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] See more...

Aliases for TSPEAR Gene

Aliases for TSPEAR Gene

  • Thrombospondin Type Laminin G Domain And EAR Repeats 2 3 5
  • TSP-EAR 2 3 4
  • Thrombospondin-Type Laminin G Domain And EAR Repeat-Containing Protein 3 4
  • C21orf29 3 4
  • Thrombospondin-Type Laminin G Domain And EAR Repeats-Containing Protein 3
  • Chromosome 21 Open Reading Frame 29 2
  • Deafness, Autosomal Recessive 98 2
  • MGC11251 2
  • DFNB98 3
  • ECTD14 3
  • TSPEAR 5

External Ids for TSPEAR Gene

Previous HGNC Symbols for TSPEAR Gene

  • C21orf29
  • DFNB98

Previous GeneCards Identifiers for TSPEAR Gene

  • GC21M042438
  • GC21M045918
  • GC21M045919
  • GC21M046047
  • GC21M046309
  • GC21M046459
  • GC21M046655

Summaries for TSPEAR Gene

Entrez Gene Summary for TSPEAR Gene

  • 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]

GeneCards Summary for TSPEAR Gene

TSPEAR (Thrombospondin Type Laminin G Domain And EAR Repeats) is a Protein Coding gene. Diseases associated with TSPEAR include Deafness, Autosomal Recessive 98 and Ectodermal Dysplasia 14, Hair/Tooth Type With Or Without Hypohidrosis.

UniProtKB/Swiss-Prot Summary for TSPEAR Gene

  • Plays a critical role in tooth and hair follicle morphogenesis through regulation of the Notch signaling pathway (PubMed:27736875). May play a role in development or function of the auditory system (PubMed:22678063).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TSPEAR Gene

Genomics for TSPEAR Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TSPEAR Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH21J044752 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE CraniofacialAtlas 600.3 -41.8 -41828 6 CREB1 ZBTB33 TARDBP ZIC2 GABPA CTCF SCRT2 MNT ZNF512B ZKSCAN1 TSPEAR TSPEAR-AS2 KRTAP10-2 KRTAP10-1 TSPEAR-AS1 UBE2G2 LINC01424 lnc-KRTAP10-12-2 HSALNG0133560
GH21J044709 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE 608.7 +1.5 1521 3.6 POLR2A EZH2 ZFHX2 SIN3A GATA3 GLIS1 FOS CTCF TAF1 EGR2 TSPEAR TSPEAR-AS2 LINC01678 piR-44133-019 KRTAP10-12
GH21J044699 Promoter/Enhancer 0.7 EPDnew Ensembl 605.6 +11.7 11671 1 USF1 NR2C2 TSPEAR KRTAP10-12 KRTAP10-13P
GH21J044714 Enhancer 0.3 Ensembl 600.7 -0.7 -729 0.2 EZH2 TSPEAR TSPEAR-AS2 piR-49818 UBE2G2
GH21J044702 Enhancer 1.1 FANTOM5 Ensembl ENCODE 8.6 +8.0 7974 2.4 GATAD2A TFE3 NFKBIZ ZIC2 RXRB CEBPA SOX13 ESR1 ZBTB26 RNF2 KRTAP10-13P TSPEAR DNMT3L AIRE piR-44110-037 KRTAP10-12
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TSPEAR on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TSPEAR

Genomic Locations for TSPEAR Gene

Genomic Locations for TSPEAR Gene
chr21:44,497,893-44,711,572
(GRCh38/hg38)
Size:
213,680 bases
Orientation:
Minus strand
chr21:45,917,775-46,131,495
(GRCh37/hg19)
Size:
213,721 bases
Orientation:
Minus strand

Genomic View for TSPEAR Gene

Genes around TSPEAR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TSPEAR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TSPEAR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TSPEAR Gene

Proteins for TSPEAR Gene

  • Protein details for TSPEAR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WU66-TSEAR_HUMAN
    Recommended name:
    Thrombospondin-type laminin G domain and EAR repeat-containing protein
    Protein Accession:
    Q8WU66

    Protein attributes for TSPEAR Gene

    Size:
    669 amino acids
    Molecular mass:
    74924 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH21197.2; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};

    Alternative splice isoforms for TSPEAR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TSPEAR Gene

Post-translational modifications for TSPEAR Gene

  • Glycosylation at Asn320, Asn468, Asn497, Asn556, and Asn569
  • Modification sites at PhosphoSitePlus

Other Protein References for TSPEAR Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TSPEAR Gene

Domains & Families for TSPEAR Gene

Gene Families for TSPEAR Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for TSPEAR Gene

InterPro:
Blocks:
  • Thrombospondin, N-terminal
  • Laminin G
ProtoNet:

Suggested Antigen Peptide Sequences for TSPEAR Gene

GenScript: Design optimal peptide antigens:
  • Thrombospondin-type laminin G domain and EAR repeats-containing protein (TSEAR_HUMAN)
genes like me logo Genes that share domains with TSPEAR: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TSPEAR Gene

Function for TSPEAR Gene

Molecular function for TSPEAR Gene

UniProtKB/Swiss-Prot Function:
Plays a critical role in tooth and hair follicle morphogenesis through regulation of the Notch signaling pathway (PubMed:27736875). May play a role in development or function of the auditory system (PubMed:22678063).

