Pomt2 Gene Search Result

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15 records found for search term Pomt2

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RGD ID	Symbol	Name	Description	Chr	Start	Stop	Species	Annotations	Match	Type
1313480	POMT2	protein O-mannosyltransferase 2	The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT1 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS).[provided by ... (more) RefSeq, Oct 2008]	14	77274956	77320883	Human	407	symbol , COSMIC , Human Proteome Map	gene, protein-coding, REVIEWED [RefSeq]
1313481	Pomt2	protein-O-mannosyltransferase 2	This gene encodes an integral membrane protein that belongs to the dolichyl-phosphate-mannose-protein mannosyltransferase family. The encoded enzyme is found in the membrane of the endoplasmic reticulum. This protein is a component of the protein O-mannosyltransferase enzyme complex which is involve ... (more) d in modification of the protein alpha-dystroglycan. Mutations in the human gene are a cause of different forms of muscular dystrophy-dystroglycanopathy (MDDG), type A2 (also known as Walker-Warburg syndrome), type B2 and type C2 (also known as limb-girdle muscular dystrophy). [provided by RefSeq, Sep 2015]	12	87153635	87194742	Mouse	115	symbol , PhenoGen	gene, protein-coding, REVIEWED [RefSeq]
1586427	Pomt2	protein-O-mannosyltransferase 2	ENCODES a protein that exhibits dolichyl-phosphate-mannose-protein mannosyltransferase activity (ortholog); mannosyltransferase activity (ortholog); INVOLVED IN positive regulation of protein O-linked glycosylation; basement membrane organization (ortholog); dentate gyrus development (ortholog); PAR ... (more) TICIPATES IN O-linked glycan biosynthetic pathway; ASSOCIATED WITH autism spectrum disorder (ortholog); autosomal recessive limb-girdle muscular dystrophy (ortholog); autosomal recessive limb-girdle muscular dystrophy type 2N (ortholog); FOUND IN dolichyl-phosphate-mannose-protein mannosyltransferase complex (ortholog); endoplasmic reticulum membrane (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; amphetamine; bisphenol A	6	112486416	112525799	Rat	87	symbol , PhenoGen	gene, protein-coding, PROVISIONAL [RefSeq]
8753509	Pomt2	protein O-mannosyltransferase 2	ENCODES a protein that exhibits dolichyl-phosphate-mannose-protein mannosyltransferase activity (ortholog); mannosyltransferase activity (ortholog); INVOLVED IN basement membrane organization (ortholog); dentate gyrus development (ortholog); positive regulation of protein O-linked glycosylation (ort ... (more) holog); ASSOCIATED WITH autism spectrum disorder (ortholog); autosomal recessive limb-girdle muscular dystrophy (ortholog); autosomal recessive limb-girdle muscular dystrophy type 2N (ortholog); FOUND IN dolichyl-phosphate-mannose-protein mannosyltransferase complex (ortholog); endoplasmic reticulum membrane (ortholog)	NW_004955438	1179064	1218860	Chinchilla	30	symbol	gene, protein-coding, MODEL [RefSeq]
11692792	POMT2	protein O-mannosyltransferase 2	ENCODES a protein that exhibits dolichyl-phosphate-mannose-protein mannosyltransferase activity (ortholog); INVOLVED IN basement membrane organization (ortholog); dentate gyrus development (ortholog); positive regulation of protein O-linked glycosylation (ortholog); ASSOCIATED WITH autism spectrum d ... (more) isorder (ortholog); autosomal recessive limb-girdle muscular dystrophy (ortholog); autosomal recessive limb-girdle muscular dystrophy type 2N (ortholog); FOUND IN endoplasmic reticulum membrane (ortholog)	14	57827841	57874100	Bonobo	39	symbol	gene, protein-coding, MODEL [RefSeq]
12137840	POMT2	protein O-mannosyltransferase 2	ENCODES a protein that exhibits dolichyl-phosphate-mannose-protein mannosyltransferase activity (ortholog); INVOLVED IN basement membrane organization (ortholog); dentate gyrus development (ortholog); positive regulation of protein O-linked glycosylation (ortholog); ASSOCIATED WITH autism spectrum d ... (more) isorder (ortholog); autosomal recessive limb-girdle muscular dystrophy (ortholog); autosomal recessive limb-girdle muscular dystrophy type 2N (ortholog); FOUND IN endoplasmic reticulum membrane (ortholog)	8	50091861	50133388	Dog	40	symbol	gene, protein-coding, MODEL [RefSeq]
