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

Gene ID: 19679, updated on 21-Apr-2024

Summary

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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 phosphatidylinositol-mediated signaling. Predicted to be located in cytoskeleton and membrane. 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, Apr 2022]
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

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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_000071.7Genomic Context describing neighboring genes Neighboring gene 2-oxoglutarate and iron-dependent oxygenase domain containing 2 Neighboring gene ADP-ribosylation factor-like 6 interacting protein 4 Neighboring gene predicted gene, 52788 Neighboring gene predicted gene, 57733 Neighboring gene phosphatidylinositol transfer protein, membrane-associated 2, opposite strand 2 Neighboring gene STARR-seq mESC enhancer starr_14332 Neighboring gene STARR-positive B cell enhancer ABC_E6381 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:124682259-124682612 Neighboring gene phosphatidylinositol transfer protein, membrane-associated 2, opposite strand 1 Neighboring gene STARR-seq mESC enhancer starr_14333 Neighboring gene M-phase phosphoprotein 9 Neighboring gene mitochondrial translation release factor in rescue

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. RdgB2 is required for dim-light input into intrinsically photosensitive retinal ganglion cells. Walker MT, et al. Mol Biol Cell, 2015 Oct 15. PMID 26269578, Free PMC Article
  2. The mammalian retinal degeneration B2 gene is not required for photoreceptor function and survival. Lu C, et al. Neuroscience, 2001. PMID 11744244
  3. Pitpnm1 is expressed in hair cells during development but is not required for hearing. Carlisle FA, et al. Neuroscience, 2013 Sep 17. PMID 23820044, Free PMC Article
  4. Cloning and characterization of a novel variant (mM-rdgBbeta1) of mouse M-rdgBs, mammalian homologs of Drosophila retinal degeneration B gene proteins, and its mRNA localization in mouse brain in comparison with other M-rdgBs. Takano N, et al. J Neurochem, 2003 Feb. PMID 12562526
  5. Neuronal ER-plasma membrane junctions organized by Kv2-VAP pairing recruit Nir proteins and affect phosphoinositide homeostasis. Kirmiz M, et al. J Biol Chem, 2019 Nov 22. PMID 31594866, Free PMC Article

See all (28) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables calcium ion binding ISO
Inferred from Sequence Orthology
more info
  
enables lipid binding IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
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 ISO
Inferred from Sequence Orthology
more info
  
enables phospholipid binding ISA
Inferred from Sequence Alignment
more info
 PubMed 
enables phospholipid transporter activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables receptor tyrosine kinase binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
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 cytoskeleton 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)

  1. 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

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

    Status: VALIDATED

    Source sequence(s)
    AC113474

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

    Status: VALIDATED

    Source sequence(s)
    AC113474
    UniProtKB/TrEMBL
    E9PYJ7

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

    Status: VALIDATED

    Source sequence(s)
    AC113474, AC164421
    UniProtKB/TrEMBL
    A0A0G2JFQ8

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

    Status: VALIDATED

    Source sequence(s)
    AC113474
    UniProtKB/TrEMBL
    A0A0G2JFQ8

  6. NM_001424507.1 → NP_001411436.1  membrane-associated phosphatidylinositol transfer protein 2 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC113474
    UniProtKB/TrEMBL
    A0A0G2JFQ8

  7. 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

  1. NC_000071.7 Reference GRCm39 C57BL/6J

    Range
    124256753..124387973 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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

  9. 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
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6ZPQ6.2 GenPept UniProtKB/Swiss-Prot:Q6ZPQ6

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