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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	29954
Gene name Gene Name - the full gene name approved by the HGNC.	Protein O-mannosyltransferase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	POMT2
Synonyms (NCBI Gene) Gene synonyms aliases	LGMD2N, LGMDR14, MDDGA2, MDDGB2, MDDGC2
Chromosome Chromosome number	14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	14q24.3
Summary Summary of gene provided in NCBI Entrez Gene.	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 o

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SNP ID	Visualize variation	Clinical significance	Consequence
rs117173425	T>C	Benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs119463989	G>A,T	Pathogenic, likely-benign	Stop gained, coding sequence variant, synonymous variant, non coding transcript variant
rs141193672	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs141339355	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs142299878	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs142479943	T>C,G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, non coding transcript variant
rs144748043	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, intron variant, non coding transcript variant
rs147845081	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, intron variant, non coding transcript variant
rs147871747	G>A,C,T	Uncertain-significance, pathogenic, likely-benign	Stop gained, synonymous variant, coding sequence variant, non coding transcript variant, intron variant, missense variant
rs150491326	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs151051452	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs190285831	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs200163818	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, missense variant
rs200198778	T>C	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs267606963	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs267606964	A>G	Pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs267606965	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs267606966	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs267606967	C>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs267606968	C>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs267606969	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs267606970	C>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs267606971	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs267606972	A>T	Not-provided, pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs368817785	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs533916138	C>T	Pathogenic	Splice donor variant, intron variant
rs554801559	T>C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs587777815	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs587780422	C>T	Likely-pathogenic, uncertain-significance	Intron variant
rs587780423	T>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, intron variant
rs727502855	G>A,C	Likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs727502857	C>A	Pathogenic	Splice donor variant
rs727503873	T>C	Pathogenic	Splice acceptor variant
rs747493997	T>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs755660222	C>-	Pathogenic	Intron variant, frameshift variant, non coding transcript variant, coding sequence variant
rs759220971	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs764210532	AT>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs764878423	G>T	Pathogenic	Stop gained, intron variant, non coding transcript variant, coding sequence variant
rs765276419	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, intron variant, non coding transcript variant, coding sequence variant, missense variant
