NELFA (negative elongation factor complex member A)

Gene
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7469
Gene name Gene Name - the full gene name approved by the HGNC.
Negative elongation factor complex member A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NELFA
Synonyms (NCBI Gene) Gene synonyms aliases
NELF-A, P/OKcl.15, WHSC2
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4p16.3
Summary Summary of gene provided in NCBI Entrez Gene.
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 deleti
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(12)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 12612062, 24981860, 25416956, 26496610, 28298427, 28514442, 32296183
GO:0005654 Component Nucleoplasm IDA
GO:0005654 Component Nucleoplasm TAS
GO:0005829 Component Cytosol IDA
GO:0006366 Process Transcription by RNA polymerase II TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606026 12768 ENSG00000185049
Protein
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9H3P2
Protein name Negative elongation factor A (NELF-A) (Wolf-Hirschhorn syndrome candidate 2 protein)
Protein function Essential component of the NELF complex, a complex that negatively regulates the elongation of transcription by RNA polymerase II. The NELF complex, which acts via an association with the DSIF complex and causes transcriptional pausing, is count
PDB 5L3X , 6GML , 7PKS , 7YCX , 8RBX , 8UHA , 8UHD , 8UHG , 8UI0 , 8UIS , 8W8E , 9J0N , 9J0O , 9J0P
Family and domains
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Expressed in heart, brain, placenta, liver, skeletal muscle, kidney and pancreas. Expressed at lower level in adult lung. Expressed in fetal brain, lung, liver and kidney. {ECO:0000269|PubMed:10409432, ECO:0000269|PubMed:11
Sequence 
MASMRESDTGLWLHNKLGATDELWAPPSIASLLTAAVIDNIRLCFHGLSSAVKLKLLLGT
LHLPRRTVDEMKGALMEIIQLASLDSDPWVLMVADILKSFPDTGSLNLELEEQNPNVQDI
LGELREKVGECEASAMLPLECQYLNKNALTTLAGPLTPPVKHFQLKRKPKSATLRAELLQ
KSTETAQQLKRSAGVPFHAKGRGLLRKMDTTTPLKGIPKQAPFRSPTAPSVFSPTGNRTP
IPPSRTLLRKERGVKLLDISELDMVGAGREAKRRRKTLDAEVVEKPAKEETVVENATPDY
AAGLVSTQKLGSLNNEPALPSTSYLPSTPSVVPASSYIPSSETPPAPSSREASRPPEEPS
APSPTLPAQFKQRAPMYNSGLSPATPTPAAPTSPLTPTTPPAVAPTTQTPPVAMVAPQTQ
APAQQQPKKNLSLTREQMFAAQEMFKTANKVTRPEKALILGFMAGSRENPCQEQGDVIQI
KLSEHTEDLPKADGQGSTTMLVDTVFEMNYATGQWTRFKKYKPMTNVS
Sequence length 528
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Viral life cycle - HIV-1   Formation of RNA Pol II elongation complex
Formation of the Early Elongation Complex
Formation of HIV-1 elongation complex containing HIV-1 Tat
RNA Polymerase II Pre-transcription Events
TP53 Regulates Transcription of DNA Repair Genes
RNA Polymerase II Transcription Elongation
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (17)
Causal
Disease term Disease name dbSNP ID References
Agenesis of corpus callosum Agenesis of corpus callosum rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Aplasia cutis congenita Aplasia cutis congenita of scalp rs587777706
Atrial septal defect Atrial Septal Defects rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074
View all (25 more)
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)		 29059683
Show/Hide Unknown Diseases (3)
Unknown
Disease term Disease name Evidence References Source
Otitis media Chronic otitis media ClinVar
Ptosis Blepharoptosis, Ptosis ClinVar
Breast cancer Breast cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Show/Hide Text Mining Associations (9)
Associations from Text Mining
Disease Name Relationship Type References
Esophageal Neoplasms Associate 31845510
Esophageal Squamous Cell Carcinoma Stimulate 31845510
Genetic Diseases Inborn Associate 32416892
Neoplasms Associate 36463234
Orofacial Cleft 1 Associate 26561393
Otofaciocervical Syndrome Associate 26561393
Periodontitis Associate 35397550
Wilms Tumor Associate 35578692
Wolf Hirschhorn Syndrome Associate 11940650