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] See more...

Aliases for INPP4A Gene

Aliases for INPP4A Gene

  • Inositol Polyphosphate-4-Phosphatase Type I A 2 3 4 5
  • Type I Inositol 3,4-Bisphosphate 4-Phosphatase 2 3 4
  • Inositol Polyphosphate-4-Phosphatase, Type I, 107kDa 2 3
  • Inositol Polyphosphate-4-Phosphatase, Type I, 107kD 2 3
  • EC 3.1.3.66 4 50
  • Inositol Polyphosphate 4-Phosphatase Type I 4
  • INPP4A 5
  • INPP4 3
  • TVAS1 3

External Ids for INPP4A Gene

Previous HGNC Symbols for INPP4A Gene

  • INPP4

Previous GeneCards Identifiers for INPP4A Gene

  • GC02P097017
  • GC02P097513
  • GC02P098665
  • GC02P098682
  • GC02P099061
  • GC02P092826

Summaries for INPP4A Gene

Entrez Gene Summary for INPP4A Gene

  • 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]

GeneCards Summary for INPP4A Gene

INPP4A (Inositol Polyphosphate-4-Phosphatase Type I A) is a Protein Coding gene. Diseases associated with INPP4A include Alacrima, Achalasia, And Mental Retardation Syndrome and Disease Of Mental Health. Among its related pathways are Glycerophospholipid biosynthesis and superpathway of inositol phosphate compounds. Gene Ontology (GO) annotations related to this gene include phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity and phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity. An important paralog of this gene is INPP4B.

UniProtKB/Swiss-Prot Summary for INPP4A Gene

  • Catalyzes the hydrolysis of the 4-position phosphate of phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) (PubMed:20463662, PubMed:15716355). Catalyzes also inositol 1,3,4-trisphosphate and inositol 1,4-bisphosphate (By similarity). Antagonizes the PI3K-AKT/PKB signaling pathway by dephosphorylating phosphoinositides and thereby modulating cell cycle progression and cell survival (PubMed:30071275) (By similarity). May protect neurons from excitotoxic cell death by regulating the synaptic localization of cell surface N-methyl-D-aspartate-type glutamate receptors (NMDARs) and NMDAR-mediated excitatory postsynaptic current (By similarity).
  • [Isoform 4]: Displays no 4-phosphatase activity for PtdIns(3,4)P2, Ins(3,4)P2, or Ins(1,3,4)P3.

Gene Wiki entry for INPP4A Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for INPP4A Gene

Genomics for INPP4A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for INPP4A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J098444 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 261.4 +1.4 1363 3.8 BCLAF1 ZNF600 IKZF1 ZNF592 KLF9 POLR2A ZIC2 MXD4 NONO REST INPP4A LIPT1 lnc-CNGA3-1 COA5
GH02J098520 Promoter/Enhancer 0.7 EPDnew dbSUPER 250.2 +75.6 75552 0.1 ATF2 CREB1 HSALNG0017198 INPP4A HSALNG0017199 COA5
GH02J098606 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 18.3 +164.2 164228 4.3 BCLAF1 ZNF207 MYC ZNF600 ZMYM3 KLF9 POLR2A CEBPA CHD4 ZBTB10 UNC50 COA5 HSALNG0017209 lnc-MGAT4A-1 INPP4A ENSG00000273306 TMEM131 MITD1 REV1 RNU7-46P
GH02J098462 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 29.2 +24.5 24475 12.9 BCLAF1 SP1 ZNF207 MYC ZNF592 POLR2A NFIC BCL11A TRIM22 HES1 INPP4A LINC02611 TMEM131 UNC50 MGAT4A lnc-CNGA3-1 COA5
GH02J098503 Promoter/Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 25.2 +60.9 60941 3.5 ZNF316 SPI1 MAFK MAFG ZNF664 MAFF OSR2 SCRT2 EMSY INPP4A CNGA3 ENSG00000227987 MGAT4A UNC50 HSALNG0017197 piR-53013 COA5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around INPP4A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for INPP4A

Top Transcription factor binding sites by QIAGEN in the INPP4A gene promoter:
  • Brachyury
  • C/EBPalpha
  • Cart-1
  • Gfi-1
  • HNF-1
  • HNF-1A
  • HSF2
  • Pax-6
  • POU3F1
  • Sp1

Genomic Locations for INPP4A Gene

Latest Assembly
chr2:98,444,538-98,594,392
(GRCh38/hg38)
Size:
149,855 bases
Orientation:
Plus strand

