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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
  • EC 3.1.3.56 4 56
  • SKIP 3 4
  • PPS 3 4
  • Skeletal Muscle And Kidney Enriched Inositol Phosphatase 2
  • Inositol Polyphosphate 5-Phosphatase K 3
  • EC 3.1.3 56
  • 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 Metabolism and Inositol phosphate metabolism (KEGG). 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 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. 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 , fRNAdb sequence ontologies and piRNA Summary for INPP5K Gene

Genomics for INPP5K Gene

GeneHancer (GH) Regulatory Elements for INPP5K Gene

Promoters and enhancers for INPP5K 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
GH17I001515 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 560.3 -0.4 -403 4.4 HDGF PKNOX1 SMAD1 ZFP64 ARID4B SIN3A ZNF2 YY1 SLC30A9 POLR2B INPP5K PITPNA-AS1 GC17M001526 PIR60547 PITPNA GEMIN4 WDR81 PRPF8 HIC1 SMYD4
GH17I001554 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 19.2 -39.9 -39879 3.7 MAX BATF IRF4 ZNF316 ZBTB48 POLR2A PRDM10 ETV6 MAFK IKZF2 PITPNA INPP5K PITPNA-AS1 YWHAE SLC43A2 SCARF1 CRK WDR81 PIR42053 GC17M001550
GH17I001484 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.8 +28.2 28232 9.2 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF213 MYO1C PITPNA PRPF8 WDR81 SMYD4 GEMIN4 DPH1 YWHAE ENSG00000262228 INPP5K
GH17I001106 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.1 +407.0 407011 6 ARID4B SIN3A FEZF1 ZNF2 ZNF121 GLIS2 KLF7 FOS SP3 MXD4 ABR WDR81 PRPF8 GEMIN4 SMYD4 ENSG00000235361 ENSG00000262228 INPP5K RPA1 GLOD4
GH17I001253 Promoter/Enhancer 1.2 Ensembl ENCODE 10.4 +263.0 263044 0.7 BCOR HDAC1 MEIS2 CHD4 SIN3A ZBTB40 CTBP1 MTA3 POLR2A HSF1 GC17M001250 ENSG00000262213 TUSC5 ABR ENSG00000235361 YWHAE MYO1C INPP5K SLC43A2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around INPP5K on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the INPP5K gene promoter:

Genomic Locations for INPP5K Gene

Genomic Locations for INPP5K Gene
chr17:1,494,571-1,516,888
(GRCh38/hg38)
Size:
22,318 bases
Orientation:
Minus strand
chr17:1,397,865-1,420,182
(GRCh37/hg19)

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

No Post-translational modifications

Domains & Families for INPP5K Gene

Gene Families for INPP5K Gene

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

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 CatalyticActivity:
D-myo-inositol 1,4,5-trisphosphate + H(2)O = myo-inositol 1,4-bisphosphate + phosphate.
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. 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).

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 TAS --
GO:0004445 inositol-polyphosphate 5-phosphatase activity IEA --
GO:0005000 vasopressin receptor activity ISS --
GO:0005515 protein binding IPI 16002321
GO:0016312 inositol bisphosphate phosphatase activity 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

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. Note=Following stimulation with EGF, translocates to membrane ruffles. {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

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 --
GO:0005783 endoplasmic reticulum IDA,IEA 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 ISS --
GO:0005979 regulation of glycogen biosynthetic process 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

(6) 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

(7) 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
  • 1,3,4-Itp
  • 1D-Myo-Inositol 1,3,4-trisphosphate
  • D-Myo-Inositol 1,3,4-trisphosphate
  • I3S
  • Inositol 1,3,4-triphosphate
98102-63-7
Inositol 1,4,5-trisphosphate
  • 1D-Myo-Inositol 1,4,5-trisphosphate
  • D-Myo-Inositol 1,4,5-trisphosphate
  • Inositol 1,4,5-trisphosphate
88269-39-0
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
genes like me logo Genes that share compounds with INPP5K: view

Transcripts for INPP5K Gene

Unigene Clusters for INPP5K Gene

Inositol polyphosphate-5-phosphatase K:
Representative Sequences:

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
ECgene alternative splicing isoforms for
INPP5K

Expression for INPP5K Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for INPP5K Gene



Protein tissue co-expression partners for INPP5K Gene

NURSA nuclear receptor signaling pathways regulating expression of INPP5K Gene:

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 33 34
  • 99.26 (n)
dog
(Canis familiaris)
Mammalia INPP5K 33 34
  • 85.14 (n)
cow
(Bos Taurus)
Mammalia INPP5K 33 34
  • 84.39 (n)
rat
(Rattus norvegicus)
Mammalia Inpp5k 33
  • 81.36 (n)
mouse
(Mus musculus)
Mammalia Inpp5k 33 16 34
  • 80.58 (n)
oppossum
(Monodelphis domestica)
Mammalia INPP5K 34
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia INPP5K 34
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves INPP5K 33 34
  • 62.4 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 56 (a)
OneToMany
-- 34
  • 55 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia inpp5k 33
  • 60.7 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.14338 33
zebrafish
(Danio rerio)
Actinopterygii zgc:162883 33
  • 57.32 (n)
INPP5K (1 of 2) 34
  • 44 (a)
OneToMany
inpp5k 34
  • 40 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG6805 34
  • 35 (a)
ManyToMany
CG9784 34
  • 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)

Paralogs for INPP5K Gene

Paralogs for INPP5K Gene

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

Variants for INPP5K Gene

Sequence variations from dbSNP and Humsavar for INPP5K Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1060505038 pathogenic, Muscular dystrophy, congenital, with cataracts and intellectual disability 1,513,875(-) A/G 5_prime_UTR_variant, coding_sequence_variant, missense_variant
rs1060505039 pathogenic, Muscular dystrophy, congenital, with cataracts and intellectual disability 1,509,784(-) T/C 5_prime_UTR_variant, coding_sequence_variant, initiator_codon_variant, missense_variant
rs1060505040 pathogenic, Muscular dystrophy, congenital, with cataracts and intellectual disability 1,496,098(-) TGT/T coding_sequence_variant, frameshift
rs749383757 pathogenic, Muscular dystrophy, congenital, with cataracts and intellectual disability, Muscular dystrophy, congenital, with cataracts and intellectual disability (MDCCAID) [MIM:617404] 1,509,314(-) C/T coding_sequence_variant, initiator_codon_variant, missense_variant
rs750781027 pathogenic, Muscular dystrophy, congenital, with cataracts and intellectual disability, Muscular dystrophy, congenital, with cataracts and intellectual disability (MDCCAID) [MIM:617404] 1,513,957(-) C/A/T 5_prime_UTR_variant, coding_sequence_variant, missense_variant

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

(3) MalaCards diseases for INPP5K Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, 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 22 58
  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 22 58
  3. 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 58
  4. 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 58
  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 58

Products for INPP5K Gene

Sources for INPP5K Gene

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