Entrez 7469 | Ensembl ENSG00000185049 | |
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Aliases NELFA, NELF-A, WHSC2, P/OKcl.15, negative elongation factor complex member A External IDs MGI: 1346098 HomoloGene: 68478 GeneCards: NELFA | ||
Function
This gene is expressed ubiquitously with higher levels in fetal than in adult tissues. It encodes a protein sharing 93% sequence identity with the mouse protein. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene is mapped to the 165 kb WHS critical region, and may play a role in the phenotype of the WHS or Pitt-Rogers-Danks syndrome. The encoded protein is found to be capable of reacting with HLA-A2-restricted and tumor-specific cytotoxic T lymphocytes, suggesting a target for use in specific immunotherapy for a large number of cancer patients. This protein has also been shown to be a member of the NELF (negative elongation factor) protein complex that participates in the regulation of RNA polymerase II transcription elongation. WHSC2 encodes the NELF-A subunit of the NELF complex.
Interactions
WHSC2 has been shown to interact with RDBP.