NCBI Summary
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].
Protein
Protein (NP_005128)
DiGeorge syndrome critical
Integral membrane protein DGCR2/IDD
DGCR2
DiGeorge syndrome critical region gene 2
Undefined
Very low evidence
C-type lectin
Undefined
C-type - Others
a/b mixed / C-type lectin-like
MVPKADSGAFLLLFLLVLTVTEPLRPELRCNPGQFACRSGTIQCIPLPWQCDGWATCEDESDEANCPEVTGEVRPHHGKEAVDPRQGRARGGDPSHFHAVNVAQPVRFSSFLGKCPTGWHHYEGTASCYRVYLSGENYWDAAQTCQRLNGSLATFSTDQELRFVLAQEWDQPERSFGWKDQRKLWVGYQYVITGRNRSLEGRWEVAFKGSSEVFLPPDPIFASAMSENDNVFCAQLQCFHFPTLRHHDLHSWHAESCYEKSSFLCKRSQTCVDIKDNVVDEGFYFTPKGDDPCLSCTCHGGEPEMCVAALCERPQGCQQYRKDPKECCKFMCLDPDGNSLFDSMASGMRLVVSCISSFLILSLLLFMVHRLRQRRRERIESLIGANLHHFNLGRRIPGFDYGPDGFGTGLTPLHLSDDGEGGTFHFHDPPPPYTAYKYPDIGQPDDPPPPYEASIHPDSVFYDPADDDAFEPVEVSLPAPGDGGSEGALLRRLEQPLPTAGASLADLEDSADSSSALLVPPDPAQSGSTPAAEALPGGGRHSRSSLNTVV
No structure currently available in the PDB RCSB Databank.
Structural models
SWISS-MODEL structural models
The location of the lectin domain structural model is: 113-241
We infer [1.64, 2.16] Å as the interval of error of this structural model.
Template 1: 6PY1 chain: A, Q8IUN9, NP_878910.1, sequence identity: 21.7%, coverage: 92.2%, location in sequence: 179-308, (179-308 in PDB).
Template 2: 5VYB chain: A, Q6EIG7, NP_001007034.1, sequence identity: 20.9%, coverage: 92.2%, location in sequence: 63-209, (63-209 in PDB).
Template 3: 4ZES chain: A, Q8WTT0, NP_569708.1, sequence identity: 18.6%, coverage: 94.6%, location in sequence: 67-213, (67-213 in PDB).
Show the alignment used for the construction of the structural model, Download.
Show the plot of DOPE energy score, Download.
We infer [1.64, 2.16] Å as the interval of error of this structural model.
Template 1: 6PY1 chain: A, Q8IUN9, NP_878910.1, sequence identity: 21.7%, coverage: 92.2%, location in sequence: 179-308, (179-308 in PDB).
Template 2: 5VYB chain: A, Q6EIG7, NP_001007034.1, sequence identity: 20.9%, coverage: 92.2%, location in sequence: 63-209, (63-209 in PDB).
Template 3: 4ZES chain: A, Q8WTT0, NP_569708.1, sequence identity: 18.6%, coverage: 94.6%, location in sequence: 67-213, (67-213 in PDB).
Show the alignment used for the construction of the structural model, Download.
Show the plot of DOPE energy score, Download.
Ligand
Glycan ligands from structural data
No crystal structures of complexes with glycan ligand.
