DMXL2
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
DMXL2 (HGNC:2938) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
Dmx like 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
RC3, KIAA0856, DFNA71
%HI
41.6(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.36(Read more about gnomAD LOEUF score)
Cytoband
15q21.2
Genomic Coordinates
GRCh37/hg19: chr15:51739988-51914968 NCBI Ensembl UCSC
GRCh38/hg38: chr15:51447791-51622771 NCBI Ensembl UCSC
MANE Select Transcript
NM_001378457.1 ENST00000560891.6 (Read more about MANE Select)
Function
May serve as a scaffold protein for MADD and RAB3GA on synaptic vesicles (PubMed:11809763). Plays a role in the brain as a key controller of neuronal and endocrine homeostatic processes (By similarity). {ECO:0000250|UniProtKB:Q8BPN8, ECO:0000269|PubMed:11809763}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-19496
ClinGen Curation ID:
CCID:007009
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
04/04/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
Note: There are 2 reports of chimeric transcripts between CYP19 and DMXL2 which propose a gain of function for these mutations. PMID:17584767 Demura et al. (2007) examined 3 families and 2 sporadic cases with aromatase excess syndrome. CYP19 encodes aromatase, and gain of function mutations cause this syndrome. The authors describe a family with aromatase excess syndrome that have an abnormal chimeric CYP19 mRNA that is fused with exon 1 of DMXL2 (normally ~380 kb upstream of CYP19). They performed real-time PCR on 7 segments of DNA from exon 2 of DMXL2 to CYP19. In the affected mom and son, they found a ~145 kb deletion that includes exon 2 DMXL2 through the last exon of the gene. PMID:21470988 Fukami et al. (2011) identified chimeric transcripts in families with AES. They identified a ~212 kb deletion involving exons 2-43 of DMXL2 along with exons 5-10 of GLDN in one family. In three additional families, they identified a ~166 kb deletion involving exons 2-43 of DMXL2. These deletions resulted in a chimeric transcript including exon 1 of DMXL2 and CYP19A1 coding exons.

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000015.9) (NC_000015.10)