TSPEAR (thrombospondin type laminin G domain and EAR repeats)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
54084
Gene name Gene Name - the full gene name approved by the HGNC.
Thrombospondin type laminin G domain and EAR repeats
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TSPEAR
Synonyms (NCBI Gene) Gene synonyms aliases
C21orf29, DFNB98, ECTD14, STHAG10, TSP-EAR
Chromosome Chromosome number
21
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
21q22.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
612920 1268 ENSG00000175894
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Deafness Autosomal recessive nonsyndromic hearing loss 98 rs782540538 N/A
Ectodermal Dysplasia Ectodermal dysplasia 14, hair/tooth type, with hypohidrosis, ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis rs782540538, rs139455627, rs1569151872, rs1555916009, rs781890406 N/A
tooth agenesis Tooth agenesis, selective, 10 rs782540538 N/A
Show/Hide Unknown Diseases (2)
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.
Disease merge term Disease name Evidence References Source
Corticobasal Degeneration Corticobasal degeneration N/A N/A GWAS
Glioblastoma Glioblastoma N/A N/A GWAS
Show/Hide Text Mining Associations (13)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
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