Gene Gene information from NCBI Gene database.
Entrez ID 11226
Gene name Polypeptide N-acetylgalactosaminyltransferase 6
Gene symbol GALNT6
Synonyms (NCBI Gene)
GALNAC-T6GalNAcT6
Chromosome 12
Chromosome location 12q13.13
Summary This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalN
miRNA miRNA information provided by mirtarbase database.
499
miRTarBase ID miRNA Experiments Reference
MIRT661414 hsa-miR-4722-3p HITS-CLIP 23824327
MIRT661413 hsa-miR-6727-3p HITS-CLIP 23824327
MIRT661412 hsa-miR-6747-3p HITS-CLIP 23824327
MIRT661410 hsa-miR-3653-5p HITS-CLIP 23824327
MIRT661411 hsa-miR-1976 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0004653 Function Polypeptide N-acetylgalactosaminyltransferase activity IBA
GO:0004653 Function Polypeptide N-acetylgalactosaminyltransferase activity IDA 31932717
GO:0004653 Function Polypeptide N-acetylgalactosaminyltransferase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605148 4128 ENSG00000139629
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NCL4
Protein name Polypeptide N-acetylgalactosaminyltransferase 6 (EC 2.4.1.41) (Polypeptide GalNAc transferase 6) (GalNAc-T6) (pp-GaNTase 6) (Protein-UDP acetylgalactosaminyltransferase 6) (UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 6)
Protein function Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor (PubMed:10464263, PubMed:31932717). May participate in synthesi
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00535 Glycos_transf_2 180 368 Glycosyl transferase family 2 Family
PF00652 Ricin_B_lectin 497 619 Ricin-type beta-trefoil lectin domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in placenta and trachea. Weakly expressed in brain and pancreas. Expressed in fibroblast. Weakly or not expressed in lung, liver, muscle, kidney, spleen, thymus, prostate, testis, ovary, intestine, colon, leukocyte, stomach,
Sequence
MRLLRRRHMPLRLAMVGCAFVLFLFLLHRDVSSREEATEKPWLKSLVSRKDHVLDLMLEA
MNNLRDSMPKLQIRAPEAQQTLFSINQSCLPGFYTPAELKPFWERPPQDPNAPGADGKAF
QKSKWTPLETQEKEEGYKKHCFNAFASDRISLQRSLGPDTRPPECVDQKFRRCPPLATTS
VIIVFHNEAWSTLLRTVYSVLHTTPAILLKEIILVDDASTEEHLKEKLEQYVKQLQVVRV
VRQEERKGLITARLLGASVAQAEVLTFLDAHCECFHGWLEPLLARIAEDKTVVVSPDIVT
IDLNTFEFAKPVQRGRVHSRGNFDWSLTFGWETLPPHEKQRRKDETYPIKSPTFAGGLFS
ISKSYFEH
IGTYDNQMEIWGGENVEMSFRVWQCGGQLEIIPCSVVGHVFRTKSPHTFPKG
TSVIARNQVRLAEVWMDSYKKIFYRRNLQAAKMAQEKSFGDISERLQLREQLHCHNFSWY
LHNVYPEMFVPDLTPTFYGAIKNLGTNQCLDVGENNRGGKPLIMYSCHGLGGNQYFEYTT
QRDLRHNIAKQLCLHVSKGALGLGSCHFTGKNSQVPKDEEWELAQDQLIRNSGSGTCLTS
QDKKPAMAPCNPSDPHQLW
LFV
Sequence length 622
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Mucin type O-glycan biosynthesis
Other types of O-glycan biosynthesis
Metabolic pathways
  O-linked glycosylation of mucins
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
KERATOCONUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 29187600
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 29187600
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31296175
★☆☆☆☆
Found in Text Mining only
Atrophy Atrophy Pubtator 33319642 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 16596643, 20215525, 27237318, 30208353, 30662357
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 19287074, 21472136, 27237318, 30208353, 32559179 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 28388560, 29187600, 30709929, 32559179 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 28388560, 29844132
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 35909886 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 23799843 Associate
★☆☆☆☆
Found in Text Mining only