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ZBTB24 (zinc finger and BTB domain containing 24)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9841
Gene nameGene Name - the full gene name approved by the HGNC.
Zinc finger and BTB domain containing 24
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
ZBTB24
SynonymsGene synonyms aliases
BIF1, ICF2, PATZ2, ZNF450
ChromosomeChromosome number
6
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q21
SummarySummary 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]
SNPsSNP 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
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
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
Causal
Disease name Disease term dbSNP ID References
Anemia Anemia rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
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, rs879253733, rs140316223, rs879253734, rs879253735, rs879253736, rs879253737, rs879253738, rs876657409, rs370384522, rs1131691654, rs370370334, rs867580676, rs1368779496 23486536, 21906047, 21596365
Macrocephaly Macrocephaly rs786204854, rs764333096, rs1557739557
Unknown
Disease name Disease term dbSNP ID References
Communicating hydrocephalus Communicating Hydrocephalus
Congenital epicanthus Congenital Epicanthus
Congenital exomphalos Congenital exomphalos
Dwarfism Dwarfism

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