Homeodomain-Interacting Protein Kinase 4

Alternative Names

  • HIPK4

Associated Diseases

Spermatogenic Failure 1
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OMIM Number

611712

NCBI Gene ID

147746

Uniprot ID

Q8NE63

Length

10,911 bases

No. of Exons

4

No. of isoforms

1

Protein Name

Homeodomain-interacting protein kinase 4

Molecular Mass

69425 Da

Amino Acid Count

616

Genomic Location

chr19:40,379,271-40,390,181

Gene Map Locus
19q13.2

Description

This gene encodes a member of the homeodomain interacting protein kinase (HIPK) family of proteins. While other members of this family are found throughout vertebrates, this member is present only in mammals. Compared to other members of this family, the encoded protein lacks a nuclear localization signal and a C-terminal autoinhibitory domain. The encoded protein exhibits kinase activity and may phosphorylate the tumor suppressor protein p53. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_144685.5:c.935C>TSaudi ArabiaNC_000019.10:g.40381056G>ALikely PathogenicSpermatogenic Failure 1NG_051224.1:g.14166C>T; NM_144685.5:c.935C>T; NP_653286.2:p.Ala312Val770966226
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