TSPEAR thrombospondin type laminin G domain and EAR repeats [Homo sapiens (human)] - Gene

Summary

Official Symbol: TSPEARprovided by HGNC
Official Full Name: thrombospondin type laminin G domain and EAR repeatsprovided by HGNC
Primary source: HGNC:HGNC:1268
See related: Ensembl:ENSG00000175894 MIM:612920; AllianceGenome:HGNC:1268
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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]
Expression: Biased expression in testis (RPKM 1.1), skin (RPKM 0.4) and 9 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 21q22.3

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	21	NC_000021.9 (44497893..44711572, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	21	NC_060945.1 (42858376..43072006, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	21	NC_000021.8 (45917776..46131487, complement)

Chromosome 21 - NC_000021.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14.
Title: Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14.
Confirmation of a Phenotypic Entity for TSPEAR Variants in Egyptian Ectodermal Dysplasia Patients and Role of Ethnicity.
Title: Confirmation of a Phenotypic Entity for TSPEAR Variants in Egyptian Ectodermal Dysplasia Patients and Role of Ethnicity.
TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.
Title: TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.
Novel TSPEAR mutations in non-syndromic oligodontia.
Title: Novel TSPEAR mutations in non-syndromic oligodontia.
TSPEAR mutation is associated with tooth agenesis.
Title: Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis.
using a luciferase-based reporter assay, we showed that TSPEAR knock-down is associated with decreased Notch signaling. In addition, NOTCH1 protein expression was reduced in patient scalp skin. Moreover, TSPEAR silencing in mouse hair follicle organ cultures was found to induce apoptosis in follicular epithelial cells, resulting in decreased hair bulb diameter
Title: Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.
TSPEAR expression is significantly downregulated in human masticatory mucosa during wound healing
Title: Human gingiva transcriptome during wound healing.
TSPEAR, cause disorders with auditory features: epilepsy, which can include auditory features in humans; audiogenic seizures in animals; and/or hearing impairments in humans and mice.
Title: Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness.
The TSPEAR/C21orf29 promoter is activated by Trichostatin A (TSA) treatment according to promoter reporter assays in HEK 293 cells.
Title: Functional analysis and identification of cis-regulatory elements of human chromosome 21 gene promoters.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Autosomal recessive nonsyndromic hearing loss 98 MedGen: C3553932 OMIM: 614861 GeneReviews: Not available	Compare labs
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis MedGen: C4748560 OMIM: 618180 GeneReviews: Not available	Compare labs
Tooth agenesis, selective, 10 MedGen: C5774277 OMIM: 620173 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH103979 (e-PCR)
- UniSTS:98304

D21S171 (e-PCR)
- UniSTS:62478

STS_CEB282 (e-PCR)
- UniSTS:255270

RH75464 (e-PCR)
- UniSTS:88893

SHGC-51970 (e-PCR)
- UniSTS:55413

SHGC-7553 (e-PCR)
- UniSTS:72312

SHGC-51854 (e-PCR)
- UniSTS:26750

SHGC-51969 (e-PCR)
- UniSTS:42650

SHGC-51971 (e-PCR)
- UniSTS:74661

D21S171 (e-PCR)
- UniSTS:147899

SHGC-87708 (e-PCR)
- UniSTS:34499

SHGC-87699 (e-PCR)
- UniSTS:46042

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in Notch signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in hair cycle process	IEA Inferred from Electronic Annotation more info
involved_in regulation of Notch signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in tooth mineralization	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cell surface	ISS Inferred from Sequence or Structural Similarity more info
located_in ciliary membrane	IEA Inferred from Electronic Annotation more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in stereocilium	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: thrombospondin-type laminin G domain and EAR repeat-containing protein

Names: thrombospondin-type laminin G domain and EAR repeats-containing protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_033806.2 RefSeqGene

Range

5000..218679

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001272037.2 → NP_001258966.1 thrombospondin-type laminin G domain and EAR repeat-containing protein isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an additional exon in the 5' region that causes translation initiation from a downstream AUG compared to variant 1. The resulting isoform (2) has a shorter N-terminus compared to isoform 1.

Source sequence(s)

AJ487962, AL773604, BC115414

UniProtKB/Swiss-Prot

Q8WU66

UniProtKB/TrEMBL

A0A087WZ72

Conserved Domains (2) summary

pfam03736
Location:344 → 391

EPTP; EPTP domain

cl22861
Location:14 → 154

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
NM_144991.3 → NP_659428.2 thrombospondin-type laminin G domain and EAR repeat-containing protein isoform 1 precursor

See identical proteins and their annotated locations for NP_659428.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AJ487962

Consensus CDS

CCDS13712.1

UniProtKB/Swiss-Prot

Q8WU66

Related

ENSP00000321987.4, ENST00000323084.9

Conserved Domains (2) summary

pfam03736
Location:412 → 459

EPTP; EPTP domain

cl22861
Location:82 → 222

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...