KEGG   Homo sapiens (human): 26053
Entry
26053             CDS       T01001                                 
Symbol
AUTS2, FBRSL2, MRD26
Name
(RefSeq) autism susceptibility gene 2 protein isoform 1
  KO
K23214  autism susceptibility gene 2 protein
Organism
hsa  Homo sapiens (human)
Pathway
hsa03083  Polycomb repressive complex
Network
nt06523  Epigenetic regulation by Polycomb complexes
  Element
N01620  Blocking ubiquitination of H2AK119 by CK2
N01701  Transcriptional activation by acetylation of H3K27
Disease
H00773  Autosomal dominant intellectual developmental disorder
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09126 Chromosome
   03083 Polycomb repressive complex
    26053 (AUTS2)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    26053 (AUTS2)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Histone modification proteins
   Polycomb repressive complex (PRC) and associated proteins
    Noncanonical PRC1 (PRC1.3/1.5)
     26053 (AUTS2)
SSDB
Motif
Pfam: Auts2
Other DBs
NCBI-GeneID: 26053
NCBI-ProteinID: NP_056385
OMIM: 607270
HGNC: 14262
Ensembl: ENSP00000344087.4
UniProt: Q8WXX7
Position
7:69598475..70793506
AA seq 1259 aa
MDGPTRGHGLRKKRRSRSQRDRERRSRGGLGAGAAGGGGAGRTRALSLASSSGSDKEDNG
KPPSSAPSRPRPPRRKRRESTSAEEDIIDGFAMTSFVTFEALEKDVALKPQERVEKRQTP
LTKKKREALTNGLSFHSKKSRLSHPHHYSSDRENDRNLCQHLGKRKKMPKALRQLKPGQN
SCRDSDSESASGESKGFHRSSSRERLSDSSAPSSLGTGYFCDSDSDQEEKASDASSEKLF
NTVIVNKDPELGVGTLPEHDSQDAGPIVPKISGLERSQEKSQDCCKEPIFEPVVLKDPCP
QVAQPIPQPQTEPQLRAPSPDPDLVQRTEAPPQPPPLSTQPPQGPPEAQLQPAPQPQVQR
PPRPQSPTQLLHQNLPPVQAHPSAQSLSQPLSAYNSSSLSLNSLSSSRSSTPAKTQPAPP
HISHHPSASPFPLSLPNHSPLHSFTPTLQPPAHSHHPNMFAPPTALPPPPPLTSGSLQVA
GHPAGSTYSEQDILRQELNTRFLASQSADRGASLGPPPYLRTEFHQHQHQHQHTHQHTHQ
HTFTPFPHAIPPTAIMPTPAPPMFDKYPTKVDPFYRHSLFHSYPPAVSGIPPMIPPTGPF
GSLQGAFQPKTSNPIDVAARPGTVPHTLLQKDPRLTDPFRPMLRKPGKWCAMHVHIAWQI
YHHQQKVKKQMQSDPHKLDFGLKPEFLSRPPGPSLFGAIHHPHDLARPSTLFSAAGAAHP
TGTPFGPPPHHSNFLNPAAHLEPFNRPSTFTGLAAVGGNAFGGLGNPSVTPNSMFGHKDG
PSVQNFSNPHEPWNRLHRTPPSFPTPPPWLKPGELERSASAAAHDRDRDVDKRDSSVSKD
DKERESVEKRHSSHPSPAPVLPVNALGHTRSSTEQIRAHLNTEAREKDKPKERERDHSES
RKDLAADEHKAKEGHLPEKDGHGHEGRAAGEEAKQLARVPSPYVRTPVVESARPNSTSSR
EAEPRKGEPAYENPKKSSEVKVKEERKEDHDLPPEAPQTHRASEPPPPNSSSSVHPGPLA
SMPMTVGVTGIHPMNSISSLDRTRMMTPFMGISPLPGGERFPYPSFHWDPIRDPLRDPYR
ELDIHRRDPLGRDFLLRNDPLHRLSTPRLYEADRSFRDREPHDYSHHHHHHHHPLSVDPR
REHERGGHLDERERLHMLREDYEHTRLHSVHPASLDGHLPHPSLITPGLPSMHYPRISPT
AGNQNGLLNKTPPTAALSAPPPLISTLGGRPVSPRRTTPLSAEIRERPPSHTLKDIEAR
NT seq 3780 nt   +upstreamnt  +downstreamnt
atggatggcccgacgcggggccatggactccgcaaaaagcggcggtcgcggtcgcagcga
gaccgggagaggcgctcccggggcgggctgggggccggcgcggccggcggcggcggggct
ggccggacccgggcgctctcactcgcctcgtcgtcgggctccgacaaggaagacaatggg
aagcccccgtcctccgccccgtcccggcccagacccccgcggaggaagcggagagagtcc
acctcggcagaagaggacatcattgatggatttgccatgaccagctttgtcacttttgaa
gcgctggagaaagatgtagcacttaagcctcaggaacgtgtggagaaacgccagacgccc
ctgaccaagaagaaacgagaagcacttaccaatggcttgtcctttcattcaaagaagagc
agactcagccacccacaccactacagctcagatcgagaaaatgaccgcaatctctgccag
caccttgggaagagaaagaaaatgccgaaggcactcagacagctcaagccaggacagaac
agctgcagggacagtgacagtgaaagtgccagtggagaatccaagggcttccaccggagc
agctctcgggaaaggctcagtgatagttcagctccttccagcttgggaacaggctacttc
tgtgacagtgacagtgaccaggaagagaaggcatcagatgccagctctgaaaaactcttc
aacactgttattgtaaacaaagatccggagttaggtgttggcacgctaccagaacatgac
agccaggatgcagggccgattgtccccaagatatcgggtctagagagaagccaggagaag
agccaggactgttgcaaagagccaatctttgagcctgtggtgcttaaagacccctgccct
