ZMYM2
Function
Involved in the negative regulation of transcription.
Involvement in disease
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
NECRC
An autosomal dominant disorder characterized by dysmorphic craniofacial features, mild developmental delay, mildly impaired intellectual development or learning difficulties, speech delay, and behavioral abnormalities. About half of patients have congenital anomalies of the kidney and urinary tract and/or congenital cardiac defects, including septal defects.
None
The disease is caused by variants affecting the gene represented in this entry.
A chromosomal aberration involving ZMYM2 may be a cause of stem cell leukemia lymphoma syndrome (SCLL). Translocation t(8;13)(p11;q12) with FGFR1. SCLL usually presents as lymphoblastic lymphoma in association with a myeloproliferative disorder, often accompanied by pronounced peripheral eosinophilia and/or prominent eosinophilic infiltrates in the affected bone marrow.
Cellular localization
- Nucleus
Alternative names
FIM, RAMP, ZNF198, ZMYM2, Zinc finger MYM-type protein 2, Fused in myeloproliferative disorders protein, Rearranged in atypical myeloproliferative disorder protein, Zinc finger protein 198