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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	160335
Gene name	Transmembrane O-mannosyltransferase targeting cadherins 2
Gene symbol	TMTC2
Synonyms (NCBI Gene)	IBDBP1
Chromosome	12
Chromosome location	12q21.31
Summary	The protein encoded by this gene is an integral membrane protein localized to the endoplasmic reticulum (ER). The encoded protein contains many tetratricopeptide repeats, sequences known for being involved in protein-protein interactions. This protein bin

146

Show/Hide all (146)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019093	hsa-miR-335-5p	Microarray	18185580
MIRT023168	hsa-miR-124-3p	Microarray	18668037
MIRT024810	hsa-miR-215-5p	Microarray	19074876
MIRT026937	hsa-miR-192-5p	Microarray	19074876
MIRT639562	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT639561	hsa-miR-623	HITS-CLIP	23824327
MIRT639560	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT639559	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT639558	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT639557	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT639562	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT647607	hsa-miR-4251	HITS-CLIP	23824327
MIRT647606	hsa-miR-4329	HITS-CLIP	23824327
MIRT647605	hsa-miR-6761-5p	HITS-CLIP	23824327
MIRT647604	hsa-miR-1253	HITS-CLIP	23824327
MIRT647603	hsa-miR-6770-5p	HITS-CLIP	23824327
MIRT639561	hsa-miR-623	HITS-CLIP	23824327
MIRT639560	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT639559	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT639558	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT639557	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT639563	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT639562	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT639561	hsa-miR-623	HITS-CLIP	23824327
MIRT639560	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT639559	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT639558	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT639557	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT496888	hsa-miR-561-3p	PAR-CLIP	22291592
MIRT496887	hsa-miR-4470	PAR-CLIP	22291592
MIRT639562	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT639561	hsa-miR-623	HITS-CLIP	23824327
MIRT639560	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT639559	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT639558	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT639557	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT639562	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT647607	hsa-miR-4251	HITS-CLIP	23824327
MIRT647606	hsa-miR-4329	HITS-CLIP	23824327
MIRT647605	hsa-miR-6761-5p	HITS-CLIP	23824327
MIRT647604	hsa-miR-1253	HITS-CLIP	23824327
MIRT647603	hsa-miR-6770-5p	HITS-CLIP	23824327
MIRT639561	hsa-miR-623	HITS-CLIP	23824327
MIRT639560	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT639559	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT639558	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT639557	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT639563	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT639562	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT639561	hsa-miR-623	HITS-CLIP	23824327
