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TSPEAR - thrombospondin type laminin G domain and EAR repeats Gene

Also Known as DFNB98; ECTD14; TSP-EAR; C21orf29

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 54084

About TSPEAR

Cytogenetic location: 21q22.3 Genomic coordinates (GRCh38): 21:44,497,893-44,711,572 (from NCBI)

This gene has 3 transcripts (splice variants), 259 orthologues and is associated with 3 phenotypes. Biased expression in testis (RPKM 1.1), skin (RPKM 0.4) and 9 other tissues.

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]

TSPEAR Products (2)

mRNA	Protein	Name
NM_001272037.2	NP_001258966.1	thrombospondin-type laminin G domain and EAR repeat-containing protein isoform 2
NM_144991.3	NP_659428.2	thrombospondin-type laminin G domain and EAR repeat-containing protein isoform 1 precursor

Gene Ontology

Biological Process

Biological Process GO Annotation	Evidence	References	Source
involved in regulation of Notch signaling pathway	IMP IMP: Inferred from mutant phenotype	27736875	GOA
acts upstream of or within sensory perception of sound	IMP IMP: Inferred from mutant phenotype	22678063	GOA
involved in sensory perception of sound	IMP IMP: Inferred from mutant phenotype	22678063	GOA
involved in tooth mineralization	IMP IMP: Inferred from mutant phenotype	27736875	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TSPEAR Protein Structure

EPTP

0
200
400
600
669 a.a.

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

Related Diseases

Diseases	Alias
Ectodermal Dysplasia 14, Hair/Tooth Type With Or Without Hypohidrosis	ECTD14 Ectodermal Dysplasia 14 Ectn14
Deafness, Autosomal Recessive 98	DFNB98 Autosomal Recessive Nonsyndromic Deafness 98 Autosomal Recessive Deafness 98 Deafness, Autosomal Recessive, 98 Deafness, Autosomal Recessive, Type 98
Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb
Ectodermal Dysplasia	Congenital Ectodermal Defect Congenital Ectodermal Dysplasia Ectodermal Dysplasia Syndrome Dysplasia, Ectodermal
Autosomal Dominant Nonsyndromic Deafness 74	Dfna74
Hypotrichosis
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
Microphthalmia, Syndromic 2	Oculofaciocardiodental Syndrome Ofcd Syndrome MCOPS2 Microphthalmia, Cataracts, Radiculomegaly, And Septal Heart Defects Syndromic Microphthalmia 2 Anop2 Cataract-Microphthalmia-Radiculomegaly-Cardiac Septal Defect Syndrome Maa2 Microphthalmia Cataracts Radiculomegaly And Septal Heart Defects Syndromic Microphthalmia Type 2 Oculo-Facio-Cardio-Dental Syndrome Anop2, Formerly Maa2, Formerly Microphthalmia Syndromic 2 Oculo Facio Cardio Dental Syndrome Microphthalmia, Syndromic, 2 Marashi-Gorlin Syndrome Microphthalmia, Cataracts, Radiculomegaly And Septal Heart Defects Microphthalmia, Syndromic, Type 2
Deafness, Autosomal Recessive 29	DFNB29 Autosomal Recessive Nonsyndromic Deafness 29 Autosomal Recessive Deafness 29 Deafness, Autosomal Recessive, 29 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 29 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 29 Deafness, Autosomal Recessive, Type 29
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Tooth Agenesis	Oligodontia Hypodontia Selective Tooth Agenesis Tooth Agenesis, Selective Familial Tooth Agenesis Anodontia Congenital Absence Of One Tooth
Ectodermal Dysplasia 10b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Hypohidrotic Ectodermal Dysplasia Hed Anhidrotic Ectodermal Dysplasia Ectodermal Dysplasia, Hypohidrotic Eda Christ-Siemens-Touraine Syndrome ECTD10B Ectodermal Dysplasia Anhidrotic Ectodermal Dysplasia, Anhidrotic Cst Syndrome Ectodermal Dysplasia Hypohidrotic Autosomal Recessive Dysplasia, Ectodermal, Type 10b, Hypohidrotic/Hair/Tooth, Autosomal Recessive Dysplasia, Ectodermal, Hypohidrotic Ectodermal Dysplasia 11b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive Ectodermal Dysplasia 3, Anhidrotic Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
Autosomal Recessive Nonsyndromic Deafness	Deafness, Autosomal Recessive, Nonsyndromic

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15176	TSPEAR Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	TSPEAR	RGD	RGD:1563108
Felis catus	TSPEAR	VGNC	VGNC:66638
Canis familiaris	TSPEAR	VGNC	VGNC:53046
Bos taurus	TSPEAR	VGNC	VGNC:36444
Mus musculus	TSPEAR	MGD	MGI:2671932
Others	TSPEAR	NCBI