KEGG T01001: 5897

Homo sapiens (human): 5897

Entry

5897 CDS T01001

Gene name

RAG2, RAG-2

Definition

recombination activating gene 2

Orthology

K10988

recombination-activating protein 2

Organism

hsa Homo sapiens (human)

Pathway

hsa05340

Primary immunodeficiency

Disease

H00092	T-B-Severe combined immunodeficiencies (SCIDs)
H00093	Combined immunodeficiencies (CIDs)

Class

Human Diseases; Immune diseases; Primary immunodeficiency [PATH:hsa05340]

SSDB

Motif

Pfam:

RAG2 RAG2_PHD Kelch_3 Kelch_5 PHD CHU_C HARE-HTH

Other DBs

NCBI-GI:

NCBI-GeneID:

OMIM:

HGNC:

HPRD:

Ensembl:

Vega:

UniProt:

Position

11p13

AA seq 527 aa
MSLQMVTVSNNIALIQPGFSLMNFDGQVFFFGQKGWPKRSCPTGVFHLDVKHNHVKLKPT
IFSKDSCYLPPLRYPATCTFKGSLESEKHQYIIHGGKTPNNEVSDKIYVMSIVCKNNKKV
TFRCTEKDLVGDVPEARYGHSINVVYSRGKSMGVLFGGRSYMPSTHRTTEKWNSVADCLP
CVFLVDFEFGCATSYILPELQDGLSFHVSIAKNDTIYILGGHSLANNIRPANLYRIRVDL
PLGSPAVNCTVLPGGISVSSAILTQTNNDEFVIVGGYQLENQKRMICNIISLEDNKIEIR
EMETPDWTPDIKHSKIWFGSNMGNGTVFLGIPGDNKQVVSEGFYFYMLKCAEDDTNEEQT
TFTNSQTSTEDPGDSTPFEDSEEFCFSAEANSFDGDDEFDTYNEDDEEDESETGYWITCC
PTCDVDINTWVPFYSTELNKPAMIYCSHGDGHWVHAQCMDLAERTLIHLSAGSNKYYCNE
HVEIARALHTPQRVLPLKKPPMKSLRKKGSGKILTPAKKSFLRRLFD

NT seq 1584 nt +upstreamnt +downstreamnt
atgtctctgcagatggtaacagtcagtaataacatagccttaattcagccaggcttctca
ctgatgaattttgatggacaagttttcttctttggacaaaaaggctggcccaaaagatcc
tgccccactggagttttccatctggatgtaaagcataaccatgtcaaactgaagcctaca
attttctctaaggattcctgctacctccctcctcttcgctacccagccacttgcacattc
aaaggcagcttggagtctgaaaagcatcaatacatcatccatggagggaaaacaccaaac
aatgaggtttcagataagatttatgtcatgtctattgtttgcaagaacaacaaaaaggtt
acttttcgctgcacagagaaagacttggtaggagatgttcctgaagccagatatggtcat
tccattaatgtggtgtacagccgagggaaaagtatgggtgttctctttggaggacgctca
tacatgccttctacccacagaaccacagaaaaatggaatagtgtagctgactgcctgccc
tgtgttttcctggtggattttgaatttgggtgtgctacatcatacattcttccagaactt
caggatgggctatcttttcatgtctctattgccaaaaatgacaccatctatattttagga
ggacattcacttgccaataatatccggcctgccaacctgtacagaataagggttgatctt
cccctgggtagcccagctgtgaattgcacagtcttgccaggaggaatctctgtctccagt
gcaatcctgactcaaactaacaatgatgaatttgttattgttggtggctatcagcttgaa
aatcaaaaaagaatgatctgcaacatcatctctttagaggacaacaagatagaaattcgt
gagatggagaccccagattggaccccagacattaagcacagcaagatatggtttggaagc
aacatgggaaatggaactgtttttcttggcataccaggagacaataaacaagttgtttca
gaaggattctatttctatatgttgaaatgtgctgaagatgatactaatgaagagcagaca
acattcacaaacagtcaaacatcaacagaagatccaggggattccactccctttgaagac
tctgaagaattttgtttcagtgcagaagcaaatagttttgatggtgatgatgaatttgac
acctataatgaagatgatgaagaagatgagtctgagacaggctactggattacatgctgc
cctacttgtgatgtggatatcaacacttgggtaccattctattcaactgagctcaacaaa
cccgccatgatctactgctctcatggggatgggcactgggtccatgctcagtgcatggat
ctggcagaacgcacactcatccatctgtcagcaggaagcaacaagtattactgcaatgag
catgtggagatagcaagagctctacacactccccaaagagtcctacccttaaaaaagcct
ccaatgaaatccctccgtaaaaaaggttctggaaaaatcttgactcctgccaagaaatcc
tttcttagaaggttgtttgattag

All links

Ontology (1)   
   KEGG BRITE (1)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (6)   
   KEGG DISEASE (2)   
   OMIM (4)   
Genome (1)   
   KEGG GENOME (1)   
Gene (14)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (6)   
   UniGene (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
   OC (1)   
   VEGA (1)   
Protein sequence (4)   
   UniProt (1)   
   RefSeq(pep) (3)   
DNA sequence (34)   
   RefSeq(nuc) (4)   
   GenBank (15)   
   EMBL (15)   
Protein domain (7)   
   Pfam (7)   
All databases (68)   

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