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

Gene Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	84899
Gene name Gene Name - the full gene name approved by the HGNC.	Transmembrane O-mannosyltransferase targeting cadherins 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	TMTC4
Synonyms (NCBI Gene) Gene synonyms aliases	DFNB122
Disease Acronyms (UniProt) Disease acronyms from UniProt database	DFNB122
Chromosome Chromosome number	13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	13q32.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a transmembrane protein that belongs to family of proteins containing an N-terminal transmembrane domain and a C-terminal tetratricopeptide repeat (TPR) domain. TPR domains mediate protein-protein interactions in various cellular process

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miRTarBase ID	miRNA	Experiments	Reference
MIRT019834	hsa-miR-375	Microarray	20215506
MIRT024893	hsa-miR-215-5p	Microarray	19074876
MIRT026558	hsa-miR-192-5p	Microarray	19074876
MIRT030539	hsa-miR-24-3p	Sequencing	20371350
MIRT050943	hsa-miR-17-5p	CLASH	23622248
MIRT1441655	hsa-miR-128	CLIP-seq
MIRT1441656	hsa-miR-144	CLIP-seq
MIRT1441657	hsa-miR-27a	CLIP-seq
MIRT1441658	hsa-miR-27b	CLIP-seq
MIRT1441659	hsa-miR-4781-3p	CLIP-seq
MIRT1441660	hsa-miR-513a-5p	CLIP-seq
MIRT1441661	hsa-miR-520d-5p	CLIP-seq
MIRT1441662	hsa-miR-524-5p	CLIP-seq
MIRT1441663	hsa-miR-567	CLIP-seq
MIRT1441664	hsa-miR-1185	CLIP-seq
MIRT1441655	hsa-miR-128	CLIP-seq
MIRT1441656	hsa-miR-144	CLIP-seq
MIRT1441657	hsa-miR-27a	CLIP-seq
MIRT1441658	hsa-miR-27b	CLIP-seq
MIRT1441665	hsa-miR-3173-3p	CLIP-seq
MIRT1441666	hsa-miR-3653	CLIP-seq
MIRT1441667	hsa-miR-3658	CLIP-seq
MIRT1441668	hsa-miR-3679-5p	CLIP-seq
MIRT1441669	hsa-miR-3942-3p	CLIP-seq
MIRT1441670	hsa-miR-4477b	CLIP-seq
MIRT1441671	hsa-miR-4775	CLIP-seq
MIRT1441659	hsa-miR-4781-3p	CLIP-seq
MIRT1441660	hsa-miR-513a-5p	CLIP-seq
MIRT1441661	hsa-miR-520d-5p	CLIP-seq
MIRT1441662	hsa-miR-524-5p	CLIP-seq
MIRT1441672	hsa-miR-548ag	CLIP-seq
MIRT1441673	hsa-miR-548ai	CLIP-seq
MIRT1441663	hsa-miR-567	CLIP-seq
MIRT1441674	hsa-miR-577	CLIP-seq
MIRT1441675	hsa-miR-603	CLIP-seq
MIRT1441676	hsa-miR-616	CLIP-seq
MIRT2132209	hsa-miR-4432	CLIP-seq
MIRT2132210	hsa-miR-499-5p	CLIP-seq
MIRT2132211	hsa-miR-548c-3p	CLIP-seq
MIRT1441675	hsa-miR-603	CLIP-seq
MIRT2353254	hsa-miR-1253	CLIP-seq
MIRT2353255	hsa-miR-216a	CLIP-seq
MIRT2353256	hsa-miR-216b	CLIP-seq
MIRT2353257	hsa-miR-3919	CLIP-seq
MIRT2353258	hsa-miR-421	CLIP-seq
MIRT2353259	hsa-miR-4709-5p	CLIP-seq
MIRT2353260	hsa-miR-4797-5p	CLIP-seq
MIRT2353261	hsa-miR-505	CLIP-seq
MIRT2132211	hsa-miR-548c-3p	CLIP-seq
MIRT2462029	hsa-miR-1294	CLIP-seq
MIRT2462030	hsa-miR-2467-5p	CLIP-seq
MIRT2462031	hsa-miR-3188	CLIP-seq
MIRT2462032	hsa-miR-3975	CLIP-seq
MIRT2462033	hsa-miR-4316	CLIP-seq
MIRT2462034	hsa-miR-4763-5p	CLIP-seq
MIRT2462035	hsa-miR-4774-3p	CLIP-seq
MIRT2462036	hsa-miR-485-5p	CLIP-seq