References
NCBI References (10 PubMed Identifiers)
- DGCR2 influences cortical thickness through a mechanism independent of schizophrenia pathogenesis. [30901624]
- Novel pancreatic beta cell-specific proteins: antibody-based proteomics for identification of new biomarker candidates. [22465717]
- Analysis of copy number variation in Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals. [23227193]
- Exome sequencing supports a de novo mutational paradigm for schizophrenia. [21822266]
- Functional proteomics mapping of a human signaling pathway. [15231748]
- A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11. [8776594]
- Cloning of SEZ-12 encoding seizure-related and membrane-bound adhesion protein. [8630060]
- Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome. [7655455]
- Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity. [7633403]
- DiGeorge syndrome and 22q11 rearrangements. [3770751]
UniProt Main References (7 PubMed Identifiers)
- Discovery of novel human transcript variants by analysis of intronic single-block EST with polyadenylation site. [19906316]
- Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1. [8724849]
- Complete sequencing and characterization of 21,243 full-length human cDNAs. [14702039]
- A genome annotation-driven approach to cloning the human ORFeome. [15461802]
- The DNA sequence of human chromosome 22. [10591208]
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). [15489334]
- Toward a comprehensive characterization of a human cancer cell phosphoproteome. [23186163]
All isoforms of this gene containing a lectin domain
RNA
RNA (Transcript ID: NM_005137.3)
DiGeorge syndrome critical region gene 2, transcript variant 1
m7G-5')ppp(5'-AUCUUGCGCGCAGCUGGAGUCGGUGCCUGAGGUUGCAGCCGAGAGUGUGCGCCAGCCCGCGGCCCAGCCGAAGCUCUUUCCCGCCGCCUCUCCGCGCCUCGCCCAGGUUCAGCUCCGCCUGACCCUCCGCUUGGCACGGUCCCCUGACCCUCAGUCCGGCCUGGUCCGGCCUUCCAGCCGCCCCGGGGACGAUGAACGGAGGAUAAAUGGUGCCCAAGGCAGACAGCGGCGCCUUCCUGCUGCUCUUCCUGCUCGUGCUCACUGUCACCGAGCCGCUGCGGCCAGAGCUGCGGUGCAACCCUGGGCAGUUUGCGUGUCGCAGCGGCACCAUCCAGUGCAUCCCCCUCCCCUGGCAGUGUGACGGCUGGGCGACUUGCGAGGAUGAGAGCGACGAAGCCAACUGUCCAGAAGUGACCGGGGAGGUGCGUCCUCAUCAUGGGAAGGAGGCUGUGGAUCCGCGGCAGGGGCGGGCCAGAGGAGGCGACCCUUCGCACUUCCACGCGGUGAACGUGGCGCAGCCCGUUCGCUUCAGCAGUUUCCUAGGGAAGUGCCCGACAGGGUGGCACCACUACGAAGGCACGGCCAGCUGCUACCGGGUCUACCUGAGCGGGGAGAACUACUGGGAUGCCGCGCAGACCUGCCAGCGCCUGAAUGGCUCUCUCGCCACCUUCUCCACUGACCAGGAGCUGCGCUUUGUCCUGGCCCAGGAAUGGGACCAGCCCGAGCGGAGCUUUGGUUGGAAGGACCAGCGCAAGUUGUGGGUUGGCUAUCAGUAUGUUAUCACUGGCCGGAACCGCUCCUUGGAAGGUCGCUGGGAGGUGGCAUUCAAAGGCUCUUCAGAGGUGUUCCUGCCCCCAGACCCCAUCUUUGCCUCGGCCAUGUCUGAGAACGACAACGUGUUCUGUGCCCAGCUUCAGUGCUUCCAUUUCCCCACCCUGCGGCACCACGACCUCCACAGCUGGCACGCCGAGAGCUGCUACGAGAAGUCUUCAUUUCUGUGUAAAAGAAGUCAAACAUGUGUUGACAUCAAGGACAACGUGGUGGAUGAAGGGUUCUACUUCACCCCUAAGGGGGACGACCCAUGCCUGAGCUGCACCUGCCAUGGAGGGGAGCCUGAGAUGUGUGUGGCUGCUCUCUGUGAGAGGCCCCAGGGCUGCCAACAGUACCGCAAGGACCCCAAAGAGUGCUGCAAGUUCAUGUGUCUGGACCCAGAUGGCAACAGUCUGUUUGACUCCAUGGCCAGCGGGAUGCGCCUGGUCGUCAGCUGCAUCUCCUCCUUCCUCAUCCUGUCACUGCUGCUCUUCAUGGUCCACCGGCUGCGCCAGCGGCGCCGGGAGCGCAUCGAGUCCCUGAUUGGAGCAAACUUGCACCACUUCAACCUCGGCCGCAGGAUCCCUGGCUUUGAUUACGGCCCAGACGGGUUUGGCACGGGCCUCACGCCGCUGCAUCUUUCUGACGACGGAGAGGGUGGGACUUUCCAUUUCCACGACCCUCCACCUCCCUACACGGCAUACAAGUACCCGGACAUCGGCCAGCCCGACGACCCUCCGCCGCCCUACGAGGCCUCCAUCCACCCGGACAGUGUGUUCUAUGACCCUGCAGACGAUGAUGCUUUUGAGCCUGUGGAGGUCAGCCUGCCAGCCCCUGGGGAUGGUGGGAGUGAAGGUGCAUUACUCCGGCGCCUGGAGCAGCCUCUGCCCACUGCGGGGGCCUCUCUGGCAGACCUGGAAGACUCUGCCGACAGCAGCAGCGCCCUGCUCGUGCCCCCUGACCCUGCCCAGAGCGGGAGCACCCCAGCUGCAGAGGCACUGCCAGGGGGUGGCCGCCACAGCCGCAGCUCCCUCAAUACUGUGGUGUAGACGGCCUGGCCUGUACCCCAACGGUCUGGGAGCACCUGUCUGUUGUAGAAAACACCGGUCCCUGGGGAGACUUGAAAGGCCCCUGUCCCAGCCUGGACGCCACGCACUGCCGCACGUCACUGGCGGGCUCGCGUGUGUACAUAGAGACCACAGCCCGCCUUCUGCCAAAAGAAGUGAUGGCCUGCACCGAGCUUCCUUGAGGGCUUCAGAAACAUGCAUAGCUUUGGAUCACUGUCUUCUCCUUUAUAAAUGGCAGAAGAGUGACAAAAUUCAUUCAGACCGCACAUGUUAGAGGCAGGGAAUGAAGAAGGUACUGUGGGCCAUGGCCACACCUGAUGCGUUUUUGGUGGGCUUACUUGGUGCAGUGUGCUGUCCAGAGAGACCUGCUGACCCAGUCUGGGACAGGCACAGUGGGAGCUGCCACAGUGCCCCUUGCUGGCCGCCCUCAGGAGGGGGCCUCUGGACCGUCAGUGUGGCGUAGGCAGUGGGUCUGCUUCAGGGAGGCAGCCUCUUGACUUUGUCACAACGGUUGCACUGAAGAUGGCCCCCACAAGCCCAGUUGUGAAUAUCAAGGUGACCCUGCCCCUGGCUGGGAGCUCCCCUGGGGCUCUGGAACCUGAAGCCCUGAGAAGGAGAGCUUGGAAGGAGGUUGAGCUCUUCACUGUGUCUUUCCAUCUGGGCUCUGCAGCCCAGCUCUGUGGCAGGAGGCCUGACCCCACCCCAUCAGUCCCUCUCCCAGCAUUGCUGUGCAUGGCUCCCUCAGGAAGAAGCUCUGGAGUGGGGCCGAGGCCCCAGAUGCUCUGCUGGGGUCUGGGGACUGAGCUGCCUCCUGUCUCUCCACUCUGGAGCCCUGGGCUCUUGCCUCCUGUUGAAUUGCCCCUGGGCCUGCCCCCGGCCCCAUUUGUGCCAUAAAGGGUUGCUUCAUUGCAGGAGGGGUGGCUGAAACCACCAUCCUGGGCUGCAUCUAUCUCCUUAAAGUCCACUCCUUACAUCACCGCCACUACUGCAGCUCAGUGCCCAGCGGCCGCAUGCACACCUCCCGGCCCCUCCUCAGCAGCGCAGGGGCUGGGGGCCCUUCCUGGCACCCUUUUGCCUGACGGACCCUGUUGCCUGCUCCUGGGCAGUGGUUUUGUUGCCUGACACAGGGCCUUUAACAUUUCUGAGGUUUGGAGAUUAAGCGGGUUCUGUGCGAUUUUUAGCACAUCCAUAUCUUUUCUACGUUGAAUGUCUGGAUCUUUCCUUUGUAUGUUUGUGUCUCUGUGUGUGUAUGUGGCCAAGCGUCUGCAGGUGAGGGUGGCACAUGGAACUUCACGGGUCACUGGGGGCCCACUCUUCCAGGGUCAUCGAUGCAUCCUGGGCUGUGCUGAGGCAGUGCUGUCUCGCUCAGUCUUUCCAGACCAGCGGGGCAGCACCUGGGAGGCCUGUCUGAAGCAUGCAGUUCUGUGGUGCUGCUCGGGGAUGGACUCCAUGCACAGUCCACUUCUUGACACAUUCUCACACUGUGGCUGGAGACCCAUUUUUUCCAUCCCAUGUGGAAUGAGAAUCUUGAGUUGCCCACAGACAGACUUGACCUUUGUGCCAGAACUGUCCAGAGCUGUGAGUUUUGUUACUGAAUUGCCUGUCCCUGAGCUUGGCCUGCUGGAGCAUGAUGCUGGAGGCUGUGUGCGGGCAGGCUUGUGCUCCCCUUGGAGAAGGGCUGCUACUUAACAAGGAAGUCCUGGCCACAGGAGUCCCCUACUGGCUGCAGAGGACGAAGCAGGAAGCAUGCCGUGGAUCCCACAUGCACUGGGGCAGGGCAGCCAGGUUCCAGAGCAGCAGGCAUGUGCAUUAUGGGUGCCAGGUGGCCAGUGAGGGCCCGAGGACCACGCAGCAGAGUCCCCCACGGGCCUGAGCCUGAGAGCUCAGAGGAUUCCUGCCAGGCCUCAGAACUGUGUGUGCGGGACAGGGUGGCUGGCACGAGAUGUGUGGGACUGGGACGCUUCCUUUGGGGACCAGAGGAACAUUAGGGGCCGGUCAGACACGUAGGGGGCAGUGAGGAAACGGGGUAAAGUGGACCAUGCAGGCUGCAGAGGGUGGGCCUUGGGCUGGCCGGGGUUGCUGGGUGGCCCCUUCCCCAUGGGCCUCCACAAGCACUCAGGCCACUGGCACGUUGGGCCAGGCAGAAGGUCCACAUGGCAGGGCUGCCUGGAACACCGCUGCCACUGUGGCUCCAGGAGGCCCUUGGGAGCAUGAGGAGAGCUGGACUCGCUCAUCUGUUCUUGCACCACCAUCCAGAAUGCCCCCUUUGCAAGGCCUGCUGCAGUCCCCAGUCUGACCAGCAAGUCCCGGGGUCACCCUUGCUGAACCUUGUGCUCCAGGGGUCCUCCUCCUCUAGGACCAGCUUGCCACGGUUUCUCAGAGCCCAGGUGCCCUCUGACCUGCCAUGCGGAGGUGGGAUUUGAUACUGUACAUUGUCUUGAUGCCUGUUUUUUUAUGUUUUCAUUAAGGGUUUUUAGUUUUUGGUUGGGUUGACACUAACUUUUCUUAAGAUGCUGUGAGAAUCAUUUCAUCCAAAUGCCAAAUAAACUUGUGUUCCGGAA-3'- Poly-A tail - Coding region