MIRT639560	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT639559	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT639558	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT639557	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT496888	hsa-miR-561-3p	PAR-CLIP	22291592
MIRT496887	hsa-miR-4470	PAR-CLIP	22291592
MIRT1441514	hsa-miR-1275	CLIP-seq
MIRT1441515	hsa-miR-1285	CLIP-seq
MIRT1441516	hsa-miR-1913	CLIP-seq
MIRT1441517	hsa-miR-2114	CLIP-seq
MIRT1441518	hsa-miR-2355-5p	CLIP-seq
MIRT1441519	hsa-miR-2392	CLIP-seq
MIRT1441520	hsa-miR-3120-3p	CLIP-seq
MIRT1441521	hsa-miR-3163	CLIP-seq
MIRT1441522	hsa-miR-3187-5p	CLIP-seq
MIRT1441523	hsa-miR-324-3p	CLIP-seq
MIRT1441524	hsa-miR-3605-5p	CLIP-seq
MIRT1441525	hsa-miR-365	CLIP-seq
MIRT1441526	hsa-miR-3681	CLIP-seq
MIRT1441527	hsa-miR-3914	CLIP-seq
MIRT1441528	hsa-miR-4260	CLIP-seq
MIRT1441529	hsa-miR-4275	CLIP-seq
MIRT1441530	hsa-miR-4320	CLIP-seq
MIRT1441531	hsa-miR-4525	CLIP-seq
MIRT1441532	hsa-miR-4665-5p	CLIP-seq
MIRT1441533	hsa-miR-4668-5p	CLIP-seq
MIRT1441534	hsa-miR-4694-3p	CLIP-seq
MIRT1441535	hsa-miR-4723-5p	CLIP-seq
MIRT1441536	hsa-miR-4753-5p	CLIP-seq
MIRT1441537	hsa-miR-4796-3p	CLIP-seq
MIRT1441538	hsa-miR-4802-5p	CLIP-seq
MIRT1441539	hsa-miR-520g	CLIP-seq
MIRT1441540	hsa-miR-520h	CLIP-seq
MIRT1441541	hsa-miR-545	CLIP-seq
MIRT1441542	hsa-miR-548c-3p	CLIP-seq
MIRT1441543	hsa-miR-612	CLIP-seq
MIRT1441544	hsa-miR-625	CLIP-seq
MIRT1441545	hsa-miR-765	CLIP-seq
MIRT2132109	hsa-miR-1301	CLIP-seq
MIRT2132110	hsa-miR-136	CLIP-seq
MIRT2132111	hsa-miR-155	CLIP-seq
MIRT1441517	hsa-miR-2114	CLIP-seq
MIRT2132112	hsa-miR-221	CLIP-seq
MIRT2132113	hsa-miR-222	CLIP-seq
MIRT1441518	hsa-miR-2355-5p	CLIP-seq
MIRT2132114	hsa-miR-25	CLIP-seq
MIRT2132115	hsa-miR-298	CLIP-seq
MIRT2132116	hsa-miR-32	CLIP-seq
MIRT2132117	hsa-miR-3611	CLIP-seq
MIRT2132118	hsa-miR-3614-5p	CLIP-seq
MIRT2132119	hsa-miR-363	CLIP-seq
MIRT2132120	hsa-miR-367	CLIP-seq
MIRT2132121	hsa-miR-3671	CLIP-seq
MIRT2132122	hsa-miR-4660	CLIP-seq
MIRT1441536	hsa-miR-4753-5p	CLIP-seq
MIRT2132123	hsa-miR-4789-3p	CLIP-seq
MIRT2132124	hsa-miR-485-3p	CLIP-seq
MIRT2132125	hsa-miR-494	CLIP-seq
MIRT2132126	hsa-miR-5047	CLIP-seq
MIRT2132127	hsa-miR-548v	CLIP-seq
MIRT2132128	hsa-miR-574-5p	CLIP-seq
MIRT2132129	hsa-miR-584	CLIP-seq
MIRT2132130	hsa-miR-607	CLIP-seq
MIRT2132131	hsa-miR-642b	CLIP-seq
MIRT2132132	hsa-miR-92a	CLIP-seq
MIRT2132133	hsa-miR-92b	CLIP-seq
MIRT1441517	hsa-miR-2114	CLIP-seq
MIRT1441518	hsa-miR-2355-5p	CLIP-seq
MIRT2353233	hsa-miR-331-5p	CLIP-seq
MIRT2353234	hsa-miR-3660	CLIP-seq
MIRT2353235	hsa-miR-4256	CLIP-seq
MIRT2353236	hsa-miR-4526	CLIP-seq
MIRT1441536	hsa-miR-4753-5p	CLIP-seq
MIRT2132123	hsa-miR-4789-3p	CLIP-seq
MIRT2132124	hsa-miR-485-3p	CLIP-seq
MIRT2353237	hsa-miR-514	CLIP-seq
MIRT2353238	hsa-miR-514b-3p	CLIP-seq
MIRT2132128	hsa-miR-574-5p	CLIP-seq
MIRT2132131	hsa-miR-642b	CLIP-seq
MIRT2353239	hsa-miR-660	CLIP-seq
MIRT2396089	hsa-miR-4255	CLIP-seq
MIRT2646825	hsa-miR-3143	CLIP-seq
MIRT2646826	hsa-miR-34b	CLIP-seq
MIRT2646827	hsa-miR-543	CLIP-seq
MIRT2693592	hsa-miR-141	CLIP-seq
MIRT2693593	hsa-miR-200a	CLIP-seq
MIRT2693594	hsa-miR-3140-5p	CLIP-seq
MIRT2693595	hsa-miR-34c-3p	CLIP-seq
MIRT2693596	hsa-miR-3676	CLIP-seq
MIRT2693597	hsa-miR-4469	CLIP-seq
MIRT2693598	hsa-miR-4655-3p	CLIP-seq
MIRT2693599	hsa-miR-4659a-5p	CLIP-seq
MIRT2693600	hsa-miR-4659b-5p	CLIP-seq
MIRT2693601	hsa-miR-4776-3p	CLIP-seq
MIRT2693602	hsa-miR-4790-3p	CLIP-seq
MIRT2693603	hsa-miR-483-3p	CLIP-seq

