Homo sapiens Gene: WHSC2
Summary
InnateDB Gene IDBG-7253.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol WHSC2
Gene Name Wolf-Hirschhorn syndrome candidate 2
Synonyms NELF-A; WHSC2
Species Homo sapiens
Ensembl Gene ENSG00000185049
Encoded Proteins
Wolf-Hirschhorn syndrome candidate 2
Wolf-Hirschhorn syndrome candidate 2
Wolf-Hirschhorn syndrome candidate 2
Wolf-Hirschhorn syndrome candidate 2
Wolf-Hirschhorn syndrome candidate 2
Wolf-Hirschhorn syndrome candidate 2
Wolf-Hirschhorn syndrome candidate 2
Wolf-Hirschhorn syndrome candidate 2
Wolf-Hirschhorn syndrome candidate 2
Wolf-Hirschhorn syndrome candidate 2
Wolf-Hirschhorn syndrome candidate 2
Wolf-Hirschhorn syndrome candidate 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 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. [provided by RefSeq, Jul 2008]
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. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 4:1982714-2041903
Strand Reverse strand
Band p16.3
Transcripts
ENST00000382882 ENSP00000372335
ENST00000333877 ENSP00000330311
ENST00000416258 ENSP00000387647
ENST00000411638 ENSP00000399165
ENST00000453740 ENSP00000405119
ENST00000431323 ENSP00000395761
ENST00000455762 ENSP00000410154
ENST00000421397 ENSP00000410963
ENST00000411649 ENSP00000396996
ENST00000443203 ENSP00000387776
ENST00000458616 ENSP00000406844
ENST00000467661
ENST00000463820
ENST00000488452
ENST00000484545
ENST00000542778 ENSP00000445757
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 16 experimentally validated interaction(s) in this database.
Experimentally validated
Total 16 [view]
Protein-Protein 16 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003682 chromatin binding
GO:0003746 translation elongation factor activity
GO:0005515 protein binding
Biological Process
GO:0006366 transcription from RNA polymerase II promoter
GO:0006368 transcription elongation from RNA polymerase II promoter
GO:0006414 translational elongation
GO:0007275 multicellular organismal development
GO:0010467 gene expression
GO:0016032 viral process
GO:0034244 negative regulation of transcription elongation from RNA polymerase II promoter
GO:0050434 positive regulation of viral transcription
Cellular Component
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0032021 NELF complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
TSLP pathway
REACTOME
Tat-mediated HIV elongation arrest and recovery pathway
Pausing and recovery of Tat-mediated HIV elongation pathway
RNA Polymerase II Pre-transcription Events pathway
Formation of RNA Pol II elongation complex pathway
Formation of the Early Elongation Complex pathway
RNA Polymerase II Transcription Elongation pathway
Formation of HIV elongation complex in the absence of HIV Tat pathway
Pausing and recovery of HIV elongation pathway
Formation of the HIV-1 Early Elongation Complex pathway
Formation of HIV-1 elongation complex containing HIV-1 Tat pathway
Tat-mediated elongation of the HIV-1 transcript pathway
Abortive elongation of HIV-1 transcript in the absence of Tat pathway
HIV elongation arrest and recovery pathway
Transcription of the HIV genome pathway
Late Phase of HIV Life Cycle pathway
HIV Transcription Elongation pathway
RNA Polymerase II Transcription pathway
HIV Life Cycle pathway
HIV Infection pathway
Gene Expression pathway
Disease pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.21771 Hs.708257
RefSeq NM_005663
HUGO
OMIM
CCDS CCDS3358
HPRD 12080
IMGT
EMBL
GenPept
RNA Seq Atlas