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Aliases for PITPNM2 Gene

Aliases for PITPNM2 Gene

  • Phosphatidylinositol Transfer Protein Membrane Associated 2 2 3 5
  • NIR-3 3 4
  • NIR3 3 4
  • Phosphatidylinositol Transfer Protein, Membrane Associated 2 2
  • Phosphatidylinositol Transfer Protein, Membrane-Associated 2 4
  • Membrane-Associated Phosphatidylinositol Transfer Protein 2 3
  • PYK2 N-Terminal Domain-Interacting Receptor 3 3
  • Pyk2 N-Terminal Domain-Interacting Receptor 3 4
  • Retinal Degeneration B Alpha 2 3
  • KIAA1457 4
  • PITPnm 2 4
  • RDGBA2 3
  • RDGB2 3

External Ids for PITPNM2 Gene

Previous GeneCards Identifiers for PITPNM2 Gene

  • GC12M123276
  • GC12M121905
  • GC12M121907
  • GC12M121992
  • GC12M123468
  • GC12M120429

Summaries for PITPNM2 Gene

Entrez Gene Summary for PITPNM2 Gene

  • PITPNM2 belongs to a family of membrane-associated phosphatidylinositol transfer domain-containing proteins that share homology with the Drosophila retinal degeneration B (rdgB) protein (Ocaka et al., 2005 [PubMed 15627748]).[supplied by OMIM, Mar 2008]

GeneCards Summary for PITPNM2 Gene

PITPNM2 (Phosphatidylinositol Transfer Protein Membrane Associated 2) is a Protein Coding gene. Diseases associated with PITPNM2 include Retinal Degeneration. Among its related pathways are Glycerophospholipid biosynthesis and Metabolism. Gene Ontology (GO) annotations related to this gene include calcium ion binding and lipid binding. An important paralog of this gene is PITPNM1.

UniProtKB/Swiss-Prot for PITPNM2 Gene

  • Catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes (in vitro). Binds calcium ions.

Additional gene information for PITPNM2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PITPNM2 Gene

Genomics for PITPNM2 Gene

GeneHancer (GH) Regulatory Elements for PITPNM2 Gene

Promoters and enhancers for PITPNM2 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
GH12I123104 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 583.3 +43.6 43553 5.1 PKNOX1 RAD21 ZBTB40 RARA GLIS2 ELK1 ZSCAN5C ATF7 CREM ELK4 PITPNM2 CDK2AP1 MPHOSPH9 ABCB9 C12orf65 LOC101927415 EIF2B1 ENSG00000280381 GC12P123128
GH12I123147 Promoter/Enhancer 1.7 Ensembl ENCODE dbSUPER 555.1 +1.0 1011 5 ARNT ARID4B SIN3A ZNF2 ZNF48 TCF12 ZNF766 GLIS2 GATA2 SP3 PITPNM2 CDK2AP1 MPHOSPH9 ENSG00000256092 DDX55 LOC101927415 OGFOD2 GC12P123128
GH12I123125 Enhancer 1.4 Ensembl ENCODE dbSUPER 34.8 +23.2 23151 3.3 HDGF ATF1 PKNOX1 ARNT SIN3A ZNF48 ETS1 TCF12 CBX5 ATF7 GC12P123128 PITPNM2 CDK2AP1 ENSG00000256092 RILPL1
GH12I123119 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 33.6 +29.1 29119 4.3 PKNOX1 JUNB EBF1 DPF2 BATF IRF4 ATF2 SCRT2 NBN ZNF143 PITPNM2 MPHOSPH9 SNRNP35 C12orf65 HIP1R GC12P123128 ENSG00000280381
GH12I123113 Enhancer 1.1 Ensembl ENCODE dbSUPER 33.5 +34.6 34630 6.4 ZSCAN4 EBF1 RARA YY1 ZFHX2 NFATC1 ATF7 ETV6 FOS IKZF2 PITPNM2 CDK2AP1 ENSG00000256092 RILPL1 LOC101927415 GC12P123128 ENSG00000280381
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PITPNM2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PITPNM2 gene promoter:

Genomic Locations for PITPNM2 Gene

Genomic Locations for PITPNM2 Gene
chr12:122,983,480-123,150,810
(GRCh38/hg38)
Size:
167,331 bases
Orientation:
Minus strand
chr12:123,468,027-123,634,562
(GRCh37/hg19)

Genomic View for PITPNM2 Gene

Genes around PITPNM2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PITPNM2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PITPNM2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PITPNM2 Gene

Proteins for PITPNM2 Gene

  • Protein details for PITPNM2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BZ72-PITM2_HUMAN
    Recommended name:
    Membrane-associated phosphatidylinositol transfer protein 2
    Protein Accession:
    Q9BZ72
    Secondary Accessions:
    • Q9P271

