KEGG   Homo sapiens (human): 55252
Entry
55252             CDS       T01001                                 
Symbol
ASXL2, ASXH2, SHAPNS
Name
(RefSeq) ASXL transcriptional regulator 2
  KO
K11471  additional sex combs-like protein
Organism
hsa  Homo sapiens (human)
Pathway
hsa03083  Polycomb repressive complex
Network
nt06523  Epigenetic regulation by Polycomb complexes
  Element
N01585  Deubiquitination of H2AK119
Disease
H02460  Neurodevelopmental disorder with dysmorphic facies and skeletal anomalies
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09126 Chromosome
   03083 Polycomb repressive complex
    55252 (ASXL2)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    55252 (ASXL2)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Histone modification proteins
   Polycomb repressive complex (PRC) and associated proteins
    PR-DUB complex
     55252 (ASXL2)
SSDB
Motif
Pfam: ASXH PHD_3 HARE-HTH
Other DBs
NCBI-GeneID: 55252
NCBI-ProteinID: NP_060733
OMIM: 612991
HGNC: 23805
Ensembl: ENSG00000143970
UniProt: Q76L83
Position
2:complement(25733753..25878487)
AA seq 1435 aa
MREKGRRKKGRTWAEAAKTVLEKYPNTPMSHKEILQVIQREGLKEIRSGTSPLACLNAML
HTNSRGEEGIFYKVPGRMGVYTLKKDVPDGVKELSEGSEESSDGQSDSQSSENSSSSSDG
GSNKEGKKSRWKRKVSSSSPQSGCPSPTIPAGKVISPSQKHSKKALKQALKQQQQKKQQQ
QCRPSISISSNQHLSLKTVKAASDSVPAKPATWEGKQSDGQTGSPQNSNSSFSSSVKVEN
TLLGLGKKSFQRSERLHTRQMKRTKCADIDVETPDSILVNTNLRALINKHTFSVLPGDCQ
QRLLLLLPEVDRQVGPDGLMKLNGSALNNEFFTSAAQGWKERLSEGEFTPEMQVRIRQEI
EKEKKVEPWKEQFFESYYGQSSGLSLEDSKKLTASPSDPKVKKTPAEQPKSMPVSEASLI
RIVPVVSQSECKEEALQMSSPGRKEECESQGEVQPNFSTSSEPLLSSALNTHELSSILPI
KCPKDEDLLEQKPVTSAEQESEKNHLTTASNYNKSESQESLVTSPSKPKSPGVEKPIVKP
TAGAGPQETNMKEPLATLVDQSPESLKRKSSLTQEEAPVSWEKRPRVTENRQHQQPFQVS
PQPFLNRGDRIQVRKVPPLKIPVSRISPMPFHPSQVSPRARFPVSITSPNRTGARTLADI
KAKAQLVKAQRAAAAAAAAAAAAASVGGTIPGPGPGGGQGPGEGGEGQTARGGSPGSDRV
SETGKGPTLELAGTGSRGGTRELLPCGPETQPQSETKTTPSQAQPHSVSGAQLQQTPPVP
PTPAVSGACTSVPSPAHIEKLDNEKLNPTRATATVASVSHPQGPSSCRQEKAPSPTGPAL
ISGASPVHCAADGTVELKAGPSKNIPNPSASSKTDASVPVAVTPSPLTSLLTTATLEKLP
VPQVSATTAPAGSAPPSSTLPAASSLKTPGTSLNMNGPTLRPTSSIPANNPLVTQLLQGK
DVPMEQILPKPLTKVEMKTVPLTAKEERGMGALIATNTTENSTREEVNERQSHPATQQQL
GKTLQSKQLPQVPRPLQLFSAKELRDSSIDTHQYHEGLSKATQDQILQTLIQRVRRQNLL
SVVPPSQFNFAHSGFQLEDISTSQRFMLGFAGRRTSKPAMAGHYLLNISTYGRGSESFRR
THSVNPEDRFCLSSPTEALKMGYTDCKNATGESSSSKEDDTDEESTGDEQESVTVKEEPQ
VSQSAGKGDTSSGPHSRETLSTSDCLASKNVKAEIPLNEQTTLSKENYLFTRGQTFDEKT
LARDLIQAAQKQMAHAVRGKAIRSSPELFSSTVLPLPADSPTHQPLLLPPLQTPKLYGSP
TQIGPSYRGMINVSTSSDMDHNSAVPGSQVSSNVGDVMSFSVTVTTIPASQAMNPSSHGQ
