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
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

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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:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	30188326
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0006486	Process	Protein glycosylation	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030968	Process	Endoplasmic reticulum unfolded protein response	IBA
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 glycosylation via mannose	IBA
GO:0035269	Process	Protein O-linked glycosylation via mannose	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 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.
Psoriasis	Psoriasis	N/A	N/A	GWAS

Show/Hide Text Mining Associations (1)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Prostatic Neoplasms	Associate	33925440

TMTC4 (transmembrane O-mannosyltransferase targeting cadherins 4)