Previous Assembly
chr2:99,061,050-99,210,855
(GRCh37/hg19 by Entrez Gene)
Size:
149,806 bases
Orientation:
Plus strand

chr2:99,061,317-99,210,853
(GRCh37/hg19 by Ensembl)
Size:
149,537 bases
Orientation:
Plus strand

Genomic View for INPP4A Gene

Genes around INPP4A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
INPP4A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for INPP4A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for INPP4A Gene

Proteins for INPP4A Gene

  • Protein details for INPP4A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96PE3-INP4A_HUMAN
    Recommended name:
    Inositol polyphosphate-4-phosphatase type I A
    Protein Accession:
    Q96PE3
    Secondary Accessions:
    • O15326
    • Q13187
    • Q53TD8
    • Q8TC02

    Protein attributes for INPP4A Gene

    Size:
    977 amino acids
    Molecular mass:
    109956 Da
    Quaternary structure:
    • Interacts with INPP5F.
    Miscellaneous:
    • [Isoform 4]: Inactive.

    Alternative splice isoforms for INPP4A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for INPP4A Gene

Selected DME Specific Peptides for INPP4A Gene

Q96PE3:
  • YRPPEGTYGK
  • PVLFNVGINEQQTLAERFGD
  • CGFIIKL
  • MSVTLEQC
  • CKSAKDRT

Post-translational modifications for INPP4A Gene

  • Ubiquitination at Lys959
  • Modification sites at PhosphoSitePlus

Antibodies for research

  • Abcam antibodies for INPP4A
  • Boster Bio Antibodies for INPP4A

Domains & Families for INPP4A Gene

Gene Families for INPP4A Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for INPP4A Gene

InterPro:
Blocks:
  • C2 domain

Suggested Antigen Peptide Sequences for INPP4A Gene

GenScript: Design optimal peptide antigens:
  • Inositol polyphosphate-4-phosphatase, type I, 107kDa, isoform CRA_c (D3DVH3_HUMAN)
  • Inositol polyphosphate 4-phosphatase type I (INP4A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96PE3

UniProtKB/Swiss-Prot:

INP4A_HUMAN :
  • Belongs to the inositol 3,4-bisphosphate 4-phosphatase family.
Family:
  • Belongs to the inositol 3,4-bisphosphate 4-phosphatase family.
genes like me logo Genes that share domains with INPP4A: view

Function for INPP4A Gene

Molecular function for INPP4A Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the hydrolysis of the 4-position phosphate of phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) (PubMed:20463662, PubMed:15716355). Catalyzes also inositol 1,3,4-trisphosphate and inositol 1,4-bisphosphate (By similarity). Antagonizes the PI3K-AKT/PKB signaling pathway by dephosphorylating phosphoinositides and thereby modulating cell cycle progression and cell survival (PubMed:30071275) (By similarity). May protect neurons from excitotoxic cell death by regulating the synaptic localization of cell surface N-methyl-D-aspartate-type glutamate receptors (NMDARs) and NMDAR-mediated excitatory postsynaptic current (By similarity).
UniProtKB/Swiss-Prot Function:
[Isoform 4]: Displays no 4-phosphatase activity for PtdIns(3,4)P2, Ins(3,4)P2, or Ins(1,3,4)P3.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3,4-bisphosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3-phosphate) + phosphate; Xref=Rhea:RHEA:17193, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:57658, ChEBI:CHEBI:58088; EC=3.1.3.66; Evidence={ECO:0000269|PubMed:15716355, ECO:0000269|PubMed:20463662};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1D-myo-inositol 3,4-bisphosphate + H2O = 1D-myo-inositol 3-phosphate + phosphate; Xref=Rhea:RHEA:43388, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:58401, ChEBI:CHEBI:83241; Evidence={ECO:0000250|UniProtKB:Q62784};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1D-myo-inositol 1,3,4-trisphosphate + H2O = 1D-myo-inositol 1,3-bisphosphate + phosphate; Xref=Rhea:RHEA:43392, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:58414, ChEBI:CHEBI:83242; Evidence={ECO:0000250|UniProtKB:Q62784};.

