Gene Gene information from NCBI Gene database.
Entrez ID 92999
Gene name Zinc finger and BTB domain containing 47
Gene symbol ZBTB47
Synonyms (NCBI Gene)
ZNF651
Chromosome 3
Chromosome location 3p22.1
miRNA miRNA information provided by mirtarbase database.
436
miRTarBase ID miRNA Experiments Reference
MIRT030701 hsa-miR-21-5p Microarray 18591254
MIRT049998 hsa-miR-28-5p CLASH 23622248
MIRT048322 hsa-miR-106a-5p CLASH 23622248
MIRT519991 hsa-miR-495-3p PAR-CLIP 20371350
MIRT519990 hsa-miR-5688 PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
GO ID Ontology Definition Evidence Reference
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0003677 Function DNA binding IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619969 26955 ENSG00000114853
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UFB7
Protein name Zinc finger and BTB domain-containing protein 47 (Zinc finger protein 651)
Protein function May be involved in transcriptional regulation.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00651 BTB 4 113 BTB/POZ domain Domain
PF00096 zf-C2H2 436 459 Zinc finger, C2H2 type Domain
PF12874 zf-met 520 542 Domain
PF00096 zf-C2H2 548 570 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 576 598 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 632 654 Zinc finger, C2H2 type Domain
Sequence
MGRLNEQRLFQPDLCDVDLVLVPQRSVFPAHKGVLAAYSQFFHSLFTQNKQLQRVELSLE
ALAPGGLQQILNFIYTSKLLVNAANVHEVLSAASLLQMADIAASCQELLDARS
LGPPGPG
TVALAQPAASCTPAAPPYYCDIKQEADTPGLPKIYAREGPDPYSVRVEDGAGTAGGTVPA
TIGPAQPFFKEEKEGGVEEAGGPPASLCKLEGGEELEEELGGSGTYSRREQSQIIVEVNL
NNQTLHVSTGPEGKPGAGPSPATVVLGREDGLQRHSDEEEEDDEEEEEEEEEEEGGGSGR
EEEEEEEGGSQGEEEEEEEDGHSEQEEEEEEEEEEGPSEQDQESSEEEEGEEGEAGGKQG
PRGSRSSRADPPPHSHMATRSRENARRRGTPEPEEAGRRGGKRPKPPPGVASASARGPPA
TDGLGAKVKLEEKQHHPCQKCPRVFNNRWYLEKHMNVTHSRMQICDQCGKRFLLESELLL
HRQTDCERNIQCVTCGKAFKKLWSLHEHNKIVHGYAEKKFSCEICEKKFYTMAHVRKHMV
AH
TKDMPFTCETCGKSFKRSMSLKVHSLQHSGEKPFRCENCNERFQYKYQLRSHMSIHIG
HKQFMCQWCGKDFNMKQYFDEHMKTHTGEKPYICEICGKSFTSRPNMKRHRRTHTGEKPY
PCDVCGQRFRFSNMLKAHKEKCFRVSHTLAGDGVPAAPGLPPTQPQAHALPLLPGLPQTL
PPPPHLPPPPPLFPTTASPGGRMNANN
Sequence length 747
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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
COMPLEX NEURODEVELOPMENTAL DISORDER GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Neurodevelopmental delay Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Seizure Uncertain significance 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
Autism Spectrum Disorder Autism Pubtator 37743782 Associate
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Developmental disability Pubtator 37743782 Associate
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Intellectual developmental disorder Pubtator 37743782 Associate
★☆☆☆☆
Found in Text Mining only
Osteosarcoma Osteosarcoma Pubtator 35610231 Associate
★☆☆☆☆
Found in Text Mining only
Seizures Seizures Pubtator 37743782 Associate
★☆☆☆☆
Found in Text Mining only