TIPVQAFSEENSIEGTPSKCYCRLKAMIMCKGCGAFCHDDCIGPSKLCVSCLVVR
NT seq 4308 nt   +upstreamnt  +downstreamnt
atgagggaaaagggacgtaggaagaagggcaggacctgggcggaggccgccaagacggtc
ttagaaaaataccccaatacacccatgagtcataaagaaattcttcaagttatccagaga
gaaggactaaaagaaatcagaagtgggacttctcctcttgcatgcctgaatgcaatgctt
cacacaaactccagaggtgaagagggcatcttctataaggttccaggtagaatgggagta
tatactttgaagaaagatgtgccggatggggtgaaagagctgtcagaaggttcagaagaa
agcagtgatggtcagtcagattcccagagttctgagaacagcagcagcagcagtgatggt
ggcagcaacaaggagggaaaaaagagcaggtggaaaaggaaagtatcgtcgtcctccccg
cagtcaggctgcccatcacccaccattccagcaggtaaagtcatttctccatcacagaag
cacagcaagaaggcactaaagcaggcgctaaagcagcaacagcagaagaagcagcagcag
caatgcaggccaagcatatccatctcctccaaccagcatctctcactaaagactgtcaaa
gcagccagtgactctgtacctgccaaacctgcaacatgggaaggaaagcaatctgatgga
cagacaggcagccctcaaaactcaaactccagcttttcttcctcagttaaagtggaaaat
actttactaggcttggggaagaagtcattccagagatctgagagactccataccagacaa
atgaaaagaactaaatgtgctgacattgacgttgagacaccggactccattctggttaat
acaaatctgcgagcactgatcaacaagcacacattttcagtccttcctggagattgccag
caacgactgcttttactactcccagaggtagatcgacaggttggtccagatggtttaatg
aagttaaatggctcagcccttaacaatgaattcttcacttcagcagcccaaggctggaag
gaaagactctcagaaggtgagtttacacctgagatgcaggtgagaattcgacaagagatt
gagaaggagaaaaaagtggagccatggaaagaacaattctttgaaagctactatgggcag
agttctggcctgagccttgaagattctaagaaattgacagcttctcccagtgatcccaaa
gtaaagaaaaccccagctgaacaaccaaaatccatgcctgtgtcagaggcctctcttatc
agaatagttccagtagtctcccagtcagagtgtaaagaagaagcattgcaaatgtcatca
ccaggcagaaaagaagagtgtgaaagccaaggtgaagtgcagccgaacttctccacatct
tcagagcccctgctttcctcagctctcaatacacatgagcttagcagcattcttcccatc
aagtgcccaaaggatgaggatctcttggagcagaagccagtcacctctgctgaacaggaa
tctgagaagaaccatctcaccacagcttctaattataacaaaagtgaaagccaagaatct
ttagttacatcgccaagcaaacccaagagtcctggggttgaaaaaccaatagtgaagccc
acagcaggagcgggtccacaggagactaatatgaaagaacctctagcaactcttgttgat
cagagcccagaaagcctcaagaggaagtcttccctcacccaagaagaggcccctgtgagc
tgggagaagaggccacgtgtcactgagaatcgccagcaccagcagccatttcaggtctca
ccacagccctttctcaatagaggggacagaatccaggtgcgaaaagtaccacctctcaag
atcccggtctccagaatctcccccatgccgtttcatccatcgcaggtctctcccagggct
cgttttccagtctccatcactagtcctaacagaacaggagccagaactcttgcagacatc
aaagcaaaagcccaactggtcaaagcacagagggcagcagctgccgctgccgccgcagct
gctgcagccgcctcagttggagggaccattccaggacctggcccagggggtggacaaggt
ccaggagagggtggtgaagggcagactgctagaggaggcagtccaggctcagacagagtc
agtgaaactggaaagggccccacactggaactggcaggaactggaagcaggggaggtacg
agagagcttttaccctgtggtccagagactcagccccagtctgagaccaagaccacccca
agccaggcacagcctcatagtgtctctggagcacaactacagcaaacccccccagtgcct
ccaacacctgccgtcagtggagcatgcacaagtgtcccatcaccagcccacatagagaaa
