NELFA (negative elongation factor complex member A)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 7469
Gene name Negative elongation factor complex member A
Gene symbol NELFA
Synonyms (NCBI Gene)
NELF-AP/OKcl.15WHSC2
Chromosome 4
Chromosome location 4p16.3
Summary 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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (17)
GO ID Ontology Definition Evidence Reference
GO:0003682 Function Chromatin binding IEA
GO:0005515 Function Protein binding IPI 12612062, 20211142, 24981860, 25416956, 26496610, 28298427, 28514442, 32296183, 33961781
GO:0005634 Component Nucleus IDA 12612062
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606026 12768 ENSG00000185049
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (5)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NELFA-related disorder Likely benign; Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (50)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Agenesis of corpus callosum Agenesis Of Corpus Callosum HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Aplasia cutis congenita of scalp Aplasia Cutis Congenita HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Arachnodactyly Arachnodactyly HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Atrial Septal Defects Atrial Septal Defect HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Blepharoptosis Ptosis HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma GWASCAT_DG 29059683
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Chronic otitis media Otitis media HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Congenital anomaly of the kidney Multicystic renal dysplasia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Congenital clubfoot Congenital Clubfoot HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Congenital coloboma of iris Congenital Coloboma Of Iris HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only