Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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57616
|
Gene name
Gene Name - the full gene name approved by the HGNC.
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Teashirt zinc finger homeobox 3 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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TSHZ3 |
Synonyms (NCBI Gene)
Gene synonyms aliases
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TSH3, ZNF537 |
Chromosome
Chromosome number
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19 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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19q12 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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This gene encodes a zinc-finger transcription factor that regulates smooth muscle cell differentiation in the developing urinary tract. Consistent with this role, mice in which this gene has been inactivated exhibit abnormal gene expression in urinary tra |
UniProt ID |
Q63HK5
|
Protein name |
Teashirt homolog 3 (Zinc finger protein 537) |
Protein function |
Transcriptional regulator involved in developmental processes. Functions in association with APBB1, SET and HDAC factors as a transcriptional repressor, that inhibits the expression of CASP4. TSHZ3-mediated transcription repression involves the |
PDB |
2DMI
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Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF13912
|
zf-C2H2_6 |
276 → 302 |
|
Domain |
|
Tissue specificity |
TISSUE SPECIFICITY: Expressed in brain; strongly reduced in post-mortem elderly subjects with Alzheimer disease (PubMed:18776146, PubMed:19343227). Expressed in the fetal neocortex (PubMed:27668656). {ECO:0000269|PubMed:18776146, ECO:0000269|PubMed:193432 |
Sequence |
MPRRKQQAPRRAAAYVSEELKAAALVDEGLDPEEHTADGEPSAKYMCPEKELARACPSYQ NSPAAEFSCHEMDSESHISETSDRMADFESGSIKNEEETKEVTVPLEDTTVSDSLEQMKA VYNNFLSNSYWSNLNLNLHQPSSEKNNGSSSSSSSSSSSCGSGSFDWHQSAMAKTLQQVS QSRMLPEPSLFSTVQLYRQSSKLYGSIFTGASKFRCKDCSAAYDTLVELTVHMNETGHYR DDNHETDNNNPKRWSKPRKRSLLEMEGKEDAQKVLKCMYCGHSFESLQDLSVHMIKTKHY QKVPLKEPVTPVAAKIIPATRKKASLELELPSSPDSTGGTPKATISDTNDALQKNSNPYI TPNNRYGHQNGASYAWHFEARKSQILKCMECGSSHDTLQELTAHMMVTGHFIKVTNSAMK KGKPIVETPVTPTITTLLDEKVQSVPLAATTFTSPSNTPASISPKLNVEVKKEVDKEKAV TDEKPKQKDKPGEEEEKCDISSKYHYLTENDLEESPKGGLDILKSLENTVTSAINKAQNG TPSWGGYPSIHAAYQLPNMMKLSLGSSGKSTPLKPMFGNSEIVSPTKNQTLVSPPSSQTS PMPKTNFHAMEELVKKVTEKVAKVEEKMKEPDGKLSPPKRATPSPCSSEVGEPIKMEASS DGGFRSQENSPSPPRDGCKDGSPLAEPVENGKELVKPLASSLSGSTAIITDHPPEQPFVN PLSALQSVMNIHLGKAAKPSLPALDPMSMLFKMSNSLAEKAAVATPPPLQSKKADHLDRY FYHVNNDQPIDLTKGKSDKGCSLGSVLLSPTSTAPATSSSTVTTAKTSAVVSFMSNSPLR ENALSDISDMLKNLTESHTSKSSTPSSISEKSDIDGATLEEAEESTPAQKRKGRQSNWNP QHLLILQAQFAASLRQTSEGKYIMSDLSPQERMHISRFTGLSMTTISHWLANVKYQLRRT GGTKFLKNLDTGHPVFFCNDCASQIRTPSTYISHLESHLGFRLRDLSKLSTEQINSQIAQ TKSPSEKMVTSSPEEDLGTSYQCKLCNRTFASKHAVKLHLSKTHGKSPEDHLLYVSELEK Q
|
|
Sequence length |
1081 |
Interactions |
View interactions
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Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Autism spectrum disorder |
Autism Spectrum Disorders |
rs724159978, rs75184679, rs119103221, rs9332964, rs121912562, rs1594344233, rs727504317, rs111033204, rs1801086, rs587784464, rs724159948, rs764659822, rs794727977, rs796052733, rs796052728, rs762292772, rs864321694, rs869312878, rs758432471, rs750896617, rs886039692, rs886039770, rs201037487, rs200483989, rs1057518198, rs1057517708, rs780267761, rs1555910143, rs1057519632, rs775225727, rs751037529, rs1064794848, rs1064795655, rs1131691548, rs1135401811, rs1553248081, rs1454466097, rs1554480537, rs1553578503, rs1553518509, rs774152851, rs1554481395, rs1554464807, rs1554401434, rs1561824498, rs1396313317, rs1564801388, rs1564801473, rs1564950387, rs1565527302, rs1569513495, rs1569305431, rs143944436, rs1563183492, rs1561846159, rs1565819425, rs1562957809, rs1585645641, rs1585016242, rs1595127294, rs1585667374, rs1585653028, rs1585653240, rs1592919048, rs1585645384, rs1789927813 View all (51 more) |
27668656 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Chronic obstructive pulmonary disease |
Chronic Obstructive Airway Disease |
|
26634245 |
ClinVar |
Autism Spectrum Disorder |
autism spectrum disorder |
|
|
GenCC |
Diabetes |
Diabetes |
|
|
GWAS |
Hyperopia |
Hyperopia |
|
|
GWAS |
Hypertension |
Hypertension |
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|
GWAS |
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Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Breast Neoplasms |
Associate
|
21423795 |
Carcinoma Non Small Cell Lung |
Associate
|
28296343 |
Esophageal Neoplasms |
Associate
|
37445849 |
Glioma |
Associate
|
28780604 |
Hodgkin Disease |
Associate
|
19177201 |
Mental Disorders |
Associate
|
30545854 |
Neoplasms |
Inhibit
|
21423795 |
Pediatric acute onset neuropsychiatric syndrome |
Associate
|
30545854 |
|