Identity
HGNC
LOCATION
21q22.3
LOCUSID
ALIAS
C21orf29,DFNB98,ECTD14,TSP-EAR
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 54084
MIM: 612920
HGNC: 1268
Ensembl: ENSG00000175894
Variants:
dbSNP: 54084
ClinVar: 54084
TCGA: ENSG00000175894
COSMIC: TSPEAR
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000175894 | ENST00000323084 | Q8WU66 |
| ENSG00000175894 | ENST00000642437 | A0A2R8YFK6 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37009414 | 2023 | Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14. | 2 |
| 37009414 | 2023 | Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14. | 2 |
| 35741818 | 2022 | Confirmation of a Phenotypic Entity for TSPEAR Variants in Egyptian Ectodermal Dysplasia Patients and Role of Ethnicity. | 0 |
| 35741818 | 2022 | Confirmation of a Phenotypic Entity for TSPEAR Variants in Egyptian Ectodermal Dysplasia Patients and Role of Ethnicity. | 0 |
| 34042254 | 2021 | TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study. | 8 |
| 34042254 | 2021 | TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study. | 8 |
| 32112661 | 2020 | Novel TSPEAR mutations in non-syndromic oligodontia. | 7 |
| 32112661 | 2020 | Novel TSPEAR mutations in non-syndromic oligodontia. | 7 |
| 30046887 | 2018 | Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis. | 13 |
| 30046887 | 2018 | Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis. | 13 |
| 28005267 | 2017 | Human gingiva transcriptome during wound healing. | 14 |
| 28005267 | 2017 | Human gingiva transcriptome during wound healing. | 14 |
| 27736875 | 2016 | Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis. | 24 |
| 27736875 | 2016 | Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis. | 24 |
| 22678063 | 2012 | Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness. | 31 |
Citation
Dessen P
TSPEAR (thrombospondin type laminin G domain and EAR repeats)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/75242/tspear-(thrombospondin-type-laminin-g-domain-and-ear-repeats)
