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PITPNM2 phosphatidylinositol transfer protein membrane associated 2 [ Homo sapiens (human) ]

Gene ID: 57605, updated on 2-Oct-2018

Summary

Official Symbol
PITPNM2provided by HGNC
Official Full Name
phosphatidylinositol transfer protein membrane associated 2provided by HGNC
Primary source
HGNC:HGNC:21044
See related
Ensembl:ENSG00000090975 MIM:608920; Vega:OTTHUMG00000168845
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NIR3; NIR-3; RDGB2; RDGBA2
Summary
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]
Expression
Ubiquitous expression in ovary (RPKM 9.1), brain (RPKM 5.5) and 24 other tissues See more
Orthologs

Genomic context

See PITPNM2 in Genome Data Viewer
Location:
12q24.31
Exon count:
30
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (122983480..123150015, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (123468027..123635376, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATP binding cassette subfamily B member 9 Neighboring gene 2-oxoglutarate and iron dependent oxygenase domain containing 2 Neighboring gene ADP ribosylation factor like GTPase 6 interacting protein 4 Neighboring gene microRNA 4304 Neighboring gene PITPNM2 antisense RNA 1 Neighboring gene M-phase phosphoprotein 9 Neighboring gene chromosome 12 open reading frame 65 Neighboring gene cyclin dependent kinase 2 associated protein 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Phenotypes

NHGRI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA Catalog
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
NHGRI GWA Catalog
Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.
NHGRI GWA Catalog
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
NHGRI GWA Catalog

Pathways from BioSystems

  • Glycerophospholipid biosynthesis, organism-specific biosystem (from REACTOME)
    Glycerophospholipid biosynthesis, organism-specific biosystemGlycerophospholipids are important structural and functional components of biological membranes and constituents of serum lipoproteins and the pulmonary surfactant. In addition, glycerophospholipids...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Phospholipid metabolism, organism-specific biosystem (from REACTOME)
    Phospholipid metabolism, organism-specific biosystemPhospholipids contain a polar head group and two long-chain fatty acyl moieties, one of which is generally unsaturated. The head group is a glycerol or serine phosphate attached to a polar group such...
  • Synthesis of PI, organism-specific biosystem (from REACTOME)
    Synthesis of PI, organism-specific biosystemPhosphatidylinositol (PI) is synthesized when phosphatidic acid (PA) and cytidine triphosphate (CTP) are converted into cytidine diphosphate-diacylglycerol (CDP-DAG) followed by conversion into PI an...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1457

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylcholine binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylcholine transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylinositol binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylinositol transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylinositol transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol transporter activity TAS
Traceable Author Statement
more info
 
receptor tyrosine kinase binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
phosphatidylinositol biosynthetic process TAS
Traceable Author Statement
more info
 
phosphatidylinositol-mediated signaling IDA
Inferred from Direct Assay
more info
PubMed 
phospholipid transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell body IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
endomembrane system IEA
Inferred from Electronic Annotation
more info
 
membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
membrane-associated phosphatidylinositol transfer protein 2
Names
PYK2 N-terminal domain-interacting receptor 3
retinal degeneration B alpha 2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001300801.1NP_001287730.1  membrane-associated phosphatidylinositol transfer protein 2 isoform 2

    See identical proteins and their annotated locations for NP_001287730.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon and contains an alternate in-frame exon, compared to variant 1. The encoded protein (isoform 2) is shorter, compared to isoform 1.
    Source sequence(s)
    AB040890, AC026362, BC025360, H25884
    Consensus CDS
    CCDS73543.1
    UniProtKB/Swiss-Prot
    Q9BZ72
    Related
    ENSP00000280562.5, OTTHUMP00000239612, ENST00000280562.9, OTTHUMT00000401341
    Conserved Domains (3) summary
    cd08889
    Location:1258
    SRPBCC_PITPNM1-2_like; Lipid-binding SRPBCC domain of mammalian PITPNM1-2 and related proteins (Class IIA PITPs)
    smart00775
    Location:11021233
    LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins
    pfam02862
    Location:718956
    DDHD; DDHD domain
  2. NM_020845.2NP_065896.1  membrane-associated phosphatidylinositol transfer protein 2 isoform 1

    See identical proteins and their annotated locations for NP_065896.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AB040890, AL133612, BC025360, BC050567
    Consensus CDS
    CCDS9242.1
    UniProtKB/Swiss-Prot
    Q9BZ72
    UniProtKB/TrEMBL
    Q9UF51
    Related
    ENSP00000322218.4, ENST00000320201.8
    Conserved Domains (3) summary
    cd08889
    Location:1258
    SRPBCC_PITPNM1-2_like; Lipid-binding SRPBCC domain of mammalian PITPNM1-2 and related proteins (Class IIA PITPs)
    smart00775
    Location:11081239
    LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins
    pfam02862
    Location:718962
    DDHD; DDHD domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    122983480..123150015 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024449098.1XP_024304866.1  membrane-associated phosphatidylinositol transfer protein 2 isoform X1

    Conserved Domains (3) summary
    cd08889
    Location:1258
    SRPBCC_PITPNM1-2_like; Lipid-binding SRPBCC domain of mammalian PITPNM1-2 and related proteins (Class IIA PITPs)
    smart00775
    Location:11941325
    LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins
    pfam02862
    Location:7181048
    DDHD; DDHD domain
  2. XM_024449099.1XP_024304867.1  membrane-associated phosphatidylinositol transfer protein 2 isoform X1

    Conserved Domains (3) summary
    cd08889
    Location:1258
    SRPBCC_PITPNM1-2_like; Lipid-binding SRPBCC domain of mammalian PITPNM1-2 and related proteins (Class IIA PITPs)
    smart00775
    Location:11941325
    LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins
    pfam02862
    Location:7181048
    DDHD; DDHD domain
  3. XM_024449100.1XP_024304868.1  membrane-associated phosphatidylinositol transfer protein 2 isoform X2

    Conserved Domains (3) summary
    smart00775
    Location:11281259
    LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins
    pfam02862
    Location:652982
    DDHD; DDHD domain
    cl14643
    Location:1192
    SRPBCC; START/RHO_alpha_C/PITP/Bet_v1/CoxG/CalC (SRPBCC) ligand-binding domain superfamily
  4. XM_024449101.1XP_024304869.1  membrane-associated phosphatidylinositol transfer protein 2 isoform X3

    Conserved Domains (2) summary
    smart00775
    Location:810941
    LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins
    pfam02862
    Location:334664
    DDHD; DDHD domain
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