Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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54897
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Castor zinc finger 1 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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CASZ1 |
Synonyms (NCBI Gene)
Gene synonyms aliases
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CAS11, CST, SRG, ZNF693, dJ734G22.1 |
Chromosome
Chromosome number
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1 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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1p36.22 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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The protein encoded by this gene is a zinc finger transcription factor. The encoded protein may function as a tumor suppressor, and single nucleotide polymorphisms in this gene are associated with blood pressure variation. Alternative splicing results in |
UniProt ID |
Q86V15
|
Protein name |
Zinc finger protein castor homolog 1 (Castor-related protein) (Putative survival-related protein) (Zinc finger protein 693) |
Protein function |
Transcriptional activator (PubMed:23639441, PubMed:27693370). Involved in vascular assembly and morphogenesis through direct transcriptional regulation of EGFL7 (PubMed:23639441). |
Family and domains |
|
Tissue specificity |
TISSUE SPECIFICITY: Expressed in heart, lung, skeletal muscle, pancreas, testis, small intestine, and stomach, but it is not detectable in the adult brain. {ECO:0000269|PubMed:16631614}. |
Sequence |
MDLGTAEGTRCTDPPAGKPAMAPKRKGGLKLNAICAKLSRQVVVEKRADAGSHTEGSPSQ PRDQERSGPESGAARAPRSEEDKRRAVIEKWVNGEYSEEPAPTPVLGRIAREGLELPPEG VYMVQPQGCSDEEDHAEEPSKDGGALEEKDSDGAASKEDSGPSTRQASGEASSLRDYAAS TMTEFLGMFGYDDQNTRDELARKISFEKLHAGSTPEAATSSMLPTSEDTLSKRARFSKYE EYIRKLKAGEQLSWPAPSTKTEERVGKEVVGTLPGLRLPSSTAHLETKATILPLPSHSSV QMQNLVARASKYDFFIQKLKTGENLRPQNGSTYKKPSKYDLENVKYLHLFKPGEGSPDMG GAIAFKTGKVGRPSKYDVRGIQKPGPAKVPPTPSLAPAPLASVPSAPSAPGPGPEPPASL SFNTPEYLKSTFSKTDSITTGTVSTVKNGLPTDKPAVTEDVNIYQKYIARFSGSQHCGHI HCAYQYREHYHCLDPECNYQRFTSKQDVIRHYNMHKKRDNSLQHGFMRFSPLDDCSVYYH GCHLNGKSTHYHCMQVGCNKVYTSTSDVMTHENFHKKNTQLINDGFQRFRATEDCGTADC QFYGQKTTHFHCRRPGCTFTFKNKCDIEKHKSYHIKDDAYAKDGFKKFYKYEECKYEGCV YSKATNHFHCIRAGCGFTFTSTSQMTSHKRKHERRHIRSSGALGLPPSLLGAKDTEHEES SNDDLVDFSALSSKNSSLSASPTSQQSSASLAAATAATEAGPSATKPPNSKISGLLPQGL PGSIPLALALSNSGLPTPTPYFPILAGRGSTSLPVGTPSLLGAVSSGSAASATPDTPTLV ASGAGDSAPVAAASVPAPPASIMERISASKGLISPMMARLAAAALKPSATFDPGSGQQVT PARFPPAQVKPEPGESTGAPGPHEASQDRSLDLTVKEPSNESNGHAVPANSSLLSSLMNK MSQGNPGLGSLLNIKAEAEGSPAAEPSPFLGKAVKALVQEKLAEPWKVYLRRFGTKDFCD GQCDFLHKAHFHCVVEECGALFSTLDGAIKHANFHFRTEGGAAKGNTEAAFPASAAETKP PMAPSSPPVPPVTTATVSSLEGPAPSPASVPSTPTLLAWKQLASTIPQMPQIPASVPHLP ASPLATTSLENAKPQVKPGFLQFQENDPCLATDCKYANKFHFHCLFGNCKYVCKTSGKAE SHCLDHINPNNNLVNVRDQFAYYSLQCLCPNQHCEFRMRGHYHCLRTGCYFVTNITTKLP WHIKKHEKAERRAANGFKYFTKREECGRLGCKYNQVNSHFHCIREGCQFSFLLKHQMTSH ARKHMRRMLGKNFDRVPPSQGPPGLMDAETDECMDYTGCSPGAMSSESSTMDRSCSSTPV GNESTAAGNTISMPTASGAKKRFWIIEDMSPFGKRRKTASSRKMLDEGMMLEGFRRFDLY EDCKDAACQFSLKVTHYHCTRENCGYKFCGRTHMYKHAQHHDRVDNLVLDDFKRFKASLS CHFADCPFSGTSTHFHCLRCRFRCTDSTKVTAHRKHHGKQDVISAAGFCQFSSSADCAVP DCKYKLKCSHFHCTFPGCRHTVVGMSQMDSHKRKHEKQERGEPAAEGPAPGPPISLDGSL SLGAEPGSLLFLQSAAAGLGLALGDAGDPGPPDAAAPGPREGAAAAAAAAGESSQEDEEE ELELPEEEAEDDEDEDDDEDDDDEDDDEDDDDEDLRTDSEESLPEAAAEAAGAGARTPAL AALAALGAPGPAPTAASSP
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Sequence length |
1759 |
Interactions |
View interactions
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Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Atrial fibrillation |
Atrial Fibrillation |
rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557, rs587777558, rs587777559, rs587777560, rs886037778, rs769405762, rs770372675 View all (6 more) |
30061737, 29892015 |
Breast carcinoma |
Breast Carcinoma |
rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038 View all (71 more) |
29059683 |
Hypertension |
Hypertensive disease |
rs13306026 |
25249183, 30487518, 31545351 |
Prostate cancer |
