Aliases for TSPEAR Gene
Aliases for TSPEAR Gene
- Thrombospondin Type Laminin G Domain And EAR Repeats 2 3 5
- C21orf29 3 4
- TSP-EAR 3 4
- Thrombospondin-Type Laminin G Domain And EAR Repeats-Containing Protein 3
- Thrombospondin-Type Laminin G Domain And EAR Repeat-Containing Protein 3
- Chromosome 21 Open Reading Frame 29 2
- Deafness, Autosomal Recessive 98 2
- DFNB98 3
External Ids for TSPEAR Gene
- HGNC: 1268
- Entrez Gene: 54084
- Ensembl: ENSG00000175894
- OMIM: 612920
- UniProtKB: Q8WU66
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
-
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 Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb.
UniProtKB/Swiss-Prot for TSPEAR Gene
-
May play a role in development or function of the auditory system.
Additional gene information for TSPEAR Gene
- Monarch Initiative
- Search for TSPEAR at DataMed
- Search for TSPEAR at HumanCyc
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TSPEAR Gene
Genomics for TSPEAR Gene
GeneHancer (GH) Regulatory Elements for TSPEAR Gene
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 |
|---|---|---|---|---|---|---|---|---|---|---|
| GH21I044713 | Promoter | 0.8 | EPDnew | 550.8 | 0.0 | -12 | 0.1 | RING1 CTCF GATA3 SIN3A EZH2 | TSPEAR ENSG00000184441 ENSG00000215447 C21orf2 PIR42817 | |
| GH21I044711 | Enhancer | 0.5 | ENCODE | 550.8 | -0.2 | -221 | 0.2 | RING1 CTCF GATA3 SIN3A EZH2 | TSPEAR ENSG00000184441 ENSG00000215447 TSPEAR-AS2 C21orf2 PIR42817 | |
| GH21I044712 | Enhancer | 0.4 | ENCODE | 550.8 | +0.5 | 479 | 0.2 | SUZ12 GLIS1 EZH2 | TSPEAR GC21M045510 | |
| GH21I044702 | Enhancer | 1.2 | FANTOM5 Ensembl ENCODE | 8.6 | +7.7 | 7656 | 2.5 | DRAP1 USF1 FOXA2 SAP130 CEBPG ZIC2 ZNF48 RARA SLC30A9 E2F1 | GC21M045510 KRTAP10-13P TSPEAR DNMT3L AIRE | |
| GH21I044709 | Enhancer | 0.5 | ENCODE | 8.8 | +3.0 | 3011 | 0.7 | ZFHX2 POU5F1 SIN3A EZH2 | TSPEAR GC21M045510 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around TSPEAR on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for TSPEAR Gene
Genomic Locations for TSPEAR Gene
- chr21:44,497,892-44,711,580
- (GRCh38/hg38)
- Size:
- 213,689 bases
- Orientation:
- Minus strand
- chr21:45,917,775-46,131,495
- (GRCh37/hg19)
Genomic View for TSPEAR Gene
Genes around TSPEAR on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 21q22.3 by Ensembl
- 21q22.3 by Entrez Gene
- 21q22.3 by HGNC
TSPEAR Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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};
Post-translational modifications for TSPEAR Gene
Other Protein References for TSPEAR Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
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-
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Protein Products
-
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Assay Products
No data available for DME Specific Peptides for TSPEAR Gene
Domains & Families for TSPEAR Gene
Gene Families for TSPEAR Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
- Predicted secreted proteins
Protein Domains for TSPEAR Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for TSPEAR Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for TSPEAR Gene
Function for TSPEAR Gene
Molecular function for TSPEAR Gene
- UniProtKB/Swiss-Prot Function:
- May play a role in development or function of the auditory system.
