Property Summary

NCBI Gene PubMed Count 16
Grant Count 30
R01 Count 25
Funding $2,322,622.92
PubMed Score 8.70
PubTator Score 17.83

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
hepatocellular carcinoma -1.300 0.002
osteosarcoma -2.339 0.000
tuberculosis and treatment for 6 months 2.300 0.000
Breast cancer -1.400 0.000

Gene RIF (6)

PMID Text
25330735 ICF2, caused by biallelic ZBTB24 gene mutations, is acknowledged primarily as an isolated B-cell defect.
24175288 This suggests that Bif-1 protein expression may be a useful prognostic marker in early-stage CRC
23739126 We report three novel ZBTB24 mutations in Japanese and Cape Verdean type 2 ICF syndrome patients.
23486536 Clinical and genetic data of mutations in DNMT3B and ZBTB24 in patients with ICF syndrome, were compared.
21906047 A novel deletion in the ZBTB24 gene was responsible for causing immunodeficiency, centromeric instability and facial anomalies syndrome type 2 in this family.
21596365 These data indicate that ZBTB24 is involved in DNA methylation of juxtacentromeric DNA and in B cell development and/or B and T cell interactions.

AA Sequence

MAETSPEPSGQLVVHSDAHSDTVLASFEDQRKKGFLCDITLIVENVHFRAHKALLAASSEYFSMMFAEEG      1 - 70
EIGQSIYMLEGMVADTFGILLEFIYTGYLHASEKSTEQILATAQFLKVYDLVKAYTDFQNNHSSPKPTTL     71 - 140
NTAGAPVVVISNKKNDPPKRKRGRPKKVNTLQEEKSELAAEEEIQLRVNNSVQNRQNFVVKGDSGVLNEQ    141 - 210
IAAKEKEESEPTCEPSREEEMPVEKDENYDPKTEDGQASQSRYSKRRIWRSVKLKDYKLVGDQEDHGSAK    211 - 280
RICGRRKRPGGPEARCKDCGKVFKYNHFLAIHQRSHTGERPFKCNECGKGFAQKHSLQVHTRMHTGERPY    281 - 350
TCTVCSKALTTKHSLLEHMSLHSGQKSFTCDQCGKYFSQNRQLKSHYRVHTGHSLPECKDCHRKFMDVSQ    351 - 420
LKKHLRTHTGEKPFTCEICGKSFTAKSSLQTHIRIHRGEKPYSCGICGKSFSDSSAKRRHCILHTGKKPF    421 - 490
SCPECNLQFARLDNLKAHLKIHSKEKHASDASSISGSSNTEEVRNILQLQPYQLSTSGEQEIQLLVTDSV    491 - 560
HNINFMPGPSQGISIVTAESSQNMTADQAANLTLLTQQPEQLQNLILSAQQEQTEHIQSLNMIESQMGPS    561 - 630
QTEPVHVITLSKETLEHLHAHQEQTEELHLATSTSDPAQHLQLTQEPGPPPPTHHVPQPTPLGQEQS       631 - 697
//

Publication (16)

PMID Year Title
25416956 2014 A proteome-scale map of the human interactome network.
25330735 2014 Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2).
24175288 2013 Stage-stratified analysis of prognostic significance of Bax-interacting factor-1 expression in resected colorectal cancer.
23739126 2013 Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients.
23486536 2013 Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.
21906047 2012 A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.
21596365 2011 Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.
20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.
19060904 2009 An empirical framework for binary interactome mapping.
18391951 2008 Many sequence variants affecting diversity of adult human height.
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