DIAPH1 |
Gene Facts External Data Attribution
- HGNC Symbol
- DIAPH1 (HGNC:2876) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- diaphanous related formin 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- DFNA1
- Alias symbols
- hDIA1, LFHL1, mDia1
- %HI
- 17.63(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.92(Read more about gnomAD pLI score)
- LOEUF
- 0.32(Read more about gnomAD LOEUF score)
- Cytoband
- 5q31.3
- Genomic Coordinates
-
GRCh37/hg19: chr5:140894588-140998567 NCBI Ensembl UCSC GRCh38/hg38: chr5:141515021-141619000 NCBI Ensembl UCSC - MANE Select Transcript
- NM_005219.5 ENST00000389054.8 (Read more about MANE Select)
- Function
- Actin nucleation and elongation factor required for the assembly of F-actin structures, such as actin cables and stress fibers (By similarity). Binds to the barbed end of the actin filament and slows down actin polymerization and depolymerization (By similarity). Required for cytokinesis, and transcriptional activation of the serum response factor (By similarity). DFR proteins couple Rho and Src tyrosine kinase during signaling and the regulation of actin dynamics (By similarity). Functions as a... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-13217
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_000005.9)
(NC_000005.10)