Pitpnm2 phosphatidylinositol transfer protein, membrane-associated 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pitpnm2provided by MGI
Official Full Name: phosphatidylinositol transfer protein, membrane-associated 2provided by MGI
Primary source: MGI:MGI:1336192
See related: Ensembl:ENSMUSG00000029406 AllianceGenome:MGI:1336192
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: NIR3; Rdgb2; RDGBA2; mKIAA1457
Summary: Predicted to enable several functions, including phospholipid binding activity; phospholipid transporter activity; and receptor tyrosine kinase binding activity. Predicted to be involved in intermembrane lipid transfer and phospholipid transport. Predicted to be located in cell body. Predicted to be active in cytoplasm. Is expressed in central nervous system and retina. Orthologous to human PITPNM2 (phosphatidylinositol transfer protein membrane associated 2). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in thymus adult (RPKM 44.3), adrenal adult (RPKM 32.8) and 25 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 F; 5 63.39 cM

Exon count:: 32

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (124256753..124387973, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (124118689..124249910, complement)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

the VAP-interacting membrane-associated phosphatidylinositol (PtdIns) transfer proteins PYK2 N-terminal domain-interacting receptor 2 (Nir2) and Nir3 specifically associate with Kv2.1 complexes.
Title: Neuronal ER-plasma membrane junctions organized by Kv2-VAP pairing recruit Nir proteins and affect phosphoinositide homeostasis.
Here we found that under high light intensities, RdgB2(-/-) mutant mice showed normal pupillary light responses and circadian photoentrainment
Title: RdgB2 is required for dim-light input into intrinsically photosensitive retinal ganglion cells.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1) 1 citation
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

REN91998 (e-PCR)
- UniSTS:416796

RH131340 (e-PCR)
- UniSTS:214623

Rdgb2 (e-PCR), detects polymorphism
- UniSTS:144335

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables calcium ion binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylcholine binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylcholine transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol transfer activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol transfer activity	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol transfer activity	ISO Inferred from Sequence Orthology more info
enables phospholipid binding	ISA Inferred from Sequence Alignment more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables receptor tyrosine kinase binding	IEA Inferred from Electronic Annotation more info
enables receptor tyrosine kinase binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in intermembrane lipid transfer	IEA Inferred from Electronic Annotation more info
involved_in phospholipid transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cell body	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in endomembrane system	IEA Inferred from Electronic Annotation more info
located_in intracellular anatomical structure	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: membrane-associated phosphatidylinositol transfer protein 2

Names: drosophila retinal degeneration B homolog 2; pyk2 N-terminal domain-interacting receptor 3; retinal degeneration B2 homolog

NCBI Reference Sequences (RefSeq)

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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)

NM_001289472.2 → NP_001276401.1 membrane-associated phosphatidylinositol transfer protein 2 isoform 2

See identical proteins and their annotated locations for NP_001276401.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and contains an alternate in-frame exon, compared to variant 1. The encoded isoform (2) is longer than isoform 1.

Source sequence(s)

AC113474

Consensus CDS

CCDS71669.1

UniProtKB/Swiss-Prot

Q6ZPQ6, Q9R1P5

UniProtKB/TrEMBL

Q6NS55

Related

ENSMUSP00000124111.2, ENSMUST00000161938.8

Conserved Domains (4) summary

cd08889
Location:1 → 258

SRPBCC_PITPNM1-2_like; Lipid-binding SRPBCC domain of mammalian PITPNM1-2 and related proteins (Class IIA PITPs)

smart00775
Location:1094 → 1225

LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins

COG5083
Location:991 → 1140

SMP2; Phosphatidate phosphatase PAH1, contains Lipin and LNS2 domains. can be involved in plasmid maintenance [Lipid transport and metabolism]

pfam02862
Location:704 → 948

DDHD; DDHD domain
NM_001424501.1 → NP_001411430.1 membrane-associated phosphatidylinositol transfer protein 2 isoform 1

Status: VALIDATED

Source sequence(s)

AC113474

UniProtKB/TrEMBL

Q6NS55
NM_001424502.1 → NP_001411431.1 membrane-associated phosphatidylinositol transfer protein 2 isoform 3

Status: VALIDATED

Source sequence(s)

