TMTC4 (transmembrane O-mannosyltransferase targeting cadherins 4)

Gene

• Entrez ID: 84899
• Gene name: Transmembrane O-mannosyltransferase targeting cadherins 4
• Gene symbol: TMTC4
• Synonyms: DFNB122
• Chromosome: 13
• Chromosome location: 13q32.3
• Summary: 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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 618203
• HGNC: 25904
• e!Ensembl: 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

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243