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This gene encodes a colon cancer antigen that was defined by serological analysis of recombinant cDNA expression libraries. The encoded protein is a member of the teashirt C2H2-type zinc-finger protein family and may be involved in transcriptional regulation of developmental processes. Mutations in this gene may be associated with congenital aural atresia syndrome. [provided by RefSeq, Jan 2012]
TSHZ1 (Teashirt Zinc Finger Homeobox 1) is a Protein Coding gene. Diseases associated with TSHZ1 include Aural Atresia, Congenital and External Auditory Canal Aplasia/Hypoplasia. An important paralog of this gene is TSHZ3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003677 | DNA binding | IEA | -- |
GO:0003682 | chromatin binding | IBA | 21873635 |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006357 | regulation of transcription by RNA polymerase II | IBA | 21873635 |
GO:0007275 | multicellular organism development | IEA | -- |
GO:0009952 | anterior/posterior pattern specification | IEA | -- |
GO:0010468 | regulation of gene expression | IEA | -- |
GO:0042474 | middle ear morphogenesis | IEA | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TSHZ1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TSHZ1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Tshz1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tshz1 30 |
|
||
Cow (Bos Taurus) |
Mammalia | TSHZ1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | TSHZ1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | TSHZ1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TSHZ1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TSHZ1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC101730769 30 |
|
||
Str.14430 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | tshz1 30 31 |
|
OneToOne | |
sdccag33 30 |
|
||||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.5824 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 18 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
768943 | Benign: not provided | 75,288,221(+) | C/T | SYNONYMOUS_VARIANT | |
rs111329836 | Likely Benign: Aural atresia, congenital | 75,286,946(+) | G/T | SYNONYMOUS_VARIANT | |
rs111787453 | Likely Benign: Aural atresia, congenital | 75,287,449(+) | C/T | MISSENSE_VARIANT | |
rs112669427 | Likely Benign: Aural atresia, congenital; not provided | 75,285,910(+) | C/T | MISSENSE_VARIANT | |
rs113033195 | Likely Benign: Aural atresia, congenital | 75,287,608(+) | T/C | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3643133 | CNV | loss | 21293372 |
nsv1071863 | CNV | deletion | 25765185 |
nsv1121956 | CNV | deletion | 24896259 |
nsv1143883 | CNV | deletion | 24896259 |
nsv132006 | CNV | deletion | 16902084 |
nsv132104 | CNV | deletion | 16902084 |
nsv458299 | CNV | loss | 19166990 |
nsv577657 | CNV | loss | 21841781 |
nsv833695 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
aural atresia, congenital |
|
|
external auditory canal aplasia/hypoplasia |
|
|
contractural arachnodactyly, congenital |
|
|
chromosome 18q deletion syndrome |
|
|
distal arthrogryposis |
|
|