Inositol Polyphosphate-5-Phosphatase, 72-KD

Alternative Names

  • INPP5E

Associated Diseases

Joubert Syndrome 1
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OMIM Number

613037

NCBI Gene ID

56623

Uniprot ID

Q9NRR6

Length

11,245 bases

No. of Exons

10

No. of isoforms

2

Protein Name

Phosphatidylinositol polyphosphate 5-phosphatase type IV

Molecular Mass

70205 Da

Amino Acid Count

644

Genomic Location

chr9:136,428,615-136,439,859

Gene Map Locus
9q34.3

Description

INPP5E gene encodes a protein named phosphatidylinositol polyphosphate 5-phosphatase type IV, which plays a critical role in phosphoinositide 3-kinase (PI3K) signaling and regulation of protein localization to cilium. Studies also suggest a possible regulatory role in Golgi-vesicular trafficking. Mutations in INPP5E gene result in altered cellular PtdIns ratios and promote premature destabilization of cilial response to stimulation.

Defects in the INPP5E gene cause Joubert syndrome type 1 and mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome. 

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_019892.6:c.1534C>T United Arab Emirateschr9:136431839Joubert Syndrome 1NG_016126.1:g.12966C>T; NM_019892.6:c.1534C>T ; NP_063945.2:p.Arg512Trp374152018
NM_019892.6:c.1543C>TUnited Arab Emirateschr9:136431830PathogenicJoubert Syndrome 1NG_016126.1:g.12975C>T; NM_019892.6:c.1543C>T; NP_063945.2:p.Arg515Trp13297509397

Other Reports

Oman

[See also: UAE > Ben-Salem et al., 2014].

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