Phenotypes From GWAS Catalog for TSPEAR Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003674 | molecular_function | ND | -- |
Phenotypes for TSPEAR Gene
- GenomeRNAi human phenotypes for TSPEAR:
Animal Model Products
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-
-
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-
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CRISPR Products
-
OriGene CRISPR knockouts for TSPEAR
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- Overview of 48 available TSPEAR gene related products
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-
Vectors and viruses for KO, Activation, Repression, and more
-
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Inhibitory RNA Products
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-
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Clone Products
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-
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- Mammalian expression: PiggyBac
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- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
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-
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Cell Line Products
-
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-
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-
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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}.
| Compartment | Confidence |
|---|---|
| extracellular | 4 |
| plasma membrane | 3 |
| mitochondrion | 1 |
| nucleus | 1 |
| lysosome | 1 |
| 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 | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for TSPEAR Gene
Pathways & Interactions for TSPEAR Gene
No Data Available
Interacting Proteins for TSPEAR Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007605 | sensory perception of sound | IEA,IMP | 22678063 |
No data available for Pathways by source and SIGNOR curated interactions for TSPEAR Gene
Transcripts for TSPEAR Gene
mRNA/cDNA for TSPEAR Gene
- (2) REFSEQ mRNAs :
- (4) Additional mRNA sequences :
- (11) Selected AceView cDNA sequences:
- (4) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for TSPEAR Gene
- Thrombospondin-type laminin G domain and EAR repeats:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for TSPEAR
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-
Vectors and viruses for KO, Activation, Repression, and more
-
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Inhibitory RNA Products
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- Overview of 48 available TSPEAR gene related products
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ViGene Biosciences ready-to-package AAV shRNAs for TSPEAR gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for TSPEAR
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for TSPEAR
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression 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).
NURSA nuclear receptor signaling pathways regulating expression of TSPEAR Gene:
TSPEARSOURCE GeneReport for Unigene cluster for TSPEAR Gene:
Hs.660703Evidence 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
Primer Products
-
OriGene qPCR primer pairs for TSPEAR
- genomics-online: primer clones - Search results for 48 available TSPEAR gene related products
- Overview of 48 available TSPEAR gene related products
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | TSPEAR 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | LOC611461 33 |
|
||
| TSPEAR 34 |
|
OneToOne | |||
| cow (Bos Taurus) |
Mammalia | TSPEAR 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Tspear 33 16 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | TSPEAR 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | TSPEAR 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | TSPEAR 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | TSPEAR 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | tspear 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | tspearb 33 34 |
|
||
| tspeara 34 |
|
OneToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany |
- Species where no ortholog for TSPEAR was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 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)
Paralogs for TSPEAR Gene
(1) SIMAP similar genes for TSPEAR Gene using alignment to 2 proteins:
No data available for Paralogs for TSPEAR Gene
Variants for TSPEAR Gene
| SNP ID | Clin | Chr 21 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs452472 | uncertain-significance, Ductal breast carcinoma | 44,558,709(-) | T/C | intron_variant | |
| rs782068174 | A colorectal cancer sample | 44,533,731(-) | C/T | coding_sequence_variant, missense_variant | |
| rs140542643 | conflicting-interpretations-of-pathogenicity, not specified | 44,567,919(-) | G/A | 5_prime_UTR_variant, coding_sequence_variant, missense_variant | |
| rs11910525 | likely-benign, not provided | 44,540,129(-) | C/T | intron_variant | |
| rs143765249 | likely-benign, not provided | 44,638,127(-) | G/A | intron_variant |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TSPEAR Gene
Disorders for TSPEAR Gene
(3) MalaCards diseases for TSPEAR Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| deafness, autosomal recessive 98 |
|
|
| autosomal recessive non-syndromic sensorineural deafness type dfnb |
|
|
| deafness, autosomal recessive 8 |
|
|
Search TSPEAR in MalaCards
View complete list of genes associated with diseases
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.
Additional Disease Information for TSPEAR
No data available for Genatlas for TSPEAR Gene
Publications for TSPEAR Gene
- 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 58
- A common protein interaction domain links two recently identified epilepsy genes. (PMID: 12095917) Scheel H … Hofmann K (Human molecular genetics 2002) 2 3 4 58
- 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 58
- Human gingiva transcriptome during wound healing. (PMID: 28005267) Wang Y … Tatakis DN (Journal of clinical periodontology 2017) 3 58
- 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 58
Products for TSPEAR Gene
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 36 available TSPEAR Antibodies ranked by validation data
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- Overview of 48 available TSPEAR gene related products
Sources for TSPEAR Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
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