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]
Function:
May be involved in BMP2-induced transcription.
Subcellular Location:
Nucleus.
Tissue Specificity:
Widely expressed, with highest levels in naive B-cells.
DISEASE:
Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2) [MIM:614069]: A rare disorder characterized by a variable immunodeficiency resulting in recurrent infections, facial anomalies, and branching of chromosomes 1, 9, and 16. Other variable symptoms include growth retardation, failure to thrive, and psychomotor retardation. Laboratory studies show limited hypomethylation of DNA in a small fraction of the genome in some, but not all, patients. Note=The disease is caused by mutations affecting the gene represented in this entry.
Similarity:
Belongs to the krueppel C2H2-type zinc-finger protein family.
Contains 1 A.T hook DNA-binding domain.
Contains 1 BTB (POZ) domain.
Contains 8 C2H2-type zinc fingers.
SWISS:
O43167
Gene ID:
9841
Database links:
Entrez Gene: 9841 Human
Omim: 614064 Human
SwissProt: O43167 Human
Unigene: 409876 Human
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