This gene encodes a protein with 5-phosphatase activity toward polyphosphate inositol. The protein localizes to the cytosol in regions lacking actin stress fibers. It is thought that this protein may negatively regulate the actin cytoskeleton. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008] See more...

Aliases for INPP5K Gene

Aliases for INPP5K Gene

  • Inositol Polyphosphate-5-Phosphatase K 2 3 5
  • Skeletal Muscle And Kidney-Enriched Inositol Phosphatase 3 4
  • Phosphatidylinositol-3,4,5-Trisphosphate 5-Phosphatase 3 4
  • Phosphatidylinositol-4,5-Bisphosphate 5-Phosphatase 3 4
  • Inositol Polyphosphate 5-Phosphatase K 3 4
  • EC 3.1.3.56 4 52
  • SKIP 3 4
  • PPS 3 4
  • Skeletal Muscle And Kidney Enriched Inositol Phosphatase 2
  • EC 3.1.3.86 4
  • EC 3.1.3.36 4
  • EC 3.1.3 52
  • MDCCAID 3

External Ids for INPP5K Gene

Previous GeneCards Identifiers for INPP5K Gene

  • GC17M001345
  • GC17M001397

Summaries for INPP5K Gene

Entrez Gene Summary for INPP5K Gene

  • This gene encodes a protein with 5-phosphatase activity toward polyphosphate inositol. The protein localizes to the cytosol in regions lacking actin stress fibers. It is thought that this protein may negatively regulate the actin cytoskeleton. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]

GeneCards Summary for INPP5K Gene

INPP5K (Inositol Polyphosphate-5-Phosphatase K) is a Protein Coding gene. Diseases associated with INPP5K include Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability and Marinesco-Sjogren Syndrome. Among its related pathways are superpathway of inositol phosphate compounds and Regulation of lipid metabolism Insulin signaling-generic cascades. Gene Ontology (GO) annotations related to this gene include vasopressin receptor activity and lipid phosphatase activity. An important paralog of this gene is INPP5J.

UniProtKB/Swiss-Prot Summary for INPP5K Gene

  • Inositol 5-phosphatase which acts on inositol 1,4,5-trisphosphate, inositol 1,3,4,5-tetrakisphosphate, phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate (PubMed:10753883, PubMed:16824732). Has 6-fold higher affinity for phosphatidylinositol 4,5-bisphosphate than for inositol 1,4,5-trisphosphate (PubMed:10753883). Negatively regulates assembly of the actin cytoskeleton. Controls insulin-dependent glucose uptake among inositol 3,4,5-trisphosphate phosphatases; therefore, is the specific regulator for insulin signaling in skeletal muscle (By similarity).

Gene Wiki entry for INPP5K Gene

Additional gene information for INPP5K Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for INPP5K Gene

Genomics for INPP5K Gene

GeneHancer (GH) Regulatory Elements for INPP5K Gene

Promoters and enhancers for INPP5K Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around INPP5K on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for INPP5K

Top Transcription factor binding sites by QIAGEN in the INPP5K gene promoter:
  • ATF
  • E47
  • FOXC1
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1a
  • MIF-1
  • Pax-4a
  • RORalpha2

Genomic Locations for INPP5K Gene

Genomic Locations for INPP5K Gene
chr17:1,494,575-1,516,888
(GRCh38/hg38)
Size:
22,314 bases
Orientation:
Minus strand
chr17:1,397,865-1,420,182
(GRCh37/hg19)
Size:
22,318 bases
Orientation:
Minus strand

Genomic View for INPP5K Gene

Genes around INPP5K on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
INPP5K Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for INPP5K Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for INPP5K Gene

Proteins for INPP5K Gene

  • Protein details for INPP5K Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BT40-INP5K_HUMAN
    Recommended name:
    Inositol polyphosphate 5-phosphatase K
    Protein Accession:
    Q9BT40
    Secondary Accessions:
    • B2R6I2
    • B2R750
    • D3DTH8
    • Q15733
    • Q9NPJ5
    • Q9P2R5

    Protein attributes for INPP5K Gene

    Size:
    448 amino acids
    Molecular mass:
    51090 Da
    Quaternary structure:
    • Interacts with GPR78; necessary for INPP5K localization at the endoplasmic reticulum. Interacts with PAK1; competes with GPR78.

