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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	54084
Gene name	Thrombospondin type laminin G domain and EAR repeats
Gene symbol	TSPEAR
Synonyms (NCBI Gene)	C21orf29DFNB98ECTD14STHAG10TSP-EAR
Chromosome	21
Chromosome location	21q22.3
Summary	This gene encodes a protein that contains a N-terminal thrombospondin-type laminin G domain and several tandem arranged epilepsy-associated repeats (EARs). A mutation in this gene is the cause of autosomal recessive deafness-98. Alternate splicing results

Show/Hide all (9)

SNP ID	Visualize variation	Clinical significance	Consequence
rs138480801	C>A,T	Pathogenic, benign, benign-likely-benign	Missense variant, coding sequence variant
rs139455627	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, stop gained
rs140542643	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, missense variant, coding sequence variant
rs144586270	C>T	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs146600721	G>A,C	Likely-pathogenic, likely-benign	Synonymous variant, coding sequence variant, stop gained
rs149481227	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs151001222	C>T	Benign, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, missense variant, coding sequence variant
rs1555916009	CCAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1569165728	CT>-	Likely-pathogenic	Frameshift variant, coding sequence variant

139

Show/Hide all (139)

miRTarBase ID	miRNA	Experiments
MIRT1459992	hsa-let-7a	CLIP-seq
MIRT1459993	hsa-let-7b	CLIP-seq
MIRT1459994	hsa-let-7c	CLIP-seq
MIRT1459995	hsa-let-7d	CLIP-seq
MIRT1459996	hsa-let-7e	CLIP-seq
MIRT1459997	hsa-let-7f	CLIP-seq
MIRT1459998	hsa-let-7g	CLIP-seq
MIRT1459999	hsa-let-7i	CLIP-seq
MIRT1460000	hsa-miR-1202	CLIP-seq
MIRT1460001	hsa-miR-122	CLIP-seq
MIRT1460002	hsa-miR-1275	CLIP-seq
MIRT1460003	hsa-miR-1293	CLIP-seq
MIRT1460004	hsa-miR-1304	CLIP-seq
MIRT1460005	hsa-miR-1307	CLIP-seq
MIRT1460006	hsa-miR-1343	CLIP-seq
MIRT1460007	hsa-miR-1468	CLIP-seq
MIRT1460008	hsa-miR-202	CLIP-seq
MIRT1460009	hsa-miR-223	CLIP-seq
MIRT1460010	hsa-miR-2467-5p	CLIP-seq
MIRT1460011	hsa-miR-3128	CLIP-seq
MIRT1460012	hsa-miR-3148	CLIP-seq
MIRT1460013	hsa-miR-3173-3p	CLIP-seq
MIRT1460014	hsa-miR-3188	CLIP-seq
MIRT1460015	hsa-miR-326	CLIP-seq
MIRT1460016	hsa-miR-330-5p	CLIP-seq
MIRT1460017	hsa-miR-3607-5p	CLIP-seq
MIRT1460018	hsa-miR-3615	CLIP-seq
MIRT1460019	hsa-miR-3663-3p	CLIP-seq
MIRT1460020	hsa-miR-3689d	CLIP-seq
MIRT1460021	hsa-miR-3690	CLIP-seq
MIRT1460022	hsa-miR-3942-3p	CLIP-seq
MIRT1460023	hsa-miR-3972	CLIP-seq
MIRT1460024	hsa-miR-4254	CLIP-seq
MIRT1460025	hsa-miR-4259	CLIP-seq
MIRT1460026	hsa-miR-4271	CLIP-seq
MIRT1460027	hsa-miR-4281	CLIP-seq
MIRT1460028	hsa-miR-4285	CLIP-seq
MIRT1460029	hsa-miR-4447	CLIP-seq
MIRT1460030	hsa-miR-4458	CLIP-seq
MIRT1460031	hsa-miR-4472	CLIP-seq
MIRT1460032	hsa-miR-4481	CLIP-seq
MIRT1460033	hsa-miR-4483	CLIP-seq
MIRT1460034	hsa-miR-4500	CLIP-seq
MIRT1460035	hsa-miR-4525	CLIP-seq
MIRT1460036	hsa-miR-4532	CLIP-seq
MIRT1460037	hsa-miR-4533	CLIP-seq
MIRT1460038	hsa-miR-4638-5p	CLIP-seq
MIRT1460039	hsa-miR-4651	CLIP-seq
MIRT1460040	hsa-miR-4665-5p	CLIP-seq