Enzyme Numbers (IUBMB) for INPP4A Gene

Phenotypes From GWAS Catalog for INPP4A Gene

Gene Ontology (GO) - Molecular Function for INPP4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25869668
GO:0016316 phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity IBA 21873635
GO:0016787 hydrolase activity IEA --
GO:0034597 phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity IEA --
genes like me logo Genes that share ontologies with INPP4A: view
genes like me logo Genes that share phenotypes with INPP4A: view

Animal Models for INPP4A Gene

MGI Knock Outs for INPP4A:

Animal Models for research

  • Taconic Biosciences Mouse Models for INPP4A

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for INPP4A

Clone products for research

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for INPP4A Gene

Localization for INPP4A Gene

Subcellular locations from UniProtKB/Swiss-Prot for INPP4A Gene

Early endosome membrane. Recycling endosome membrane. Cell membrane. Nucleus. Cytoplasm. Cell junction, synapse, postsynaptic density. Note=Translocates to the plasma membrane upon EGF stimulation (PubMed:15716355). Shuttles between the cytoplasm and the nucleus, depending on the cell cycle stage, with highest amounts detected in the nucleus during the G0/G1phase (PubMed:30071275). {ECO:0000269 PubMed:15716355, ECO:0000269 PubMed:30071275}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for INPP4A gene
Compartment Confidence
nucleus 5
plasma membrane 4
endosome 4
cytosol 4
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for INPP4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 30071275
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IBA,IDA 30071275
GO:0005768 endosome IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with INPP4A: view

Pathways & Interactions for INPP4A Gene

genes like me logo Genes that share pathways with INPP4A: view

UniProtKB/Swiss-Prot Q96PE3-INP4A_HUMAN

  • Pathway: Signal transduction; phosphatidylinositol signaling pathway.

Gene Ontology (GO) - Biological Process for INPP4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0007165 signal transduction TAS 7608176
GO:0016311 dephosphorylation IEA --
GO:0036092 phosphatidylinositol-3-phosphate biosynthetic process IEA --
GO:0043647 inositol phosphate metabolic process TAS --
genes like me logo Genes that share ontologies with INPP4A: view

No data available for SIGNOR curated interactions for INPP4A Gene

Drugs & Compounds for INPP4A Gene

(2) Drugs for INPP4A Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Phosphate Experimental Pharma 0

(3) Additional Compounds for INPP4A Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
D-myo-Inositol 3,4-bisphosphate
  • D-Myo-inositol 3,4-bisphosphate
  • Inositol 3,4-bisphosphate
  • D-Myo-inositol 3,4-bisphosphoric acid
  • Inositol 3,4-bisphosphoric acid
  • 1D-Myo-inositol 3,4-bisphosphoric acid
69256-53-7
D-myo-Inositol 3-phosphate
  • 1D-Myo-inositol 3-monophosphate
  • 1l-Myo-inositol 1-phosphate
  • D-Myo-inositol 3-monophosphate
  • Inositol 3-phosphate
  • L-Myo-inositol 1-phosphate
2831-74-5
Inositol phosphate
  • 1D-Myo-inositol 1-monophosphate
  • D-Myo-inositol 1-phosphate
  • I1P
  • Inositol 1-phosphate
  • Ins(1)p
15421-51-9
genes like me logo Genes that share compounds with INPP4A: view

Transcripts for INPP4A Gene

mRNA/cDNA for INPP4A Gene

10 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for INPP4A

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for INPP4A Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
SP1: - - -
SP2:
SP3:
SP4:

ExUns: 24 ^ 25 ^ 26 ^ 27 ^ 28
SP1: - -
SP2:
SP3:
SP4:

Relevant External Links for INPP4A Gene

GeneLoc Exon Structure for
INPP4A

Expression for INPP4A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for INPP4A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for INPP4A Gene

This gene is overexpressed in CD8 Tcells (10.1), Brain (9.1), Lymph node (7.4), and Frontal cortex (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for INPP4A Gene



Protein tissue co-expression partners for INPP4A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for INPP4A

SOURCE GeneReport for Unigene cluster for INPP4A Gene:

Hs.469386

mRNA Expression by UniProt/SwissProt for INPP4A Gene:

Q96PE3-INP4A_HUMAN
Tissue specificity: Isoform 1 is expressed in the platelets, MEG-01 megakaryocytes and Jurkat T-cells. Isoform 2 is expressed in the brain.

Evidence on tissue expression from TISSUES for INPP4A Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with INPP4A: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for INPP4A Gene

Orthologs for INPP4A Gene

This gene was present in the common ancestor of animals.

