Dispatched RND Transporter Family, Member 3

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Alternative Names

  • DISP3
  • Dispatched, Drosophila, Homolog of, 3
  • Patched Domain-Containing Protein 2
  • PTCHD2
  • KIAA1337

Associated Diseases

Intellectual Deficiency, Autosomal Recessive, Unclassified
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OMIM Number

611251

NCBI Gene ID

57540

Uniprot ID

Q9P2K9

Length

58,397 bases

No. of Exons

24

No. of isoforms

2

Protein Name

Protein dispatched homolog 3

Molecular Mass

153048 Da

Amino Acid Count

1392

Genomic Location

chr1:11,479,155-11,537,551

Gene Map Locus
1p36.22

Description

Involved in negative regulation of neuron differentiation; positive regulation of lipid metabolic process; and positive regulation of neural precursor cell proliferation. Located in cytoplasm. [From Alliance of Genome Resources]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_020780.2:c.3555C>TJordanNC_000001.11:g.11535030C>TUncertain SignificanceIntellectual Deficiency, Autosomal Recessive, UnclassifiedNM_020780.2:c.3555C>T; NP_065831.1:p.Cys1185=41274536
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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=DISP3

Contributors

  • Pratibha Nair: 20.09.2023

Edit History

  • Pratibha Nair: 20.09.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.