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

    Gene ID: 388323, updated on 2-Nov-2024

    Summary

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    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
    mouse all
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

    Bibliography

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    Related articles in PubMed

    1. Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis. Inouye M, et al. PLoS Genet, 2012. PMID 22916037, Free PMC Article
    2. Toward an understanding of the protein interaction network of the human liver. Wang J, et al. Mol Syst Biol, 2011 Oct 11. PMID 21988832, Free PMC Article
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
    4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    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

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    Preferred Names
    glycolipid transfer protein domain-containing protein 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_001014985.3 → NP_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:102 → 252
      GLTP; Glycolipid transfer protein (GLTP)

    2. NM_001375801.1 → NP_001362730.1  glycolipid transfer protein domain-containing protein 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC233723
      Conserved Domains (1) summary
      pfam08718
      Location:138 → 288
      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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NH11.2 GenPept UniProtKB/Swiss-Prot:A6NH11

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
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