MIRT1460041	hsa-miR-4668-3p	CLIP-seq
MIRT1460042	hsa-miR-4668-5p	CLIP-seq
MIRT1460043	hsa-miR-4695-5p	CLIP-seq
MIRT1460044	hsa-miR-4720-5p	CLIP-seq
MIRT1460045	hsa-miR-4722-5p	CLIP-seq
MIRT1460046	hsa-miR-4723-5p	CLIP-seq
MIRT1460047	hsa-miR-4725-3p	CLIP-seq
MIRT1460048	hsa-miR-4731-5p	CLIP-seq
MIRT1460049	hsa-miR-4745-5p	CLIP-seq
MIRT1460050	hsa-miR-4747-5p	CLIP-seq
MIRT1460051	hsa-miR-4768-5p	CLIP-seq
MIRT1460052	hsa-miR-4776-3p	CLIP-seq
MIRT1460053	hsa-miR-4799-3p	CLIP-seq
MIRT1460054	hsa-miR-509-3p	CLIP-seq
MIRT1460055	hsa-miR-548c-3p	CLIP-seq
MIRT1460056	hsa-miR-577	CLIP-seq
MIRT1460057	hsa-miR-605	CLIP-seq
MIRT1460058	hsa-miR-608	CLIP-seq
MIRT1460059	hsa-miR-615-5p	CLIP-seq
MIRT1460060	hsa-miR-625	CLIP-seq
MIRT1460061	hsa-miR-7	CLIP-seq
MIRT1460062	hsa-miR-876-3p	CLIP-seq
MIRT1460063	hsa-miR-98	CLIP-seq
MIRT1460002	hsa-miR-1275	CLIP-seq
MIRT1460020	hsa-miR-3689d	CLIP-seq
MIRT1460025	hsa-miR-4259	CLIP-seq
MIRT1460027	hsa-miR-4281	CLIP-seq
MIRT1460035	hsa-miR-4525	CLIP-seq
MIRT1460040	hsa-miR-4665-5p	CLIP-seq
MIRT1460046	hsa-miR-4723-5p	CLIP-seq
MIRT1460048	hsa-miR-4731-5p	CLIP-seq
MIRT1460059	hsa-miR-615-5p	CLIP-seq
MIRT1460060	hsa-miR-625	CLIP-seq
MIRT1460002	hsa-miR-1275	CLIP-seq
MIRT2138117	hsa-miR-27a	CLIP-seq
MIRT2138118	hsa-miR-27b	CLIP-seq
MIRT2138119	hsa-miR-3605-5p	CLIP-seq
MIRT2138120	hsa-miR-3652	CLIP-seq
MIRT1460020	hsa-miR-3689d	CLIP-seq
MIRT1460025	hsa-miR-4259	CLIP-seq
MIRT1460027	hsa-miR-4281	CLIP-seq
MIRT2138121	hsa-miR-4430	CLIP-seq
MIRT1460035	hsa-miR-4525	CLIP-seq
MIRT1460040	hsa-miR-4665-5p	CLIP-seq
MIRT1460045	hsa-miR-4722-5p	CLIP-seq
MIRT1460046	hsa-miR-4723-5p	CLIP-seq
MIRT1460048	hsa-miR-4731-5p	CLIP-seq
MIRT2138122	hsa-miR-513a-5p	CLIP-seq
MIRT2138123	hsa-miR-552	CLIP-seq
MIRT1460059	hsa-miR-615-5p	CLIP-seq
MIRT1460060	hsa-miR-625	CLIP-seq
MIRT2138124	hsa-miR-764	CLIP-seq
MIRT2359078	hsa-miR-1245b-3p	CLIP-seq
MIRT2359079	hsa-miR-1296	CLIP-seq
MIRT2359080	hsa-miR-1301	CLIP-seq
MIRT2138117	hsa-miR-27a	CLIP-seq
MIRT2138118	hsa-miR-27b	CLIP-seq
MIRT2359081	hsa-miR-2909	CLIP-seq
MIRT2359082	hsa-miR-2964a-5p	CLIP-seq
MIRT2359083	hsa-miR-3117-5p	CLIP-seq
MIRT2359084	hsa-miR-3120-5p	CLIP-seq
MIRT2359085	hsa-miR-346	CLIP-seq
MIRT2359086	hsa-miR-4288	CLIP-seq
MIRT2359087	hsa-miR-4330	CLIP-seq
MIRT2359088	hsa-miR-4436b-3p	CLIP-seq
MIRT2359089	hsa-miR-4649-5p	CLIP-seq
MIRT2359090	hsa-miR-4660	CLIP-seq
MIRT2359091	hsa-miR-4675	CLIP-seq
MIRT2359092	hsa-miR-4741	CLIP-seq
MIRT2359093	hsa-miR-4761-3p	CLIP-seq
MIRT2359094	hsa-miR-4764-5p	CLIP-seq
MIRT2359095	hsa-miR-5047	CLIP-seq
MIRT2138122	hsa-miR-513a-5p	CLIP-seq
MIRT2359096	hsa-miR-514	CLIP-seq
MIRT2359097	hsa-miR-514b-3p	CLIP-seq
MIRT2138123	hsa-miR-552	CLIP-seq
MIRT2359098	hsa-miR-626	CLIP-seq
MIRT2359099	hsa-miR-632	CLIP-seq
MIRT2138124	hsa-miR-764	CLIP-seq
MIRT1460002	hsa-miR-1275	CLIP-seq
MIRT1460020	hsa-miR-3689d	CLIP-seq
MIRT2396438	hsa-miR-4258	CLIP-seq
MIRT1460025	hsa-miR-4259	CLIP-seq
MIRT1460027	hsa-miR-4281	CLIP-seq
MIRT1460035	hsa-miR-4525	CLIP-seq
MIRT1460040	hsa-miR-4665-5p	CLIP-seq
MIRT1460046	hsa-miR-4723-5p	CLIP-seq
MIRT1460048	hsa-miR-4731-5p	CLIP-seq
MIRT1460059	hsa-miR-615-5p	CLIP-seq
MIRT1460060	hsa-miR-625	CLIP-seq