    Protein attributes for PITPNM2 Gene

    Size:
    1349 amino acids
    Molecular mass:
    148933 Da
    Quaternary structure:
    • Interacts with PTK2B via its C-terminus (PubMed:10022914). Interacts with CPNE4 (via VWFA domain) (By similarity).
    SequenceCaution:
    • Sequence=BAA95981.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for PITPNM2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PITPNM2 Gene

Post-translational modifications for PITPNM2 Gene

No Post-translational modifications

Other Protein References for PITPNM2 Gene

No data available for DME Specific Peptides for PITPNM2 Gene

Domains & Families for PITPNM2 Gene

Gene Families for PITPNM2 Gene

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

Suggested Antigen Peptide Sequences for PITPNM2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BZ72

UniProtKB/Swiss-Prot:

PITM2_HUMAN :
  • Belongs to the PtdIns transfer protein family. PI transfer class IIA subfamily.
Family:
  • Belongs to the PtdIns transfer protein family. PI transfer class IIA subfamily.
genes like me logo Genes that share domains with PITPNM2: view

Function for PITPNM2 Gene

Molecular function for PITPNM2 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes (in vitro). Binds calcium ions.

Phenotypes From GWAS Catalog for PITPNM2 Gene

Gene Ontology (GO) - Molecular Function for PITPNM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding NAS 10022914
GO:0005548 phospholipid transporter activity IEA --
GO:0008289 lipid binding IEA --
GO:0008526 phosphatidylinositol transporter activity TAS --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with PITPNM2: view
genes like me logo Genes that share phenotypes with PITPNM2: view

Animal Models for PITPNM2 Gene

MGI Knock Outs for PITPNM2:

Animal Model Products

CRISPR Products

miRNA for PITPNM2 Gene

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PITPNM2 Gene

Localization for PITPNM2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PITPNM2 Gene

Endomembrane system; Peripheral membrane protein.

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 PITPNM2 gene
Compartment Confidence
cytosol 5
plasma membrane 3

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PITPNM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005829 cytosol TAS --
GO:0012505 endomembrane system IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane NAS 10022914
genes like me logo Genes that share ontologies with PITPNM2: view

Pathways & Interactions for PITPNM2 Gene

genes like me logo Genes that share pathways with PITPNM2: view

Pathways by source for PITPNM2 Gene

Gene Ontology (GO) - Biological Process for PITPNM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0008152 metabolic process NAS 10022914
GO:0015914 phospholipid transport IEA --
genes like me logo Genes that share ontologies with PITPNM2: view

No data available for SIGNOR curated interactions for PITPNM2 Gene

Drugs & Compounds for PITPNM2 Gene

(1) Drugs for PITPNM2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0

(382) Additional Compounds for PITPNM2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
PC(18:1(9Z)e/2:0)
  • (2-acetyloxy-3-octadec-9-enoxypropyl) 2-trimethylazaniumylethyl phosphate
  • 2-Acetyl-1-(9Z-octadecenyl)-sn-glycero-3-phosphocholine
  • PC(O-18:1(9Z)/2:0)
Phosphatidylcholines Group A
  • (Z,Z)-(1)-(7-Oleoyl-4-oxido-10-oxo-3,5,9-trioxa-4-phosphaheptacos-18-enyl)trimethylammonium 4-oxide
  • (Z,Z)-4-hydroxy-N,N,N-trimethyl-10-oxo-7-[(1-oxo-9-octadecenyl)oxy]-3,5,9-Trioxa-4-phosphaheptacos-18-en-1-aminium 4-oxide hydroxide inner salt
  • 1,2-Dioleoyl-rac-glycero-3-phosphocholine
  • 1,2-Dioleoylglycerol-3-phosphorylcholine
  • 1,2-Dioleoylglyceryl-3-phosphorylcholine
68737-67-7
Phosphatidylcholines Group B
  • 1-(1-Enyl-palmitoyl)-2-eicosenoyl-sn-glycero-3-phosphocholine
  • GPCho(16:0/20:1)
  • GPCho(16:0/20:1n9)
  • GPCho(16:0/20:1w9)
  • GPCho(36:1)
88542-95-4
Phosphatidylinositol-3,4,5-trisphosphate
  • 1,2-Diacyl-sn-glycero-3-phospho-(1'-myo-inositol-3',4',5'-bisphosphate)
  • 1-Phosphatidyl-1D-myo-inositol 3,4,5-trisphosphate
  • Phosphatidylinositol-3,4,5-trisphosphate
PI(16:0/16:0)
  • 1,2-Dihexadecanoyl-rac-glycero-3-phospho-(1'-myo-inositol)
  • 1,2-Dipalmitoyl-rac-glycero-3-phosphoinositol
  • Phosphatidylinositol(16:0/16:0)
  • Phosphatidylinositol(32:0)
  • PI(16:0/16:0)
genes like me logo Genes that share compounds with PITPNM2: view