Show/Hide all(10)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000030	Function	Mannosyltransferase activity	IMP	28973932
GO:0004169	Function	Dolichyl-phosphate-mannose-protein mannosyltransferase activity	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	30188326
GO:0007605	Process	Sensory perception of sound	IEA
GO:0016021	Component	Integral component of membrane	IEA
GO:0030968	Process	Endoplasmic reticulum unfolded protein response	IEA
GO:0032470	Process	Positive regulation of endoplasmic reticulum calcium ion concentration	IEA
GO:0035269	Process	Protein O-linked mannosylation	IMP	28973932
GO:0051117	Function	ATPase binding	IPI	30188326
GO:1905584	Process	Outer hair cell apoptotic process	IEA

MIM	HGNC	e!Ensembl
618203	25904	ENSG00000125247

Protein

UniProt ID

Q5T4D3

Protein name

Protein O-mannosyl-transferase TMTC4 (EC 2.4.1.109) (Transmembrane O-mannosyltransferase targeting cadherins 4) (Transmembrane and tetratricopeptide repeat-containing 4)

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	292 → 366	Domain of unknown function (DUF1736)	Family
PF13432	TPR_16	486 → 548		Family
PF13432	TPR_16	588 → 652		Family
PF13432	TPR_16	656 → 720		Family

Sequence

MAVLDTDLDHILPSSVLPPFWAKLVVGSVAIVCFARSYDGDFVFDDSEAIVNNKDLQAET
PLGDLWHHDFWGSRLSSNTSHKSYRPLTVLTFRINYYLSGGFHPVGFHVVNILLHSGISV
LMVDVFSVLFGGLQYTSKGRRLHLAPRASLLAALLFAVHPVHTECVAGVVGRADLLCALF
FLLSFLGYCKAFRESNKEGAHSSTFWVLLSIFLGAVAMLCKEQGITVLGLNAVFDILVIG
KFNVLEIVQKVLHKDKSLENLGMLRNGGLLFRMTLLTSGGAGMLYVRWRIMGTGPPAFTE
VDNPASFADSMLVRAVNYNYYYSLNAWLLLCPWWLCFDWSMGCIPLIKSISDWRVIALAA
LWFCLIGLICQALCSEDGHKRRILTLGLGFLVIPFLPASNLFFRVGFVVAERVLYLPSVG
YCVLLTFGFGALSKHTKKKKLIAAVVLGILFINTLRCVLRSGEWRSEEQLFRSALSVCPL
NAKVHYNIGKNLADKGNQTAAIRYYREAVRLNPKYVHAMNNLGNILKERNELQEAEELLS
LAVQIQPDFAAAWMNLGIVQNSLKRFEAAEQSYRTAIKHRRKYPDCYYNLGRLYADLNRH
VDALNAWRNATVLKPEHSLAWNNMIILLDNTGNLAQAEAVGREALELIPNDHSLMFSLAN
VLGKSQKYKESEALFLKAIKANPNAASYHGNLAVLYHRWGHLDLAKKHYEISLQLDPTAS
GTKENYGLLRRKLELMQKKAV

Sequence length

741

Interactions

View interactions

Show/Hide Causal Diseases (1)

Disease term	Disease name	dbSNP ID	References
Causal
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158 View all (309 more)

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Psoriasis	Psoriasis			GWAS

Show/Hide Text Mining Associations (1)

Disease Name	Relationship Type	References
Associations from Text Mining
Prostatic Neoplasms	Associate	33925440

TMTC4 (transmembrane O-mannosyltransferase targeting cadherins 4)