Malignant neoplasm of prostate |
rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 |
29662167 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Chronic obstructive pulmonary disease |
Chronic Obstructive Airway Disease |
|
30940143 |
ClinVar |
Ischemic stroke |
Ischemic stroke |
|
29531354 |
ClinVar |
Paroxysmal atrial fibrillation |
Paroxysmal atrial fibrillation |
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30061737, 29892015 |
ClinVar |
Uterine Fibroids |
Uterine Fibroids |
|
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GWAS |
Atrial Fibrillation |
Atrial Fibrillation |
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|
GWAS |
Ischemic Stroke |
Ischemic Stroke |
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|
GWAS |
Breast Cancer |
Breast Cancer |
Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients |
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GWAS, CBGDA |
Diabetes |
Diabetes |
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|
GWAS |
Heart Failure |
Heart Failure |
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|
GWAS |
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Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Adenocarcinoma of Lung |
Associate
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33029490 |
Carcinoma Hepatocellular |
Associate
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34147074 |
Carcinoma Renal Cell |
Associate
|
31481981 |
Carcinoma Squamous Cell |
Inhibit
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38458428 |
Cardiomyopathy Dilated |
Associate
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31268246, 36293425 |
Cardiomyopathy Dilated with Left Ventricular Noncompaction |
Associate
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31268246 |
Cardiovascular Diseases |
Associate
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34895303 |
Chronic Disease |
Associate
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31570750, 35218958 |
Colorectal Neoplasms |
Associate
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26474385 |
Dermatitis Atopic |
Inhibit
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38458428 |
Developmental Disabilities |
Associate
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33004838 |
Heart Defects Congenital |
Associate
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35737725 |
Heart Murmurs |
Associate
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34793544 |
Heart Septal Defects Ventricular |
Associate
|
31268246 |
Hypertension |
Associate
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31545351, 34793544 |
Idiopathic Pulmonary Fibrosis |
Associate
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25333685 |
Inflammation |
Associate
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33205602 |
Lung Diseases Interstitial |
Associate
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38575158 |
Lung Neoplasms |
Associate
|
38575158 |
Marfan Syndrome |
Associate
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34895303 |
Melanoma |
Associate
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38077400 |
Neoplasms |
Inhibit
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21252912, 22928040, 23892435, 27270431, 31481981, 36243768 |
Neoplasms |
Associate
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36518628 |
Neuroblastoma |
Inhibit
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21252912, 27270431, 31481981, 36243768 |
Neuroblastoma |
Associate
|
23892435 |
Osteoarthritis |
Associate
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33205602 |
Pancreatic Neoplasms |
Associate
|
36518628 |
Prostatic Neoplasms |
Associate
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37686409 |
Psoriasis |
Inhibit
|
38458428 |
Skin Diseases |
Associate
|
38458428 |
Stroke |
Associate
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28682427 |
Varicose Veins |
Associate
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31570750, 34358671, 35218958, 40108671 |
Vascular Diseases |
Associate
|
28693373 |
|