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    PITPNM2 phosphatidylinositol transfer protein membrane associated 2 [ Homo sapiens (human) ]

    Gene ID: 57605, updated on 10-Dec-2024

    Summary

    Official Symbol
    PITPNM2provided by HGNC
    Official Full Name
    phosphatidylinositol transfer protein membrane associated 2provided by HGNC
    Primary source
    HGNC:HGNC:21044
    See related
    Ensembl:ENSG00000090975 MIM:608920; AllianceGenome:HGNC:21044
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NIR3; NIR-3; RDGB2; RDGBA2
    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]
    Expression
    Ubiquitous expression in ovary (RPKM 9.1), brain (RPKM 5.5) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See PITPNM2 in Genome Data Viewer
    Location:
    12q24.31
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (122983480..123151848, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (122980005..123147639, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (123468027..123635637, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATP binding cassette subfamily B member 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7247 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7248 Neighboring gene H3K27ac hESC enhancers GRCh37_chr12:123464801-123465306 and GRCh37_chr12:123465307-123465812 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7249 Neighboring gene 2-oxoglutarate and iron dependent oxygenase domain containing 2 Neighboring gene ARF like GTPase 6 interacting protein 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123496109-123497029 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123512108-123513066 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123513067-123514024 Neighboring gene microRNA 4304 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:123528097-123528676 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123543041-123543542 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123549368-123550230 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123550389-123550890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123554866-123555738 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123562495-123563216 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7250 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7251 Neighboring gene PITPNM2 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 3114 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123576672-123577193 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123577194-123577714 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123579095-123579658 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123579659-123580222 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123580855-123581820 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:123588763-123589503 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:123589504-123590246 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:123591730-123592470 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:123602973-123603786 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:123603787-123604600 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:123612195-123612806 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5028 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5029 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5030 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5031 Neighboring gene M-phase phosphoprotein 9 Neighboring gene MPRA-validated peak2026 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7253 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7254 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7255 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7256 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7257 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:123735127-123735916 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:123749585-123749777 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7258 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5032 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:123754459-123755207 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5033 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:123756263-123756770 Neighboring gene mitochondrial translation release factor in rescue Neighboring gene cyclin dependent kinase 2 associated protein 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (11 hits/1277 screens)

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
    EBI GWAS Catalog
    Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.
    EBI GWAS Catalog
    Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
    EBI GWAS Catalog

    Interactions

    General gene information

    Clone Names

    • KIAA1457

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding PubMed 
    enables phosphatidylcholine binding  
    enables phosphatidylcholine transporter activity  
    enables phosphatidylinositol binding  
    enables phosphatidylinositol transfer activity  
    enables phosphatidylinositol transfer activity PubMed 
    enables phosphatidylinositol transfer activity  
    enables protein binding PubMed 
    enables receptor tyrosine kinase binding PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm  
    located_in cytosol  
    located_in endomembrane system  
    located_in membrane  

    General protein information

    Preferred Names
    membrane-associated phosphatidylinositol transfer protein 2
    Names
    PYK2 N-terminal domain-interacting receptor 3
    retinal degeneration B alpha 2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001300801.2 → NP_001287730.1  membrane-associated phosphatidylinositol transfer protein 2 isoform 2