AC113474

UniProtKB/TrEMBL

E9PYJ7, Q6NS55
NM_001424505.1 → NP_001411434.1 membrane-associated phosphatidylinositol transfer protein 2 isoform 4

Status: VALIDATED

Source sequence(s)

AC113474, AC164421

UniProtKB/TrEMBL

A0A0G2JFQ8
NM_001424506.1 → NP_001411435.1 membrane-associated phosphatidylinositol transfer protein 2 isoform 4

Status: VALIDATED

Source sequence(s)

AC113474

UniProtKB/TrEMBL

A0A0G2JFQ8

Related

ENSMUSP00000143269.2, ENSMUST00000159677.8
NM_001424507.1 → NP_001411436.1 membrane-associated phosphatidylinositol transfer protein 2 isoform 4

Status: VALIDATED

Source sequence(s)

AC113474

UniProtKB/TrEMBL

A0A0G2JFQ8
NM_011256.4 → NP_035386.1 membrane-associated phosphatidylinositol transfer protein 2 isoform 1

See identical proteins and their annotated locations for NP_035386.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the shorter isoform (1).

Source sequence(s)

AC113474, AC164421

Consensus CDS

CCDS19674.1

UniProtKB/TrEMBL

Q6NS55

Related

ENSMUSP00000124740.2, ENSMUST00000162812.8

Conserved Domains (4) summary

cd08889
Location:1 → 258

SRPBCC_PITPNM1-2_like; Lipid-binding SRPBCC domain of mammalian PITPNM1-2 and related proteins (Class IIA PITPs)

smart00775
Location:1040 → 1171

LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins

COG5083
Location:937 → 1086

SMP2; Phosphatidate phosphatase PAH1, contains Lipin and LNS2 domains. can be involved in plasmid maintenance [Lipid transport and metabolism]

pfam02862
Location:704 → 894

DDHD; DDHD domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000071.7 Reference GRCm39 C57BL/6J

Range

124256753..124387973 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030254223.1 → XP_030110083.1 membrane-associated phosphatidylinositol transfer protein 2 isoform X2

UniProtKB/Swiss-Prot

Q6ZPQ6, Q9R1P5

UniProtKB/TrEMBL

Q6NS55

Conserved Domains (4) summary

cd08889
Location:1 → 258

SRPBCC_PITPNM1-2_like; Lipid-binding SRPBCC domain of mammalian PITPNM1-2 and related proteins (Class IIA PITPs)

smart00775
Location:1094 → 1225

LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins

COG5083
Location:991 → 1140

SMP2; Phosphatidate phosphatase PAH1, contains Lipin and LNS2 domains. can be involved in plasmid maintenance [Lipid transport and metabolism]

pfam02862
Location:704 → 948

DDHD; DDHD domain
XM_030254224.1 → XP_030110084.1 membrane-associated phosphatidylinositol transfer protein 2 isoform X3

UniProtKB/TrEMBL

E9PYJ7, Q6NS55

Related

ENSMUSP00000124292.2, ENSMUST00000161273.8

Conserved Domains (4) summary

cd08889
Location:1 → 258

SRPBCC_PITPNM1-2_like; Lipid-binding SRPBCC domain of mammalian PITPNM1-2 and related proteins (Class IIA PITPs)

smart00775
Location:1090 → 1221

LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins

COG5083
Location:987 → 1136

SMP2; Phosphatidate phosphatase PAH1, contains Lipin and LNS2 domains. can be involved in plasmid maintenance [Lipid transport and metabolism]

pfam02862
Location:704 → 944

DDHD; DDHD domain
XM_006530214.2 → XP_006530277.1 membrane-associated phosphatidylinositol transfer protein 2 isoform X1

See identical proteins and their annotated locations for XP_006530277.1

Conserved Domains (4) summary

cd08889
Location:1 → 258

SRPBCC_PITPNM1-2_like; Lipid-binding SRPBCC domain of mammalian PITPNM1-2 and related proteins (Class IIA PITPs)

smart00775
Location:1144 → 1275

LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins

COG5083
Location:1041 → 1190

SMP2; Phosphatidate phosphatase PAH1, contains Lipin and LNS2 domains. can be involved in plasmid maintenance [Lipid transport and metabolism]

pfam02862
Location:704 → 998

DDHD; DDHD domain
XM_006530215.5 → XP_006530278.1 membrane-associated phosphatidylinositol transfer protein 2 isoform X1

