Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	83468
Gene name	Glycosyltransferase 8 domain containing 2
Gene symbol	GLT8D2
Synonyms (NCBI Gene)	-
Chromosome	12
Chromosome location	12q23.3

miRTarBase ID	miRNA	Experiments	Reference
MIRT025660	hsa-miR-7-5p	Microarray	17612493
MIRT1021755	hsa-miR-4307	CLIP-seq
MIRT1021756	hsa-miR-4704-3p	CLIP-seq

GO ID	Ontology	Definition	Evidence
GO:0005794	Component	Golgi apparatus	IBA
GO:0008194	Function	UDP-glycosyltransferase activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA

MIM	HGNC	e!Ensembl
HGNC	N/A	HGNC

Q9H1C3

Protein name

Glycosyltransferase 8 domain-containing protein 2 (EC 2.4.1.-)

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01501	Glyco_transf_8	52 → 324	Glycosyl transferase family 8	Family

Sequence

MALLRKINQVLLFLLIVTLCVILYKKVHKGTVPKNDADDESETPEELEEEIPVVICAAAG
RMGATMAAINSIYSNTDANILFYVVGLRNTLTRIRKWIEHSKLREINFKIVEFNPMVLKG
KIRPDSSRPELLQPLNFVRFYLPLLIHQHEKVIYLDDDVIVQGDIQELYDTTLALGHAAA
FSDDCDLPSAQDINRLVGLQNTYMGYLDYRKKAIKDLGISPSTCSFNPGVIVANMTEWKH
QRITKQLEKWMQKNVEENLYSSSLGGGVATSPMLIVFHGKYSTINPLWHIRHLGWNPDAR
YSEHFLQEAKLLHWNGRHKPWDFPSVHNDLWESWFVPDPAGIFKLNHHS

Sequence length

349

Interactions

View interactions

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)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
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.
CIRRHOSIS OF LIVER	—	GWAS catalog	22841784	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATOCONUS	—	GWAS catalog	23291589	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Marfanoid habitus and intellectual disability	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Liver Cirrhosis	Liver Cirrhosis	GWASCAT_DG	22841784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	GWASDB_DG	22841784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	22581838	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	37277853	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only

GLT8D2 (glycosyltransferase 8 domain containing 2)

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