PGAP4 (post-GPI attachment to proteins GalNAc transferase 4)

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Gene Gene information from NCBI Gene database.
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Entrez ID 84302
Gene name Post-GPI attachment to proteins GalNAc transferase 4
Gene symbol PGAP4
Synonyms (NCBI Gene)
C9orf125TMEM246
Chromosome 9
Chromosome location 9q31.1
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IBA
GO:0000139 Component Golgi membrane IDA 29374258
GO:0000139 Component Golgi membrane IEA
GO:0005794 Component Golgi apparatus IEA
GO:0006506 Process GPI anchor biosynthetic process IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
620264 28180 ENSG00000165152
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BRR3
Protein name GPI-N-acetylgalactosamine transferase PGAP4 (GPI-GalNAc transferase PGAP4) (EC 2.4.1.-) (Post-GPI attachment to proteins GalNAc transferase 4) (Post-GPI attachment to proteins factor 4) (Transmembrane protein 246)
Protein function Golgi-resident glycosylphosphatidylinositol (GPI)-N-acetylgalactosamine transferase that catalyzes the N-acetyl-beta-D-galactosamine transfer from an UDP-N-acetyl-alpha-D-galactosamine to the 4-OH-position of the first mannose of the glycosylpho
Family and domains
Sequence 
MSTSTSPAAMLLRRLRRLSWGSTAVQLFILTVVTFGLLAPLACHRLLHSYFYLRHWHLNQ
MSQEFLQQSLKEGEAALHYFEELPSANGSVPIVWQATPRPWLVITIITVDRQPGFHYVLQ
VVSQFHRLLQQCGPQCEGHQLFLCNVERSVSHFDAKLLSKYVPVANRYEGTEDDYGDDPS
TNSFEKEKQDYVYCLESSLQTYNPDYVLMVEDDAVPEEQIFPVLEHLLRARFSEPHLRDA
LYLKLYHPERLQHYINPEPMRILEWVGVGMLLGPLLTWIYMRFASRPGFSWPVMLFFSLY
SMGLVELVGRHYFLELRRLSPSLYSVVPASQCCTPAMLFPAPAARRTLTYLSQVYCHKGF
GKDMALYSLLRAKGERAYVVEPNLVKHIGLFSSLRYNFHPSLL
Sequence length 403
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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KEGG Pathway
Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
Metabolic pathways
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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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 Reference Evidence Score
THYROIDITIS — GWAS catalog 39024449
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations

No strongly related genes found yet for PGAP4.

No additional diseases found yet through genes similar to PGAP4.