See identical proteins and their annotated locations for XP_006530278.1

Conserved Domains (4) summary

cd08889
Location:1 → 258

SRPBCC_PITPNM1-2_like; Lipid-binding SRPBCC domain of mammalian PITPNM1-2 and related proteins (Class IIA PITPs)

smart00775
Location:1144 → 1275

LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins

COG5083
Location:1041 → 1190

SMP2; Phosphatidate phosphatase PAH1, contains Lipin and LNS2 domains. can be involved in plasmid maintenance [Lipid transport and metabolism]

pfam02862
Location:704 → 998

DDHD; DDHD domain
XM_006530217.4 → XP_006530280.1 membrane-associated phosphatidylinositol transfer protein 2 isoform X1

See identical proteins and their annotated locations for XP_006530280.1

Conserved Domains (4) summary

cd08889
Location:1 → 258

SRPBCC_PITPNM1-2_like; Lipid-binding SRPBCC domain of mammalian PITPNM1-2 and related proteins (Class IIA PITPs)

smart00775
Location:1144 → 1275

LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins

COG5083
Location:1041 → 1190

SMP2; Phosphatidate phosphatase PAH1, contains Lipin and LNS2 domains. can be involved in plasmid maintenance [Lipid transport and metabolism]

pfam02862
Location:704 → 998

DDHD; DDHD domain
XM_030254225.1 → XP_030110085.1 membrane-associated phosphatidylinositol transfer protein 2 isoform X4

Conserved Domains (4) summary

smart00775
Location:1078 → 1209

LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins

COG5083
Location:975 → 1124

SMP2; Phosphatidate phosphatase PAH1, contains Lipin and LNS2 domains. can be involved in plasmid maintenance [Lipid transport and metabolism]

pfam02862
Location:638 → 932

DDHD; DDHD domain

cl14643
Location:1 → 192

SRPBCC; START/RHO_alpha_C/PITP/Bet_v1/CoxG/CalC (SRPBCC) ligand-binding domain superfamily
XM_006530216.5 → XP_006530279.1 membrane-associated phosphatidylinositol transfer protein 2 isoform X1

See identical proteins and their annotated locations for XP_006530279.1

Conserved Domains (4) summary

cd08889
Location:1 → 258

SRPBCC_PITPNM1-2_like; Lipid-binding SRPBCC domain of mammalian PITPNM1-2 and related proteins (Class IIA PITPs)

smart00775
Location:1144 → 1275

LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins

COG5083
Location:1041 → 1190

SMP2; Phosphatidate phosphatase PAH1, contains Lipin and LNS2 domains. can be involved in plasmid maintenance [Lipid transport and metabolism]

pfam02862
Location:704 → 998

DDHD; DDHD domain
XM_030254227.2 → XP_030110087.1 membrane-associated phosphatidylinositol transfer protein 2 isoform X5

UniProtKB/TrEMBL

Q6NS55

Conserved Domains (4) summary

cd08889
Location:1 → 258

SRPBCC_PITPNM1-2_like; Lipid-binding SRPBCC domain of mammalian PITPNM1-2 and related proteins (Class IIA PITPs)

smart00775
Location:1040 → 1171

LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins

COG5083
Location:937 → 1086

SMP2; Phosphatidate phosphatase PAH1, contains Lipin and LNS2 domains. can be involved in plasmid maintenance [Lipid transport and metabolism]

pfam02862
Location:704 → 894

DDHD; DDHD domain
XM_006530218.5 → XP_006530281.1 membrane-associated phosphatidylinositol transfer protein 2 isoform X1

See identical proteins and their annotated locations for XP_006530281.1

Conserved Domains (4) summary

cd08889
Location:1 → 258

SRPBCC_PITPNM1-2_like; Lipid-binding SRPBCC domain of mammalian PITPNM1-2 and related proteins (Class IIA PITPs)

smart00775
Location:1144 → 1275

LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins

COG5083
Location:1041 → 1190

SMP2; Phosphatidate phosphatase PAH1, contains Lipin and LNS2 domains. can be involved in plasmid maintenance [Lipid transport and metabolism]

pfam02862
Location:704 → 998

DDHD; DDHD domain