    Alternative splice isoforms for INPP5K Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for INPP5K Gene

Selected DME Specific Peptides for INPP5K Gene

Q9BT40:
  • FPPTYKF
  • KKRKPAWTDRILW
  • WDWIGLY
  • LWEKDQL

Post-translational modifications for INPP5K Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for INPP5K Gene

Gene Families for INPP5K Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for INPP5K Gene

Blocks:
  • Inositol polyphosphate related phosphatase family
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for INPP5K Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57541, highly similar to Skeletal muscle and kidney-enriched inositol phosphatase (EC 3.1.3.56) (B7Z4V9_HUMAN)
  • Skeletal muscle and kidney-enriched inositol phosphatase (INP5K_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BT40

UniProtKB/Swiss-Prot:

INP5K_HUMAN :
  • Belongs to the inositol 1,4,5-trisphosphate 5-phosphatase type II family.
Family:
  • Belongs to the inositol 1,4,5-trisphosphate 5-phosphatase type II family.
genes like me logo Genes that share domains with INPP5K: view

Function for INPP5K Gene

Molecular function for INPP5K Gene

UniProtKB/Swiss-Prot Function:
Inositol 5-phosphatase which acts on inositol 1,4,5-trisphosphate, inositol 1,3,4,5-tetrakisphosphate, phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate (PubMed:10753883, PubMed:16824732). Has 6-fold higher affinity for phosphatidylinositol 4,5-bisphosphate than for inositol 1,4,5-trisphosphate (PubMed:10753883). Negatively regulates assembly of the actin cytoskeleton. Controls insulin-dependent glucose uptake among inositol 3,4,5-trisphosphate phosphatases; therefore, is the specific regulator for insulin signaling in skeletal muscle (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1D-myo-inositol 1,4,5-trisphosphate + H2O = 1D-myo-inositol 1,4-bisphosphate + phosphate; Xref=Rhea:RHEA:19797, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:58282, ChEBI:CHEBI:203600; EC=3.1.3.56; Evidence={ECO:0000269 PubMed:10753883, ECO:0000269 PubMed:28190456, ECO:0000269 PubMed:28190459}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:19798; Evidence={ECO:0000305 PubMed:10753883, ECO:0000305 PubMed:28190456, ECO:0000305 PubMed:28190459};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1D-myo-inositol 1,3,4,5-tetrakisphosphate + H2O = 1D-myo-inositol 1,3,4-trisphosphate + phosphate; Xref=Rhea:RHEA:11392, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:57895, ChEBI:CHEBI:58414; EC=3.1.3.56; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:11393; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-4,5-bisphosphate) + H2O = 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol 4-phosphate) + phosphate; Xref=Rhea:RHEA:22764, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:58178, ChEBI:CHEBI:58456; EC=3.1.3.36; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:22765; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3,4,5-trisphosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3,4-bisphosphate) + phosphate; Xref=Rhea:RHEA:25528, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:57658, ChEBI:CHEBI:57836; EC=3.1.3.86; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:25529; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1,2-dioctanoyl-sn-glycero-3-phospho-(1D-myo-inositol-3,4,5-trisphosphate) + H2O = 1,2-dioctanoyl-sn-glycero-3-phospho-(1D-myo-inositol-3,4-bisphosphate) + phosphate; Xref=Rhea:RHEA:43548, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:83416, ChEBI:CHEBI:83417; Evidence={ECO:0000269 PubMed:10753883, ECO:0000269 PubMed:16824732}; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:43550; Evidence=. ;.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=180 uM for phosphatidylinositol 4,5-bisphosphate {ECO:0000269 PubMed:10753883}; KM=1.15 mM for phosphatidylinositol 3,4,5-trisphosphate {ECO:0000269 PubMed:10753883};

Enzyme Numbers (IUBMB) for INPP5K Gene

Phenotypes From GWAS Catalog for INPP5K Gene

Gene Ontology (GO) - Molecular Function for INPP5K Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004439 phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity IBA,IMP 28190456
GO:0004445 inositol-polyphosphate 5-phosphatase activity IEA --
GO:0005000 vasopressin receptor activity IEA,ISS --
GO:0005515 protein binding IPI 16002321
GO:0016312 inositol bisphosphate phosphatase activity IBA,IDA 10753883
genes like me logo Genes that share ontologies with INPP5K: view
genes like me logo Genes that share phenotypes with INPP5K: view

Human Phenotype Ontology for INPP5K Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for INPP5K Gene

MGI Knock Outs for INPP5K:

Animal Model Products

  • Taconic Biosciences Mouse Models for INPP5K

CRISPR Products

miRNA for INPP5K Gene

miRTarBase miRNAs that target INPP5K

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for INPP5K Gene

Localization for INPP5K Gene

Subcellular locations from UniProtKB/Swiss-Prot for INPP5K Gene

Endoplasmic reticulum. Cytoplasm. Note=Following stimulation with EGF, translocates to membrane ruffles (PubMed:12536145, PubMed:26940976). Concentrated at the periphery of the nucleus (PubMed:10753883). {ECO:0000269 PubMed:10753883, ECO:0000269 PubMed:12536145, ECO:0000269 PubMed:26940976}.

