EFCAB2
Dynein regulatory complex protein 8
Also known as: CFAP200, DRC8, DRC8_HUMAN, MGC12458
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q5VUJ9
- Gene
- EFCAB2
- Ensembl
- ENSG00000203666
- Chromosome
- 1
- Canonical length
- 269 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Plasma membrane,Mitochondria,Cytosol,Mid piece
OverviewNCBI Gene
The gene encodes a protein that contains two EF-hand calcium-binding domains although its function has yet to be determined. Alternatively spliced transcripts have been observed. [provided by RefSeq, Mar 2014]
Canonical amino-acid sequenceUniProt
269 residues, UniProt reviewed canonical sequence.
>Q5VUJ9|EFCAB2
1 MLGPGQVRLR PRVWRDKAGG RVADGASGLP PARGSWRETG TGRALGASSP PRPAQGSSSP
61 GIQSGPSSRP GSPRGAEQAG TPRPRLSLGI SQATGSAARW RTRRTGKGLG YNSDEIRPRT
121 LLIEHLMEGG RRDHHTMTVL WGTQEIIVAE FHKKIKEAFE VFDHESNNTV DVREIGTIIR
181 SLGCCPTEGE LHDLIAEVEE EEPTGYIRFE KFLPVMTEIL LERKYRPIPE DVLLRAFEVL
241 DSAKRGFLTK DELIKYMTEE DGVSLRRPGLocalizationUniProt · AlphaFold · HPA
Whether an antibody against EFCAB2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.5
- Highest tissue expression
- 22 nTPM
Expression across tissuesHPA
Tissue
- fallopian tube: 22 nTPM
- thyroid gland: 21 nTPM
- choroid plexus: 20 nTPM
- testis: 19 nTPM
- endometrium: 18 nTPM
- skeletal muscle: 18 nTPM
Single-cell type
- ependymal cells: 865 nCPM
- respiratory ciliated cells: 701 nCPM
- choroid plexus epithelial cells: 565 nCPM
- myonuclei: 559 nCPM
- fallopian tube ciliated cells: 472 nCPM
- epididymal efferent duct ciliated cells: 361 nCPM
Immune cell
- plasmacytoid DC: 5.4 nTPM
- neutrophil: 3.3 nTPM
- myeloid DC: 3.1 nTPM
- naive B-cell: 2.8 nTPM
- eosinophil: 1.8 nTPM
- memory B-cell: 1.7 nTPM
Brain region
- choroid plexus: 41 nTPM
- medulla oblongata: 28 nTPM
- midbrain: 26 nTPM
- white matter: 25 nTPM
- spinal cord: 22 nTPM
- cerebellum: 20 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.54
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.25
- DepMap mean gene effect
- -0.13
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads EFCAB2 as an antibody target. Whether an autoantibody or antibody against EFCAB2 could matter depends on whether native EFCAB2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
EFCAB2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label EFCAB2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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