PITPNM2 - phosphatidylinositol transfer protein membrane associated 2 Gene

Also Known as NIR3; NIR-3; RDGB2; RDGBA2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 57605

About PITPNM2

Cytogenetic location: 12q24.31 Genomic coordinates (GRCh38): 12:122,983,480-123,151,848 (from NCBI)

This gene has 8 transcripts (splice variants), 266 orthologues and 5 paralogues. Ubiquitous expression in ovary (RPKM 9.1), brain (RPKM 5.5) and 24 other tissues.

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]

PITPNM2 Products (11)

mRNA Protein Name
NM_001300801.2 NP_001287730.1 membrane-associated phosphatidylinositol transfer protein 2 isoform 2
NM_001384660.1 NP_001371589.1 membrane-associated phosphatidylinositol transfer protein 2 isoform 3
NM_001384661.1 NP_001371590.1 membrane-associated phosphatidylinositol transfer protein 2 isoform 4
NM_001384662.1 NP_001371591.1 membrane-associated phosphatidylinositol transfer protein 2 isoform 6
NM_001384663.1 NP_001371592.1 membrane-associated phosphatidylinositol transfer protein 2 isoform 4
NM_001384664.1 NP_001371593.1 membrane-associated phosphatidylinositol transfer protein 2 isoform 7
NM_001384665.1 NP_001371594.1 membrane-associated phosphatidylinositol transfer protein 2 isoform 8
NM_001384666.1 NP_001371595.1 membrane-associated phosphatidylinositol transfer protein 2 isoform 8
NM_001384667.1 NP_001371596.1 membrane-associated phosphatidylinositol transfer protein 2 isoform 8
NM_001384668.1 NP_001371597.1 membrane-associated phosphatidylinositol transfer protein 2 isoform 2
NM_020845.3 NP_065896.1 membrane-associated phosphatidylinositol transfer protein 2 isoform 1

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
enables calcium ion binding IDA
IDA: Inferred from direct assay
10022914 GOA
enables phosphatidylinositol transfer activity IDA
IDA: Inferred from direct assay
10022914 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
10022914 GOA
enables receptor tyrosine kinase binding IMP
IMP: Inferred from mutant phenotype
10022914 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PITPNM2 Protein Structure

IP_trans

IP_trans: Phosphatidylinositol transfer protein (1 - 253)

DDHD

DDHD: DDHD domain (715 - 963)

LNS2

LNS2: LNS2 (Lipin/Ned1/Smp2) (1108 - 1238)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1349 a.a.
Protein Preferred Names Protein Names

membrane-associated phosphatidylinositol transfer protein 2

  • PYK2 N-terminal domain-interacting receptor 3

Related Diseases

Diseases Alias
Retinal Degeneration

  • Degeneration Of Retina
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS10578 PITPNM2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta PITPNM2 VGNC VGNC:75843
Rattus norvegicus PITPNM2 RGD RGD:1310867
Felis catus PITPNM2 VGNC VGNC:64188
Canis familiaris PITPNM2 VGNC VGNC:44587
Mus musculus PITPNM2 MGD MGI:1336192
Bos taurus PITPNM2 VGNC VGNC:32922
Others PITPNM2 NCBI