      See identical proteins and their annotated locations for NP_001287730.1

      Status: VALIDATED

      Source sequence(s)
      AC026362, AC073857
      Consensus CDS
      CCDS73543.1
      UniProtKB/Swiss-Prot
      Q9BZ72
      Conserved Domains (3) 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:1102 → 1233
      LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins
      pfam02862
      Location:718 → 956
      DDHD; DDHD domain
    2. NM_001384660.1 → NP_001371589.1  membrane-associated phosphatidylinositol transfer protein 2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC026362, AC073857
      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)
      COG5083
      Location:1101 → 1240
      SMP2; Phosphatidate phosphatase PAH1, contains Lipin and LNS2 domains. can be involved in plasmid maintenance [Lipid transport and metabolism]
      pfam02862
      Location:718 → 1048
      DDHD; DDHD domain
      cl21460
      Location:1194 → 1292
      HAD_like; Haloacid Dehalogenase-like Hydrolases
    3. NM_001384661.1 → NP_001371590.1  membrane-associated phosphatidylinositol transfer protein 2 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC026362, AC073857
      Conserved Domains (3) 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:1054 → 1185
      LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins
      pfam02862
      Location:718 → 908
      DDHD; DDHD domain
    4. NM_001384662.1 → NP_001371591.1  membrane-associated phosphatidylinositol transfer protein 2 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC026362, AC073857
      Conserved Domains (3) 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:1051 → 1182
      LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins
      pfam02862
      Location:718 → 905
      DDHD; DDHD domain
    5. NM_001384663.1 → NP_001371592.1  membrane-associated phosphatidylinositol transfer protein 2 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC026362, AC073857
      Conserved Domains (3) 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:1054 → 1185
      LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins
      pfam02862
      Location:718 → 908
      DDHD; DDHD domain
    6. NM_001384664.1 → NP_001371593.1  membrane-associated phosphatidylinositol transfer protein 2 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC026362, AC073857
      Conserved Domains (3) 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:1037 → 1168
      LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins
      pfam02862
      Location:701 → 891
      DDHD; DDHD domain
    7. NM_001384665.1 → NP_001371594.1  membrane-associated phosphatidylinositol transfer protein 2 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC026362, AC073857
      UniProtKB/TrEMBL
      A5D8U3, S4R414
      Related
      ENST00000451868.2
      Conserved Domains (1) summary
      cd08889
      Location:1 → 258
      SRPBCC_PITPNM1-2_like; Lipid-binding SRPBCC domain of mammalian PITPNM1-2 and related proteins (Class IIA PITPs)
    8. NM_001384666.1 → NP_001371595.1  membrane-associated phosphatidylinositol transfer protein 2 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC026362, AC073857
      UniProtKB/TrEMBL
      A5D8U3, S4R414
      Conserved Domains (1) summary
      cd08889
      Location:1 → 258
      SRPBCC_PITPNM1-2_like; Lipid-binding SRPBCC domain of mammalian PITPNM1-2 and related proteins (Class IIA PITPs)
    9. NM_001384667.1 → NP_001371596.1  membrane-associated phosphatidylinositol transfer protein 2 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC026362, AC073857
      UniProtKB/TrEMBL
      A5D8U3, S4R414
      Conserved Domains (1) summary
      cd08889
      Location:1 → 258
      SRPBCC_PITPNM1-2_like; Lipid-binding SRPBCC domain of mammalian PITPNM1-2 and related proteins (Class IIA PITPs)
    10. NM_001384668.1 → NP_001371597.1  membrane-associated phosphatidylinositol transfer protein 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC026362, AC073857
      Consensus CDS
      CCDS73543.1
      Conserved Domains (3) 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:1102 → 1233
      LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins
      pfam02862
      Location:718 → 956
      DDHD; DDHD domain
    11. NM_020845.3 → NP_065896.1  membrane-associated phosphatidylinositol transfer protein 2 isoform 1

      See identical proteins and their annotated locations for NP_065896.1

      Status: VALIDATED

      Source sequence(s)
      AC026362, AC073857
      Consensus CDS
      CCDS9242.1
      UniProtKB/Swiss-Prot
      Q9BZ72, Q9P271
      Related
      ENSP00000322218.4, ENST00000320201.10
      Conserved Domains (3) 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:1108 → 1239
      LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins
      pfam02862
      Location:718 → 962
      DDHD; DDHD domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      122983480..123151848 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047429206.1 → XP_047285162.1  membrane-associated phosphatidylinositol transfer protein 2 isoform X7

      UniProtKB/Swiss-Prot
      Q9BZ72, Q9P271
    2. XM_047429208.1 → XP_047285164.1  membrane-associated phosphatidylinositol transfer protein 2 isoform X9

      Related
      ENSP00000280562.5, ENST00000280562.9
    3. XM_047429215.1 → XP_047285171.1  membrane-associated phosphatidylinositol transfer protein 2 isoform X15

