Gene Gene information from NCBI Gene database.
Entrez ID 9841
Gene name Zinc finger and BTB domain containing 24
Gene symbol ZBTB24
Synonyms (NCBI Gene)
BIF1ICF2PATZ2ZNF450
Chromosome 6
Chromosome location 6q21
Summary This gene encodes a protein similar to a protein in rodents which is induced by bone morphogenic protein 2 in vitro. [provided by RefSeq, Aug 2011]
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs387907104 G>A Pathogenic Stop gained, coding sequence variant, genic downstream transcript variant
rs387907105 A>C Pathogenic Missense variant, coding sequence variant, genic downstream transcript variant
rs867580676 G>A Pathogenic Stop gained, genic downstream transcript variant, coding sequence variant
rs1214978641 A>- Likely-pathogenic Frameshift variant, coding sequence variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
530
miRTarBase ID miRNA Experiments Reference
MIRT019507 hsa-miR-151a-3p Sequencing 20371350
MIRT026030 hsa-miR-196a-5p Sequencing 20371350
MIRT027732 hsa-miR-98-5p Microarray 19088304
MIRT032132 hsa-let-7d-5p Sequencing 20371350
MIRT540886 hsa-miR-4418 PAR-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
GO ID Ontology Definition Evidence Reference
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0002244 Process Hematopoietic progenitor cell differentiation IEA
GO:0003677 Function DNA binding IEA
GO:0003700 Function DNA-binding transcription factor activity IBA
GO:0005515 Function Protein binding IPI 16189514, 19060904, 25416956, 26871637, 28514442, 29892012, 31515488, 31839203, 32296183, 32814053, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614064 21143 ENSG00000112365
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O43167
Protein name Zinc finger and BTB domain-containing protein 24 (Zinc finger protein 450)
Protein function May be involved in BMP2-induced transcription.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00651 BTB 27 133 BTB/POZ domain Domain
PF00096 zf-C2H2 295 316 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 322 344 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 350 372 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 378 400 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 407 428 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 434 456 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 462 484 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 490 512 Zinc finger, C2H2 type Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed, with highest levels in naive B-cells. {ECO:0000269|PubMed:21596365}.
Sequence
MAETSPEPSGQLVVHSDAHSDTVLASFEDQRKKGFLCDITLIVENVHFRAHKALLAASSE
YFSMMFAEEGEIGQSIYMLEGMVADTFGILLEFIYTGYLHASEKSTEQILATAQFLKVYD
LVKAYTDFQNNHS
SPKPTTLNTAGAPVVVISNKKNDPPKRKRGRPKKVNTLQEEKSELAA
EEEIQLRVNNSVQNRQNFVVKGDSGVLNEQIAAKEKEESEPTCEPSREEEMPVEKDENYD
PKTEDGQASQSRYSKRRIWRSVKLKDYKLVGDQEDHGSAKRICGRRKRPGGPEARCKDCG
KVFKYNHFLAIHQRSH
TGERPFKCNECGKGFAQKHSLQVHTRMHTGERPYTCTVCSKALT
TKHSLLEHMSLH
SGQKSFTCDQCGKYFSQNRQLKSHYRVHTGHSLPECKDCHRKFMDVSQ
LKKHLRTH
TGEKPFTCEICGKSFTAKSSLQTHIRIHRGEKPYSCGICGKSFSDSSAKRRH
CILH
TGKKPFSCPECNLQFARLDNLKAHLKIHSKEKHASDASSISGSSNTEEVRNILQLQ
PYQLSTSGEQEIQLLVTDSVHNINFMPGPSQGISIVTAESSQNMTADQAANLTLLTQQPE
QLQNLILSAQQEQTEHIQSLNMIESQMGPSQTEPVHVITLSKETLEHLHAHQEQTEELHL
ATSTSDPAQHLQLTQEPGPPPPTHHVPQPTPLGQEQS
Sequence length 697
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
20
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
Immunodeficiency-centromeric instability-facial anomalies syndrome 2 Pathogenic; Likely pathogenic rs770082593, rs1213180923, rs780371205, rs2482871841, rs750997585, rs1175562986, rs2482882627, rs2482852662, rs1776290442, rs2482881376, rs2482882661, rs2482879619, rs2482870790, rs1378940472, rs2482870919
View all (24 more)
RCV001387547
RCV001887638
RCV002052143
RCV002471541
RCV003092402
View all (35 more)
★★★★★
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
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Likely 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
Anemia Anemia HPO_DG
★☆☆☆☆
Found in Text Mining only
Arachnoid Cysts Arachnoid cysts Pubtator 22786748 Associate
★☆☆☆☆
Found in Text Mining only
Brain Diseases Brain disease Pubtator 22786748 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 22785202
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 22785202 Inhibit
★☆☆☆☆
Found in Text Mining only
Bronchitis, Chronic Gastric Cancer HPO_DG
★☆☆☆☆
Found in Text Mining only
Byzanthine arch palate High palate HPO_DG
★☆☆☆☆
Found in Text Mining only
Cakut Congenital anomalies of the kidney and urinary tract Pubtator 27151922 Associate
★☆☆☆☆
Found in Text Mining only
Clumsiness - motor delay Motor delay HPO_DG
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 18833585
★☆☆☆☆
Found in Text Mining only