene Facts External Data Attribution
- HGNC Symbol
- FGF4 (HGNC:3682) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- fibroblast growth factor 4
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- HSTF1
- Alias symbols
- K-FGF, HBGF-4, HST, HST-1, KFGF
- %HI
- 2.59(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.4(Read more about gnomAD LOEUF score)
- Cytoband
- 11q13.3
- Genomic Coordinates
-
GRCh37/hg19: chr11:69585790-69590109 NCBI Ensembl UCSC GRCh38/hg38: chr11:69771022-69775341 NCBI Ensembl UCSC - MANE Select Transcript
- NM_002007.4 ENST00000168712.3 (Read more about MANE Select)
- Function
- Plays an important role in the regulation of embryonic development, cell proliferation, and cell differentiation. Required for normal limb and cardiac valve development during embryogenesis. May play a role in embryonic molar tooth bud development via inducing the expression of MSX1, MSX2 and MSX1-mediated expression of SDC1 in dental mesenchyme cells (By similarity). {ECO:0000250|UniProtKB:P11403, ECO:0000269|PubMed:8663044}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-29504
Curation Status:
Under Primary Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Under Primary Review
Triplosensitivity:
Under Primary Review
Last Evaluated:
Under Primary Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000011.9)
(NC_000011.10)