DNA
DNA (Gene ID: 9993)
DiGeorge syndrome critical region gene 2
strand -
KIAA0163, LAN, IDD, DGS-C, SEZ-12
NCBI CDS gene sequence (1653 bp)
5'-ATGGTGCCCAAGGCAGACAGCGGCGCCTTCCTGCTGCTCTTCCTGCTCGTGCTCACTGTCACCGAGCCGCTGCGGCCAGAGCTGCGGTGCAACCCTGGGCAGTTTGCGTGTCGCAGCGGCACCATCCAGTGCATCCCCCTCCCCTGGCAGTGTGACGGCTGGGCGACTTGCGAGGATGAGAGCGACGAAGCCAACTGTCCAGAAGTGACCGGGGAGGTGCGTCCTCATCATGGGAAGGAGGCTGTGGATCCGCGGCAGGGGCGGGCCAGAGGAGGCGACCCTTCGCACTTCCACGCGGTGAACGTGGCGCAGCCCGTTCGCTTCAGCAGTTTCCTAGGGAAGTGCCCGACAGGGTGGCACCACTACGAAGGCACGGCCAGCTGCTACCGGGTCTACCTGAGCGGGGAGAACTACTGGGATGCCGCGCAGACCTGCCAGCGCCTGAATGGCTCTCTCGCCACCTTCTCCACTGACCAGGAGCTGCGCTTTGTCCTGGCCCAGGAATGGGACCAGCCCGAGCGGAGCTTTGGTTGGAAGGACCAGCGCAAGTTGTGGGTTGGCTATCAGTATGTTATCACTGGCCGGAACCGCTCCTTGGAAGGTCGCTGGGAGGTGGCATTCAAAGGCTCTTCAGAGGTGTTCCTGCCCCCAGACCCCATCTTTGCCTCGGCCATGTCTGAGAACGACAACGTGTTCTGTGCCCAGCTTCAGTGCTTCCATTTCCCCACCCTGCGGCACCACGACCTCCACAGCTGGCACGCCGAGAGCTGCTACGAGAAGTCTTCATTTCTGTGTAAAAGAAGTCAAACATGTGTTGACATCAAGGACAACGTGGTGGATGAAGGGTTCTACTTCACCCCTAAGGGGGACGACCCATGCCTGAGCTGCACCTGCCATGGAGGGGAGCCTGAGATGTGTGTGGCTGCTCTCTGTGAGAGGCCCCAGGGCTGCCAACAGTACCGCAAGGACCCCAAAGAGTGCTGCAAGTTCATGTGTCTGGACCCAGATGGCAACAGTCTGTTTGACTCCATGGCCAGCGGGATGCGCCTGGTCGTCAGCTGCATCTCCTCCTTCCTCATCCTGTCACTGCTGCTCTTCATGGTCCACCGGCTGCGCCAGCGGCGCCGGGAGCGCATCGAGTCCCTGATTGGAGCAAACTTGCACCACTTCAACCTCGGCCGCAGGATCCCTGGCTTTGATTACGGCCCAGACGGGTTTGGCACGGGCCTCACGCCGCTGCATCTTTCTGACGACGGAGAGGGTGGGACTTTCCATTTCCACGACCCTCCACCTCCCTACACGGCATACAAGTACCCGGACATCGGCCAGCCCGACGACCCTCCGCCGCCCTACGAGGCCTCCATCCACCCGGACAGTGTGTTCTATGACCCTGCAGACGATGATGCTTTTGAGCCTGTGGAGGTCAGCCTGCCAGCCCCTGGGGATGGTGGGAGTGAAGGTGCATTACTCCGGCGCCTGGAGCAGCCTCTGCCCACTGCGGGGGCCTCTCTGGCAGACCTGGAAGACTCTGCCGACAGCAGCAGCGCCCTGCTCGTGCCCCCTGACCCTGCCCAGAGCGGGAGCACCCCAGCTGCAGAGGCACTGCCAGGGGGTGGCCGCCACAGCCGCAGCTCCCTCAATACTGTGGTGTAG-3'
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