Transcripts for PITPNM2 Gene

Unigene Clusters for PITPNM2 Gene

Phosphatidylinositol transfer protein, membrane-associated 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PITPNM2 Gene

No ASD Table

Relevant External Links for PITPNM2 Gene

GeneLoc Exon Structure for
PITPNM2
ECgene alternative splicing isoforms for
PITPNM2

Expression for PITPNM2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PITPNM2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PITPNM2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (34.7), Retina (14.7), and Pancreatic juice (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PITPNM2 Gene



Protein tissue co-expression partners for PITPNM2 Gene

NURSA nuclear receptor signaling pathways regulating expression of PITPNM2 Gene:

PITPNM2

SOURCE GeneReport for Unigene cluster for PITPNM2 Gene:

Hs.272759

mRNA Expression by UniProt/SwissProt for PITPNM2 Gene:

Q9BZ72-PITM2_HUMAN
Tissue specificity: Highly expressed in brain, heart, ovary, testis and thymus. Detected in small intestine, prostate, pancreas, skeletal muscle, liver, colon and placenta.

Evidence on tissue expression from TISSUES for PITPNM2 Gene

  • Nervous system(4.3)
  • Heart(4.1)
  • Liver(4.1)
  • Eye(2)
genes like me logo Genes that share expression patterns with PITPNM2: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PITPNM2 Gene

Orthologs for PITPNM2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PITPNM2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PITPNM2 33 34
  • 99.38 (n)
cow
(Bos Taurus)
Mammalia PITPNM2 33 34
  • 89.85 (n)
dog
(Canis familiaris)
Mammalia PITPNM2 33 34
  • 89.51 (n)
rat
(Rattus norvegicus)
Mammalia Pitpnm2 33
  • 87.07 (n)
mouse
(Mus musculus)
Mammalia Pitpnm2 33 16 34
  • 86.86 (n)
oppossum
(Monodelphis domestica)
Mammalia PITPNM2 34
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PITPNM2 34
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves PITPNM2 33 34
  • 73.33 (n)
lizard
(Anolis carolinensis)
Reptilia PITPNM2 34
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pitpnm2 33
  • 70.91 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100333901 33
  • 66.94 (n)
PITPNM2 34
  • 56 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6601 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000033 33
  • 61.37 (n)
fruit fly
(Drosophila melanogaster)
Insecta rdgB 33
  • 58.32 (n)
worm
(Caenorhabditis elegans)
Secernentea pitp-1 33
  • 51.79 (n)
Species where no ortholog for PITPNM2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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)

Evolution for PITPNM2 Gene

ENSEMBL:
Gene Tree for PITPNM2 (if available)
TreeFam:
Gene Tree for PITPNM2 (if available)

Paralogs for PITPNM2 Gene

Paralogs for PITPNM2 Gene

(6) SIMAP similar genes for PITPNM2 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with PITPNM2: view

Variants for PITPNM2 Gene

Sequence variations from dbSNP and Humsavar for PITPNM2 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000036548 -- 123,099,208(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000068353 -- 123,042,144(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000096373 -- 122,998,009(-) T/G intron_variant
rs1000101475 -- 123,099,470(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000103074 -- 123,033,170(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PITPNM2 Gene

Variant ID Type Subtype PubMed ID
nsv914 CNV insertion 18451855
nsv560494 CNV loss 21841781
nsv560493 CNV loss 21841781
nsv560492 CNV loss 21841781
nsv517200 CNV loss 19592680
nsv476743 CNV novel sequence insertion 20440878
nsv455732 CNV loss 19166990
esv2646329 CNV deletion 19546169
dgv22n68 CNV loss 17160897

Variation tolerance for PITPNM2 Gene

Residual Variation Intolerance Score: 6.99% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.43; 71.38% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PITPNM2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PITPNM2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PITPNM2 Gene

Disorders for PITPNM2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PITPNM2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
retinal degeneration
  • degeneration of retina
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PITPNM2

genes like me logo Genes that share disorders with PITPNM2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PITPNM2 Gene

Publications for PITPNM2 Gene

  1. Identification of a novel family of targets of PYK2 related to Drosophila retinal degeneration B (rdgB) protein. (PMID: 10022914) Lev S … Schlessinger J (Molecular and cellular biology 1999) 2 3 4 22 58
  2. Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women. (PMID: 21507922) Ramsuran V … Ndung'u T (Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2011) 3 44 58
  3. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10819331) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. Whole-exome sequencing of individuals from an isolated population implicates rare risk variants in bipolar disorder. (PMID: 28195573) Lescai F … Børglum AD (Translational psychiatry 2017) 3 58

Products for PITPNM2 Gene

Sources for PITPNM2 Gene

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