• 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
DLX5 (HGNC:2918) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
distal-less homeobox 5
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
No aliases found
%HI
0.99(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.22(Read more about gnomAD pLI score)
LOEUF
0.68(Read more about gnomAD LOEUF score)
Cytoband
7q21.3
Genomic Coordinates
GRCh37/hg19: chr7:96649708-96654143 NCBI Ensembl UCSC
GRCh38/hg38: chr7:97020396-97024831 NCBI Ensembl UCSC
MANE Select Transcript
NM_005221.6 ENST00000648378.1 (Read more about MANE Select)
Function
Transcriptional factor involved in bone development. Acts as an immediate early BMP-responsive transcriptional activator essential for osteoblast differentiation. Stimulates ALPL promoter activity in a RUNX2-independent manner during osteoblast differentiation. Stimulates SP7 promoter activity during osteoblast differentiation. Promotes cell proliferation by up-regulating MYC promoter activity. Involved as a positive regulator of both chondrogenesis and chondrocyte hypertrophy in the endochondra... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-30228
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
05/14/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
  • split hand-foot malformation 1 with sensorineural hearing loss Monarch
HI Evidence Comments:
Non-focal heterozygous deletions and chromosomal rearrangements involving 7q21 have been reported in patients with Split-hand/foot malformation 1 (SHFM1). As all reported deletions involving DLX5 include additional genes, the potential haploinsufficiency for DLX5 alone is not known. The minimal deleted region in SHFM1 includes the closely linked gene, DLX 6, as well as the gene SHFM1 (formerly DSS1). Concomitant haploinsufficiency for DLX5 and DLX6 is currently favored as the pathogenic mechanism for SHFM1 [See PMIDs 22342398 and 19401716 and OMIM for reviews of the literature]. Supportive evidence includes a correlative spatiotemporal gene expression pattern of DLX5 and DLX6 and similar malformation phenotypes in a mouse DLX5/DLX6 double KO model. A 2012 study reported the first intragenic DLX5 mutation in a consanguineous family with an unusual SHFM1 phenotype, however this mutation was homozygous and its functional consequence has not yet been tested [PMID 22121204].

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000007.13) (NC_000007.14)