DMX-Like 2

Alternative Names

  • DMXL2
  • Rabconnectin 3
  • RC3
  • KIAA0856
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OMIM Number

612186

NCBI Gene ID

23312

Uniprot ID

Q8TDJ6

Length

174,981 bases

No. of Exons

47

No. of isoforms

3

Protein Name

DmX-like protein 2

Molecular Mass

339641 Da

Amino Acid Count

3036

Genomic Location

chr15:51,447,791-51,622,771

Gene Map Locus
15q21.2

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001378457.1:c.6257_6258insTTACATGASaudi ArabiaNC_000015.10:g.51480853_51480854insTAATCATGPathogenicLikely PathogenicDevelopmental and Epileptic Encephalopathy 81NG_017155.1:g.146922_146923insTTACATGA; NM_001378457.1:c.6257_6258insTTACATGA; NP_001365386.1:p.Glu2086AspfsTer231595955503694529
NM_001378457.1:c.796C>TUnited Arab EmiratesNC_000015.10:g.51545717G>AUncertain SignificanceNG_017155.1:g.82054C>T; NM_001378457.1:c.796C>T; NP_001365386.1:p.Arg266Trp774281287
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