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

Gene ID: 57605, updated on 4-Jan-2025

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
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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

EBI GWAS Catalog

Description
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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)

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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_001300801.2NP_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:1258
    SRPBCC_PITPNM1-2_like; Lipid-binding SRPBCC domain of mammalian PITPNM1-2 and related proteins (Class IIA PITPs)
    smart00775
    Location:11021233
    LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins
    pfam02862
    Location:718956
    DDHD; DDHD domain
  2. NM_001384660.1NP_001371589.1  membrane-associated phosphatidylinositol transfer protein 2 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC026362, AC073857
    Conserved Domains (4) summary
    cd08889
    Location:1258
    SRPBCC_PITPNM1-2_like; Lipid-binding SRPBCC domain of mammalian PITPNM1-2 and related proteins (Class IIA PITPs)
    COG5083
    Location:11011240
    SMP2; Phosphatidate phosphatase PAH1, contains Lipin and LNS2 domains. can be involved in plasmid maintenance [Lipid transport and metabolism]
    pfam02862
    Location:7181048
    DDHD; DDHD domain
    cl21460
    Location:11941292
    HAD_like; Haloacid Dehalogenase-like Hydrolases
  3. NM_001384661.1NP_001371590.1  membrane-associated phosphatidylinositol transfer protein 2 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC026362, AC073857
    Conserved Domains (3) summary
    cd08889
    Location:1258
    SRPBCC_PITPNM1-2_like; Lipid-binding SRPBCC domain of mammalian PITPNM1-2 and related proteins (Class IIA PITPs)
    smart00775
    Location:10541185
    LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins
    pfam02862
    Location:718908
    DDHD; DDHD domain
  4. NM_001384662.1NP_001371591.1  membrane-associated phosphatidylinositol transfer protein 2 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC026362, AC073857
    Conserved Domains (3) summary
    cd08889
    Location:1258
    SRPBCC_PITPNM1-2_like; Lipid-binding SRPBCC domain of mammalian PITPNM1-2 and related proteins (Class IIA PITPs)
    smart00775
    Location:10511182
    LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins
    pfam02862
    Location:718905
    DDHD; DDHD domain
  5. NM_001384663.1NP_001371592.1  membrane-associated phosphatidylinositol transfer protein 2 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC026362, AC073857
    Conserved Domains (3) summary
    cd08889
    Location:1258
    SRPBCC_PITPNM1-2_like; Lipid-binding SRPBCC domain of mammalian PITPNM1-2 and related proteins (Class IIA PITPs)
    smart00775
    Location:10541185
    LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins
    pfam02862
    Location:718908
    DDHD; DDHD domain
  6. NM_001384664.1NP_001371593.1  membrane-associated phosphatidylinositol transfer protein 2 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC026362, AC073857
    Conserved Domains (3) summary
    cd08889
    Location:1258
    SRPBCC_PITPNM1-2_like; Lipid-binding SRPBCC domain of mammalian PITPNM1-2 and related proteins (Class IIA PITPs)
    smart00775
    Location:10371168
    LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins
    pfam02862
    Location:701891
    DDHD; DDHD domain
  7. NM_001384665.1NP_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:1258
    SRPBCC_PITPNM1-2_like; Lipid-binding SRPBCC domain of mammalian PITPNM1-2 and related proteins (Class IIA PITPs)
  8. NM_001384666.1NP_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:1258
    SRPBCC_PITPNM1-2_like; Lipid-binding SRPBCC domain of mammalian PITPNM1-2 and related proteins (Class IIA PITPs)
  9. NM_001384667.1NP_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:1258
    SRPBCC_PITPNM1-2_like; Lipid-binding SRPBCC domain of mammalian PITPNM1-2 and related proteins (Class IIA PITPs)
  10. NM_001384668.1NP_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:1258
    SRPBCC_PITPNM1-2_like; Lipid-binding SRPBCC domain of mammalian PITPNM1-2 and related proteins (Class IIA PITPs)
    smart00775
    Location:11021233
    LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins
    pfam02862
    Location:718956
    DDHD; DDHD domain
  11. NM_020845.3NP_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:1258
    SRPBCC_PITPNM1-2_like; Lipid-binding SRPBCC domain of mammalian PITPNM1-2 and related proteins (Class IIA PITPs)
    smart00775
    Location:11081239
    LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins
    pfam02862
    Location:718962
    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_047429206.1XP_047285162.1  membrane-associated phosphatidylinositol transfer protein 2 isoform X7

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

    Conserved Domains (3) summary
    cd08889
    Location:1258
    SRPBCC_PITPNM1-2_like; Lipid-binding SRPBCC domain of mammalian PITPNM1-2 and related proteins (Class IIA PITPs)
    smart00775
    Location:11941325
    LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins
    pfam02862
    Location:7181048
    DDHD; DDHD domain
  19. XM_047429217.1XP_047285173.1  membrane-associated phosphatidylinositol transfer protein 2 isoform X17

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

    Conserved Domains (3) summary
    smart00775
    Location:11281259
    LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins
    pfam02862
    Location:652982
    DDHD; DDHD domain
    cl14643
    Location:1192
    SRPBCC; START/RHO_alpha_C/PITP/Bet_v1/CoxG/CalC (SRPBCC) ligand-binding domain superfamily
  21. XM_024449101.2XP_024304869.1  membrane-associated phosphatidylinositol transfer protein 2 isoform X18

    UniProtKB/TrEMBL
    Q9UF51
    Conserved Domains (2) summary
    smart00775
    Location:810941
    LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins
    pfam02862
    Location:334664
    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_054372666.1XP_054228641.1  membrane-associated phosphatidylinositol transfer protein 2 isoform X16

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

  20. XM_054372668.1XP_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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