1. Gene
  2. INPP4A - inositol polyphosphate-4-phosphatase type I A Gene

INPP4A - inositol polyphosphate-4-phosphatase type I A Gene

Homo sapiens

Also known as INPP4; TVAS1

Gene ID: 3631 | Gene type: protein coding

About INPP4A

Cytogenetic location: 2q11.2 Genomic coordinates (GRCh38): 2:98,444,587-98,594,392 (from NCBI)

This gene has 10 transcripts (splice variants), 275 orthologues, 1 paralogue and is associated with 1 phenotype. Ubiquitous expression in brain (RPKM 6.3), spleen (RPKM 4.2) and 24 other tissues.

Summary

This gene encodes an Mg++ independent Enzyme that hydrolyzes the 4-position phosphate from the inositol ring of phosphatidylinositol 3,4-bisphosphate, inositol 1,3,4-trisphosphate, and inositol 3,4-bisphosphate. Multiple transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Aug 2008]

INPP4A Products(10)

mRNA Protein Name
NM_001134224.2 NP_001127696.1 inositol polyphosphate-4-phosphatase type I A isoform d
NM_001134225.2 NP_001127697.1 inositol polyphosphate-4-phosphatase type I A isoform c
NM_001351424.1 NP_001338353.1 inositol polyphosphate-4-phosphatase type I A isoform e
NM_001351425.2 NP_001338354.1 inositol polyphosphate-4-phosphatase type I A isoform f
NM_001351426.2 NP_001338355.1 inositol polyphosphate-4-phosphatase type I A isoform f
NM_001351427.2 NP_001338356.1 inositol polyphosphate-4-phosphatase type I A isoform a
NM_001351428.2 NP_001338357.1 inositol polyphosphate-4-phosphatase type I A isoform g
NM_001351429.2 NP_001338358.1 inositol polyphosphate-4-phosphatase type I A isoform h
NM_001566.2 NP_001557.1 inositol polyphosphate-4-phosphatase type I A isoform b
NM_004027.3 NP_004018.1 inositol polyphosphate-4-phosphatase type I A isoform a
Protein Preferred Names Protein Names

inositol polyphosphate-4-phosphatase type I A

inositol polyphosphate-4-phosphatase, type I, 107kD

Related Diseases

Diseases Alias
Dyskeratosis Congenita, Autosomal Dominant 1

DKCA1

Dyskeratosis Congenita, Scoggins Type

Autosomal Dominant Dyskeratosis Congenita 1

Dyskeratosis Congenita, Autosomal Dominant, Type 1

Dyskeratosis Congenita, Autosomal Dominant

Pectus Excavatum

Funnel Chest

Congenital Pectus Excavatum

Dyskeratosis Congenita

Dyskeratosis Congenita Autosomal Dominant

Dc

Dkc

Zinsser-Engman-Cole Syndrome

Dyskeratosis Congenita, Autosomal Dominant

Autosomal Dominant Dyskeratosis Congenita

Dkca

Dyskeratosis Congenita Scoggins Type

Zinsser-Cole-Engman Syndrome

X-Linked Dyskeratosis Congenita

Hoyeraal-Hreidarsson Syndrome

Hypotonia
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Lowe Oculocerebrorenal Syndrome

Lowe Syndrome

Oculocerebrorenal Syndrome

OCRL

Oculocerebrorenal Syndrome Of Lowe

Ocrl1

Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency

Lowe Disease

Phosphatidylinositol 4,5-Biphosphate 5-Phosphatase Deficiency

Cerebrooculorenal Syndrome

Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency

Lowe Oculo-Cerebro-Renal Dystrophy

Lowe Oculo-Cerebro-Renal Syndrome

Lowe Oculocerebrorenal Dystrophy

Low

Chromosome 11p Deletion Syndrome

Oculocerebrorenal Dystrophy

Cerebro-Oculorenal Dystrophy

Ocrl1 - [Oculocerebrorenal Syndrome]

Lowe-Terrey-Maclachlan Syndrome

Renal-Oculocerebrodystrophy

Joubert Syndrome 1

Joubert Syndrome

Jbts

Cerebellooculorenal Syndrome 1

JBTS1

Joubert-Boltshauser Syndrome

Cerebelloparenchymal Disorder Iv

Cpd4

Cors1

Joubert Syndrome And Related Disorders

Jsrd

Familial Aplasia Of The Vermis

Joubert Syndrome Related Disorders

Js

Cerebellar Vermis Agenesis

Cerebelloparenchymal Disorder 4

Agenesis Of Cerebellar Vermis

Cerebello-Oculo-Renal Syndrome

Cors

Joubert-Bolthauser Syndrome

Cpd Iv

Classic Joubert Syndrome

Joubert Syndrome Type A

Pure Joubert Syndrome

Cerebello-Oculo-Renal Syndrome 1

Joubert Syndrome-1

Joubert Syndrome, Type 1

Joubert'S Syndrome

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus INPP4A VGNC VGNC:30209
Mus musculus INPP4A MGD MGI:1931123
Canis familiaris INPP4A VGNC VGNC:42028
Rattus norvegicus INPP4A RGD RGD:68386
Felis catus INPP4A VGNC VGNC:67805
Macaca mulatta INPP4A VGNC VGNC:73747