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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 (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.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003674 | molecular_function | ND | -- |
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 | -- |
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 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TSPEAR 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | LOC611461 30 |
|
||
TSPEAR 31 |
|
OneToOne | |||
Cow (Bos Taurus) |
Mammalia | TSPEAR 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Tspear 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | TSPEAR 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | TSPEAR 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TSPEAR 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TSPEAR 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tspear 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | tspearb 30 31 |
|
OneToMany | |
tspeara 31 |
|
OneToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
deafness, autosomal recessive 98 |
|
|
ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis |
|
|
autosomal recessive non-syndromic sensorineural deafness type dfnb |
|
|
ectodermal dysplasia |
|
|
tooth agenesis |
|
|