TSPEAR - thrombospondin type laminin G domain and EAR repeats Gene

Homo sapiens

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

Gene ID: 54084 | Gene type: protein coding

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

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

Bioactive Molecules (1)

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

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