Phenotypes From GWAS Catalog for TSPEAR Gene

Gene Ontology (GO) - Molecular Function for TSPEAR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with TSPEAR: view
genes like me logo Genes that share phenotypes with TSPEAR: view

Human Phenotype Ontology for TSPEAR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TSPEAR

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for TSPEAR Gene

Localization for TSPEAR Gene

Subcellular locations from UniProtKB/Swiss-Prot for TSPEAR Gene

Secreted. Cell surface. Cell projection, stereocilium. Note=Secreted protein which may bind to the cell surface via a membrane receptor. {ECO:0000250 UniProtKB:J3S6Y1}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TSPEAR gene
Compartment Confidence
extracellular 4
plasma membrane 3
nucleus 1
mitochondrion 0
lysosome 0

Gene Ontology (GO) - Cellular Components for TSPEAR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0009986 cell surface ISS --
GO:0032420 stereocilium ISS --
GO:0042995 cell projection IEA --
GO:0060170 ciliary membrane IEA --
genes like me logo Genes that share ontologies with TSPEAR: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TSPEAR Gene

Pathways & Interactions for TSPEAR Gene

PathCards logo

SuperPathways for TSPEAR Gene

No Data Available

Gene Ontology (GO) - Biological Process for TSPEAR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IBA 21873635
GO:0007605 sensory perception of sound IEA,IMP 22678063
GO:0008593 regulation of Notch signaling pathway IMP 27736875
GO:0034505 tooth mineralization IMP 27736875
genes like me logo Genes that share ontologies with TSPEAR: view

No data available for Pathways by source and SIGNOR curated interactions for TSPEAR Gene

Drugs & Compounds for TSPEAR Gene

No Compound Related Data Available

Transcripts for TSPEAR Gene

mRNA/cDNA for TSPEAR Gene

2 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TSPEAR

Alternative Splicing Database (ASD) splice patterns (SP) for TSPEAR Gene

No ASD Table

Relevant External Links for TSPEAR Gene

GeneLoc Exon Structure for
TSPEAR

Expression for TSPEAR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TSPEAR Gene

mRNA differential expression in normal tissues according to GTEx for TSPEAR Gene

This gene is overexpressed in Testis (x8.6) and Pituitary (x7.0).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TSPEAR

SOURCE GeneReport for Unigene cluster for TSPEAR Gene:

Hs.660703

Evidence on tissue expression from TISSUES for TSPEAR Gene

  • Lung(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TSPEAR Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
  • middle ear
  • outer ear
  • skull
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with TSPEAR: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for TSPEAR Gene

Orthologs for TSPEAR Gene

This gene was present in the common ancestor of chordates.

Orthologs for TSPEAR Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TSPEAR 30 31
  • 99.05 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia LOC611461 30
  • 84.66 (n)
TSPEAR 31
  • 84 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia TSPEAR 30 31
  • 83.78 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Tspear 30 17 31
  • 81.79 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TSPEAR 31
  • 70 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TSPEAR 31
  • 67 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TSPEAR 30 31
  • 72.63 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TSPEAR 31
  • 66 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tspear 30
  • 64.66 (n)
Zebrafish
(Danio rerio)
Actinopterygii tspearb 30 31
  • 62.22 (n)
OneToMany
tspeara 31
  • 54 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 43 (a)
OneToMany
-- 31
  • 32 (a)
OneToMany
Species where no ortholog for TSPEAR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for TSPEAR Gene

ENSEMBL:
Gene Tree for TSPEAR (if available)
TreeFam:
Gene Tree for TSPEAR (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TSPEAR: view image

Paralogs for TSPEAR Gene

(1) SIMAP similar genes for TSPEAR Gene using alignment to 2 proteins:

  • TSEAR_HUMAN
  • A8MW19_HUMAN
genes like me logo Genes that share paralogs with TSPEAR: view

No data available for Paralogs for TSPEAR Gene

Variants for TSPEAR Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TSPEAR Gene

SNP ID Clinical significance and condition Chr 21 pos Variation AA Info Type
667548 Likely Benign: not provided 44,522,062(-) G/A MISSENSE_VARIANT
680866 Likely Benign: not provided 44,531,100(-) T/C SYNONYMOUS_VARIANT
681346 Likely Benign: not provided 44,529,820(-) G/A SYNONYMOUS_VARIANT
682345 Likely Benign: not provided 44,533,777(-) C/T SYNONYMOUS_VARIANT
683310 Likely Benign: not provided 44,522,143(-) G/A INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for TSPEAR Gene

Structural Variations from Database of Genomic Variants (DGV) for TSPEAR Gene

Variant ID Type Subtype PubMed ID
dgv2402n106 CNV duplication 24896259
dgv2506e59 CNV duplication 20981092
dgv4435n100 CNV gain 25217958
dgv7891n54 CNV gain 21841781
dgv7892n54 CNV loss 21841781
esv1917114 CNV deletion 18987734
esv1943808 CNV deletion 18987734
esv2109234 CNV deletion 18987734
esv2114700 CNV deletion 18987734
esv23492 CNV gain+loss 19812545
esv2660233 CNV deletion 23128226
esv2723638 CNV deletion 23290073
esv2723666 CNV deletion 23290073
esv2723667 CNV deletion 23290073
esv2723668 CNV deletion 23290073
esv2723669 CNV deletion 23290073
esv2723670 CNV deletion 23290073
esv2723671 CNV deletion 23290073
esv2723673 CNV deletion 23290073
esv2723674 CNV deletion 23290073
esv2723675 CNV deletion 23290073
esv2723676 CNV deletion 23290073
esv2723677 CNV deletion 23290073
esv2751931 CNV loss 17911159
esv2760705 CNV gain 21179565
esv33817 CNV loss 17666407
esv3449400 CNV insertion 20981092
esv3557810 CNV deletion 23714750
esv3647132 CNV gain 21293372
esv3647133 CNV loss 21293372
esv7169 OTHER inversion 19470904
esv8518 OTHER inversion 19470904
nsv1055163 CNV gain 25217958
nsv1058359 CNV gain 25217958
nsv1061423 CNV gain 25217958
nsv1071761 CNV deletion 25765185
nsv1111232 CNV tandem duplication 24896259
nsv1120413 CNV tandem duplication 24896259
nsv1123568 CNV deletion 24896259
nsv1131644 CNV deletion 24896259
nsv1139035 CNV deletion 24896259
nsv1142576 CNV deletion 24896259
nsv1149068 CNV duplication 26484159
nsv516004 CNV loss 19592680
nsv524387 CNV loss 19592680
nsv587802 CNV loss 21841781
nsv587803 CNV loss 21841781
nsv587804 CNV loss 21841781
nsv587810 CNV gain 21841781
nsv587811 CNV loss 21841781
nsv587812 CNV loss 21841781
nsv828913 CNV gain 20364138
nsv834109 CNV loss 17160897
nsv953646 CNV deletion 24416366
nsv953647 CNV deletion 24416366

Variation tolerance for TSPEAR Gene

Residual Variation Intolerance Score: 95.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.16; 51.67% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TSPEAR Gene

Human Gene Mutation Database (HGMD)
TSPEAR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TSPEAR

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TSPEAR Gene

Disorders for TSPEAR Gene

MalaCards: The human disease database

(10) MalaCards diseases for TSPEAR Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 98
  • dfnb98
ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
  • ectd14
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
ectodermal dysplasia
  • congenital ectodermal defect
tooth agenesis
  • familial tooth agenesis
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TSEAR_HUMAN
  • Deafness, autosomal recessive, 98 (DFNB98) [MIM:614861]: A form of non-syndromic sensorineural hearing loss with prelingual onset. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269 PubMed:22678063}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis (ECTD14) [MIM:618180]: A form of ectodermal dysplasia, a disorder due to abnormal development of two or more ectodermal structures. ECTD14 is an autosomal recessive form characterized by scalp hypotrichosis, hypodontia, and mild facial dysmorphism. Some patients have decreased sweating. {ECO:0000269 PubMed:27736875}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with TSPEAR: view

No data available for Genatlas for TSPEAR Gene

Publications for TSPEAR Gene

  1. Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness. (PMID: 22678063) Delmaghani S … Petit C (Human molecular genetics 2012) 2 3 4
  2. A common protein interaction domain links two recently identified epilepsy genes. (PMID: 12095917) Scheel H … Hofmann K (Human molecular genetics 2002) 2 3 4
  3. Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis. (PMID: 27736875) Peled A … Sprecher E (PLoS genetics 2016) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis. (PMID: 30046887) Du R … Uyguner ZO (Human genetics 2018) 3

Products for TSPEAR Gene

  • Signalway Proteins for TSPEAR

Sources for TSPEAR Gene