WHSC2

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NELFA
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases NELFA, NELF-A, WHSC2, P/OKcl.15, negative elongation factor complex member A
External IDs MGI: 1346098 HomoloGene: 68478 GeneCards: NELFA
Gene location (Human)
Chromosome 4 (human)
Chr. Chromosome 4 (human)[1]
Chromosome 4 (human)
Genomic location for NELFA
Genomic location for NELFA
Band 4p16.3 Start 1,982,714 bp[1]
End 2,041,903 bp[1]
RNA expression pattern
PBB GE WHSC2 203112 s at fs.png

PBB GE WHSC2 34225 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_005663

NM_011914

RefSeq (protein)

NP_005654

NP_036044

Location (UCSC) Chr 4: 1.98 – 2.04 Mb Chr 4: 33.9 – 33.94 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Negative elongation factor A is a protein that in humans is encoded by the WHSC2 gene.[5][6]

Function[edit]

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.[6] WHSC2 encodes the NELF-A subunit of the NELF complex.[7]

Interactions[edit]

WHSC2 has been shown to interact with RDBP.[7]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000185049 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000029111 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ Wright TJ, Costa JL, Naranjo C, Francis-West P, Altherr MR (Jul 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. 
  6. ^ a b "Entrez Gene: WHSC2 Wolf-Hirschhorn syndrome candidate 2". 
  7. ^ a b Narita T, Yamaguchi Y, Yano K, Sugimoto S, Chanarat S, Wada T, Kim DK, Hasegawa J, Omori M, Inukai N, Endoh M, Yamada T, Handa H (Mar 2003). "Human transcription elongation factor NELF: identification of novel subunits and reconstitution of the functionally active complex". Molecular and Cellular Biology. 23 (6): 1863–73. doi:10.1128/MCB.23.6.1863-1873.2003. PMC 149481Freely accessible. PMID 12612062. 

Further reading[edit]