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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 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)

Genotypes

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.

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