PITPNM2 Gene (Protein Coding)

Phosphatidylinositol Transfer Protein Membrane Associated 2

GC12M122983
GIFtS:
36
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] See more...

Aliases for PITPNM2 Gene

Aliases for PITPNM2 Gene

  • Phosphatidylinositol Transfer Protein Membrane Associated 2 2 3 5
  • NIR3 2 3 4
  • Membrane-Associated Phosphatidylinositol Transfer Protein 2 3 4
  • RDGBA2 2 3
  • NIR-3 3 4
  • RDGB2 2 3
  • Phosphatidylinositol Transfer Protein, Membrane Associated 2 2
  • Phosphatidylinositol Transfer Protein, Membrane-Associated 2 4
  • 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
  • PITPNM2 5

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 Summary 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 , Rfam classification and piRNA Summary for PITPNM2 Gene

Genomics for PITPNM2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for PITPNM2 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 PITPNM2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PITPNM2

Top Transcription factor binding sites by QIAGEN in the PITPNM2 gene promoter:
  • c-Myc
  • FOXJ2
  • FOXJ2 (long isoform)
  • Max1
  • POU2F1
  • POU2F1a
  • SRY
  • TGIF
  • USF-1
  • USF1

Genomic Locations for PITPNM2 Gene

Latest Assembly
chr12:122,983,480-123,151,090
(GRCh38/hg38)
Size:
167,611 bases
Orientation:
Minus strand

Previous Assembly
chr12:123,468,027-123,635,637
(GRCh37/hg19 by Entrez Gene)
Size:
167,611 bases
Orientation:
Minus strand

chr12:123,468,027-123,634,562
(GRCh37/hg19 by Ensembl)
Size:
166,536 bases
Orientation:
Minus strand

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 Structure • Gene Density

RefSeq DNA sequence for PITPNM2 Gene

Proteins for PITPNM2 Gene

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  • 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

Protein Expression for PITPNM2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for PITPNM2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PITPNM2 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

Protein Domains for PITPNM2 Gene

InterPro:
Blocks:
  • Phosphatidylinositol transfer protein signature
ProtoNet:

Suggested Antigen Peptide Sequences for PITPNM2 Gene

GenScript: Design optimal peptide antigens:
  • PITPNM2 protein (A5D8U3_HUMAN)
  • Pyk2 N-terminal domain-interacting receptor 3 (PITM2_HUMAN)

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

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  6. Cell Lines for research

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 IDA 10022914
GO:0005548 phospholipid transporter activity IEA --
GO:0008289 lipid binding IEA --
GO:0008525 phosphatidylcholine transporter activity IBA 21873635
GO:0008526 phosphatidylinositol transporter activity IBA,IDA 10022914
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 Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PITPNM2

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
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PITPNM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol TAS --
GO:0012505 endomembrane system IEA --
GO:0016020 membrane IEA --
GO:0044297 cell body IEA --
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:0015914 phospholipid transport IEA --
GO:0048015 phosphatidylinositol-mediated signaling IDA 10022914
GO:0120009 intermembrane lipid transfer 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

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  1. Drug products for research

(2) Drugs for PITPNM2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Dilinoleoyllecithin Experimental Pharma 0
Calcium Nutra 6876