Show/Hide all (15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005576	Component	Extracellular region	IEA
GO:0007165	Process	Signal transduction	IBA
GO:0007219	Process	Notch signaling pathway	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	IMP	22678063
GO:0007605	Process	Sensory perception of sound	IMP	22678063
GO:0008593	Process	Regulation of Notch signaling pathway	IMP	27736875
GO:0009986	Component	Cell surface	IEA
GO:0009986	Component	Cell surface	ISS
GO:0022405	Process	Hair cycle process	IEA
GO:0032420	Component	Stereocilium	IEA
GO:0032420	Component	Stereocilium	ISS
GO:0034505	Process	Tooth mineralization	IMP	27736875
GO:0042995	Component	Cell projection	IEA
GO:0060170	Component	Ciliary membrane	IEA

MIM	HGNC	e!Ensembl
612920	1268	ENSG00000175894

Q8WU66

Protein name

Thrombospondin-type laminin G domain and EAR repeat-containing protein (TSP-EAR)

Protein function

Plays a critical role in tooth and hair follicle morphogenesis through regulation of the Notch signaling pathway (PubMed:27736875). May play a role in development or function of the auditory system (PubMed:22678063). {ECO:0000269|PubMed:22678063

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03736	EPTP	360 → 407	EPTP domain	Repeat
PF03736	EPTP	412 → 459	EPTP domain	Repeat
PF03736	EPTP	464 → 509	EPTP domain	Repeat
PF03736	EPTP	514 → 569	EPTP domain	Repeat
PF03736	EPTP	574 → 621	EPTP domain	Repeat

