DiGeorge syndrome critical region gene 2

Summary
Gene Symbol
  • DGCR2
Aliases
  • DGS-C
  • IDD
  • KIAA0163
  • LAN
  • SEZ-12
  • integral membrane protein DGCR2
Organism
Homo sapiens (human)
External Links
NCBI Gene
9993
HGNC
2845
KEGG Gene ID
hsa:9993
PubChem
9993
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Cell adhesion
  • Disulfide bond
  • Glycoprotein
  • Lectin
  • Phosphoprotein
  • Proteomics identification
  • Receptor
  • Reference proteome
  • Signal
  • Transmembrane helix
Proteins
Displaying all 4 entries
UniProt Protein Name
Q5CZ70
B7Z3T5
Q8IWC8
P98153
Human Protein Atlas
ENSG00000070413

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Disease
Disease Ontology
Displaying entries 1 - 10 of 92 in total
DO ID Disease Name Source
DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome
DOID:0050771 pheochromocytoma
DOID:0060041 autism spectrum disorder
DOID:0060229 Baraitser-Winter syndrome
DOID:0060232 branchiootic syndrome
DOID:0060316 orofaciodigital syndrome I
DOID:0060359 Sakati-Nyhan syndrome
DOID:0060380 orofaciodigital syndrome X
DOID:0060599 Nance-Horan syndrome
DOID:0060703 Muenke Syndrome
The Human Phenotype Ontology
Displaying entries 1 - 10 of 38 in total
HPO ID HPO Term
HP:0000006 Autosomal dominant inheritance
HP:0000023 Inguinal hernia
HP:0000028 Cryptorchidism
HP:0000175 Cleft palate
HP:0000176 Submucous cleft hard palate
HP:0000194 Open mouth
HP:0000201 Pierre-Robin sequence
HP:0000220 Velopharyngeal insufficiency
HP:0000252 Microcephaly
HP:0000278 Retrognathia
Displaying 1 entry
Disease ID Disease Name
OMIM:192430
  • velocardiofacial syndrome

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024