DEF8
Differentially expressed in FDCP 8 homolog
Also known as: DEFI8_HUMAN, FLJ20186
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q6ZN54
- Gene
- DEF8
- Ensembl
- ENSG00000140995
- Chromosome
- 16
- Canonical length
- 512 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Cytosol
OverviewNCBI Gene
Predicted to enable zinc ion binding activity. Predicted to be involved in lysosome localization; positive regulation of bone resorption; and positive regulation of ruffle assembly. [provided by Alliance of Genome Resources, Jul 2025]
Canonical amino-acid sequenceUniProt
512 residues, UniProt reviewed canonical sequence.
>Q6ZN54|DEF8
1 MAILSLRAPG PWQAMQVWAD RTLLTPHTGV TSQVLGVAAA VMTPLPGGHA AGRTREARWD
61 AMEYDEKLAR FRQAHLNPFN KQSGPRQHEQ GPGEEVPDVT PEEALPELPP GEPEFRCPER
121 VMDLGLSEDH FSRPVGLFLA SDVQQLRQAI EECKQVILEL PEQSEKQKDA VVRLIHLRLK
181 LQELKDPNED EPNIRVLLEH RFYKEKSKSV KQTCDKCNTI IWGLIQTWYT CTGCYYRCHS
241 KCLNLISKPC VSSKVSHQAE YELNICPETG LDSQDYRCAE CRAPISLRGV PSEARQCDYT
301 GQYYCSHCHW NDLAVIPARV VHNWDFEPRK VSRCSMRYLA LMVSRPVLRL REINPLLFSY
361 VEELVEIRKL RQDILLMKPY FITCREAMEA RLLLQLQDRQ HFVENDEMYS VQDLLDVHAG
421 RLGCSLTEIH TLFAKHIKLD CERCQAKGFV CELCREGDVL FPFDSHTSVC ADCSAVFHRD
481 CYYDNSTTCP KCARLSLRKQ SLFQEPGPDV EALocalizationUniProt · AlphaFold · HPA
Whether an antibody against DEF8 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
- Unknown
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.41
- Highest tissue expression
- 100 nTPM
Expression across tissuesHPA
Tissue
- cerebellum: 100 nTPM
- cerebral cortex: 72 nTPM
- lymph node: 68 nTPM
- midbrain: 63 nTPM
- amygdala: 59 nTPM
- spinal cord: 58 nTPM
Single-cell type
- esophageal apical cells: 200 nCPM
- esophageal suprabasal cells: 96 nCPM
- hofbauer cells: 82 nCPM
- neutrophils: 66 nCPM
- hepatic stellate cells: 65 nCPM
- extravillous trophoblasts: 59 nCPM
Immune cell
- eosinophil: 81 nTPM
- plasmacytoid DC: 69 nTPM
- naive B-cell: 61 nTPM
- neutrophil: 53 nTPM
- memory B-cell: 50 nTPM
- classical monocyte: 39 nTPM
Brain region
- medulla oblongata: 125 nTPM
- cerebral cortex: 116 nTPM
- pons: 114 nTPM
- midbrain: 108 nTPM
- thalamus: 105 nTPM
- white matter: 101 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)
- 0.57
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.02
- DepMap mean gene effect
- -0.15
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads DEF8 as an antibody target. Whether an autoantibody or antibody against DEF8 could matter depends on whether native DEF8 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DEF8 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 DEF8 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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