ttggataatgaaaaactgaaccccaccagagcaacagccacagtggcctctgtcagccat
ccacaagggcccagtagttgcagacaggagaaagcaccttctccaacaggtcctgctcta
atctcaggtgcctcacctgttcattgtgcagctgatggcacagttgagctcaaagcaggt
cctagtaagaatatacctaacccttcagcctcatcaaagacagatgctagtgtgccagtg
gctgtaactccctcccctttaacatctttattgaccacagccactttagaaaagcttcct
gtaccccaggtcagtgcaactacagcacctgctggatcagctccaccctcgagcactttg
ccagcagcttctagccttaaaaccccaggaacttctttaaacatgaatggacccacttta
agaccaacctctagtatccctgctaataatcctttagtgactcagctgcttcaaggcaaa
gatgttcccatggagcaaattctgcctaaacctctcaccaaagttgaaatgaaaacggtt
ccactgactgcaaaagaggaaagggggatgggagcgctcatagctaccaacacaacagaa
aatagcaccagagaggaagttaatgagagacagtcccatccagctacgcagcagcagctg
ggcaaaaccttgcaaagtaagcagctcccccaggttccaaggccccttcagctcttttca
gctaaggagctgagggactccagcattgacacacaccaataccacgaaggactaagtaaa
gcaacccaagatcagatccttcagactctcattcagagggttcggaggcagaatcttctc
tcagttgtgccgccctcacagttcaacttcgctcactcaggtttccagctggaagacatc
tccacaagccagaggttcatgctgggttttgctggcagaaggacatccaaacctgcaatg
gcagggcactacttactgaatatttctacctacggccggggctcagagagctttaggagg
acccattctgtaaaccctgaagatcgtttttgtctaagcagccccactgaagccttgaaa
atgggatatacagactgtaaaaatgcaacaggagagagtagcagcagcaaagaagatgac
actgatgaggaaagtactggtgatgagcaggaatctgtcacagtgaaagaggagccccag
gtttcccagagtgctggcaagggtgacacaagttcaggacctcacagcagggaaactcta
tctaccagtgattgcttagctagcaagaatgtgaaggctgagataccattgaatgagcaa
accactttaagtaaggagaattacctgttcactagaggccaaacatttgatgaaaagacc
ctagccagagatttaattcaggcagcacagaagcagatggctcatgcagtgagaggtaag
gcaatccgtagcagccccgagcttttcagttctactgttcttcctctgcctgcagacagc
cccacccaccagcccctactccttccacccctgcaaaccccgaagttgtatggaagcccc
acccagatagggccaagctatagaggcatgatcaatgtctccacctcatctgacatggac
cataactctgctgtaccaggtagccaggtatctagcaatgtaggtgatgtcatgtcattt
tcagtgactgtcactaccatccctgctagccaagctatgaatcccagcagccatggccag
accattcctgttcaggcgttctccgaagagaacagcatagagggcacgccttcgaaatgt
tactgccgcttgaaagccatgatcatgtgcaaaggctgtggcgctttctgccatgatgat
tgcatcggcccctccaaactgtgcgtctcctgccttgtcgttcggtaa

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Ontology (2)   
   KEGG BRITE (2)   
Pathway (1)   
   KEGG PATHWAY (1)   
Network (2)   
   KEGG NETWORK (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (43)   
   KEGG ORTHOLOGY (1)   
   RefGene (28)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (9)   
   OC (1)   
Protein sequence (5)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (3)   
DNA sequence (21)   
   RefSeq(nuc) (3)   
   GenBank (9)   
   EMBL (9)   
Protein domain (3)   
   Pfam (3)   
All databases (81)   

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