Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
221895
Gene name Gene Name - the full gene name approved by the HGNC.
JAZF zinc finger 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
JAZF1
Synonyms (NCBI Gene) Gene synonyms aliases
TIP27, ZNF802
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p15.2-p15.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a nuclear protein with three C2H2-type zinc fingers, and functions as a transcriptional repressor. Chromosomal aberrations involving this gene are associated with endometrial stromal tumors. Alternatively spliced variants which encode di
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004973 hsa-miR-31-5p Luciferase reporter assay, qRT-PCR 19524507
MIRT027883 hsa-miR-96-5p Sequencing 20371350
MIRT052411 hsa-let-7a-5p CLASH 23622248
MIRT051478 hsa-let-7e-5p CLASH 23622248
MIRT612856 hsa-miR-377-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 15302918
GO:0001650 Component Fibrillar center IDA
GO:0003714 Function Transcription corepressor activity IDA 15302918
GO:0005515 Function Protein binding IPI 15302918, 32296183, 33961781, 35016035
GO:0005634 Component Nucleus IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606246 28917 ENSG00000153814
Protein
UniProt ID Q86VZ6
Protein name Juxtaposed with another zinc finger protein 1 (TAK1-interacting protein 27) (Zinc finger protein 802)
Protein function Acts as a transcriptional corepressor of orphan nuclear receptor NR2C2 (PubMed:15302918). Inhibits expression of the gluconeogenesis enzyme PCK2 through inhibition of NR2C2 activity (By similarity). Also involved in transcriptional activation of
Family and domains
Tissue specificity TISSUE SPECIFICITY: Highest expression in testis with moderate levels in colon, placenta, prostate and ovary and low levels in brain, spleen, liver and small intestine. {ECO:0000269|PubMed:15302918}.
Sequence
MTGIAAASFFSNTCRFGGCGLHFPTLADLIEHIEDNHIDTDPRVLEKQELQQPTYVALSY
INRFMTDAARREQESLKKKIQPKLSLTLSSSVSRGNVSTPPRHSSGSLTPPVTPPITPSS
SFRSSTPTGSEYDEEEVDYEESDSDESWTTESAISSEAILSSMCMNGGEEKPFACPVPGC
KKRYKNVNGIKYHAKNGHRTQIRVRKPFKCRCGKSYKTAQGLRHHTINFHPPVSAEIIRK
MQQ
Sequence length 243
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma (childhood onset), Atopic asthma, Asthma, Asthma (adult onset), Asthma onset (childhood vs adult) N/A N/A GWAS
Carcinoma Basal cell carcinoma N/A N/A GWAS
Crohn Disease Crohn's disease N/A N/A GWAS
Diabetes Type 2 diabetes or prostate cancer (pleiotropy), Type 2 diabetes with neurological manifestations (PheCode 250.24), Type 2 diabetes with renal manifestations (PheCode 250.22), Type 2 diabetes with ophthalmic manifestations (PheCode 250.23), Type 2 diabetes (PheCode 250.2), Type 2 diabetes, Diabetes, Body mass index and type 2 diabetes (pairwise) N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenosarcoma Associate 36639698
Adenosarcoma of the uterus Associate 36639698
Alzheimer Disease Associate 38511601
Arteriolosclerosis Associate 24135527
Arthritis Juvenile Associate 30940621
Arthritis Rheumatoid Stimulate 29193869
Arthritis Rheumatoid Associate 31945409
Asthma Associate 31945409
Breast Neoplasms Associate 33728753
Carcinogenesis Associate 24801046, 32856873, 33728753, 35649353