caggtcgcacagccaataccccagccgcagacggagccccaactccgagctccttctccg
gaccctgacttggtgcagcgcacagaggccccacctcaacccccacctctgagtacacag
ccaccacagggccctcctgaggcccagctccagcctgccccgcagcctcaggtgcagagg
ccacccaggccacagtcccccacccagctgctccatcagaacctcccacctgtgcaggcc
cacccctctgctcagagcctctcccagccattgtcagcctacaacagcagtagcttaagc
ctcaacagtttaagcagcagcagaagcagcactccagcgaagactcagcccgccccacct
cacatctcccaccacccctctgcctccccgttccccctctccctgcccaaccacagcccc
ctgcacagcttcacacccaccctccagccccccgcacactcacatcaccccaatatgttt
gcccctcccactgctctgcctcctccaccaccactgacatcaggaagtctgcaggtggcc
ggacacccggccgggagcacttactcagagcaagacatcttgcgacaggaactgaacact
cgttttttggcctctcagagtgctgaccgcggggcttccctgggccctccgccctacctg
cggaccgagttccatcagcaccagcaccagcaccagcacacccaccagcacacgcaccag
cacaccttcacgccgttcccccacgccatcccacccaccgccatcatgccgacgccagca
cctcccatgtttgacaaataccctacaaaagttgacccattctaccggcacagtctcttc
cattcctatcctcctgcagtgtcgggcatcccccctatgatcccacccactggccctttt
ggttcactacaaggagcatttcagccgaagacatccaaccctatcgatgtcgctgctcgg
cctgggacagtcccacacactttactccaaaaggacccgaggttgacagatcctttcaga
cctatgttaaggaaaccagggaagtggtgtgctatgcatgttcacatcgcctggcagatt
taccaccaccaacagaaagtcaagaaacagatgcagtcagacccacataagctggacttt
ggactgaaacctgagttcctgagccgccctccaggccccagtctttttggagccatccac
cacccccatgacctggcacggccttcaactttgttctctgccgctggtgctgcacaccca
actgggaccccttttgggccacctcctcatcacagcaacttcctcaaccctgctgcccac
ctagagccttttaatcggccgtctacattcacaggcctagcagcagttggtggcaatgcc
ttcgggggacttggaaatccttccgttacacccaactcaatgttcggccacaaggatggc
cccagtgtgcagaactttagcaaccctcacgaaccctggaaccggctgcaccgaacgcct
ccgtcgttcccgacccctccgccctggctgaagccaggggagctggagcgcagcgcgtcc
gctgcagctcatgacagagatagagatgtagataaacgagactcatctgttagtaaagat
gacaaagaaagggaaagcgtcgagaagagacactccagccacccttcaccagcacctgtc
ctcccggtgaatgccctgggacatacccgcagctccactgaacagatccgggctcatctg
aacactgaggctcgggagaaggacaaacccaaagagagggagagagaccactcggaatcc
cgcaaggacctggccgccgacgagcacaaggcgaaagagggccacctgcccgagaaggac
gggcacggccacgaggggcgcgccgcgggcgaagaggccaagcagctggcccgggtgccg
tctccctacgtgcggaccccggtggtggagagtgccaggcccaacagcacctcgagccgg
gaggccgagccgcgcaagggtgagccggcctacgagaaccccaagaagagctccgaggtc
aaggtgaaggaggagcggaaggaagaccatgacctgcctccagaggccccgcagacccac
cgggcctcggagccgccgcctcccaactcctcgtccagcgtgcacccggggcccctggcc
tcgatgcccatgacggtgggggtgacgggcattcaccccatgaacagcatcagcagcctg
gacaggactcgcatgatgacccccttcatgggcatcagccccctcccgggcggagagcgc
ttcccgtacccttctttccactgggaccccatccgggaccccttgagggatccttaccga
gaacttgacattcaccggagagacccgctgggcagggacttcctgctaaggaacgacccg
ctccaccggctctcgactccccggctgtacgaagccgaccgctccttcagggaccgggag
cctcacgactacagccaccaccaccaccaccaccaccacccgctgtctgtggaccctcgg
cgggagcacgagcggggaggccacctggacgagcgggagcgcttgcacatgctcagagaa
gactacgagcacacgcggctccactccgtgcaccccgcctccctcgacggacacctcccc
caccccagcctcatcaccccgggactccccagcatgcactatccccgcatcagccccacc
gcgggcaaccagaacggactcctcaacaagacccctccgacagcagcgctgagcgcacct
cccccgctcatctccacgctggggggccgcccggtctctcccagaaggacgactcctctg
tccgcagagataagggagaggcccccttcccacacgctgaaggatatcgaggcccgataa

  All links  
Disease (2)   
   OMIM (2)   
Gene (44)   
   RefGene (30)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (9)   
   OC (1)   
Protein sequence (57)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (55)   
DNA sequence (83)   
   RefSeq(nuc) (55)   
   GenBank (14)   
   EMBL (14)   
Protein domain (1)   
   Pfam (1)   
All databases (187)   

Download RDF
DBGET integrated database retrieval system