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
CE(22:0)
  • 1-Tetradecanoyl-2-octadecanoyl-sn-glycero-3-phosphocholine
  • GPCho(14:0/18:0)
  • Phosphatidylcholine(14:0/18:0)
  • 1-Myristoyl-2-stearoylphosphatidylcholine
  • 1m-2S-PC
 61510-09-6
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)
PC(20:2(11Z,14Z)/18:1(11Z))
  • Phosphatidylcholine(20:2/18:1)
  • GPCho(20:2/18:1)
  • Phosphatidylcholine(38:3)
  • PC(38:3)
  • Lecithin
PC(22:4(7Z,10Z,13Z,16Z)/18:1(11Z))
  • PC(22:4/18:1)
  • Phosphatidylcholine(22:4/18:1)
  • Phosphatidylcholine(40:5)
  • 1-Adrenoyl-2-vaccenoyl-sn-glycero-3-phosphocholine
  • GPCho(40:5)
 2461-62-3
Phosphatidylcholines Group A
  • (R-(Z,Z))-(7-Oleoyl-4-oxido-10-oxo-3,5,9-trioxa-4-phosphaheptacos-18-enyl)trimethylammonium 4-oxide
  • 1,2-Di-(9Z-octadecenoyl)-sn-glycero-3-phosphocholine
  • 1,2-Dioleoyl-L-alpha-lecithin
  • 1-(9Z)-Octadecenoyl-2-(9Z)-octadecenoyl-sn-glycero-3-phosphocholine
  • 1-C18:1(Omega-9)-2-C18:1(omega-9)-phosphatidylcholine
 4235-95-4, 18194-24-6, 92345-33-0, 944466-40-4, 253127-60-5, 203393-41-3, 85046-19-1, 56421-10-4, 53595-24-7, 27098-24-4, 59403-51-9, 85082-02-6, 26853-31-6, 17708-90-6, 203393-39-9, 35418-59-8, 17041-44-0, 35418-58-7, 2701-19-1, 1191905-21-1, 85082-03-7, 324054-21-9, 182820-31-1
genes like me logo Genes that share compounds with PITPNM2: view

Transcripts for PITPNM2 Gene

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mRNA/cDNA for PITPNM2 Gene

11 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
8 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 PITPNM2

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

No ASD Table

Relevant External Links for PITPNM2 Gene

GeneLoc Exon Structure for
PITPNM2

Expression for PITPNM2 Gene

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  1. Primer products for research
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PITPNM2 Gene

mRNA expression in normal human tissues for PITPNM2 Gene
mRNA expression by BioGPS for PITPNM2 GenemRNA expression by GTEx 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, MaxQB, and MOPED for PITPNM2 Gene



Protein tissue co-expression partners for PITPNM2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.4)
  • Heart(4.2)
  • Liver(4.1)
  • Eye(2.1)
genes like me logo Genes that share expression patterns with PITPNM2: 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 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 30 31
  • 99.38 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia PITPNM2 30 31
  • 89.85 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia PITPNM2 30 31
  • 89.51 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Pitpnm2 30
  • 87.07 (n)
Mouse
(Mus musculus)
 Mammalia Pitpnm2 30 17 31
  • 86.86 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia PITPNM2 31
  • 78 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia PITPNM2 31
  • 75 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves PITPNM2 30 31
  • 73.33 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia PITPNM2 31
  • 71 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia pitpnm2 30
  • 70.91 (n)
Zebrafish
(Danio rerio)
 Actinopterygii LOC100333901 30
  • 66.94 (n)
PITPNM2 31
  • 56 (a)
 OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.6601 30
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP000033 30
  • 61.37 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta rdgB 30
  • 58.32 (n)
Worm
(Caenorhabditis elegans)
 Secernentea pitp-1 30
  • 51.79 (n)
Species where no ortholog for PITPNM2 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)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for PITPNM2: view image

Paralogs for PITPNM2 Gene

Paralogs for PITPNM2 Gene

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

  • PITM2_HUMAN
  • A5D8U3_HUMAN
  • E7EQC3_HUMAN
  • F5H361_HUMAN
  • F5H664_HUMAN
  • L8EB28_HUMAN
  • S4R414_HUMAN
genes like me logo Genes that share paralogs with PITPNM2: view

Variants for PITPNM2 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PITPNM2 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs17884869 - p.Pro9Leu
rs55813219 - p.Leu661Met

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PITPNM2 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 PITPNM2 Gene

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

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

SNP Genotyping and Copy Number Assays for research

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: COP and GCD

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

Additional Disease Information for PITPNM2

Genetic Association Database
(GAD)
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 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 23
  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 41
  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
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  5. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. (PMID: 28611215) Fei T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2017) 3

ExternalLinks

View latest publications for PITPNM2 gene in Mastermind

Products for PITPNM2 Gene

Sources for PITPNM2 Gene