TSHZ3 (teashirt zinc finger homeobox 3)

Gene

• Entrez ID: 57616
• Gene name: Teashirt zinc finger homeobox 3
• Gene symbol: TSHZ3
• Synonyms (NCBI Gene): TSH3, ZNF537
• Chromosome: 19
• Chromosome location: 19q12
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004604	hsa-miR-155-5p	Luciferase reporter assay	19177201
MIRT004604	hsa-miR-155-5p	Review	20026422
MIRT030966	hsa-miR-21-5p	Microarray	18591254
MIRT050311	hsa-miR-25-3p	CLASH	23622248
MIRT046112	hsa-miR-30b-5p	CLASH	23622248
MIRT1458846	hsa-miR-1183	CLIP-seq
MIRT1458847	hsa-miR-1305	CLIP-seq
MIRT1458848	hsa-miR-1910	CLIP-seq
MIRT1458849	hsa-miR-3121-3p	CLIP-seq
MIRT1458850	hsa-miR-340	CLIP-seq
MIRT1458851	hsa-miR-3671	CLIP-seq
MIRT1458852	hsa-miR-3686	CLIP-seq
MIRT1458853	hsa-miR-3924	CLIP-seq
MIRT1458854	hsa-miR-3973	CLIP-seq
MIRT1458855	hsa-miR-409-3p	CLIP-seq
MIRT1458856	hsa-miR-4257	CLIP-seq
MIRT1458857	hsa-miR-4418	CLIP-seq
MIRT1458858	hsa-miR-4652-3p	CLIP-seq
MIRT1458859	hsa-miR-4721	CLIP-seq
MIRT1458860	hsa-miR-4742-3p	CLIP-seq
MIRT1458861	hsa-miR-4744	CLIP-seq
MIRT1458862	hsa-miR-487a	CLIP-seq
MIRT1458863	hsa-miR-488	CLIP-seq
MIRT1458864	hsa-miR-495	CLIP-seq
MIRT1458865	hsa-miR-509-3-5p	CLIP-seq
MIRT1458866	hsa-miR-509-5p	CLIP-seq
MIRT1458867	hsa-miR-510	CLIP-seq
MIRT1458868	hsa-miR-512-5p	CLIP-seq
MIRT1458869	hsa-miR-548k	CLIP-seq
MIRT1458870	hsa-miR-548p	CLIP-seq
MIRT1458871	hsa-miR-568	CLIP-seq
MIRT1458872	hsa-miR-607	CLIP-seq
MIRT2137707	hsa-miR-330-3p	CLIP-seq
MIRT2137708	hsa-miR-4446-5p	CLIP-seq
MIRT2137709	hsa-miR-4755-5p	CLIP-seq
MIRT2137710	hsa-miR-642a	CLIP-seq
MIRT2358543	hsa-miR-1279	CLIP-seq
MIRT2358544	hsa-miR-3065-5p	CLIP-seq
MIRT2358545	hsa-miR-338-5p	CLIP-seq
MIRT2358546	hsa-miR-3688-3p	CLIP-seq
MIRT2358547	hsa-miR-3907	CLIP-seq
MIRT2358548	hsa-miR-3910	CLIP-seq
MIRT2358549	hsa-miR-3977	CLIP-seq
MIRT2358550	hsa-miR-4289	CLIP-seq
MIRT2358551	hsa-miR-505	CLIP-seq
MIRT2358552	hsa-miR-548an	CLIP-seq
MIRT2358553	hsa-miR-802	CLIP-seq
MIRT2396416	hsa-miR-2116	CLIP-seq
MIRT2396417	hsa-miR-4677-5p	CLIP-seq
MIRT2358545	hsa-miR-338-5p	CLIP-seq
MIRT2434369	hsa-miR-4307	CLIP-seq
MIRT2651835	hsa-miR-1272	CLIP-seq
MIRT2651836	hsa-miR-1322	CLIP-seq
MIRT2358545	hsa-miR-338-5p	CLIP-seq
MIRT1458853	hsa-miR-3924	CLIP-seq
MIRT2651837	hsa-miR-4263	CLIP-seq
MIRT2651838	hsa-miR-4517	CLIP-seq
MIRT1458871	hsa-miR-568	CLIP-seq
MIRT2651839	hsa-miR-576-5p	CLIP-seq
MIRT2651835	hsa-miR-1272	CLIP-seq
MIRT2651836	hsa-miR-1322	CLIP-seq
MIRT2358545	hsa-miR-338-5p	CLIP-seq
MIRT1458853	hsa-miR-3924	CLIP-seq
MIRT2651837	hsa-miR-4263	CLIP-seq
MIRT2651838	hsa-miR-4517	CLIP-seq
MIRT2694308	hsa-miR-548c-3p	CLIP-seq
MIRT1458871	hsa-miR-568	CLIP-seq
MIRT2651839	hsa-miR-576-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0002087	Process	Regulation of respiratory gaseous exchange by nervous system process	IBA
GO:0002087	Process	Regulation of respiratory gaseous exchange by nervous system process	ISS
GO:0003677	Function	DNA binding	IBA
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IDA	19343227
GO:0005515	Function	Protein binding	IPI	19343227, 25416956, 31515488, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	19343227
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0008270	Function	Zinc ion binding	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0030426	Component	Growth cone	IEA
GO:0042995	Component	Cell projection	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	19343227
GO:0046872	Function	Metal ion binding	IEA
GO:0051968	Process	Positive regulation of synaptic transmission, glutamatergic	ISS
GO:0060291	Process	Long-term synaptic potentiation	ISS

Other IDs

• MIM: 614119
• HGNC: 30700
• e!Ensembl: ENSG00000121297

Protein

• 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
• 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

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD, GWAS catalog, GenCC CTD, GWAS catalog, GenCC CTD, GWAS catalog, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAKUT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital anomaly of kidney and urinary tract	Uncertain significance	ClinVar GenCC	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CORNEAL ASTIGMATISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENERALIZED ANXIETY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPEROPIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TSHZ3-related disorder	Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenoma	Adenoma	BEFREE	24297486		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	27668656, 31060802		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	CTD_human_DG	27668656		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	27668656		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21423795		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21423795	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	GWASCAT_DG	26634245		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	31648709		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	37445849	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	28780604		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	28780604		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	28780604		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	28780604	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	19177201	Associate	★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	29456666		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21423795		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	21423795		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21423795		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	31060802		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	21423795		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	31060802		★☆☆☆☆ Found in Text Mining only