EFCAB6 EF-hand calcium binding domain 6
Gene ID: 64800, updated on 10-Oct-2024Gene type: protein coding
Also known as: DJBP; HSCBCIP1; dJ185D5.1
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- Go to complete Gene record for EFCAB6
- Go to Variation Viewer for EFCAB6 variants
Summary
This gene encodes a protein which directly binds the oncogene DJ-1 and androgen receptor to form a ternary complex in cells. This binding protein recruits histone-deacetylase complexes in order to repress transcription activity of androgen receptor. This protein may also play a role in spermatogenesis and fertilization. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. GeneReviews: Not available |
Genomic context
- Location:
- 22q13.2-q13.31
- Sequence:
- Chromosome: 22; NC_000022.11 (43528778..43812305, complement)
- Total number of exons:
- 42
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for EFCAB6 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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