rs766169193	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs774412117	G>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs775932206	G>A	Pathogenic	Intron variant, stop gained, non coding transcript variant, coding sequence variant
rs780725241	->G	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs781093215	TACT>-	Conflicting-interpretations-of-pathogenicity	Intron variant, splice donor variant, non coding transcript variant, coding sequence variant
rs786205625	G>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs794727127	T>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs797045898	CTAGG>TCA	Pathogenic	Intron variant, splice acceptor variant
rs886042094	GCCATCCG>C,G	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs886042401	->TG	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs886043110	->T	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs886044256	T>C,G	Pathogenic	Intron variant, splice acceptor variant
rs953851097	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs1026361359	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs1060499766	A>C	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1064796019	C>-	Pathogenic	Intron variant, splice donor variant
rs1085307985	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1185491348	CT>-	Likely-pathogenic	Splice acceptor variant
rs1229291913	->C	Likely-pathogenic	Splice acceptor variant, coding sequence variant, non coding transcript variant
rs1452558347	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1555351849	CT>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555351889	TC>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555351894	GT>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555352706	->G	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1566656247	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, intron variant, frameshift variant
rs1594796439	A>-	Pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT041610	hsa-miR-146b-5p	CLASH	23622248
MIRT470634	hsa-miR-5190	PAR-CLIP	23592263
MIRT470633	hsa-miR-219b-3p	PAR-CLIP	23592263
MIRT470632	hsa-miR-542-3p	PAR-CLIP	23592263
MIRT470634	hsa-miR-5190	PAR-CLIP	23592263
MIRT470633	hsa-miR-219b-3p	PAR-CLIP	23592263
MIRT470632	hsa-miR-542-3p	PAR-CLIP	23592263
MIRT1250064	hsa-miR-1184	CLIP-seq
MIRT1250065	hsa-miR-1197	CLIP-seq
MIRT1250066	hsa-miR-1207-3p	CLIP-seq
MIRT1250067	hsa-miR-1288	CLIP-seq
MIRT1250068	hsa-miR-1321	CLIP-seq
MIRT1250069	hsa-miR-1343	CLIP-seq
MIRT1250070	hsa-miR-145	CLIP-seq
MIRT1250071	hsa-miR-149	CLIP-seq
MIRT1250072	hsa-miR-1976	CLIP-seq
MIRT1250073	hsa-miR-198	CLIP-seq
MIRT738959	hsa-miR-221	CLIP-seq
MIRT738958	hsa-miR-222	CLIP-seq
MIRT1250074	hsa-miR-2467-3p	CLIP-seq
MIRT1250075	hsa-miR-2682	CLIP-seq
MIRT1250076	hsa-miR-2964a-3p	CLIP-seq
MIRT738969	hsa-miR-302a	CLIP-seq
MIRT738971	hsa-miR-302b	CLIP-seq
MIRT738960	hsa-miR-302c	CLIP-seq
MIRT738968	hsa-miR-302d	CLIP-seq
MIRT738970	hsa-miR-302e	CLIP-seq
MIRT1250077	hsa-miR-3126-5p	CLIP-seq
MIRT1250078	hsa-miR-3137	CLIP-seq
MIRT1250079	hsa-miR-3153	CLIP-seq
MIRT1250080	hsa-miR-3169	CLIP-seq
MIRT1250081	hsa-miR-3201	CLIP-seq
MIRT1250082	hsa-miR-3616-3p	CLIP-seq
MIRT1250083	hsa-miR-3689a-3p	CLIP-seq
MIRT1250084	hsa-miR-3689c	CLIP-seq
MIRT1250085	hsa-miR-3692	CLIP-seq
MIRT738967	hsa-miR-372	CLIP-seq
MIRT738966	hsa-miR-373	CLIP-seq
MIRT1250086	hsa-miR-4252	CLIP-seq
MIRT1250087	hsa-miR-4267	CLIP-seq
MIRT1250088	hsa-miR-4274	CLIP-seq
MIRT1250089	hsa-miR-4419a	CLIP-seq
MIRT1250090	hsa-miR-4423-3p	CLIP-seq
MIRT1250091	hsa-miR-4436b-3p	CLIP-seq
MIRT1250092	hsa-miR-4448	CLIP-seq
MIRT1250093	hsa-miR-4468	CLIP-seq
MIRT738972	hsa-miR-4480	CLIP-seq
MIRT1250094	hsa-miR-449c	CLIP-seq
MIRT1250095	hsa-miR-4510	CLIP-seq
MIRT1250096	hsa-miR-4519	CLIP-seq
MIRT1250097	hsa-miR-4646-5p	CLIP-seq
MIRT1250098	hsa-miR-4668-5p	CLIP-seq
MIRT1250099	hsa-miR-4691-3p	CLIP-seq
MIRT1250100	hsa-miR-4728-5p	CLIP-seq
MIRT1250101	hsa-miR-4739	CLIP-seq
MIRT1250102	hsa-miR-4742-3p	CLIP-seq