Orthologs for INPP4A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia INPP4A 29 30
  • 99.69 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia INPP4A 29 30
  • 92.73 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia INPP4A 30
  • 91 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia INPP4A 29 30
  • 90.56 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Inpp4a 29 16 30
  • 89.98 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Inpp4a 29
  • 89.45 (n)
Chicken
(Gallus gallus)
Aves INPP4A 29 30
  • 79.9 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia INPP4A 30
  • 89 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii inpp4ab 30
  • 82 (a)
OneToMany
inpp4aa 29 30
  • 71.77 (n)
OneToMany
Dr.12539 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000124 29
  • 47.13 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG42271 29 30
  • 47.07 (n)
OneToMany
CG1846 31
  • 36 (a)
Worm
(Caenorhabditis elegans)
Secernentea R01H10.7 30
  • 22 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 39 (a)
OneToMany
Species where no ortholog for INPP4A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for INPP4A Gene

ENSEMBL:
Gene Tree for INPP4A (if available)
TreeFam:
Gene Tree for INPP4A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for INPP4A: view image
Alliance of Genome Resources:
Additional Orthologs for INPP4A

Paralogs for INPP4A Gene

Paralogs for INPP4A Gene

(1) SIMAP similar genes for INPP4A Gene using alignment to 4 proteins:

  • INP4A_HUMAN
  • B8ZZB2_HUMAN
  • D3DVH3_HUMAN
  • F5H860_HUMAN
genes like me logo Genes that share paralogs with INPP4A: view

Variants for INPP4A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for INPP4A Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs111489045 Benign: not provided 98,564,645(+) C/T
NM_001134225.2(INPP4A):c.2034C>T (p.Thr678=)
SYNONYMOUS
rs1306444586 Likely Pathogenic: Dyskeratosis congenita, autosomal dominant 1 98,520,084(+) C/T
NM_001134225.2(INPP4A):c.36C>T (p.Ala12=)
SYNONYMOUS
rs144299785 Benign: not provided 98,563,574(+) C/T
NM_001134225.2(INPP4A):c.1965C>T (p.Ser655=)
SYNONYMOUS
rs150565121 Likely Benign: not provided 98,554,449(+) G/A
NM_001134225.2(INPP4A):c.1526G>A (p.Ser509Asn)
MISSENSE
rs1574887674 Pathogenic: Intellectual disability 98,520,695(+) C/T
NM_001134225.2(INPP4A):c.115C>T (p.Gln39Ter)
NONSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for INPP4A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for INPP4A Gene

Variant ID Type Subtype PubMed ID
nsv1007244 CNV gain 25217958
nsv1133477 CNV deletion 24896259
nsv2840 CNV deletion 18451855
nsv518056 CNV gain 19592680

Variation tolerance for INPP4A Gene

Residual Variation Intolerance Score: 5.85% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.03; 50.22% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for INPP4A Gene

Human Gene Mutation Database (HGMD)
INPP4A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
INPP4A
Leiden Open Variation Database (LOVD)
INPP4A

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for INPP4A Gene

Disorders for INPP4A Gene

MalaCards: The human disease database

(13) MalaCards diseases for INPP4A Gene - From: CVR, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for INPP4A

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with INPP4A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for INPP4A Gene

Publications for INPP4A Gene

  1. The cDNA cloning and characterization of inositol polyphosphate 4-phosphatase type II. Evidence for conserved alternative splicing in the 4-phosphatase family. (PMID: 9295334) Norris FA … Majerus PW (The Journal of biological chemistry 1997) 2 3 4 22
  2. A genetic variation in inositol polyphosphate 4 phosphatase a enhances susceptibility to asthma. (PMID: 18187694) Sharma M … Ghosh B (American journal of respiratory and critical care medicine 2008) 3 22 40
  3. Identification of a novel spliceoform of inositol polyphosphate 4-phosphatase type Ialpha expressed in human platelets: structure of human inositol polyphosphate 4-phosphatase type I gene. (PMID: 11485317) Shearn CT … Norris FA (Biochemical and biophysical research communications 2001) 3 4 22
  4. The isolation and characterization of cDNA encoding human and rat brain inositol polyphosphate 4-phosphatase. (PMID: 7608176) Norris FA … Majerus PW (The Journal of biological chemistry 1995) 2 3 4
  5. Novel nuclear translocation of inositol polyphosphate 4-phosphatase is associated with cell cycle, proliferation and survival. (PMID: 30071275) Chaudhuri R … Ghosh B (Biochimica et biophysica acta. Molecular cell research 2018) 3 4

Products for INPP4A Gene

Sources for INPP4A Gene