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Aliases for PITPNM2 Gene

Aliases for PITPNM2 Gene

  • Phosphatidylinositol Transfer Protein Membrane Associated 2 2 3
  • Phosphatidylinositol Transfer Protein, Membrane Associated 2 2 3 5
  • Phosphatidylinositol Transfer Protein, Membrane-Associated 2 3 4
  • NIR-3 3 4
  • NIR3 3 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
  • 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. GO annotations related to this gene include calcium ion binding and lipid binding. An important paralog of this gene is PITPNC1.

UniProtKB/Swiss-Prot for PITPNM2 Gene

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

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

Genomics for PITPNM2 Gene

Regulatory Elements for PITPNM2 Gene

Promoters for PITPNM2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PITPNM2 on UCSC Golden Path with GeneCards custom track

Genomic Location for PITPNM2 Gene

Chromosome:
12
Start:
122,983,480 bp from pter
End:
123,150,810 bp from pter
Size:
167,331 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 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

Proteomics data for PITPNM2 Gene at MOPED

Post-translational modifications for PITPNM2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

Suggested Antigen Peptide Sequences for PITPNM2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BZ72

UniProtKB/Swiss-Prot:

PITM2_HUMAN :
  • Contains 1 DDHD domain.
  • Belongs to the PtdIns transfer protein family. PI transfer class IIA subfamily.
Domain:
  • Contains 1 DDHD domain.
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.

Gene Ontology (GO) - Molecular Function for PITPNM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein 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

In Situ Assay Products

Flow Cytometry 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
Jensen Localization Image for PITPNM2 Gene COMPARTMENTS Subcellular localization image for PITPNM2 gene
Compartment Confidence
cytosol 3
plasma membrane 3

Gene Ontology (GO) - Cellular Components for PITPNM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane NAS 10022914
genes like me logo Genes that share ontologies with PITPNM2: view

Pathways & Interactions for PITPNM2 Gene

SuperPathways for PITPNM2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PITPNM2 Gene

None

No data available for Pathways by source and 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 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
  • (R)-4-hydroxy-N,N,N-trimethyl-10-oxo-7-[(1-oxohexadecyl)oxy]-3,5,9-Trioxa-4-phosphapentacosan-1-aminium 4-oxide hydroxide inner salt
  • (R)-4-hydroxy-N,N,N-trimethyl-10-oxo-7-[(1-oxohexadecyl)oxy]-3,5,9-Trioxa-4-phosphapentacosan-1-aminium 4-oxide inner salt
  • 1,2-Bis(hexadecanoyl)-sn-glycero-3-phosphocholine
  • 1,2-Bis(palmitoyl)-sn-glycero-3-phosphocholine
  • 1,2-Dihexadecanoyl-sn-glycerol-3-phosphorylcholine
63-89-8, 68737-67-7
Phosphatidylcholines Group B
  • 1-(1-Enyl-palmitoyl)-2-stearidonoyl-sn-glycero-3-phosphocholine
  • GPCho(16:0/18:4)
  • GPCho(16:0/18:4n3)
  • GPCho(16:0/18:4w3)
  • GPCho(34:4)
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:

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 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, MOPED, and MaxQB for PITPNM2 Gene



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.
genes like me logo Genes that share expression patterns with PITPNM2: view

Protein tissue co-expression partners for PITPNM2 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia PITPNM2 35
  • 89.85 (n)
  • 92.86 (a)
PITPNM2 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PITPNM2 35
  • 89.51 (n)
  • 93.16 (a)
PITPNM2 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pitpnm2 35
  • 86.86 (n)
  • 90.79 (a)
Pitpnm2 16
Pitpnm2 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PITPNM2 35
  • 99.38 (n)
  • 99.48 (a)
PITPNM2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pitpnm2 35
  • 87.07 (n)
  • 90.94 (a)
oppossum
(Monodelphis domestica)
Mammalia PITPNM2 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PITPNM2 36
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves PITPNM2 35
  • 73.33 (n)
  • 79.77 (a)
PITPNM2 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PITPNM2 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pitpnm2 35
  • 70.91 (n)
  • 79.62 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100333901 35
  • 66.94 (n)
  • 64.5 (a)
PITPNM2 36
  • 56 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6601 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000033 35
  • 61.37 (n)
  • 54.21 (a)
fruit fly
(Drosophila melanogaster)
Insecta rdgB 35
  • 58.32 (n)
  • 53.23 (a)
worm
(Caenorhabditis elegans)
Secernentea pitp-1 35
  • 51.79 (n)
  • 48.02 (a)
Species with no ortholog for PITPNM2:
  • 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 Sequence Context AA Info Type
rs17884869 - 123,034,565(+) GCAGA(A/G)GAATC intron-variant, reference, missense, utr-variant-5-prime
rs55813219 - 122,995,462(+) GGGCA(G/T)TTGCC reference, missense
rs478670 -- 123,076,837(-) TTAGC(A/C)CCCAG intron-variant, upstream-variant-2KB
rs484200 -- 123,066,415(-) GGCTC(A/G)TGAGT intron-variant
rs585522 -- 123,066,266(-) CCCCT(C/T)GCTCG intron-variant

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

Variant ID Type Subtype PubMed ID
dgv1497n71 CNV Loss 21882294
nsv517200 CNV Loss 19592680
dgv22n68 CNV Loss 17160897
nsv455732 CNV Loss 19166990
nsv899577 CNV Loss 21882294
nsv899578 CNV Loss 21882294
nsv914 CNV Insertion 18451855
esv2646329 CNV Deletion 19546169

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)

Relevant External Links for PITPNM2 Gene

HapMap Linkage Disequilibrium report
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

Relevant External Links for PITPNM2

Genetic Association Database (GAD)
PITPNM2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (Mol. Cell. Biol. 1999) 2 3 4 23 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. Biological insights from 108 schizophrenia-associated genetic loci. (PMID: 25056061) (Nature 2014) 3
  4. Common genetic variants associated with cognitive performance identified using the proxy-phenotype method. (PMID: 25201988) Rietveld C.A. … Koellinger P.D. (Proc. Natl. Acad. Sci. U.S.A. 2014) 3
  5. Genome-wide association analysis identifies 13 new risk loci for schizophrenia. (PMID: 23974872) Ripke S. … Sullivan P.F. (Nat. Genet. 2013) 3

Products for PITPNM2 Gene

Sources for PITPNM2 Gene

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