Gene Gene information from NCBI Gene database.
Entrez ID 388323
Gene name Glycolipid transfer protein domain containing 2
Gene symbol GLTPD2
Synonyms (NCBI Gene)
-
Chromosome 17
Chromosome location 17p13.2
miRNA miRNA information provided by mirtarbase database.
4
miRTarBase ID miRNA Experiments Reference
MIRT017128 hsa-miR-335-5p Microarray 18185580
MIRT2002787 hsa-miR-2277-5p CLIP-seq
MIRT2002788 hsa-miR-4479 CLIP-seq
MIRT2002789 hsa-miR-4758-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
GO ID Ontology Definition Evidence Reference
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IBA
GO:0032691 Process Negative regulation of interleukin-1 beta production IEA
GO:0035627 Process Ceramide transport IBA
GO:0120009 Process Intermembrane lipid transfer IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
620824 33756 ENSG00000182327
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A6NH11
Protein name Glycolipid transfer protein domain-containing protein 2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08718 GLTP 99 253 Glycolipid transfer protein (GLTP) Domain
Sequence
MGVAARPPALRHWFSHSIPLAIFALLLLYLSVRSLGARSGCGPRAQPCVPGETAPFQVRQ
ESGTLEAPERKQPPCLGPRGMLGRMMRRFHASLKPEGDVGLSPYLAGWRALVEFLTPLGS
VFAFATREAFTKVTDLEARVHGPDAEHYWSLVAMAAWERRAGLLEQPGAAPRDPTRSSGS
RTLLLLHRALRWSQLCLHRVATGALGGPDAGVQCSDAYRAALGPHHPWLVRQTARLAFLA
FPGRRRLLELACP
GATEAEARAALVRAAGTLEDVYNRTQSLLAERGLLQLA
Sequence length 291
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
SYSTEMIC LUPUS ERYTHEMATOSUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations