• Gene id: 9993

Gene Summary

• Gene Symbol: DGCR2   Gene   UCSC   Ensembl
• Aliases: DGS-C, IDD, LAN, SEZ-12
• Gene name: DiGeorge syndrome critical region gene 2
• Alternate names: integral membrane protein DGCR2/IDD, DiGeorge syndrome critical region protein 2, integral membrane protein deleted in DiGeorge syndrome,
• Gene location: 22q11.21 (19122453: 19036281)     Exons: 11     NC_000022.11
• Gene summary(Entrez): 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
• OMIM: 600594

Protein Summary

• Protein general information: P98153  
  • Name: Integral membrane protein DGCR2/IDD
  • Length: 550  
  • Mass: 60811
  • Tissue specificity: Predominantly expressed in brain, heart, lung and fetal kidney. Low levels in liver and adult kidney.
• Sequence:

  MVPKADSGAFLLLFLLVLTVTEPLRPELRCNPGQFACRSGTIQCIPLPWQCDGWATCEDESDEANCPEVTGEVRP
  HHGKEAVDPRQGRARGGDPSHFHAVNVAQPVRFSSFLGKCPTGWHHYEGTASCYRVYLSGENYWDAAQTCQRLNG
  SLATFSTDQELRFVLAQEWDQPERSFGWKDQRKLWVGYQYVITGRNRSLEGRWEVAFKGSSEVFLPPDPIFASAM
  SENDNVFCAQLQCFHFPTLRHHDLHSWHAESCYEKSSFLCKRSQTCVDIKDNVVDEGFYFTPKGDDPCLSCTCHG
  GEPEMCVAALCERPQGCQQYRKDPKECCKFMCLDPDGNSLFDSMASGMRLVVSCISSFLILSLLLFMVHRLRQRR
  RERIESLIGANLHHFNLGRRIPGFDYGPDGFGTGLTPLHLSDDGEGGTFHFHDPPPPYTAYKYPDIGQPDDPPPP
  YEASIHPDSVFYDPADDDAFEPVEVSLPAPGDGGSEGALLRRLEQPLPTAGASLADLEDSADSSSALLVPPDPAQ
  SGSTPAAEALPGGGRHSRSSLNTVV

• Structural information:
  • Protein Domains: (28..6-)
    A (/note="LDL-receptor-class)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00124-)
    (115..24-)
    (/note="C-type-lectin)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00040-)
    (270..33-)
    (/note="VWFC"-)
  • Interpro: IPR001304  IPR016186  IPR016187  IPR034010  IPR042378   IPR036055  IPR023415  IPR002172  IPR001007  
  • Prosite: PS50041 PS01209 PS50068 PS01208
  • CDD: cd03599 cd00112
  • STRING: ENSP00000263196
• Other Databases: GeneCards:  DGCR2  Malacards:  DGCR2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016020	membrane	IBA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0030246	carbohydrate binding	IEA	molecular function
GO:0009887	animal organ morphogenesis	TAS	biological process
GO:0016020	membrane	IEA	cellular component
GO:0050890	cognition	IMP	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq