WHSC2

Wolf-Hirschhorn syndrome candidate 2
Identifiers
Symbols WHSC2; FLJ10442; FLJ25112; NELF-A; NELFA
External IDs OMIM606026 MGI1346098 HomoloGene68478 GeneCards: WHSC2 Gene
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez 7469 24116
Ensembl ENSG00000185049 ENSMUSG00000029111
UniProt Q9H3P2 Q3UK41
RefSeq (mRNA) NM_005663 NM_011914.2
RefSeq (protein) NP_005654 NP_036044.1
Location (UCSC) Chr 4:
1.98 – 2.04 Mb
Chr 5:
34.24 – 34.28 Mb
PubMed search [1] [2]

Negative elongation factor A is a protein that in humans is encoded by the WHSC2 gene.[1][2]

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.[2] WHSC2 encodes the NELF-A subunit of the NELF complex.[3]

Interactions

WHSC2 has been shown to interact with RDBP.[4]

References

  1. ^ Wright TJ, Costa JL, Naranjo C, Francis-West P, Altherr MR (Sep 1999). "Comparative analysis of a novel gene from the Wolf-Hirschhorn/Pitt-Rogers-Danks syndrome critical region". Genomics 59 (2): 203–12. doi:10.1006/geno.1999.5871. PMID 10409432. 
  2. ^ a b "Entrez Gene: WHSC2 Wolf-Hirschhorn syndrome candidate 2". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7469. 
  3. ^ Narita, Takashi; Yamaguchi, Yuki ; Yano, Keiichi; Sugimoto, Seiji; Chanarat, Sittinan; Wada, Tadashi; Kim, Dong-ki; Hasegawa, Jun; Omori, Masashi; Inukai, Naoto; Endoh, Masaki; Yamada, Tomoko; Handa, Hiroshi (2003). "Human Transcription Elongation Factor NELF: Identification of Novel Subunits and Reconstitution of the Functionally Active Complex". Molecular and Cellular Biology 23 (6): 1863–1873. doi:10.1128/MCB.23.6.1863-1873.2003. PMC 149481. PMID 12612062. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=149481. 
  4. ^ Narita, Takashi; Yamaguchi Yuki, Yano Keiichi, Sugimoto Seiji, Chanarat Sittinan, Wada Tadashi, Kim Dong-ki, Hasegawa Jun, Omori Masashi, Inukai Naoto, Endoh Masaki, Yamada Tomoko, Handa Hiroshi (Mar. 2003). "Human Transcription Elongation Factor NELF: Identification of Novel Subunits and Reconstitution of the Functionally Active Complex". Mol. Cell. Biol. (United States) 23 (6): 1863–73. doi:10.1128/MCB.23.6.1863-1873.2003. ISSN 0270-7306. PMC 149481. PMID 12612062. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=149481. 

Further reading