DLX2 |
- 0
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- DLX2 (HGNC:2915) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- distal-less homeobox 2
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- TES-1
- %HI
- 19.55(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.98(Read more about gnomAD pLI score)
- LOEUF
- 0.25(Read more about gnomAD LOEUF score)
- Cytoband
- 2q31.1
- Genomic Coordinates
-
GRCh37/hg19: chr2:172964166-172967628 NCBI Ensembl UCSC GRCh38/hg38: chr2:172099438-172102900 NCBI Ensembl UCSC - MANE Select Transcript
- NM_004405.4 ENST00000234198.9 (Read more about MANE Select)
- Function
- Acts as a transcriptional activator (By similarity). Activates transcription of CGA/alpha-GSU, via binding to the downstream activin regulatory element (DARE) in the gene promoter (By similarity). Plays a role in terminal differentiation of interneurons, such as amacrine and bipolar cells in the developing retina. Likely to play a regulatory role in the development of the ventral forebrain (By similarity). May play a role in craniofacial patterning and morphogenesis (By similarity). {ECO:0000250... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-2346
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency
(0)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
01/19/2012
Haploinsufficiency (HI) Score Details
HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency
(Disclaimer)
HI Evidence Comments:
There is one association study linking 2 SNPs in or near the DLX2 gene to autism. One of the SNPs was replicated in 3 independent samples within this study. However, this SNP is 807 bp downstream of the gene. The other SNP is in the 5'UTR [Liu et al (2009) PMID: 18728693]. Thiesen et al. evaluated 14 individuals with deletions of the 2q31.1 region in an attempt to define the genes associated with split hand and foot malformation. They concluded that the absence of hand/foot anomalies in 5 individuals with deletions of DLX1/DLX2 but not the HOXD cluster supports the hypothesis that haploinsufficiency of the HOXD cluster, rather than DLX1/DLX2, accounts for the skeletal abnormalities in subjects with 2q31.1 microdeletions (PMID: 22140379).
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000002.11)
(NC_000002.12)