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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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GCFC2
GC-rich sequence DNA-binding factor 2
Chromosome 2 · 2p12
NCBI Gene: 6936Ensembl: ENSG00000005436.15HGNC: HGNC:1317UniProt: A4UHR0
50PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleolusprotein bindingspliceosomal complex assemblyU2-type post-mRNA release spliceosomal complexocular hypotensionocular hypertensionrestless legs syndromepreeclampsia
✦AI Summary

GCFC2 (GC-rich sequence DNA-binding factor 2) is a nuclear protein involved in pre-mRNA splicing through regulation of spliceosome C complex formation 1. The gene localizes to chromosome 2.1-11.2 2 and plays a role in late-stage splicing events and excised intron turnover 1. GCFC2 has been implicated in neurodevelopmental disorders affecting language and literacy. Genetic studies identified GCFC2 variants as contributing to language traits in children with autism spectrum disorders 3, and it was included among candidate genes examined in specific learning disorder families, though causative effects were not definitively established 4. Additionally, GCFC2 variants were associated with hippocampal volume in Alzheimer's disease genome-wide association studies 5, suggesting broader neurological relevance. The protein's association with splicing machinery links it to proper spliceosomal complex assembly, which is critical for normal gene expression. While GCFC2's core biochemical function centers on splicing regulation, its genetic associations with neurodevelopmental and neurodegenerative conditions suggest important roles in maintaining normal brain structure and language-cognitive function, though the mechanistic connections require further investigation.

Sources cited
1
GCFC2 regulates spliceosome C complex formation and plays a role in late-stage splicing events and excised intron turnover
PMID: 24304693
2
GCF gene localizes to chromosome 2p11.1-11.2 region
PMID: 1370479
3
GCFC2 shows suggestive evidence of association with language skills in children with autism spectrum disorders
PMID: 25448322
4
GCFC2 is a candidate gene in specific learning disorder genetic analysis, with detected SNP variants in multiplex families
PMID: 37629793
5
GCFC2 gene region shows genome-wide significant association with hippocampal volume in Alzheimer's disease
PMID: 22745009
Disease Associationsⓘ20
ocular hypotensionOpen Targets
0.35Weak
ocular hypertensionOpen Targets
0.34Weak
restless legs syndromeOpen Targets
0.32Weak
preeclampsiaOpen Targets
0.29Weak
type 1 diabetes mellitusOpen Targets
0.25Weak
chronic obstructive pulmonary diseaseOpen Targets
0.20Weak
exostosisOpen Targets
0.19Weak
polyarteritis nodosaOpen Targets
0.19Weak
male infertilityOpen Targets
0.17Weak
sinusitisOpen Targets
0.17Weak
facial painOpen Targets
0.17Weak
fungal infectious diseaseOpen Targets
0.17Weak
Abruptio PlacentaeOpen Targets
0.17Weak
schizophreniaOpen Targets
0.17Weak
ankylosing spondylitisOpen Targets
0.16Weak
psoriatic arthritisOpen Targets
0.16Weak
asthmaOpen Targets
0.02Suggestive
response to diisocyanateOpen Targets
0.02Suggestive
male reproductive organ cancerOpen Targets
0.02Suggestive
mucous membrane pemphigoidOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CDC40Protein interaction100%DDX23Protein interaction100%PRPF8Protein interaction100%PPIL1Protein interaction100%SNRNP200Protein interaction100%CWF19L2Protein interaction99%
Tissue Expression6 tissues
Liver
100%
Heart
84%
Ovary
84%
Brain
68%
Bone Marrow
48%
Lung
44%
Gene Interaction Network
Click a node to explore
GCFC2CDC40DDX23PRPF8PPIL1SNRNP200CWF19L2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P16383
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.95LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.62 [0.94–1.95]
RankingsWhere GCFC2 stands among ~20K protein-coding genes
  • #8,812of 20,598
    Most Researched50
  • #17,633of 17,882
    Most Constrained (LOEUF)1.95
Genes detectedGCFC2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Language impairment and dyslexia genes influence language skills in children with autism spectrum disorders.
PMID: 25448322
Autism Res · 2015
1.00
2
Specific Learning Disorders: Variation Analysis of 15 Candidate Genes in 9 Multiplex Families.
PMID: 37629793
Medicina (Kaunas) · 2023
0.90
3
Polymorphisms in DCDC2 and S100B associate with developmental dyslexia.
PMID: 25877001
J Hum Genet · 2015
0.80
4
Comprehensive transcriptome-wide analysis of spliceopathy correction of myotonic dystrophy using CRISPR-Cas9 in iPSCs-derived cardiomyocytes.
PMID: 34371182
Mol Ther · 2022
0.70
5
Expression and chromosomal localization of the gene for the human transcriptional repressor GCF.
PMID: 1370479
J Biol Chem · 1992
0.60