POGLUT3 (protein O-glucosyltransferase 3)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 143888
Gene name Protein O-glucosyltransferase 3
Gene symbol POGLUT3
Synonyms (NCBI Gene)
KDELC2
Chromosome 11
Chromosome location 11q22.3
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (13)
GO ID Ontology Definition Evidence Reference
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005788 Component Endoplasmic reticulum lumen IEA
GO:0006486 Process Protein glycosylation IEA
GO:0012505 Component Endomembrane system IBA
GO:0016740 Function Transferase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
618503 28496 ENSG00000178202
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q7Z4H8
Protein name Protein O-glucosyltransferase 3 (EC 2.4.1.-) (KDEL motif-containing protein 2) (Protein O-xylosyltransferase POGLUT3) (EC 2.4.2.-)
Protein function Protein glucosyltransferase that catalyzes the transfer of glucose from UDP-glucose to a serine residue within the consensus sequence peptide C-X-N-T-X-G-S-F-X-C (PubMed:30127001). Can also catalyze the transfer of xylose from UDP-xylose but les
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00630 Filamin 26 → 131 Filamin/ABP280 repeat Domain
PF05686 Glyco_transf_90 151 → 505 Glycosyl transferase family 90 Family
Sequence
Sequence length 507
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
Gene Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (10)
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
BREAST CANCER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CLONAL HEMATOPOIESIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (6)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Carcinoma Breast Carcinoma GWASCAT_DG 29058716
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Marfan Syndrome Marfan syndrome Pubtator 40107616 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Melanoma Melanoma Pubtator 33748290 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Plexiform leiomyoma Plexiform leiomyoma GWASCAT_DG 31649266
★★★★★
★☆☆☆☆
Found in Text Mining only
Renal Cell Carcinoma Renal Carcinoma GWASCAT_DG 28598434
★★★★★
★☆☆☆☆
Found in Text Mining only
Uterine Fibroids Uterine Fibroids GWASCAT_DG 31649266
★★★★★
★☆☆☆☆
Found in Text Mining only