Aliases for INPP5K Gene
Aliases for INPP5K Gene
External Ids for INPP5K Gene
- HGNC: 33882
- Entrez Gene: 51763
- Ensembl: ENSG00000132376
- OMIM: 607875
- UniProtKB: Q9BT40
Previous GeneCards Identifiers for INPP5K Gene
- GC17M001345
- GC17M001397
Summaries 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 Regulation of lipid metabolism Insulin signaling-generic cascades and Metabolism. 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).
Additional gene information for INPP5K Gene
- Monarch Initiative
- Search for INPP5K at DataMed
- Search for INPP5K at HumanCyc
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
- 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
- Top Transcription factor binding sites by QIAGEN in the INPP5K gene promoter:
-
- Meis-1a
- ATF
- RORalpha2
- FOXC1
- Pax-4a
- HOXA9
- HOXA9B
- Meis-1
- E47
- MIF-1
Regulatory Element Products
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)
- 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:
-
- 17p13.3 by Entrez Gene
- 17p13.3 by HGNC
- 17p13.3 by Ensembl
INPP5K Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression for INPP5K Gene
Post-translational modifications for INPP5K Gene
Other Protein References for INPP5K Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for INPP5K
- Novus Biologicals Antibodies for INPP5K
-
Abcam antibodies for INPP5K
- Invitrogen Antibodies for INPP5K (AFLGC-INPP5K)
- GeneTex INPP5K Antibody for INPP5K
-
Boster Bio Antibodies for INPP5K
-
Santa Cruz Biotechnology (SCBT) Antibodies for INPP5K
Protein Products
-
OriGene Purified Proteins for INPP5K
- Search Origene for MassSpec and Protein Over-expression Lysates for INPP5K
- Origene Custom Protein Services for INPP5K
- Search GeneTex for Proteins for INPP5K
-
Abcam proteins for INPP5K
Assay Products
No data available for DME Specific Peptides for INPP5K Gene
Domains & Families for INPP5K Gene
Gene Families for INPP5K Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Enzymes
- Predicted intracellular proteins
Protein Domains for INPP5K Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for INPP5K Gene
Graphical View of Domain Structure for InterPro Entry
Q9BT40UniProtKB/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.
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. 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:
- D-myo-inositol 1,4,5-trisphosphate + H(2)O = myo-inositol 1,4-bisphosphate + phosphate.
Enzyme Numbers (IUBMB) for INPP5K Gene
Phenotypes From GWAS Catalog 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 |
Phenotypes for INPP5K Gene
- MGI mutant phenotypes for INPP5K:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for INPP5K:
Animal Models for INPP5K Gene
- MGI Knock Outs for INPP5K:
-
- Inpp5k Inpp5k<tm1Brd>
Animal Model Products
-
Taconic Biosciences Mouse Models for INPP5K
- Cyagen custom Knockout/knockin (KOKI) mouse models for INPP5K
-
CRISPR Products
-
OriGene CRISPR knockouts for INPP5K
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for INPP5K
- genomics-online: gRNA clones - Search results for 131 available INPP5K gene related products
- Overview of 131 available INPP5K gene related products
- Applied Biological Materials CRISPR for INPP5K
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for INPP5K
- GenScript: Design CRISPR guide RNA sequences for INPP5K
miRNA for INPP5K Gene
- miRTarBase miRNAs that target INPP5K
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for INPP5K
- Browse OriGene Inhibitory RNA Products For INPP5K
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for INPP5K
- genomics-online: shRNA clones - Search results for 131 available INPP5K gene related products
- Overview of 131 available INPP5K gene related products
Clone Products
-
OriGene ORF clones in human for INPP5K
- RC200092
- RC200092L1
- RC200092L2
- RC200092L3
- RC200092L4
- RC212090
- RC212090L1
- RC212090L2
- RC212090L3
- RC212090L4
- RC227852
- RC227852L1
- RC227852L2
- RC227852L3
- RC227852L4
- RC500092
- RG200092
- RG212090
- RG227852
- RC200092L1V
- RC200092L2V
- RC200092L3V
- RC200092L4V
- RC212090L1V
- RC212090L2V
- RC212090L3V
- RC212090L4V
- RC227852L1V
- RC227852L2V
- RC227852L3V
- RC227852L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for INPP5K
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for INPP5K
- Applied Biological Materials Clones for INPP5K
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for INPP5K
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}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| nucleus | 5 |
| endoplasmic reticulum | 5 |
| cytosol | 5 |
| golgi apparatus | 5 |
| mitochondrion | 2 |
| 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 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for INPP5K Gene
Pathways & Interactions for INPP5K Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | superpathway of inositol phosphate compounds | ||
| 2 | Metabolism |
.37
|
|
| 3 | PI Metabolism |
.63
|
|
| 4 | Regulation of lipid metabolism Insulin signaling-generic cascades | ||
| 5 | Glycerophospholipid biosynthesis | ||
Pathways by source for INPP5K Gene
7 BioSystems pathways for INPP5K Gene
5 Reactome pathways for INPP5K Gene
4 KEGG pathways for INPP5K Gene
Interacting Proteins for INPP5K Gene
Selected Interacting proteins:
Q9BT40-INP5K_HUMAN
ENSP00000413937
for INPP5K Gene via
MINT
STRING
UniProtKB
IID
GPS-Prot Interaction Network for INPP5K
| 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 | -- |
No data available for SIGNOR curated interactions for INPP5K Gene
Drugs & Compounds for INPP5K Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Inositol 1,3,4,5-tetraphosphate |
|
102850-29-3 |
|
|||
| Inositol 1,3,4-trisphosphate |
|
98102-63-7 |
|
|||
| Inositol 1,4,5-trisphosphate |
|
88269-39-0 |
|
|||
| Phosphate |
|
14265-44-2 |
|
Drug Products
Transcripts for INPP5K Gene
mRNA/cDNA for INPP5K Gene
- (13) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (280) Selected AceView cDNA sequences:
- (20) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000421807 2988 bps (uc002fsr.4)
- ENST00000406424 3194 bps (uc002fss.4)
- ENST00000320345 2880 bps (uc002fsq.4)
- ENST00000350761 1505 bps (uc059zfq.1)
- ENST00000487039 482 bps (uc059zfr.1)
Unigene Clusters for INPP5K Gene
- Inositol polyphosphate-5-phosphatase K:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for INPP5K
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for INPP5K
- genomics-online: gRNA clones - Search results for 131 available INPP5K gene related products
- Overview of 131 available INPP5K gene related products
- Applied Biological Materials CRISPR for INPP5K
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for INPP5K
- GenScript: Design CRISPR guide RNA sequences for INPP5K
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for INPP5K
- Browse OriGene Inhibitory RNA Products For INPP5K
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for INPP5K
- genomics-online: shRNA clones - Search results for 131 available INPP5K gene related products
- Overview of 131 available INPP5K gene related products
Clone Products
-
OriGene ORF clones in human for INPP5K
- RC200092
- RC200092L1
- RC200092L2
- RC200092L3
- RC200092L4
- RC212090
- RC212090L1
- RC212090L2
- RC212090L3
- RC212090L4
- RC227852
- RC227852L1
- RC227852L2
- RC227852L3
- RC227852L4
- RC500092
- RG200092
- RG212090
- RG227852
- RC200092L1V
- RC200092L2V
- RC200092L3V
- RC200092L4V
- RC212090L1V
- RC212090L2V
- RC212090L3V
- RC212090L4V
- RC227852L1V
- RC227852L2V
- RC227852L3V
- RC227852L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for INPP5K
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for INPP5K
- Applied Biological Materials Clones for INPP5K
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: |
Expression for INPP5K Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Hair (Integumentary System)
- Fetal Matrix Cells Hair Follicle
-
Epithelial Cells
- Fetal Matrix Cells Hair Follicle
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
NURSA nuclear receptor signaling pathways regulating expression of INPP5K Gene:
INPP5KSOURCE GeneReport for Unigene cluster for INPP5K Gene:
Hs.632238mRNA 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)
Primer Products
-
OriGene qPCR primer pairs for INPP5K
-
OriGene qPCR primer pairs and template standards for INPP5K
- genomics-online: primer clones - Search results for 131 available INPP5K gene related products
- Overview of 131 available INPP5K gene related products
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | INPP5K 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | INPP5K 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | INPP5K 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Inpp5k 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Inpp5k 16 34 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | INPP5K 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | INPP5K 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | INPP5K 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | inpp5k 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.14338 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | zgc:162883 33 |
|
||
| INPP5K (1 of 2) 34 |
|
OneToMany | |||
| inpp5k 34 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | CG6805 34 |
|
ManyToMany | |
| CG9784 34 |
|
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
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
Variants 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 |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for INPP5K Gene
Disorders for INPP5K Gene
(3) MalaCards diseases for INPP5K Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| muscular dystrophy, congenital, with cataracts and intellectual disability |
|
|
| marinesco-sjogren syndrome |
|
|
| muscular dystrophy |
|
|
Search INPP5K in MalaCards
View complete list of genes associated with diseases
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
No data available for Genatlas for INPP5K Gene
Publications for INPP5K Gene
- 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
- 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
- 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
- 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
- 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
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