Gene Gene information from NCBI Gene database.
Entrez ID 51341
Gene name Zinc finger and BTB domain containing 7A
Gene symbol ZBTB7A
Synonyms (NCBI Gene)
FBI-1FBI1LRFMNDLFHTIP21ZBTB7ZNF857Apokemon
Chromosome 19
Chromosome location 19p13.3
miRNA miRNA information provided by mirtarbase database.
1031
miRTarBase ID miRNA Experiments Reference
MIRT048760 hsa-miR-93-5p CLASH 23622248
MIRT046756 hsa-miR-222-3p CLASH 23622248
MIRT438923 rno-miR-21-5p Luciferase reporter assayqRT-PCR 23355454
MIRT438923 rno-miR-21-5p Luciferase reporter assayqRT-PCR 23355454
MIRT438923 rno-miR-21-5p Luciferase reporter assayqRT-PCR 23355454
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
63
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 20812024
GO:0000381 Process Regulation of alternative mRNA splicing, via spliceosome IDA 24514149
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605878 18078 ENSG00000178951
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O95365
Protein name Zinc finger and BTB domain-containing protein 7A (Factor binding IST protein 1) (FBI-1) (Factor that binds to inducer of short transcripts protein 1) (HIV-1 1st-binding protein 1) (Leukemia/lymphoma-related factor) (POZ and Krueppel erythroid myeloid onto
Protein function Transcription factor that represses the transcription of a wide range of genes involved in cell proliferation and differentiation (PubMed:14701838, PubMed:17595526, PubMed:20812024, PubMed:25514493, PubMed:26455326, PubMed:26816381). Directly an
PDB 2IF5 , 2NN2 , 7EYI , 7N5S , 7N5T , 7N5U , 7N5V , 7N5W , 8E3D , 8E3E , 8H9H
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00651 BTB 24 131 BTB/POZ domain Domain
PF00096 zf-C2H2 410 432 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 438 460 Zinc finger, C2H2 type Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed (PubMed:9927193). In normal thymus, expressed in medullary epithelial cells and Hassle's corpuscles (at protein level) (PubMed:15662416). In tonsil, expressed in squamous epithelium and germinal center lymphocytes (at
Sequence
MAGGVDGPIGIPFPDHSSDILSGLNEQRTQGLLCDVVILVEGREFPTHRSVLAACSQYFK
KLFTSGAVVDQQNVYEIDFVSAEALTALMDFAYTATLTVSTANVGDILSAARLLEIPAVS
HVCADLLDRQI
LAADAGADAGQLDLVDQIDQRNLLRAKEYLEFFQSNPMNSLPPAAAAAA
ASFPWSAFGASDDDLDATKEAVAAAVAAVAAGDCNGLDFYGPGPPAERPPTGDGDEGDSN
PGLWPERDEDAPTGGLFPPPVAPPAATQNGHYGRGGEEEAASLSEAAPEPGDSPGFLSGA
AEGEDGDGPDVDGLAASTLLQQMMSSVGRAGAAAGDSDEESRADDKGVMDYYLKYFSGAH
DGDVYPAWSQKVEKKIRAKAFQKCPICEKVIQGAGKLPRHIRTHTGEKPYECNICKVRFT
RQDKLKVHMRKH
TGEKPYLCQQCGAAFAHNYDLKNHMRVHTGLRPYQCDSCCKTFVRSDH
LHRHLKKDGCNGVPSRRGRKPRVRGGAPDPSPGATATPGAPAQPSSPDARRNGQEKHFKD
EDEDEDVASPDGLGRLNVAGAGGGGDSGGGPGAATDGNFTAGLA
Sequence length 584
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
13
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin Pathogenic; Likely pathogenic rs773655534, rs2144972709, rs2144994347, rs2144989820, rs2144992092, rs2144973693, rs749935719, rs1555693029 RCV001840943
RCV001840944
RCV001840945
RCV001840946
RCV002260915
RCV004594640
RCV003153013
RCV004595277
Neurodevelopmental delay Pathogenic rs2144973210 RCV002274429
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ZBTB7A-related disorder Uncertain significance rs2512265831, rs2512277851, rs1410611113 RCV003412447
RCV003416730
RCV003899111
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 19244234, 33878706
Anemia Sickle Cell Associate 30285874, 40665149
Ascites Associate 21176152
Asthma Associate 39643224
Atherosclerosis Associate 24819318
Breast Neoplasms Associate 20471975, 20957096, 21392388, 21640721
Carcinogenesis Associate 21640721, 22754333, 23874836, 25192290, 28942243
Carcinoma Associate 21176152
Carcinoma Hepatocellular Associate 20471975, 21771706, 22754333, 26164003, 26227218
Carcinoma Hepatocellular Stimulate 23874836