DGCR6
Protein DGCR6
Also known as: DGCR6_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q14129
- Gene
- DGCR6
- Ensembl
- ENSG00000183628
- Chromosome
- 22
- Canonical length
- 220 aa
- Protein class
- Human disease related genes, Predicted intracellular proteins
OverviewNCBI Gene
DiGeorge syndrome, and more widely, the CATCH 22 syndrome, are associated with microdeletions in chromosomal region 22q11.2. The product of this gene shares homology with the Drosophila melanogaster gonadal protein, which participates in gonadal and germ cell development, and with the gamma-1 subunit of human laminin. This gene is a candidate for involvement in DiGeorge syndrome pathology and in schizophrenia. [provided by RefSeq, Nov 2008]
Canonical amino-acid sequenceUniProt
220 residues, UniProt reviewed canonical sequence.
>Q14129|DGCR6
1 MERYAGALEE VADGARQQER HYQLLSALQS LVKELPSSFQ QRLSYTTLSD LALALLDGTV
61 FEIVQGLLEI QHLTEKSLYN QRLRLQNEHR VLRQALRQKH QEAQQACRPH NLPVLQAAQQ
121 RELEAVEHRI REEQRAMDQK IVLELDRKVA DQQSTLEKAG VAGFYVTTNP QELMLQMNLL
181 ELIRKLQQRG CWAGKAALGL GGPWQLPAAQ CDQKGSPVPPLocalizationUniProt · AlphaFold · HPA
Whether an antibody against DGCR6 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)
- 0.4
- Highest tissue expression
- 197 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 197 nTPM
- heart muscle: 69 nTPM
- basal ganglia: 49 nTPM
- cerebral cortex: 48 nTPM
- amygdala: 46 nTPM
- midbrain: 41 nTPM
Single-cell type
- late spermatids: 9.5 nCPM
- early spermatids: 1.3 nCPM
- cardiomyocytes: 1.1 nCPM
- adipocytes: 0.8 nCPM
- astrocytes: 0.4 nCPM
- bergmann glia: 0.3 nCPM
Immune cell
- basophil: 11 nTPM
- myeloid DC: 3.8 nTPM
- total PBMC: 2.9 nTPM
- eosinophil: 2.8 nTPM
- naive CD8 T-cell: 2.7 nTPM
- intermediate monocyte: 2.6 nTPM
Brain region
- cerebellum: 16 nTPM
- choroid plexus: 16 nTPM
- pons: 14 nTPM
- white matter: 14 nTPM
- thalamus: 13 nTPM
- cerebral cortex: 13 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)
- 1.84
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.14
- DepMap mean gene effect
- -0.12
- 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
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads DGCR6 as an antibody target. Whether an autoantibody or antibody against DGCR6 could matter depends on whether native DGCR6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DGCR6 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 DGCR6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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