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Gene Gene information from NCBI Gene database.
Entrez ID 166793
Gene name Zinc finger and BTB domain containing 49
Gene symbol ZBTB49
Synonyms (NCBI Gene)
ZNF509
Chromosome 4
Chromosome location 4p16.3
miRNA miRNA information provided by mirtarbase database.
115 Show/Hide all (115)
miRTarBase ID miRNA Experiments Reference
MIRT529714 hsa-miR-4779 PAR-CLIP 22012620
MIRT529713 hsa-miR-556-5p PAR-CLIP 22012620
MIRT529712 hsa-miR-10b-3p PAR-CLIP 22012620
MIRT529711 hsa-miR-4768-3p PAR-CLIP 22012620
MIRT529710 hsa-miR-4459 PAR-CLIP 22012620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24 Show/Hide all (24)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0001223 Function Transcription coactivator binding IPI 25245946
GO:0001227 Function DNA-binding transcription repressor activity, RNA polymerase II-specific IBA
GO:0001817 Process Regulation of cytokine production IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616238 19883 ENSG00000168826
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6ZSB9
Protein name Zinc finger and BTB domain-containing protein 49 (Zinc finger protein 509)
Protein function Transcription factor. Inhibits cell proliferation by activating either CDKN1A/p21 transcription or RB1 transcription. ; [Isoform 1]: Binds CDKN1A promoter and activates its transcription; this activity is
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00096 zf-C2H2 423 → 445 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 395 → 417 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 563 → 585 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 535 → 557 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 451 → 473 Zinc finger, C2H2 type Domain
PF00651 BTB 15 → 121 BTB/POZ domain Domain
PF13912 zf-C2H2_6 506 → 532 Domain
PF13912 zf-C2H2_6 479 → 503 Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in normal epidermis and in other epithelial tissues, including in colon and lung. Tends to be down-regulated in colon, lung and skin cancer tissues. {ECO:0000269|PubMed:25245946}.
Sequence
MDPVATHSCHLLQQLHEQRIQGLLCDCMLVVKGVCFKAHKNVLAAFSQYFRSLFQNSSSQ
KNDVFHLDVKNVSGIGQILDFMYTSHLDLNQDNIQVMLDTAQCLQVQNVLSLCHTFLKSA
T
VVQPPGMPCNSTLSLQSTLTPDATCVISENYPPHLLQECSADAQQNKTLDESHPHASPS
VNRHHSAGEISKQAPDTSDGSCTELPFKQPNYYYKLRNFYSKQYHKHAAGPSQERVVEQP
FAFSTSTDLTTVESQPCAVSHSECILESPEHLPSNFLAQPVNDSAPHPESDATCQQPVKQ
MRLKKAIHLKKLNFLKSQKYAEQVSEPKSDDGLTKRLESASKNTLEKASSQSAEEKESEE
VVSCENFNCISETERPEDPAALEDQSQTLQSQRQYACELCGKPFKHPSNLELHKRSHTGE
KPFECNICGKHFSQAGNLQTHLRRHSGEKPYICEICGKRFAASGDVQRHIIIHSGEKPHL
CDICGRGFSNFSNLKEHKKTHTA
DKVFTCDECGKSFNMQRKLVKHRIRHTGERPYSCSAC
GKCFGGSGDLRRHVRTH
TGEKPYTCEICNKCFTRSAVLRRHKKMHCKAGDESPDVLEELS
QAIETSDLEKSQSSDSFSQDTSVTLMPVSVKLPVHPVENSVAEFDSHSGGSYCKLRSMIQ
PHGVSDQEKLSLDPGKLAKPQMQQTQPQAYAYSDVDTPAGGEPLQADGMAMIRSSLAALD
NHGGDPLGSRASSTTYRNSEGQFFSSMTLWGLAMKTLQNENELDQ
Sequence length 765
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
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.
Show/Hide Unknown Diseases (11)
Phenotype Name Clinical Significance Source Reference Evidence Score
Acute myeloid leukemia Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colorectal cancer Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma Benign ClinVar —
★★★★★
★★☆☆☆
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
Colorectal Neoplasms Colorectal neoplasm Pubtator 24349560, 39596218 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 25245946
★★★★★
★☆☆☆☆
Found in Text Mining only
Retinoblastoma Retinoblastoma Pubtator 25245946 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only