Sequence

MSALLSLCFVLPLAAPGHGTQGWEPCTDLRPLDILAEVVPSDGATSGIRIVQVHGARGLQ
LSVAAPRTMSFPASRIFSQCDLFPEEFSIVVTLRVPNLPPKRNEYLLTVVAEESDLLLLG
LRLSPAQLHFLFLREDTAGAWQTRVSFRSPALVDGRWHTLVLAVSAGVFSLTTDCGLPVD
IMADVPFPATLSVKGARFFVGSRRRAKGLFMGLVRQLVLLPGSDATPRLCPSRNAPLAVL
SIPRVLQALTGKPEDNEVLKYPYETNIRVTLGPQPPCTEVEDAQFWFDASRKGLYLCVGN
EWVSVLAAKERLDYVEEHQNLSTNSETLGIEVFRIPQVGLFVATANRKATSAVYKWTEEK
FVSYQNIPTHQAQAWRHFTIGKKIFLAVANFEPDEKGQEFSVIYKWSHRKLKFTPYQSIA
THSARDWEAFEVDGEHFLAVANHREGDNHNIDSVIYKWNPATRLFEANQTIATSGAYDWE
FFSVGPYSFLVVANTFNGTSTKVHSHLYIRLLGSFQLFQSFPTFGAADWEVFQIGERIFL
AVANSHSYDVEMQVQNDSYVINSVIYELNVTAQAFVKFQDILTCSALDWEFFSVGEDYFL
VVANSFDGRTFSVNSIIYRWQGYEGFVAVHSLPTVGCRDWEAFSTTAGAYLIYSSAKEPL
SRVLRLRTR

Sequence length

669

Interactions

View interactions

132

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive nonsyndromic hearing loss 98	Pathogenic	rs781881476, rs782360263, rs2052743639, rs782540538	RCV005637024 RCV005636669 RCV005637082 RCV000030851
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis	Pathogenic; Likely pathogenic	rs966162330, rs781881476, rs782084367, rs782056388, rs1253114701, rs782224965, rs782338346, rs782360263, rs2517308888, rs2052743639, rs139455627, rs1569151872, rs781890406, rs782552484, rs1467180870	RCV001331741 RCV005637024 RCV002283873 RCV002464051 RCV002464052 RCV003059996 RCV005869890 RCV005636669 RCV004556872 RCV005637082 RCV002289583 RCV001331740 RCV005367665 RCV001376117 RCV001376116
Ectodermal dysplasia 14, hair/tooth type, with hypohidrosis	Pathogenic	rs782540538, rs1555916009	RCV000721118 RCV000721119
Tooth agenesis, selective, 10	Pathogenic; Likely pathogenic	rs966162330, rs781881476, rs782159618, rs782084367, rs587690535, rs2517308413, rs2051993500, rs782360263, rs2052743639, rs782540538	RCV003989682 RCV005637024 RCV004813184 RCV005869774 RCV002470674 RCV002470676 RCV002470677 RCV005636669 RCV005637082 RCV002470723
TSPEAR-related disorder	Likely pathogenic; Pathogenic	rs778688031, rs2517395250, rs139455627, rs781890406	RCV003416561 RCV003902307 RCV003418147 RCV004754676
TSPEAR-related disorder of tooth and hair follicle morphogenesis	Likely pathogenic; Pathogenic	rs139455627, rs1569151872	RCV000708577 RCV000708576

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Hearing impairment	Uncertain significance	rs1318971093	RCV001375437
Malignant tumor of esophagus	Uncertain significance	rs963392857	RCV005930602
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	rs781994662	RCV005901885

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	40708016
Anodontia	Associate	30046887, 34042254
Deafness Autosomal Recessive	Associate	30046887
Deafness oligodontia syndrome	Associate	40428341
Ectodermal Dysplasia	Associate	34042254, 35741818, 40428341
Genetic Diseases Inborn	Associate	33494993
Hair Diseases	Associate	40428341
Hearing Loss	Associate	34042254
Hearing Loss Sensorineural	Associate	34795337
Microphthalmia syndromic 2	Associate	30046887
Nonsyndromic Deafness	Associate	34042254
Pulmonary Disease Chronic Obstructive	Associate	36924977
Zlotogora Ogur syndrome	Associate	40428341

TSPEAR (thrombospondin type laminin G domain and EAR repeats)