12718592	Pomt2	protein O-mannosyltransferase 2	ENCODES a protein that exhibits dolichyl-phosphate-mannose-protein mannosyltransferase activity (ortholog); INVOLVED IN basement membrane organization (ortholog); dentate gyrus development (ortholog); positive regulation of protein O-linked glycosylation (ortholog); ASSOCIATED WITH autism spectrum d ... (more) isorder (ortholog); autosomal recessive limb-girdle muscular dystrophy (ortholog); autosomal recessive limb-girdle muscular dystrophy type 2N (ortholog); FOUND IN endoplasmic reticulum membrane (ortholog)	NW_004936488	6102612	6141842	Squirrel	37	symbol	gene, protein-coding, MODEL [RefSeq]
18928147	Pomt2	protein O-mannosyltransferase 2	ENCODES a protein that exhibits dolichyl-phosphate-mannose-protein mannosyltransferase activity (ortholog); INVOLVED IN basement membrane organization (ortholog); dentate gyrus development (ortholog); positive regulation of protein O-linked glycosylation (ortholog); ASSOCIATED WITH autism spectrum d ... (more) isorder (ortholog); autosomal recessive limb-girdle muscular dystrophy (ortholog); autosomal recessive limb-girdle muscular dystrophy type 2N (ortholog); FOUND IN dolichyl-phosphate-mannose-protein mannosyltransferase complex (ortholog); endoplasmic reticulum membrane (ortholog)				Naked Mole-Rat	41	symbol	gene, protein-coding, MODEL [RefSeq]
14258896	POMT2	protein O-mannosyltransferase 2	ENCODES a protein that exhibits dolichyl-phosphate-mannose-protein mannosyltransferase activity (ortholog); INVOLVED IN basement membrane organization (ortholog); dentate gyrus development (ortholog); positive regulation of protein O-linked glycosylation (ortholog); ASSOCIATED WITH autism spectrum d ... (more) isorder (ortholog); autosomal recessive limb-girdle muscular dystrophy (ortholog); autosomal recessive limb-girdle muscular dystrophy type 2N (ortholog); FOUND IN endoplasmic reticulum membrane (ortholog)				Pig	40	symbol	gene, protein-coding, MODEL [RefSeq]
18751108	POMT2	protein O-mannosyltransferase 2	ENCODES a protein that exhibits dolichyl-phosphate-mannose-protein mannosyltransferase activity (ortholog); INVOLVED IN basement membrane organization (ortholog); dentate gyrus development (ortholog); positive regulation of protein O-linked glycosylation (ortholog); ASSOCIATED WITH autism spectrum d ... (more) isorder (ortholog); autosomal recessive limb-girdle muscular dystrophy (ortholog); autosomal recessive limb-girdle muscular dystrophy type 2N (ortholog); FOUND IN endoplasmic reticulum membrane (ortholog)				Green Monkey	39	symbol	gene, protein-coding, MODEL [RefSeq]
626104606	Pomt2	protein O-mannosyltransferase 2	ENCODES a protein that exhibits dolichyl-phosphate-mannose-protein mannosyltransferase activity (ortholog); mannosyltransferase activity (ortholog); INVOLVED IN basement membrane organization (ortholog); dentate gyrus development (ortholog); positive regulation of protein O-linked glycosylation (ort ... (more) holog); ASSOCIATED WITH autism spectrum disorder (ortholog); autosomal recessive limb-girdle muscular dystrophy (ortholog); autosomal recessive limb-girdle muscular dystrophy type 2N (ortholog); FOUND IN dolichyl-phosphate-mannose-protein mannosyltransferase complex (ortholog); endoplasmic reticulum membrane (ortholog)				Black Rat	28	symbol	gene, protein-coding, MODEL [RefSeq]
285961347	pomt2						Tropical Clawed Frog		symbol	gene, null
286522875	pomt2.L						African Clawed Frog		symbol	gene, null
1305447	Sptlc2	serine palmitoyltransferase, long chain base subunit 2	ENCODES a protein that exhibits serine C-palmitoyltransferase activity (ortholog); INVOLVED IN response to immobilization stress; adipose tissue development (ortholog); ceramide biosynthetic process (ortholog); PARTICIPATES IN Fabry disease pathway; Gaucher's disease pathway; Krabbe disease pathway; ... (more) ASSOCIATED WITH Charcot-Marie-Tooth disease (ortholog); COVID-19 (ortholog); genetic disease (ortholog); FOUND IN cytoplasmic side of endoplasmic reticulum membrane (ortholog); serine palmitoyltransferase complex (ortholog); INTERACTS WITH (+)-schisandrin B; 1-benzylpiperazine; 3-chloropropane-1,2-diol	6	112679623	112762470	Rat	162	old_gene_symbol	gene, protein-coding, VALIDATED [RefSeq]
1348575	POMT1	protein O-mannosyltransferase 1	The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walke ... (more) r-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K (LGMD2K). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008]	9	131502918	131523799	Human	581	description	gene, protein-coding, REVIEWED [RefSeq]