Show/Hide all (14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000030	Function	Mannosyltransferase activity	IBA
GO:0004169	Function	Dolichyl-phosphate-mannose-protein mannosyltransferase activity	IEA
GO:0004169	Function	Dolichyl-phosphate-mannose-protein mannosyltransferase activity	IMP	28973932
GO:0005515	Function	Protein binding	IPI	24764305
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	24764305
GO:0006486	Process	Protein glycosylation	IEA
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0035269	Process	Protein O-linked glycosylation via mannose	IBA
GO:0035269	Process	Protein O-linked glycosylation via mannose	IMP	28973932
GO:0055074	Process	Calcium ion homeostasis	IMP	24764305

MIM	HGNC	e!Ensembl
615856	25440	ENSG00000179104

Q8N394

Protein name

Protein O-mannosyl-transferase TMTC2 (EC 2.4.1.109) (Transmembrane O-mannosyltransferase targeting cadherins 2) (Transmembrane and tetratricopeptide repeat-containing 2)

Protein function

Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. The 4 members of the TMTC family are O-mannosyl-transferases dedicated primarily to the cadherin superfamily, each member seems to have a distinct role in decorat

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08409	DUF1736	247 → 321	Domain of unknown function (DUF1736)	Family
PF13181	TPR_8	493 → 526	Tetratricopeptide repeat	Repeat
PF13181	TPR_8	527 → 560	Tetratricopeptide repeat	Repeat
PF13424	TPR_12	559 → 637		Repeat
PF13181	TPR_8	677 → 710	Tetratricopeptide repeat	Repeat
PF00515	TPR_1	779 → 812	Tetratricopeptide repeat	Repeat

Sequence

MIAELVSSALGLALYLNTLSADFCYDDSRAIKTNQDLLPETPWTHIFYNDFWGTLLTHSG
SHKSYRPLCTLSFRLNHAIGGLNPWSYHLVNVLLHAAVTGLFTSFSKILLGDGYWTFMAG
LMFASHPIHTEAVAGIVGRADVGASLFFLLSLLCYIKHCSTRGYSARTWGWFLGSGLCAG
CSMLWKEQGVTVLAVSAVYDVFVFHRLKIKQILPTIYKRKNLSLFLSISLLIFWGSSLLG
ARLYWMGNKPPSFSNSDNPAADSDSLLTRTLTFFYLPTKNLWLLLCPDTLSFDWSMDAVP
LLKTVCDWRNLHTVAFYTGLLLLAYYGLKSPSVDRECNGKTVTNGKQNANGHSCLSDVEY
QNSETKSSFASKVENGIKNDVSQRTQLPSTENIVVLSLSLLIIPFVPATNLFFYVGFVIA
ERVLYIPSMGFCLLITVGARALYVKVQKRFLKSLIFYATATLIVFYGLKTAIRNGDWQNE
EMLYRSGIKVNPAKAWGNLGNVLKSQSKISEAESAYRNALYYRSNMADMLYNLGLLLQEN
SRFAEALHYYKLAIGSRPTLASAYLNTGIILMNQGRTEEARRTFLKCSEIPDENLKDPHA
HKSSVTSCLYNLGKLYHEQGHYEEALSVYKEAIQKMPRQFAPQSLYNMMGEAYMRLSKLP
EAEHWYMESLRSKTDHIPAHLTYGKLLALTGRKSEAEKLFLKAIELDPTKGNCYMHYGQF
LLEEARLIEAAEMAKKAAELDSTEFDVVFNAAHMLRQASLNEAAEKYYDLAARLRPNYPA
ALMNLGAILHLNGRLQKAEANYLRALQLKPDDVITQSNLRKLWNIMEKQGLKTSKT

Sequence length

836

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)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	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.
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ANEURYSM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TMTC2-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (14)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Asthma	Asthma	BEFREE	26542096		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Auditory neuropathy spectrum disorder	Auditory neuropathy	BEFREE	29671961		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deaf Mutism	Deafness	CTD_human_DG	27311106		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness, Acquired	Deafness	CTD_human_DG	27311106		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	26542096		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	28930887		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	22773901, 28930887		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	27311106	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Low Tension Glaucoma	Low Tension Glaucoma	BEFREE	28930887		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	CLINGEN_DG	27311106		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	30665415	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prelingual Deafness	Deafness	CTD_human_DG	27311106		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	39251997	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	29671961		★★★★★ ★☆☆☆☆ Found in Text Mining only

TMTC2 (transmembrane O-mannosyltransferase targeting cadherins 2)