PITPNM2 Gene
protein-coding GIFtS: 48
GCID: GC12M123468
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phosphatidylinositol transfer protein, membrane-associated...
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Aliases
for PITPNM2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
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| Phosphatidylinositol Transfer Protein, Membrane-Associated 21 2 3 | | NIR-32 3 | | NIR31 2 3 | | PITPnm 22 3 | | RDGB21 2 | | Membrane-Associated Phosphatidylinositol Transfer Protein 22 | | RDGBA21 2 | | Retinal Degeneration B Alpha 22 | | Pyk2 N-Terminal Domain-Interacting Receptor 32 3 | | KIAA14573 |
Export aliases for PITPNM2 gene to outside databasesPrevious GC identifers: GC12M123276 GC12M121905 GC12M121907 GC12M121992 GC12M120429 |
Summaries
for PITPNM2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for PITPNM2:
PITPNM2 belongs to a family of membrane-associated phosphatidylinositol transfer domain-containing proteins that sharehomology with the Drosophila retinal degeneration B (rdgB) protein (Ocaka et al., 2005 (PubMed 15627748)).(supplied byOMIM, Mar 2008)
UniProtKB/Swiss-Prot: PITM2_HUMAN, Q9BZ72Function: Catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes (in vitro). Bindscalcium ions
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Genomic Views
for PITPNM2 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000012.11 NC_018923.1 NT_009755.19
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the PITPNM2 gene promoter:
Max1 USF1 SRY POU2F1 FOXJ2 (long isoform) POU2F1a USF-1 FOXJ2 TGIF c-Myc
Other transcription factors
Search SABiosciences Chromatin IP Primers for PITPNM2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PITPNM2 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 12q24.31 Ensembl cytogenetic band: 12q24.31 HGNC cytogenetic band: 12q24.31PITPNM2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 12 GeneLoc Exon Structure GeneLoc location for GC12M123468: view genomic region
(about GC identifiers)
Start:
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123,468,027 bp from pter |
End:
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123,634,562 bp from pter |
Size:
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166,536 bases |
Orientation:
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minus strand |
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Proteins
for PITPNM2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
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UniProtKB/Swiss-Prot: PITM2_HUMAN, Q9BZ72 (See
protein sequence)Recommended Name: Membrane-associated phosphatidylinositol transfer protein 2 Size: 1349 amino acids; 148933 Da
Subunit: Interacts with PTK2B via its C-terminus
Subcellular location: Endomembrane system; Peripheral membrane protein
Sequence caution: Sequence=BAA95981.2; Type=Erroneous initiation;
Secondary accessions: Q9P271Alternative splicing: 3 isoforms: Q9BZ72-1 Q9BZ72-2 Q9BZ72-3 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for PITPNM2: NX_Q9BZ72
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9BZ72
PITPNM2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_065896.1
ENSEMBL proteins: ENSP00000280562 ENSP00000437611 ENSP00000437869 ENSP00000445399 ENSP00000322218 ENSP00000376223
Human Recombinant Protein Products for PITPNM2:
Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table
PITPNM2 for ontologies About GeneDecksing
PITPNM2 Antibody Products:
Assay Products for PITPNM2: |
Protein
Domains /
Families
for PITPNM2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
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PITPNM2 for domains About GeneDecksing
5 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9BZ72ProtoNet protein and cluster: Q9BZ72 1 Blocks protein family: IPB001666 Phosphatidylinositol transfer protein signature
UniProtKB/Swiss-Prot: PITM2_HUMAN, Q9BZ72Similarity: Belongs to the PtdIns transfer protein family. PI transfer class IIA subfamilySimilarity: Contains 1 DDHD domain |
Function
for PITPNM2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: PITM2_HUMAN, Q9BZ72Function: Catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes (in vitro). Bindscalcium ions Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table
PITPNM2 for ontologies About GeneDecksing
Phenotypes:
1 MGI mutant phenotype (inferred from 1 allele ) (MGI details for Pitpnm2):
PITPNM2 for phenotypes About GeneDecksing
Animal Models:
Mouse knock-out Pitpnm2tm1Tili for PITPNM2
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PITPNM2 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PITPNM2
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: PITPNM2 (NM_020845) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PITPNM2 |
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Pathways & Interactions
for PITPNM2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
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Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PITPNM2
STRING Interaction
Network Preview (showing 5 interactants - click image to see 10)
5/14 Interacting proteins for PITPNM2 (Q9BZ723 ENSP000003222184) via UniProtKB, MINT, STRING, and/or I2D (see all 14)About this table
Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table
PITPNM2 for ontologies About GeneDecksing
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Drugs & Compounds
for PITPNM2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for PITPNM2
10/1455 HMDB Compounds for PITPNM2 (see all 1455) About this table
Search CenterWatch for drugs/clinical trials and news about PITPNM2 / PITM2
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Transcripts
for PITPNM2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for PITPNM2 gene: NM_020845.2 Unigene Cluster for PITPNM2: Phosphatidylinositol transfer protein, membrane-associated 2 Hs.272759 [show with all ESTs]Unigene Representative Sequence: AB04089010 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000280562(uc001uek.1) ENST00000542749 ENST00000436074 ENST00000546049
ENST00000451868(uc009zxu.1) ENST00000542210 ENST00000535289 ENST00000541244
ENST00000320201(uc001uej.1) ENST00000392428
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PITPNM2 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PITPNM2