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 INPP5K gene
Compartment Confidence
plasma membrane 5
nucleus 5
endoplasmic reticulum 5
cytosol 5
golgi apparatus 5
mitochondrion 2
cytoskeleton 1
peroxisome 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for INPP5K Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle IDA 12536145
GO:0005634 nucleus IDA 18774950
GO:0005737 cytoplasm ISS,IBA --
GO:0005783 endoplasmic reticulum IDA,IBA 12536145
GO:0005802 trans-Golgi network IDA 12556481
genes like me logo Genes that share ontologies with INPP5K: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for INPP5K Gene

Pathways & Interactions for INPP5K Gene

genes like me logo Genes that share pathways with INPP5K: view

Gene Ontology (GO) - Biological Process for INPP5K Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0001933 negative regulation of protein phosphorylation IEA,ISS --
GO:0005979 regulation of glycogen biosynthetic process IEA,ISS --
GO:0006469 negative regulation of protein kinase activity IDA 12556481
GO:0006661 phosphatidylinositol biosynthetic process TAS --
genes like me logo Genes that share ontologies with INPP5K: view

No data available for SIGNOR curated interactions for INPP5K Gene

Drugs & Compounds for INPP5K Gene

(5) Drugs for INPP5K Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
D-Myo-Inositol-1,4-Bisphosphate Experimental Pharma 0

(8) Additional Compounds for INPP5K Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Inositol 1,3,4,5-tetraphosphate
  • 1,3,4,5-Tetrakis(dihydrogen phosphate) myo-inositol
  • 1D-myo-Inositol 1,3,4,5-tetrakis(dihydrogen phosphate)
  • 1D-myo-Inositol 1,3,4,5-tetrakisphosphate
  • D-myo-Inositol 1,3,4,5-tetrakisphosphate
  • Inositol 1,3,4,5-tetrakis(phosphate)
102850-29-3
Inositol 1,3,4-trisphosphate
  • (1S,3S,4S)-1,3,4-triphospho-myo-INOSITOL
  • D-myo-Inositol 1,3,4-trisphosphate
  • Inositol 1,3,4-trisphosphoric acid
  • D-myo-Inositol 1,3,4-trisphosphoric acid
  • 1,3,4-Itp
98102-63-7
Inositol 1,4,5-trisphosphate
  • 1,4,5-Insp3
  • D-myo-Inositol 1,4,5-trisphosphate
  • D-myo-INOSITOL-1,4,5-triphosphATE
  • Ins(1,4,5)P3
  • InsP3
88269-39-0
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14066-19-4, 14265-44-2
genes like me logo Genes that share compounds with INPP5K: view

Transcripts for INPP5K Gene

mRNA/cDNA for INPP5K Gene

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

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for INPP5K Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g · 1h ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^
SP1: -
SP2: - - - - -
SP3: - - - - - -
SP4: - - -
SP5: -
SP6: -
SP7: - - - - -
SP8: - -
SP9: - -
SP10: - - - - -
SP11: - - -
SP12: - - -
SP13: - - - - - - - - - - - - - - - -
SP14: -

ExUns: 12 ^ 13 ^ 14 ^ 15
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:

Relevant External Links for INPP5K Gene

GeneLoc Exon Structure for
INPP5K

Expression for INPP5K Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for INPP5K Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for INPP5K Gene

This gene is overexpressed in Breast (20.3), Bone (16.0), and Peripheral blood mononuclear cells (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for INPP5K Gene



Protein tissue co-expression partners for INPP5K Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for INPP5K

SOURCE GeneReport for Unigene cluster for INPP5K Gene:

Hs.632238

mRNA Expression by UniProt/SwissProt for INPP5K Gene:

Q9BT40-INP5K_HUMAN
Tissue specificity: Ubiquitously expressed with highest levels in skeletal muscle, heart and kidney.

Evidence on tissue expression from TISSUES for INPP5K Gene

  • Nervous system(4.8)
  • Eye(2.5)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with INPP5K: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for INPP5K Gene

Orthologs for INPP5K Gene

This gene was present in the common ancestor of animals.

