DGCR2
Integral membrane protein DGCR2/IDD
Also known as: DGS-C, IDD, IDD_HUMAN, KIAA0163, LAN, SEZ-12
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P98153
- Gene
- DGCR2
- Ensembl
- ENSG00000070413
- Chromosome
- 22
- Canonical length
- 550 aa
- Protein class
- Human disease related genes, Predicted membrane proteins
OverviewNCBI Gene
Deletions of the 22q11.2 have been associated with a wide range of developmental defects (notably DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome and isolated conotruncal cardiac defects) classified under the acronym CATCH 22. The DGCR2 gene encodes a novel putative adhesion receptor protein, which could play a role in neural crest cells migration, a process which has been proposed to be altered in DiGeorge syndrome. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
Canonical amino-acid sequenceUniProt
550 residues, UniProt reviewed canonical sequence.
>P98153|DGCR2
1 MVPKADSGAF LLLFLLVLTV TEPLRPELRC NPGQFACRSG TIQCIPLPWQ CDGWATCEDE
61 SDEANCPEVT GEVRPHHGKE AVDPRQGRAR GGDPSHFHAV NVAQPVRFSS FLGKCPTGWH
121 HYEGTASCYR VYLSGENYWD AAQTCQRLNG SLATFSTDQE LRFVLAQEWD QPERSFGWKD
181 QRKLWVGYQY VITGRNRSLE GRWEVAFKGS SEVFLPPDPI FASAMSENDN VFCAQLQCFH
241 FPTLRHHDLH SWHAESCYEK SSFLCKRSQT CVDIKDNVVD EGFYFTPKGD DPCLSCTCHG
301 GEPEMCVAAL CERPQGCQQY RKDPKECCKF MCLDPDGNSL FDSMASGMRL VVSCISSFLI
361 LSLLLFMVHR LRQRRRERIE SLIGANLHHF NLGRRIPGFD YGPDGFGTGL TPLHLSDDGE
421 GGTFHFHDPP PPYTAYKYPD IGQPDDPPPP YEASIHPDSV FYDPADDDAF EPVEVSLPAP
481 GDGGSEGALL RRLEQPLPTA GASLADLEDS ADSSSALLVP PDPAQSGSTP AAEALPGGGR
541 HSRSSLNTVVLocalizationUniProt · AlphaFold · HPA
Whether an antibody against DGCR2 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
- 1
- Mean surface accessibility (rSASA)
- 0.52
- Highest tissue expression
- 59 nTPM
Expression across tissuesHPA
Tissue
- skin: 59 nTPM
- cerebral cortex: 50 nTPM
- esophagus: 45 nTPM
- basal ganglia: 44 nTPM
- hippocampal formation: 44 nTPM
- cerebellum: 44 nTPM
Single-cell type
- neutrophils: 231 nCPM
- somatotrophs: 127 nCPM
- alveolar cells type 1: 120 nCPM
- oligodendrocyte progenitor cells: 106 nCPM
- rod photoreceptor cells: 99 nCPM
- neutrophil progenitors: 98 nCPM
Immune cell
- neutrophil: 24 nTPM
- eosinophil: 17 nTPM
- total PBMC: 11 nTPM
- classical monocyte: 10 nTPM
- basophil: 9.5 nTPM
- T-reg: 9.5 nTPM
Brain region
- hypothalamus: 90 nTPM
- cerebral cortex: 83 nTPM
- amygdala: 77 nTPM
- medulla oblongata: 77 nTPM
- midbrain: 74 nTPM
- thalamus: 74 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)
- 0.88
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.66
- DepMap mean gene effect
- -0.12
- 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
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- VWFC domain
- C-type lectin-like
- Low-density lipoprotein (LDL) receptor class A repeat
- C-type lectin-like/link domain superfamily
- C-type lectin fold
- Low-density lipoprotein (LDL) receptor class A, conserved site
- LDL receptor-like superfamily
- Low-density lipoprotein receptor domain class A
- Lectin C-type domain
- DGCR2-like, C-type lectin-like domain
- Integral membrane protein DGCR2/IDD
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of DGCR2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads DGCR2 as an antibody target. Whether an autoantibody or antibody against DGCR2 could matter depends on whether native DGCR2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DGCR2 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 DGCR2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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