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: PITPNM2 (NM_020845) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PITPNM2 | | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat PITPNM2 |
Additional cDNA sequence: AB040890.2 AF334585.1 AK026156.1 AL133612.1 BC025360.1 BC040063.1 BC050567.1 BC141813.1 6 DOTS entries: DT.100742290 DT.439502 DT.121149386 DT.121149342 DT.121149363 DT.121149375 24/80 AceView cDNA sequences (see all 80): BM792645 BU732093 AL133612 AI207141 AI650815 AW590553 AI989918 BC050567 AI652082 BC040063 BM757394 AI611064 BC025360 AB040890 AI673017 BM703287 BU731117 BM717063 R19190 AL549956 BU541008 BQ719764 BM694502 BF353740
GeneLoc Exon Structure
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Expression
for PITPNM2 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| PITPNM2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TCTGTTACAC
About this image
See PITPNM2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PITPNM2
SOURCE GeneReport for Unigene cluster: Hs.272759
UniProtKB/Swiss-Prot: PITM2_HUMAN, Q9BZ72Tissue specificity: Highly expressed in brain, heart, ovary, testis and thymus. Detected in small intestine, prostate,pancreas, skeletal muscle, liver, colon and placenta
SABiosciences Custom PCR Arrays for PITPNM2
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PITPNM2
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PITPNM2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PITPNM2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PITPNM2 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PITPNM2 |
Orthologs
for PITPNM2 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
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This gene was present in the common ancestor of animals.
Orthologs for PITPNM2 gene from 6/21 species (see all 21) About this table
ENSEMBL Gene Tree for PITPNM2 (if available)
TreeFam Gene Tree for PITPNM2 (if available) |
Paralogs
for PITPNM2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for PITPNM2 gene
- PITPNC12 PITPNB2 PITPNM32 PITPNM12 PITPNA2
6 SIMAP similar genes for PITPNM2 using alignment to 6 protein entries: PITM2_HUMAN (see all proteins):DKFZp434P0917 PITPNM1 PITPNM3 PITPNA PITPNC1 PITPNB
PITPNM2 for paralogs About GeneDecksing
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Genomic Variants
for PITPNM2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 12 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
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HapMap Linkage Disequilibrium report for PITPNM2 (123468027 - 123634562 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for PITPNM2
3 CNVs: 48972 4790 48973
1 Indel: 101631 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PITPNM2 |
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Disorders
/ Diseases
for PITPNM2 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
PITPNM2 for disorders About GeneDecksing
OMIM gene information: 608920
OMIM disorders: --
4  diseases for PITPNM2: About MalaCardsretinal degeneration retinitis prostatitis neuronitis
1 disease from the University of Copenhagen DISEASES database for PITPNM2:Retinal degeneration Export disorders for PITPNM2 gene to outside databases
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Publications
for PITPNM2 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for PITPNM2 gene integrated from 9 sources:
(articles sorted by number of sources associating them with PITPNM2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Identification of a novel family of targets of PYK2 related to Drosophila retinal degeneration B (rdgB) protein. (PubMed id 10022914)1, 2, 3, 9 Lev S....Schlessinger J. (1999)
- 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. (PubMed id 10819331)1, 2 Nagase T.... Ohara O. (2000)
- Systematic validation of antibody binding and protein subcellular localization using siRNA and confocal microscopy. (PubMed id 22361696)2 Stadler C.... Lundberg E. (2012)
- Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women. (PubMed id 21507922)1 Ramsuran V....Ndung'u T. (2011)
- Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
- Chromosomal localization, genomic organization and evolution of the genes encoding human phosphatidylinositol transfer protein membrane- associated (PITPNM) 1, 2 and 3. (PubMed id 15627748)1 Ocaka L.... Halford S. (2005)
- Identification of targets for calcium signaling through the copine family of proteins. Characterization of a coiled-coil copine-binding motif. (PubMed id 12522145)1 Tomsig J.L....Creutz C.E. (2003)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
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External Searches for PITPNM2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
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Genome Databases showing PITPNM2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing PITPNM2 gene
(According to HUGE)
About This Section
| |
Specialized Databases showing PITPNM2 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for PITPNM2 | Pharmacogenomics, SNPs, Pathways |
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| | |
About This Section
| Patent Information for PITPNM2 gene:
Search GeneIP for patents involving PITPNM2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for PITPNM2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for PITPNM2 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PITPNM2 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PITPNM2 | | | OriGene Protein Over-expression Lysate for PITPNM2 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for PITPNM2 | | OriGene 3'-UTR Clone for PITPNM2 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PITPNM2 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PITPNM2 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for PITPNM2 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat PITPNM2 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PITPNM2 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PITPNM2 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PITPNM2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PITPNM2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PITPNM2 |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PITPNM2 |
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