Potassium Channel Tetramerization Domain-Containing Protein 8

Alternative Names

  • KCTD8

Associated Diseases

Type 2 Diabetes Mellitus
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OMIM Number

618442

NCBI Gene ID

386617

Uniprot ID

Q6ZWB6

Length

274,907 bases

No. of Exons

3

No. of isoforms

1

Protein Name

BTB/POZ domain-containing protein KCTD8

Molecular Mass

52440 Da

Amino Acid Count

473

Genomic Location

chr4:44,173,902-44,448,808

Gene Map Locus
4p13

Description

Predicted to be involved in regulation of G protein-coupled receptor signaling pathway. Predicted to be located in cell projection; postsynaptic membrane; and presynaptic membrane. Predicted to be integral component of membrane. Predicted to be part of receptor complex. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_198353.2:c.961+36643G>AArab; United Arab Emir...NC_000004.12:g.44410920C>TAssociationType 2 Diabetes MellitusNM_198353.2:c.961+36643G>A; NP_938167.1:p.?4695718
NM_198353.2:c.961+67621C>AArab; United Arab Emir...NC_000004.12:g.44379942G>TAssociationType 2 Diabetes MellitusNM_198353.2:c.961+67621C>A; NP_938167.1:p.?4407541
NM_198353.2:c.961+94716G>AArab; United Arab Emir...NC_000004.12:g.44352847C>TNM_198353.2:c.961+94716G>A; NP_938167.1:p.?7675224
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