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    GLTPD2 glycolipid transfer protein domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 388323, updated on 27-Nov-2024

    Summary

    Official Symbol
    GLTPD2provided by HGNC
    Official Full Name
    glycolipid transfer protein domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:33756
    See related
    Ensembl:ENSG00000182327 MIM:620824; AllianceGenome:HGNC:33756
    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
    Summary
    Predicted to enable ceramide 1-phosphate binding activity and ceramide 1-phosphate transfer activity. Predicted to be involved in ceramide transport and intermembrane lipid transfer. Predicted to be located in cytoplasm. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in kidney (RPKM 11.7), liver (RPKM 8.5) and 4 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See GLTPD2 in Genome Data Viewer
    Location:
    17p13.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (4788964..4790589)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (4678607..4680232)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (4692259..4693884)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene transmembrane 4 L six family member 5 Neighboring gene vitelline membrane outer layer 1 homolog Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8044 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11548 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:4699218-4699816 Neighboring gene proteasome 20S subunit beta 6 Neighboring gene chromosome 17 open reading frame 114 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8045

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Phenotypes

    EBI GWAS Catalog

    Description
    Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ceramide 1-phosphate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ceramide 1-phosphate transfer activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in ceramide 1-phosphate transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ceramide transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in intermembrane lipid transfer IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    glycolipid transfer protein domain-containing protein 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_001014985.3NP_001014985.3  glycolipid transfer protein domain-containing protein 2 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC233723
      Consensus CDS
      CCDS32534.1
      UniProtKB/Swiss-Prot
      A6NH11, A7E2T2
      Related
      ENSP00000328070.7, ENST00000331264.8
      Conserved Domains (1) summary
      pfam08718
      Location:102252
      GLTP; Glycolipid transfer protein (GLTP)
    2. NM_001375801.1NP_001362730.1  glycolipid transfer protein domain-containing protein 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC233723
      Conserved Domains (1) summary
      pfam08718
      Location:138288
      GLTP; Glycolipid transfer protein (GLTP)

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      4788964..4790589
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      4678607..4680232
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)