1. Gene
  2. PITPNM2 - phosphatidylinositol transfer protein membrane associated 2 Gene

PITPNM2 - phosphatidylinositol transfer protein membrane associated 2 Gene

Homo sapiens

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

Gene ID: 57605 | Gene type: protein coding

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

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)

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  • 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

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