Seroatlas · Human Serome Atlas

DEFA6

Defensin-6

Also known as: DEF6, DEF6_HUMAN, HD-6

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q01524
Gene: DEFA6
Ensembl: ENSG00000164822
Chromosome: 8
Canonical length: 100 aa
Protein class: Plasma proteins, Predicted secreted proteins
Secretome location: Secreted to digestive system
Quaternary structure: Homodimer

OverviewNCBI Gene

Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several alpha defensin genes appear to be clustered on chromosome 8. The protein encoded by this gene, defensin, alpha 6, is highly expressed in the secretory granules of Paneth cells of the small intestine, and likely plays a role in host defense of human bowel. [provided by RefSeq, Oct 2014]

Canonical amino-acid sequenceUniProt

100 residues, UniProt reviewed canonical sequence.

>Q01524|DEFA6
     1  MRTLTILTAV LLVALQAKAE PLQAEDDPLQ AKAYEADAQE QRGANDQDFA VSFAEDASSS
    61  LRALGSTRAF TCHCRRSCYS TEYSYGTCTV MGINHRFCCL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DEFA6 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: Secreted
Secreted: Yes
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.6
Highest tissue expression: 4,531 nTPM

Expression across tissuesHPA

Tissue

small intestine: 4,531 nTPM
duodenum: 2,685 nTPM
colon: 21 nTPM
appendix: 5.2 nTPM
lymph node: 3.2 nTPM
rectum: 3.1 nTPM

Single-cell type

paneth cells: 45,829 nCPM
goblet cells: 41 nCPM
enteric stem cells: 28 nCPM
neuroendocrine cells: 2.9 nCPM
enterocytes: 1.9 nCPM
foveolar cells: 1.9 nCPM

Immune cell

memory B-cell: 0.1 nTPM
naive B-cell: 0.1 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM

Brain region

pons: 0.2 nTPM
amygdala: 0 nTPM
basal ganglia: 0 nTPM
cerebellum: 0 nTPM
cerebral cortex: 0 nTPM
choroid plexus: 0 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): 1.97
gnomAD pLI: 0
gnomAD missense Z: -1.86
DepMap mean gene effect: 0.18
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads DEFA6 as an antibody target. Whether an autoantibody or antibody against DEFA6 could matter depends on whether native DEFA6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DEFA6 is annotated as secreted, so native DEFA6 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.

Annotation status

The present source text does not explicitly label DEFA6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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