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

    Gene ID: 19679, updated on 2-Nov-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 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, Nov 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

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    See Pitpnm2 in Genome Data Viewer
    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 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. The phosphatidylinositol-transfer protein Nir3 promotes PI(4,5)P(2) replenishment in response to TCR signaling during T cell development and survival. Lu W, et al. Nat Immunol, 2023 Jan. PMID 36581712, Free PMC Article
    2. 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
    3. The mammalian retinal degeneration B2 gene is not required for photoreceptor function and survival. Lu C, et al. Neuroscience, 2001. PMID 11744244
    4. 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
    5. 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

    See all (30) 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 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)

    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
      Related
      ENSMUSP00000143269.2, ENSMUST00000159677.8

    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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