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)