TSPEAR thrombospondin type laminin G domain and EAR repeats

Gene ID: 54084, updated on 2-Nov-2024
Gene type: protein coding
Also known as: DFNB98; ECTD14; STHAG10; TSP-EAR; C21orf29

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 in multiple transcript variants. [provided by RefSeq, Dec 2012]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Autosomal recessive nonsyndromic hearing loss 98 MedGen: C3553932OMIM: 614861GeneReviews: Not available	See labs
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis MedGen: C4748560OMIM: 618180GeneReviews: Not available	See labs
Tooth agenesis, selective, 10 MedGen: C5774277OMIM: 620173GeneReviews: Not available	not available

Genomic context

Location:: 21q22.3

Sequence:: Chromosome: 21; NC_000021.9 (44497893..44711572, complement)

Total number of exons:: 13

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for TSPEAR variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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