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 LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_019892.6:c.1534C>T Oman; United Arab Emir...NC_000009.12:g.136431839G>AUncertain SignificancePathogenicJoubert Syndrome 1NG_016126.1:g.12966C>T; NM_019892.6:c.1534C>T ; NP_063945.2:p.Arg512Trp3741520181437873
NM_019892.6:c.1543C>TOman; United Arab Emir...NC_000009.12:g.136431830G>ALikely PathogenicPathogenicJoubert Syndrome 1NG_016126.1:g.12975C>T; NM_019892.6:c.1543C>T; NP_063945.2:p.Arg515Trp13297509397
NM_019892.6:c.1688G>AUnited Arab EmiratesNC_000009.12:g.136430391C>TPathogenicPathogenicJoubert Syndrome 1NG_016126.1:g.14414G>A; NM_019892.6:c.1688G>A; NP_063945.2:p.Arg563His121918128398
NM_019892.6:c.1738A>GEgyptNC_000009.12:g.136430341T>CLikely PathogenicJoubert Syndrome 1NG_016126.1:g.14464A>G; NM_019892.6:c.1738A>G; NP_063945.2:p.Lys580Glu
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