MIRT1250103	hsa-miR-4743	CLIP-seq
MIRT1250104	hsa-miR-4747-5p	CLIP-seq
MIRT1250105	hsa-miR-4756-5p	CLIP-seq
MIRT738956	hsa-miR-4786-3p	CLIP-seq
MIRT1250106	hsa-miR-4791	CLIP-seq
MIRT1250107	hsa-miR-4792	CLIP-seq
MIRT1250108	hsa-miR-516a-3p	CLIP-seq
MIRT738964	hsa-miR-520a-3p	CLIP-seq
MIRT738961	hsa-miR-520b	CLIP-seq
MIRT738962	hsa-miR-520c-3p	CLIP-seq
MIRT738963	hsa-miR-520d-3p	CLIP-seq
MIRT738965	hsa-miR-520e	CLIP-seq
MIRT1250109	hsa-miR-548aa	CLIP-seq
MIRT738957	hsa-miR-548v	CLIP-seq
MIRT1250110	hsa-miR-602	CLIP-seq
MIRT1250111	hsa-miR-630	CLIP-seq
MIRT1250112	hsa-miR-637	CLIP-seq
MIRT1250113	hsa-miR-760	CLIP-seq
MIRT1250114	hsa-miR-935	CLIP-seq
MIRT1250115	hsa-miR-940	CLIP-seq
MIRT2073823	hsa-miR-1193	CLIP-seq
MIRT1250066	hsa-miR-1207-3p	CLIP-seq
MIRT2073824	hsa-miR-1278	CLIP-seq
MIRT1250069	hsa-miR-1343	CLIP-seq
MIRT1250070	hsa-miR-145	CLIP-seq
MIRT2073825	hsa-miR-1972	CLIP-seq
MIRT1250073	hsa-miR-198	CLIP-seq
MIRT2073826	hsa-miR-2115	CLIP-seq
MIRT2073827	hsa-miR-3117-5p	CLIP-seq
MIRT1250078	hsa-miR-3137	CLIP-seq
MIRT1250079	hsa-miR-3153	CLIP-seq
MIRT1250081	hsa-miR-3201	CLIP-seq
MIRT2073828	hsa-miR-3622b-5p	CLIP-seq
MIRT1250085	hsa-miR-3692	CLIP-seq
MIRT2073829	hsa-miR-3913-3p	CLIP-seq
MIRT2073830	hsa-miR-425	CLIP-seq
MIRT2073831	hsa-miR-4253	CLIP-seq
MIRT1250088	hsa-miR-4274	CLIP-seq
MIRT2073832	hsa-miR-4290	CLIP-seq
MIRT1250093	hsa-miR-4468	CLIP-seq
MIRT1250096	hsa-miR-4519	CLIP-seq
MIRT2073833	hsa-miR-4645-5p	CLIP-seq
MIRT1250097	hsa-miR-4646-5p	CLIP-seq
MIRT1250098	hsa-miR-4668-5p	CLIP-seq
MIRT2073834	hsa-miR-4673	CLIP-seq
MIRT2073835	hsa-miR-4712-5p	CLIP-seq
MIRT1250102	hsa-miR-4742-3p	CLIP-seq
MIRT1250103	hsa-miR-4743	CLIP-seq
MIRT2073836	hsa-miR-4755-3p	CLIP-seq
MIRT1250106	hsa-miR-4791	CLIP-seq
MIRT2073837	hsa-miR-489	CLIP-seq
MIRT2073838	hsa-miR-512-5p	CLIP-seq
MIRT2073839	hsa-miR-515-5p	CLIP-seq
MIRT1250108	hsa-miR-516a-3p	CLIP-seq
MIRT1250110	hsa-miR-602	CLIP-seq
MIRT1250111	hsa-miR-630	CLIP-seq
MIRT2073840	hsa-miR-770-5p	CLIP-seq
MIRT1250114	hsa-miR-935	CLIP-seq
MIRT2300662	hsa-miR-150	CLIP-seq
MIRT2073825	hsa-miR-1972	CLIP-seq
MIRT2300663	hsa-miR-3157-3p	CLIP-seq
MIRT2300664	hsa-miR-3620	CLIP-seq
MIRT2073828	hsa-miR-3622b-5p	CLIP-seq
MIRT2300665	hsa-miR-3689d	CLIP-seq
MIRT2300666	hsa-miR-3909	CLIP-seq
MIRT2300667	hsa-miR-3921	CLIP-seq
MIRT2300668	hsa-miR-3928	CLIP-seq
MIRT2300669	hsa-miR-3945	CLIP-seq
MIRT2300670	hsa-miR-3973	CLIP-seq
MIRT2300671	hsa-miR-4251	CLIP-seq
MIRT2073831	hsa-miR-4253	CLIP-seq
MIRT2073832	hsa-miR-4290	CLIP-seq
MIRT2300672	hsa-miR-4312	CLIP-seq
MIRT2300673	hsa-miR-4329	CLIP-seq
MIRT2300674	hsa-miR-4530	CLIP-seq
MIRT2073833	hsa-miR-4645-5p	CLIP-seq
MIRT2300675	hsa-miR-4653-5p	CLIP-seq
MIRT2073834	hsa-miR-4673	CLIP-seq
MIRT2300676	hsa-miR-4713-5p	CLIP-seq
MIRT2300677	hsa-miR-4731-5p	CLIP-seq
MIRT2300678	hsa-miR-4768-3p	CLIP-seq
MIRT2300679	hsa-miR-4796-3p	CLIP-seq
MIRT2300680	hsa-miR-4802-5p	CLIP-seq
MIRT1250108	hsa-miR-516a-3p	CLIP-seq
MIRT2300681	hsa-miR-520g	CLIP-seq
MIRT2300682	hsa-miR-520h	CLIP-seq
MIRT2300683	hsa-miR-532-3p	CLIP-seq
MIRT2300684	hsa-miR-665	CLIP-seq
MIRT2300685	hsa-miR-765	CLIP-seq
MIRT2300686	hsa-miR-874	CLIP-seq
MIRT2392842	hsa-miR-185	CLIP-seq
MIRT2392843	hsa-miR-4306	CLIP-seq
MIRT2392844	hsa-miR-4474-5p	CLIP-seq
MIRT2392845	hsa-miR-4644	CLIP-seq
MIRT2392846	hsa-miR-516b	CLIP-seq
MIRT2597531	hsa-miR-1539	CLIP-seq
MIRT2597532	hsa-miR-3183	CLIP-seq
MIRT2597533	hsa-miR-3197	CLIP-seq
MIRT2597534	hsa-miR-331-3p	CLIP-seq
MIRT2597535	hsa-miR-3605-3p	CLIP-seq
MIRT2597536	hsa-miR-3907	CLIP-seq
MIRT2300666	hsa-miR-3909	CLIP-seq
MIRT1250089	hsa-miR-4419a	CLIP-seq
MIRT1250095	hsa-miR-4510	CLIP-seq
MIRT2597537	hsa-miR-4690-3p	CLIP-seq
MIRT2597538	hsa-miR-4723-3p	CLIP-seq
MIRT2597531	hsa-miR-1539	CLIP-seq
MIRT2597534	hsa-miR-331-3p	CLIP-seq
MIRT1250089	hsa-miR-4419a	CLIP-seq
MIRT1250095	hsa-miR-4510	CLIP-seq
MIRT2597537	hsa-miR-4690-3p	CLIP-seq

