DMXL2 Dmx like 2

Gene ID: 23312, updated on 5-Mar-2024
Gene type: protein coding
Also known as: RC3; DEE81; PEPNS; DFNA71; EIEE81

Summary

This gene encodes a protein with 12 WD domains. Proteins with WD domains are involved in many functions including participation in signal transduction pathways. Participation of the encoded protein in regulation of the Notch signaling pathway has been demonstrated in vitro using several human cell lines (PMID:20810660). A gene encoding a similar protein is located on chromosome 5. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Developmental and epileptic encephalopathy, 81 MedGen: C5231450OMIM: 618663GeneReviews: Not available	See labs
Hearing loss, autosomal dominant 71 MedGen: C4539881OMIM: 617605GeneReviews: Not available	See labs
Polyendocrine-polyneuropathy syndrome MedGen: C4015261OMIM: 616113GeneReviews: Not available	See labs

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2012-04-04) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2012-04-04) ClinGen Genome Curation Page

Genomic context

Location:: 15q21.2

Sequence:: Chromosome: 15; NC_000015.10 (51447791..51622771, complement)

Total number of exons:: 47

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for DMXL2 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.