Orthologs for INPP5K Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia INPP5K 31 30
  • 99.26 (n)
OneToOne
dog
(Canis familiaris)
Mammalia INPP5K 31 30
  • 85.14 (n)
OneToOne
cow
(Bos Taurus)
Mammalia INPP5K 31 30
  • 84.39 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Inpp5k 30
  • 81.36 (n)
mouse
(Mus musculus)
Mammalia Inpp5k 17 31 30
  • 80.58 (n)
oppossum
(Monodelphis domestica)
Mammalia INPP5K 31
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia INPP5K 31
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves INPP5K 31 30
  • 62.4 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 56 (a)
OneToMany
-- 31
  • 55 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia inpp5k 30
  • 60.7 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.14338 30
zebrafish
(Danio rerio)
Actinopterygii zgc:162883 30
  • 57.32 (n)
INPP5K (1 of 2) 31
  • 44 (a)
OneToMany
inpp5k 31
  • 40 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG6805 31
  • 35 (a)
ManyToMany
CG9784 31
  • 27 (a)
ManyToMany
Species where no ortholog for INPP5K was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for INPP5K Gene

ENSEMBL:
Gene Tree for INPP5K (if available)
TreeFam:
Gene Tree for INPP5K (if available)
Aminode:
Evolutionary constrained regions (ECRs) for INPP5K: view image

Paralogs for INPP5K Gene

(2) SIMAP similar genes for INPP5K Gene using alignment to 14 proteins:

  • INP5K_HUMAN
  • B7Z4V9_HUMAN
  • C9JQW8_HUMAN
  • C9JZB0_HUMAN
  • F5GXZ0_HUMAN
  • I3L0Y0_HUMAN
  • I3L1R1_HUMAN
  • I3L2L1_HUMAN
  • I3L4A5_HUMAN
  • I3NI31_HUMAN
  • J3KN07_HUMAN
  • K7EMS8_HUMAN
  • K7ENF7_HUMAN
  • K7EPG6_HUMAN
genes like me logo Genes that share paralogs with INPP5K: view

Variants for INPP5K Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for INPP5K Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
710237 Likely Benign: not provided 1,496,690(-) C/T SYNONYMOUS_VARIANT
714853 Benign: not provided 1,513,973(-) G/A SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
715884 Likely Benign: not provided 1,513,905(-) T/C MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT
716779 Benign: not provided 1,513,864(-) A/T INTRON_VARIANT
718460 Benign: not provided 1,496,364(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for INPP5K Gene

Structural Variations from Database of Genomic Variants (DGV) for INPP5K Gene

Variant ID Type Subtype PubMed ID
dgv877e212 CNV loss 25503493
esv2715465 CNV deletion 23290073
esv2715466 CNV deletion 23290073
esv3582474 CNV loss 25503493
nsv1057782 CNV gain 25217958
nsv833334 CNV loss 17160897
nsv952098 CNV deletion 24416366

Variation tolerance for INPP5K Gene

Residual Variation Intolerance Score: 71.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.81; 34.07% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for INPP5K Gene

Human Gene Mutation Database (HGMD)
INPP5K
SNPedia medical, phenotypic, and genealogical associations of SNPs for
INPP5K

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for INPP5K Gene

Disorders for INPP5K Gene

MalaCards: The human disease database

(6) MalaCards diseases for INPP5K Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

INP5K_HUMAN
  • Muscular dystrophy, congenital, with cataracts and intellectual disability (MDCCAID) [MIM:617404]: An autosomal recessive form of muscular dystrophy with onset in early childhood and characterized by progressive muscle weakness. Almost all patients also have early-onset cataracts and intellectual disability of varying severity. Some patients have seizures. {ECO:0000269 PubMed:28190456, ECO:0000269 PubMed:28190459}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for INPP5K

genes like me logo Genes that share disorders with INPP5K: view

No data available for Genatlas for INPP5K Gene

Publications for INPP5K Gene

  1. Identification of a novel domain in two mammalian inositol-polyphosphate 5-phosphatases that mediates membrane ruffle localization. The inositol 5-phosphatase skip localizes to the endoplasmic reticulum and translocates to membrane ruffles following epidermal growth factor stimulation. (PMID: 12536145) Gurung R … Mitchell CA (The Journal of biological chemistry 2003) 2 3 4 23 54
  2. Identification and characterization of a novel inositol polyphosphate 5-phosphatase. (PMID: 10753883) Ijuin T … Takenawa T (The Journal of biological chemistry 2000) 2 3 4 23 54
  3. Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment. (PMID: 28190456) Wiessner M … Senderek J (American journal of human genetics 2017) 3 4 54
  4. Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy. (PMID: 28190459) Osborn DPS … Manzini MC (American journal of human genetics 2017) 3 4 54
  5. Glucose-regulated protein 78 (GRP78) binds directly to PIP3 phosphatase SKIP and determines its localization. (PMID: 26940976) Ijuin T … Takenawa T (Genes to cells : devoted to molecular & cellular mechanisms 2016) 3 4 54

Products for INPP5K Gene

Sources for INPP5K Gene