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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
19
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
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
View all (3 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental delay Pathogenic rs2144973210 RCV002274429
★★★★☆
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
CHRONIC LYMPHOCYTIC LEUKEMIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DISORDER OF PHARYNX GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ERYTHEMATOSQUAMOUS DERMATOSIS 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
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 10673740
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 30251205
★☆☆☆☆
Found in Text Mining only
Acute Myeloid Leukemia (AML-M2) Leukemia CTD_human_DG 27798625
★☆☆☆☆
Found in Text Mining only
Acute Myeloid Leukemia, M1 Myeloid Leukemia CTD_human_DG 27798625
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 19244234
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 29764865
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 10673740
★☆☆☆☆
Found in Text Mining only
Anemia Sickle Cell Sickle cell anemia Pubtator 30285874, 40665149 Associate
★☆☆☆☆
Found in Text Mining only
Aortic Valve Insufficiency Aortic Valve Insufficiency BEFREE 20812024
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 39643224 Associate
★☆☆☆☆
Found in Text Mining only