| HGNC Family | WD repeat domain containing (WDR), EF-hand domain containing |
| Name | EF-hand calcium binding domain 8 |
| Description | Predicted to enable calcium ion binding activity. [provided by Alliance of Genome Resources, Mar 2025] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n EFCAB8 has emerged as a gene of interest in diverse studies even though its function is not the primary focus in each report. In one study investigating the genetic causes of acephalic spermatozoa syndrome, a large deletion encompassing complete SUN5 together with partial EFCAB8 was identified. While the phenotype was mainly attributed to SUN5 disruption, the involvement of EFCAB8 in this deletion hints that alterations in its integrity may co‐occur in the complex genetic rearrangements associated with abnormal sperm morphology."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In another investigation into oxaliplatin‐induced peripheral neuropathy, transcriptomic analysis revealed that EFCAB8 was among several genes that were transcriptionally turned off after chemotherapy, suggesting that a loss or suppression of EFCAB8 expression might be linked to the onset of neuropathic side effects."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": " Additionally, genome‐wide association analyses in Nellore cattle demonstrated that variation near the EFCAB8 locus was associated with carcass traits such as hot carcass weight, implying a potential role for EFCAB8 in processes that influence growth or metabolic characteristics in livestock."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " Together, these findings suggest that EFCAB8, likely encoding a protein with calcium‐binding domains, may play context‐dependent roles in reproductive biology, neural response to chemotherapeutic stress, and metabolic or developmental pathways that affect economically important traits.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Mingfei Xiang, Yu Wang, Ke Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Novel Mutation and Deletion in SUN5 Cause Male Infertility with Acephalic Spermatozoa Syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Reprod Sci (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s43032-021-00665-5"}], "href": "https://doi.org/10.1007/s43032-021-00665-5"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34159570"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34159570"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Manuel Morales, Julio Ávila, Rebeca González-Fernández, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Differential transcriptome profile of peripheral white cells to identify biomarkers involved in oxaliplatin induced neuropathy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Pers Med (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3390/jpm4020282"}], "href": "https://doi.org/10.3390/jpm4020282"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25563226"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25563226"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "R Espigolan, F Baldi, A A Boligon, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Associations between single nucleotide polymorphisms and carcass traits in Nellore cattle using high-density panels."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genet Mol Res (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.4238/2015.September.22.7"}], "href": "https://doi.org/10.4238/2015.September.22.7"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26400344"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26400344"}]}]}]}
|
| Proteins | EFCB8_HUMAN |
| NCBI Gene ID | 388795 |
| API | |
| Download Associations | |
| Predicted Functions |
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| Co-expressed Genes |
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| Expression in Tissues and Cell Lines |
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EFCAB8 has 1,316 functional associations with biological entities spanning 7 categories (molecular profile, functional term, phrase or reference, chemical, disease, phenotype or trait, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 37 datasets.
Click the + buttons to view associations for EFCAB8 from the datasets below.
If available, associations are ranked by standardized value
| Dataset | Summary | |
|---|---|---|
| Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of EFCAB8 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset. | |
| ChEA Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of EFCAB8 gene from the CHEA Transcription Factor Binding Site Profiles dataset. | |
| ChEA Transcription Factor Targets | transcription factors binding the promoter of EFCAB8 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset. | |
| ChEA Transcription Factor Targets 2022 | transcription factors binding the promoter of EFCAB8 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with EFCAB8 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. | |
| COSMIC Cell Line Gene Mutation Profiles | cell lines with EFCAB8 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset. | |
| CTD Gene-Chemical Interactions | chemicals interacting with EFCAB8 gene/protein from the curated CTD Gene-Chemical Interactions dataset. | |
| DISEASES Experimental Gene-Disease Association Evidence Scores 2025 | diseases associated with EFCAB8 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with EFCAB8 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| ENCODE Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at EFCAB8 gene from the ENCODE Histone Modification Site Profiles dataset. | |
| ENCODE Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of EFCAB8 gene from the ENCODE Transcription Factor Binding Site Profiles dataset. | |
| ENCODE Transcription Factor Targets | transcription factors binding the promoter of EFCAB8 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset. | |
| ESCAPE Omics Signatures of Genes and Proteins for Stem Cells | PubMedIDs of publications reporting gene signatures containing EFCAB8 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset. | |
| GEO Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of EFCAB8 gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
| GTEx eQTL 2025 | SNPs regulating expression of EFCAB8 gene from the GTEx eQTL 2025 dataset. | |
| GTEx Tissue Gene Expression Profiles | tissues with high or low expression of EFCAB8 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset. | |
| GTEx Tissue Gene Expression Profiles 2023 | tissues with high or low expression of EFCAB8 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset. | |
| GTEx Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of EFCAB8 gene relative to other tissue samples from the GTEx Tissue Sample Gene Expression Profiles dataset. | |
| GWAS Catalog SNP-Phenotype Associations 2025 | phenotypes associated with EFCAB8 gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. | |
| GWASdb SNP-Disease Associations | diseases associated with EFCAB8 gene in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. | |
| GWASdb SNP-Phenotype Associations | phenotypes associated with EFCAB8 gene in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. | |
| HPA Cell Line Gene Expression Profiles | cell lines with high or low expression of EFCAB8 gene relative to other cell lines from the HPA Cell Line Gene Expression Profiles dataset. | |
| HPA Tissue Gene Expression Profiles | tissues with high or low expression of EFCAB8 gene relative to other tissues from the HPA Tissue Gene Expression Profiles dataset. | |
| HPA Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of EFCAB8 gene relative to other tissue samples from the HPA Tissue Sample Gene Expression Profiles dataset. | |
| JASPAR Predicted Human Transcription Factor Targets 2025 | transcription factors regulating expression of EFCAB8 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset. | |
| JASPAR Predicted Mouse Transcription Factor Targets 2025 | transcription factors regulating expression of EFCAB8 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset. | |
| Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles | cell lines with high or low copy number of EFCAB8 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset. | |
| LOCATE Predicted Protein Localization Annotations | cellular components predicted to contain EFCAB8 protein from the LOCATE Predicted Protein Localization Annotations dataset. | |
| NURSA Protein Complexes | protein complexs containing EFCAB8 protein recovered by IP-MS from the NURSA Protein Complexes dataset. | |
| PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of EFCAB8 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
| PerturbAtlas Signatures of Differentially Expressed Genes for Mouse Gene Perturbations | gene perturbations changing expression of EFCAB8 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
| PFOCR Pathway Figure Associations 2024 | pathways involving EFCAB8 protein from the Wikipathways PFOCR 2024 dataset. | |
| Roadmap Epigenomics Cell and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of EFCAB8 gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue Gene Expression Profiles dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of EFCAB8 gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of EFCAB8 gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| Tabula Sapiens Gene-Cell Associations | cell types with high or low expression of EFCAB8 gene relative to other cell types from the Tabula Sapiens Gene-Cell Associations dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 | tissues co-occuring with EFCAB8 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |