Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	84572
Gene name Gene Name - the full gene name approved by the HGNC.	N-acetylglucosamine-1-phosphate transferase subunit gamma
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	GNPTG
Synonyms (NCBI Gene) Gene synonyms aliases	C16orf27, GNPTAG, LP2537, RJD9
Chromosome Chromosome number	16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	16p13.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes the gamma sunbunit of the N-acetylglucosamine-1-phosphotransferase complex. This hexameric complex, composed of alpha, beta and gamma subunits, catalyzes the first step in synthesis of a mannose 6-phosphate lysosomal recognition marker.

Show/Hide all(31)

SNP ID	Visualize variation	Clinical significance	Consequence
rs76594024	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, 5 prime UTR variant, coding sequence variant
rs112850896	G>A,C	Likely-pathogenic	Splice acceptor variant
rs137852884	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs137852885	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs193302847	G>A,C	Likely-pathogenic, pathogenic	Splice acceptor variant
rs193302848	C>T	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant
rs193302849	ACA>-	Likely-pathogenic, pathogenic	Coding sequence variant, inframe deletion, 5 prime UTR variant
rs193302850	GACGCCTGCCGTT>-	Pathogenic	Frameshift variant, coding sequence variant
rs193302851	->C	Pathogenic	Frameshift variant, coding sequence variant
rs193302853	GTGGGCCTGGCTGGGAGCTGGGTGCTGCCCCTGC>-	Pathogenic	Intron variant
rs193302854	G>C,T	Pathogenic	Splice acceptor variant
rs193302855	A>G	Pathogenic	Splice acceptor variant
rs193302856	G>-	Pathogenic	Splice acceptor variant, coding sequence variant
rs193302857	->T	Pathogenic	Frameshift variant, coding sequence variant
rs193302858	TT>-,T	Pathogenic	Stop gained, frameshift variant, coding sequence variant
rs193302859	GAGGATGCTGGCTACTTAAAGACCCCAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs281864956	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs376679416	G>A,C,T	Likely-pathogenic	Splice donor variant
rs756225251	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs756959430	C>-,CC	Pathogenic	Frameshift variant, coding sequence variant
rs763678034	G>A,C,T	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant, stop gained
rs775359476	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs1060499690	G>A	Likely-pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs1060499691	G>A	Likely-pathogenic	Intron variant
rs1260510628	G>C,T	Likely-pathogenic	Splice donor variant
rs1336176104	G>A,C	Pathogenic	Intron variant
rs1555451608	T>A,C	Likely-pathogenic	Splice donor variant
rs1555451643	AT>-	Likely-pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs1555451866	G>C	Likely-pathogenic	Splice acceptor variant
rs1555451874	AACCGGCTGGC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555451988	->C	Pathogenic	Frameshift variant, coding sequence variant

Show/Hide all(11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	26385638, 28514442
GO:0005576	Component	Extracellular region	IEA
GO:0005794	Component	Golgi apparatus	IBA
GO:0005794	Component	Golgi apparatus	IDA	27038293
GO:0005794	Component	Golgi apparatus	IEA
GO:0005794	Component	Golgi apparatus	ISS
GO:0016256	Process	N-glycan processing to lysosome	NAS	25505245
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0046835	Process	Carbohydrate phosphorylation	IDA	19955174
GO:0070062	Component	Extracellular exosome	HDA	19199708
GO:0070622	Component	UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase complex	IPI	26385638

MIM	HGNC	e!Ensembl
607838	23026	ENSG00000090581

Protein

UniProt ID

Q9UJJ9

Protein name

N-acetylglucosamine-1-phosphotransferase subunit gamma (GlcNAc-1-phosphotransferase subunit gamma) (UDP-N-acetylglucosamine-1-phosphotransferase subunit gamma)

Protein function

Non-catalytic subunit of the N-acetylglucosamine-1-phosphotransferase complex, an enzyme that catalyzes the formation of mannose 6-phosphate (M6P) markers on high mannose type oligosaccharides in the Golgi apparatus. Binds and presents the high

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13015	PRKCSH_1	48 → 211	Glucosidase II beta subunit-like protein	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:10712439}.

Sequence

MAAGLARLLLLLGLSAGGPAPAGAAKMKVVEEPNAFGVNNPFLPQASRLQAKRDPSPVSG
PVHLFRLSGKCFSLVESTYKYEFCPFHNVTQHEQTFRWNAYSGILGIWHEWEIANNTFTG
MWMRDGDACRSRSRQSKVELACGKSNRLAHVSEPSTCVYALTFETPLVCHPHALLVYPTL
PEALQRQWDQVEQDLADELITPQGHEKLLRTLFEDAGYLKTPEENEPTQLEGGPDSLGFE
TLENCRKAHKELSKEIKRLKGLLTQHGIPYTRPTETSNLEHLGHETPRAKSPEQLRGDPG
LRGSL

Sequence length

305

Interactions

View interactions

	KEGG
	Lysosome

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
retinal dystrophy	Retinal dystrophy	rs193302848, rs193302849	N/A
mucolipidosis	Mucolipidosis	rs1596603769, rs1060499690	N/A
Rod-cone dystrophy	rod-cone dystrophy	rs756225251, rs193302849	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Diabetes	Type 2 diabetes	N/A	N/A	GWAS

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Atrial Fibrillation	Associate	39864423
Disease	Associate	28950892
Lysosomal Storage Diseases	Associate	35939698
Mucolipidoses	Associate	26130485, 27038293, 29872134, 35939698
Mucolipidosis II Alpha Beta	Associate	26130485, 29872134
Mucolipidosis III Gamma	Associate	26130485, 27038293, 28950892, 37752499
Myopia	Associate	29346494
Neuraminidase 1 deficiency	Associate	35023661
Retinitis Pigmentosa	Associate	37752499
Scleroderma Systemic	Associate	28950892
Stuttering	Associate	20147709, 24807205, 25643770, 26130485, 31669185

GNPTG (N-acetylglucosamine-1-phosphate transferase subunit gamma)