Show/Hide all(22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000030	Function	Mannosyltransferase activity	IEA
GO:0000030	Function	Mannosyltransferase activity	IMP	28512129
GO:0004169	Function	Dolichyl-phosphate-mannose-protein mannosyltransferase activity	IBA
GO:0004169	Function	Dolichyl-phosphate-mannose-protein mannosyltransferase activity	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IDA
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005829	Component	Cytosol	IDA
GO:0006486	Process	Protein glycosylation	IEA
GO:0006493	Process	Protein O-linked glycosylation	IEA
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0021542	Process	Dentate gyrus development	IEA
GO:0035269	Process	Protein O-linked glycosylation via mannose	IBA
GO:0035269	Process	Protein O-linked glycosylation via mannose	IMP	28512129
GO:0046872	Function	Metal ion binding	IEA
GO:0071711	Process	Basement membrane organization	IEA
GO:0150103	Process	Reactive gliosis	IEA

MIM	HGNC	e!Ensembl
607439	19743	ENSG00000009830

Protein

UniProt ID

Q9UKY4

Protein name

Protein O-mannosyl-transferase 2 (EC 2.4.1.109) (Dolichyl-phosphate-mannose--protein mannosyltransferase 2)

Protein function

Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both POMT1 and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficient (PubMed:14699049, PubMed:28512129

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02366	PMT	62 → 306	Dolichyl-phosphate-mannose-protein mannosyltransferase	Family
PF02815	MIR	353 → 514	MIR domain	Domain
PF16192	PMT_4TMC	538 → 748	C-terminal four TMM region of protein-O-mannosyltransferase	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in testis; detected at low levels in most tissues.

