Gene Gene information from NCBI Gene database.
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
SNPs SNP information provided by dbSNP.
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
miRNA miRNA information provided by mirtarbase database.
139
miRTarBase ID miRNA Experiments Reference
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612920 1268 ENSG00000175894
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
FVSYQNIPTHQAQAWRHFTIGKKIFLAVANFEPDEKGQEFSVIYKWS
HRKLKFTPYQSIA
THSARDWEAFEVDGEHFLAVANHREGDNHNIDSVIYKWN
PATRLFEANQTIATSGAYDWE
FFSVGPYSFLVVANTFNGTSTKVHSHLYI
RLLGSFQLFQSFPTFGAADWEVFQIGERIFL
AVANSHSYDVEMQVQNDSYVINSVIYELN
VTAQAFVKFQDILTCSALDWEFFSVGEDYFL
VVANSFDGRTFSVNSIIYRWQ
GYEGFVAVHSLPTVGCRDWEAFSTTAGAYLIYSSAKEPL
SRVLRLRTR
Sequence length 669
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
21
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autosomal recessive nonsyndromic hearing loss 98 Pathogenic rs781881476, rs782360263, rs2052743639, rs782540538 RCV005637024
RCV005636669
RCV005637082
RCV000030851
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
View all (10 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ectodermal dysplasia 14, hair/tooth type, with hypohidrosis Pathogenic rs782540538, rs1555916009 RCV000721118
RCV000721119
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tooth agenesis, selective, 10 Pathogenic; Likely pathogenic rs966162330, rs781881476, rs782159618, rs782084367, rs587690535, rs2517308413, rs2051993500, rs782360263, rs2052743639, rs782540538 RCV003989682
RCV005637024
RCV004813184
RCV005869774
RCV002470674
View all (5 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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.
Phenotype Name Clinical Significance Source Evidence Score
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORTICOBASAL DEGENERATION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alopecia Alopecia GWASCAT_DG 28196072
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 40708016 Associate
★☆☆☆☆
Found in Text Mining only
Anodontia Anodontia Pubtator 30046887, 34042254 Associate
★☆☆☆☆
Found in Text Mining only
Autosomal recessive non-syndromic sensorineural deafness type DFNB Non-Syndromic Sensorineural Deafness Orphanet
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer UNIPROT_DG
★☆☆☆☆
Found in Text Mining only
Deafness Autosomal Recessive Deafness Pubtator 30046887 Associate
★☆☆☆☆
Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE 98 Deafness GENOMICS_ENGLAND_DG 22678063
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 98 Deafness BEFREE 30046887
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 98 Deafness CTD_human_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Dyskinetic syndrome Dyskinetic Syndrome CLINVAR_DG 27736875
★☆☆☆☆
Found in Text Mining only