Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9841
Gene name Gene Name - the full gene name approved by the HGNC.
Zinc finger and BTB domain containing 24
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ZBTB24
Synonyms (NCBI Gene) Gene synonyms aliases
BIF1, ICF2, PATZ2, ZNF450
Disease Acronyms (UniProt) Disease acronyms from UniProt database
ICF2
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q21
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0002244 Process Hematopoietic progenitor cell differentiation IEA
GO:0003700 Function DNA-binding transcription factor activity IBA 21873635
GO:0005515 Function Protein binding IPI 16189514, 19060904, 25416956, 26871637, 28514442, 29892012, 31515488, 31839203, 32296183
GO:0005634 Component Nucleus IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
614064 21143 ENSG00000112365
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anemia Anemia rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Immunodeficiency-centromeric instability-facial anomalies syndrome ICF syndrome, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 rs121908939, rs121908940, rs121908941, rs121908942, rs121908943, rs547940069, rs121908944, rs121908945, rs121908946, rs121908947, rs387907104, rs1582683374, rs387907105, rs387907106, rs1562305058
View all (13 more)
23486536, 21906047, 21596365
Macrocephaly Macrocephaly rs786204854, rs764333096, rs1557739557
Associations from Text Mining
Disease Name Relationship Type References
Arachnoid Cysts Associate 22786748
Brain Diseases Associate 22786748
Breast Neoplasms Inhibit 22785202
Cafe au Lait Spots Associate 22786748
Cakut Associate 27151922
Cysts Associate 22786748
Epstein Barr Virus Infections Associate 33995370
Facial paresis hereditary congenital Associate 39958354
Hematologic Diseases Associate 36544766
Immunodeficiency syndrome variable Associate 21596365, 22786748, 30085123, 30307408, 33082427, 39958354