Sequence

MPPATGGGLAESELRPRRGRCGPQAARAAGRDVAAEAVARSPKRPAWGSRRFEAVGWWAL
LALVTLLSFATRFHRLDEPPHICWDETHFGKMGSYYINRTFFFDVHPPLGKMLIGLAGYL
SGYDGTFLFQKPGDKYEHHSYMGMRGFCAFLGSWLVPFAYLTVLDLSKSLSAALLTAALL
TFDTGCLTLSQYILLDPILMFFIMAAMLSMVKYNSCADRPFSAPWWFWLSLTGVSLAGAL
GVKFVGLFIILQVGLNTIADLWYLFGDLSLSLVTVGKHLTARVLCLIVLPLALYTATFAV
HFMVLSKSGPGDGFFSSAFQARLSGNNLHNASIPEHLAYGSVITVKNLRMAIGYLHSHRH
LYPEGIGARQQQVTTYLHKDYNNLWIIKKHNTNSDPLDPSFPVEFVRHGDIIRLEHKETS
RNLHSHYHEAPMTRKHYQVTGYGINGTGDSNDFWRIEVVNRKFGNRIKVLRSRIRFIHLV
TGCVLGSSGKVLPKWGWEQLEVTCTPYLKETLNSIWNVEDHINPKLPNISLDVLQPSFPE
ILLESHMVMIRGNSGLKPKDNEFTSKPWHWPINYQGLRFSGVNDTDFRVYLLGNPVVWWL
NLLSIALYLLSGSIIAVAMQRGARLPAEVAGLSQVLLRGGGQVLLGWTLHYFPFFLMGRV
LYFHHYFPAMLFSSMLTGILWDTLLRLCAWGLASWPLARGIHVAGILSLLLGTAYSFYLF
HPLAYGMVGPLAQDPQSPMAGLRWLDSWDF

Sequence length

750

Interactions

View interactions

	KEGG		Reactome
	Other types of O-glycan biosynthesis Mannose type O-glycan biosynthesis Metabolic pathways		Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2 Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1 O-linked glycosylation

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
Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2, Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies	rs267606969, rs267606963, rs780725241, rs267606964, rs267606965, rs886043110, rs119463989, rs267606966, rs766169193, rs533916138, rs1555356398, rs587777815, rs1326631351, rs200198778, rs267606970, rs587777816, rs918556979 View all (2 more)	N/A
Limb-girdle muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2N	rs587780423, rs1229291913, rs267606971, rs267606967	N/A
Muscular dystrophy	muscular dystrophy	rs1594796439, rs797045898, rs755660222, rs1555352706, rs961440747, rs200198778, rs1185491348	N/A

Show/Hide Unknown Diseases (2)

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.
congenital muscular dystrophy	Congenital muscular dystrophy	N/A	N/A	ClinVar
Myopathy	myopathy caused by variation in POMT2	N/A	N/A	GenCC

Show/Hide Text Mining Associations (28)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Acute Disease	Associate	29101272
Agenesis of Corpus Callosum	Associate	17634419
Aortic Root Aneurysm	Associate	24002165
Breast Neoplasms	Associate	30760814
Cardiomyopathy Dilated	Associate	24002165
Cardiovascular Abnormalities	Associate	17634419, 24002165
Cognitive Dysfunction	Associate	34565739
Craniometaphyseal Dysplasia Autosomal Dominant	Associate	17634419
Developmental Disabilities	Associate	18804929
Exercise Induced Allergies	Associate	34565739
Heart Diseases	Associate	24002165
Heart Rupture	Associate	24002165
Hydrocephalus	Associate	35595449
Intellectual Disability	Associate	17634419, 24002165, 34565739
Microcephaly	Associate	17634419
Muscle Weakness	Associate	17634419, 30060766
Muscular Diseases	Associate	34565739
Muscular Dystrophies	Associate	17634419, 18804929, 24002165
Muscular Dystrophies Limb Girdle	Associate	24002165, 29759639
Muscular dystrophy congenital with central nervous system involvement	Associate	34565739
Neoplasms	Associate	30760814
Respiratory Insufficiency	Associate	22727687
Spinocerebellar Ataxia 29	Associate	17634419
Uniparental Disomy	Associate	29759639
Urinary Bladder Neoplasms	Associate	40312703
Ventricular Dysfunction Left	Associate	24002165
von Willebrand Disease Type 2	Associate	34565739
Walker Warburg Syndrome	Associate	15894594, 17634419, 18752264, 18804929, 19266496, 23217329, 24002165, 29101272, 29759639, 30060766, 32115343, 34565739

POMT2 (protein O-mannosyltransferase 2)