    4. XM_047429211.1 → XP_047285167.1  membrane-associated phosphatidylinositol transfer protein 2 isoform X12

    5. XM_047429204.1 → XP_047285160.1  membrane-associated phosphatidylinositol transfer protein 2 isoform X4

    6. XM_047429209.1 → XP_047285165.1  membrane-associated phosphatidylinositol transfer protein 2 isoform X10

    7. XM_047429203.1 → XP_047285159.1  membrane-associated phosphatidylinositol transfer protein 2 isoform X3

    8. XM_047429212.1 → XP_047285168.1  membrane-associated phosphatidylinositol transfer protein 2 isoform X13

    9. XM_047429205.1 → XP_047285161.1  membrane-associated phosphatidylinositol transfer protein 2 isoform X6

    10. XM_047429207.1 → XP_047285163.1  membrane-associated phosphatidylinositol transfer protein 2 isoform X8

    11. XM_047429202.1 → XP_047285158.1  membrane-associated phosphatidylinositol transfer protein 2 isoform X2

    12. XM_047429216.1 → XP_047285172.1  membrane-associated phosphatidylinositol transfer protein 2 isoform X16

    13. XM_047429210.1 → XP_047285166.1  membrane-associated phosphatidylinositol transfer protein 2 isoform X11

    14. XM_047429200.1 → XP_047285156.1  membrane-associated phosphatidylinositol transfer protein 2 isoform X1

    15. XM_047429213.1 → XP_047285169.1  membrane-associated phosphatidylinositol transfer protein 2 isoform X14

    16. XM_047429201.1 → XP_047285157.1  membrane-associated phosphatidylinositol transfer protein 2 isoform X1

    17. XM_047429214.1 → XP_047285170.1  membrane-associated phosphatidylinositol transfer protein 2 isoform X14

    18. XM_024449099.2 → XP_024304867.1  membrane-associated phosphatidylinositol transfer protein 2 isoform X1

      Conserved Domains (3) 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:1194 → 1325
      LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins
      pfam02862
      Location:718 → 1048
      DDHD; DDHD domain
    19. XM_047429217.1 → XP_047285173.1  membrane-associated phosphatidylinositol transfer protein 2 isoform X17

    20. XM_024449100.2 → XP_024304868.1  membrane-associated phosphatidylinositol transfer protein 2 isoform X5

      Conserved Domains (3) summary
      smart00775
      Location:1128 → 1259
      LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins
      pfam02862
      Location:652 → 982
      DDHD; DDHD domain
      cl14643
      Location:1 → 192
      SRPBCC; START/RHO_alpha_C/PITP/Bet_v1/CoxG/CalC (SRPBCC) ligand-binding domain superfamily
    21. XM_024449101.2 → XP_024304869.1  membrane-associated phosphatidylinositol transfer protein 2 isoform X18

      UniProtKB/TrEMBL
      Q9UF51
      Conserved Domains (2) summary
      smart00775
      Location:810 → 941
      LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins
      pfam02862
      Location:334 → 664
      DDHD; DDHD domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      122980005..123147639 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372666.1 → XP_054228641.1  membrane-associated phosphatidylinositol transfer protein 2 isoform X16

    2. XM_054372660.1 → XP_054228635.1  membrane-associated phosphatidylinositol transfer protein 2 isoform X11

    3. XM_054372649.1 → XP_054228624.1  membrane-associated phosphatidylinositol transfer protein 2 isoform X1

    4. XM_054372663.1 → XP_054228638.1  membrane-associated phosphatidylinositol transfer protein 2 isoform X14

    5. XM_054372651.1 → XP_054228626.1  membrane-associated phosphatidylinositol transfer protein 2 isoform X1

    6. XM_054372652.1 → XP_054228627.1  membrane-associated phosphatidylinositol transfer protein 2 isoform X19

    7. XM_054372665.1 → XP_054228640.1  membrane-associated phosphatidylinositol transfer protein 2 isoform X15

    8. XM_054372661.1 → XP_054228636.1  membrane-associated phosphatidylinositol transfer protein 2 isoform X12

    9. XM_054372655.1 → XP_054228630.1  membrane-associated phosphatidylinositol transfer protein 2 isoform X4

    10. XM_054372659.1 → XP_054228634.1  membrane-associated phosphatidylinositol transfer protein 2 isoform X10

    11. XM_054372654.1 → XP_054228629.1  membrane-associated phosphatidylinositol transfer protein 2 isoform X3

    12. XM_054372662.1 → XP_054228637.1  membrane-associated phosphatidylinositol transfer protein 2 isoform X13

    13. XM_054372657.1 → XP_054228632.1  membrane-associated phosphatidylinositol transfer protein 2 isoform X6

    14. XM_054372658.1 → XP_054228633.1  membrane-associated phosphatidylinositol transfer protein 2 isoform X8

    15. XM_054372653.1 → XP_054228628.1  membrane-associated phosphatidylinositol transfer protein 2 isoform X2

    16. XM_054372664.1 → XP_054228639.1  membrane-associated phosphatidylinositol transfer protein 2 isoform X14

    17. XM_054372650.1 → XP_054228625.1  membrane-associated phosphatidylinositol transfer protein 2 isoform X1

    18. XM_054372667.1 → XP_054228642.1  membrane-associated phosphatidylinositol transfer protein 2 isoform X17

    19. XM_054372656.1 → XP_054228631.1  membrane-associated phosphatidylinositol transfer protein 2 isoform X5

    20. XM_054372668.1 → XP_054228643.1  membrane-associated phosphatidylinositol transfer protein 2 isoform X18

      UniProtKB/TrEMBL
      Q9UF51

    RNA

    1. XR_008488646.1 RNA Sequence

    2. XR_008488647.1 RNA Sequence

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