Gene Gene information from NCBI Gene database.
Entrez ID 221895
Gene name JAZF zinc finger 1
Gene symbol JAZF1
Synonyms (NCBI Gene)
TIP27ZNF802
Chromosome 7
Chromosome location 7p15.2-p15.1
Summary 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.
434
miRTarBase ID miRNA Experiments Reference
MIRT004973 hsa-miR-31-5p Luciferase reporter assayqRT-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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606246 28917 ENSG00000153814
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
62
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 ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Allergic rhinitis (disorder) Allergic rhinitis GWASCAT_DG 30013184
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 38511601 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ankylosing spondylitis Ankylosing Spondylitis GWASCAT_DG 26974007
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Arthritis Juvenile Juvenile arthritis Pubtator 30940621 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 29193869 Stimulate
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 31945409 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis, Gouty Gouty arthritis GWASCAT_DG 22179738
★☆☆☆☆
Found in Text Mining only
Asthma Asthma GWASCAT_DG 30929738, 31619474
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Asthma Asthma Pubtator 31945409 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases Autoimmune Diseases BEFREE 23740937
★☆☆☆☆
Found in Text Mining only