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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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NELFCD
negative elongation factor complex member C/D
Chromosome 20 · 20q13.32
NCBI Gene: 51497Ensembl: ENSG00000101158.15HGNC: HGNC:15934UniProt: H0UI80
85PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA polymerase inhibitor activitymembranenuclear bodyNELF complexHIV infectionneurodegenerative diseasehypertensionesophageal cancer
✦AI Summary

NELFCD (negative elongation factor complex member C/D) is a transcriptional regulatory protein functioning as a component of the NELF complex involved in RNA polymerase II pausing and negative regulation of transcription elongation 1. Beyond its canonical transcriptional role, NELFCD has emerged as a significant player in multiple disease contexts. In cancer biology, NELFCD promotes colon cancer progression by recruiting PRMT5 to the DUSP2 promoter, thereby repressing DUSP2 expression and activating the p38 MAPK signaling pathway 2. In colorectal cancer metastasis, eIF3i directly promotes NELFCD translation independent of transcriptional regulation, driving epithelial-mesenchymal transition and invadopodia formation 3. NELFCD knockdown inhibits CRC metastatic capacity, establishing it as a druggable target. Genetically, NELFCD variants are associated with disease progression: genetic studies identified NELFCD loci linked to jaundice-stage progression in primary biliary cholangitis, with eQTL analyses demonstrating that disease-associated SNPs influence NELFCD mRNA expression 4. Additionally, NELFCD emerged as an immune cell-specific genetic driver of migraine susceptibility 1, with drug repurposing identifying hydroxychloroquine sulfate as a potential therapeutic agent targeting NELFCD-associated migraine. Clinically, NELFCD represents a promising therapeutic target across multiple malignancies and immune-mediated diseases, with potential for precision medicine approaches.

Sources cited
1
NELFCD identified as immune cell-specific eGene causally associated with migraine; hydroxychloroquine sulfate identified as potential therapeutic agent
PMID: 41029193
2
NELFCD loci associated with jaundice-stage progression in primary biliary cholangitis; eQTL analysis shows disease-associated SNPs influence NELFCD mRNA expression
PMID: 29795304
3
NELFCD upregulated in colon cancer; promotes cancer cell growth by recruiting PRMT5 to inhibit DUSP2, activating p38 MAPK signaling pathway
PMID: 40302325
4
eIF3i directly promotes NELFCD translation independent of transcription; NELFCD drives colorectal cancer metastasis via epithelial-mesenchymal transition and invadopodia formation
PMID: 41315067
5
NELFCD identified as key candidate marker in early life immune network development across multiple gestational and postnatal periods
PMID: 32362896
6
NELFCD identified as hub gene candidate associated with KRAS mutation status in colorectal cancer through network analysis
PMID: 32552000
Disease Associationsⓘ20
HIV infectionOpen Targets
0.59Moderate
neurodegenerative diseaseOpen Targets
0.55Moderate
hypertensionOpen Targets
0.29Weak
esophageal cancerOpen Targets
0.16Weak
colorectal carcinomaOpen Targets
0.08Suggestive
Blackfan-Diamond anemiaOpen Targets
0.06Suggestive
Hemoglobin E - beta-thalassemiaOpen Targets
0.05Suggestive
hemoglobin E-beta-thalassemia syndromeOpen Targets
0.05Suggestive
ovarian dysfunctionOpen Targets
0.05Suggestive
dehydrated hereditary stomatocytosisOpen Targets
0.05Suggestive
hypertriglyceridemia 2Open Targets
0.05Suggestive
gluthathione peroxidase deficiencyOpen Targets
0.05Suggestive
Adult-onset autosomal recessive sideroblastic anemiaOpen Targets
0.05Suggestive
alpha thalassemia-intellectual disability syndrome type 1Open Targets
0.05Suggestive
Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16Open Targets
0.05Suggestive
hemolytic anemia due to erythrocyte adenosine deaminase overproductionOpen Targets
0.04Suggestive
hemoglobin D diseaseOpen Targets
0.04Suggestive
microcytic anemia with liver iron overloadOpen Targets
0.04Suggestive
delta-beta-thalassemiaOpen Targets
0.04Suggestive
IRIDA syndromeOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NCBP1Protein interaction100%POLR2BProtein interaction100%POLR2LProtein interaction100%POLR2KProtein interaction100%POLR2EProtein interaction100%POLR2DProtein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
80%
Liver
69%
Brain
59%
Lung
49%
Heart
42%
Gene Interaction Network
Click a node to explore
NELFCDNCBP1POLR2BPOLR2LPOLR2KPOLR2EPOLR2D
PROTEIN STRUCTURE
Preparing viewer…
PDB8UHG · 2.70 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.86LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.66 [0.52–0.86]
RankingsWhere NELFCD stands among ~20K protein-coding genes
  • #5,621of 20,598
    Most Researched85
  • #7,554of 17,882
    Most Constrained (LOEUF)0.86
Genes detectedNELFCD
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Dissecting immune cell-specific genetics in migraine: a multi-omics framework for target discovery and therapeutic prioritization.
PMID: 41029193
J Headache Pain · 2025
1.00
2
NELFCD and CTSZ loci are associated with jaundice-stage progression in primary biliary cholangitis in the Japanese population.
PMID: 29795304
Sci Rep · 2018
0.90
3
NELFCD Promotes Colon Cancer Progression by Regulating the DUSP2-p38 Axis.
PMID: 40302325
Front Biosci (Landmark Ed) · 2025
0.80
4
eIF3i facilitates NELFCD translation to promote metastasis via regulating EMT and invadopodia.
PMID: 41315067
Br J Cancer · 2026
0.70
5
DDX27 regulates oral squamous cell carcinoma development through targeting CSE1L.
PMID: 38301874
Life Sci · 2024
0.60