Homo sapiens (human): 6311
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Entry
6311 CDS
T01001
Symbol
ATXN2, ATX2, SCA2, TNRC13
Name
(RefSeq) ataxin 2
KO
K23625
ataxin 2/2L
Organism
hsa
Homo sapiens (human)
Pathway
hsa05014
Amyotrophic lateral sclerosis
hsa05017
Spinocerebellar ataxia
hsa05022
Pathways of neurodegeneration - multiple diseases
Network
nt06462
Spinocerebellar ataxia
nt06466
Pathways of neurodegeneration
Element
N00957
Mutation-caused abberant ATXN2/3 to mGluR5-Ca2+ -apoptotic pathway
Disease
H00063
Spinocerebellar ataxia (SCA)
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09160 Human Diseases
09164 Neurodegenerative disease
05014 Amyotrophic lateral sclerosis
6311 (ATXN2)
05017 Spinocerebellar ataxia
6311 (ATXN2)
05022 Pathways of neurodegeneration - multiple diseases
6311 (ATXN2)
09180 Brite Hierarchies
09182 Protein families: genetic information processing
03019 Messenger RNA biogenesis [BR:
hsa03019
]
6311 (ATXN2)
Messenger RNA biogenesis [BR:
hsa03019
]
Eukaryotic type
mRNA surveillance and transport factors
mRNA cycle factors
Common to processing body (P body) and stress granule
6311 (ATXN2)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
SM-ATX
LsmAD
PAM2
LSM
Motif
Other DBs
NCBI-GeneID:
6311
NCBI-ProteinID:
NP_002964
OMIM:
601517
HGNC:
10555
Ensembl:
ENSG00000204842
UniProt:
Q99700
V9GY86
Structure
PDB
PDBj
LinkDB
All DBs
Position
12:complement(111452214..111599673)
Genome browser
AA seq
1153 aa
AA seq
DB search
MSLKPQQQQQQQQQQQQQQQQQQQQQQQPPPAAANVRKPGGSGLLASPAAAPSPSSSSVS
SSSATAPSSVVAATSGGGRPGLGRGRNSNKGLPQSTISFDGIYANMRMVHILTSVVGSKC
EVQVKNGGIYEGVFKTYSPKCDLVLDAAHEKSTESSSGPKREEIMESILFKCSDFVVVQF
KDMDSSYAKRDAFTDSAISAKVNGEHKEKDLEPWDAGELTANEELEALENDVSNGWDPND
MFRYNEENYGVVSTYDSSLSSYTVPLERDNSEEFLKREARANQLAEEIESSAQYKARVAL
ENDDRSEEEKYTAVQRNSSEREGHSINTRENKYIPPGQRNREVISWGSGRQNSPRMGQPG
SGSMPSRSTSHTSDFNPNSGSDQRVVNGGVPWPSPCPSPSSRPPSRYQSGPNSLPPRAAT
PTRPPSRPPSRPSRPPSHPSAHGSPAPVSTMPKRMSSEGPPRMSPKAQRHPRNHRVSAGR
GSISSGLEFVSHNPPSEAATPPVARTSPSGGTWSSVVSGVPRLSPKTHRPRSPRQNSIGN
TPSGPVLASPQAGIIPTEAVAMPIPAASPTPASPASNRAVTPSSEAKDSRLQDQRQNSPA
GNKENIKPNETSPSFSKAENKGISPVVSEHRKQIDDLKKFKNDFRLQPSSTSESMDQLLN
KNREGEKSRDLIKDKIEPSAKDSFIENSSSNCTSGSSKPNSPSISPSILSNTEHKRGPEV
TSQGVQTSSPACKQEKDDKEEKKDAAEQVRKSTLNPNAKEFNPRSFSQPKPSTTPTSPRP
QAQPSPSMVGHQQPTPVYTQPVCFAPNMMYPVPVSPGVQPLYPIPMTPMPVNQAKTYRAV
PNMPQQRQDQHHQSAMMHPASAAGPPIAATPPAYSTQYVAYSPQQFPNQPLVQHVPHYQS
QHPHVYSPVIQGNARMMAPPTHAQPGLVSSSATQYGAHEQTHAMYACPKLPYNKETSPSF
YFAISTGSLAQQYAHPNATLHPHTPHPQPSATPTGQQQSQHGGSHPAPSPVQHHQHQAAQ
ALHLASPQQQSAIYHAGLAPTPPSMTPASNTQSPQNSFPAAQQTVFTIHPSHVQPAYTNP
PHMAHVPQAHVQSGMVPSHPTAHAPMMLMTTQPPGGPQAALAQSALQPIPVSTTAHFPYM
THPSVQAHHQQQL
NT seq
3462 nt
NT seq
+upstream
nt +downstream
nt
atgtcgctgaagccccagcagcagcagcagcagcagcagcagcagcagcagcagcaacag
cagcagcagcagcagcagcagcagccgccgcccgcggctgccaatgtccgcaagcccggc
ggcagcggccttctagcgtcgcccgccgccgcgccttcgccgtcctcgtcctcggtctcc
tcgtcctcggccacggctccctcctcggtggtcgcggcgacctccggcggcgggaggccc
ggcctgggcagaggtcgaaacagtaacaaaggactgcctcagtctacgatttcttttgat
ggaatctatgcaaatatgaggatggttcatatacttacatcagttgttggctccaaatgt
gaagtacaagtgaaaaatggaggtatatatgaaggagtttttaaaacttacagtccgaag
tgtgatttggtacttgatgccgcacatgagaaaagtacagaatccagttcggggccgaaa
cgtgaagaaataatggagagtattttgttcaaatgttcagactttgttgtggtacagttt
aaagatatggactccagttatgcaaaaagagatgcttttactgactctgctatcagtgct
aaagtgaatggcgaacacaaagagaaggacctggagccctgggatgcaggtgaactcaca
gccaatgaggaacttgaggctttggaaaatgacgtatctaatggatgggatcccaatgat
atgtttcgatataatgaagaaaattatggtgtagtgtctacgtatgatagcagtttatct
tcgtatacagtgcccttagaaagagataactcagaagaatttttaaaacgggaagcaagg
gcaaaccagttagcagaagaaattgagtcaagtgcccagtacaaagctcgagtggccctg
gaaaatgatgataggagtgaggaagaaaaatacacagcagttcagagaaattccagtgaa
cgtgaggggcacagcataaacactagggaaaataaatatattcctcctggacaaagaaat
agagaagtcatatcctggggaagtgggagacagaattcaccgcgtatgggccagcctgga
tcgggctccatgccatcaagatccacttctcacacttcagatttcaacccgaattctggt
tcagaccaaagagtagttaatggaggtgttccctggccatcgccttgcccatctccttcc
tctcgcccaccttctcgctaccagtcaggtcccaactctcttccacctcgggcagccacc
cctacacggccgccctccaggcccccctcgcggccatccagacccccgtctcacccctct
gctcatggttctccagctcctgtctctactatgcctaaacgcatgtcttcagaagggcct
ccaaggatgtccccaaaggcccagcgacatcctcgaaatcacagagtttctgctgggagg
ggttccatatccagtggcctagaatttgtatcccacaacccacccagtgaagcagctact
cctccagtagcaaggaccagtccctcggggggaacgtggtcatcagtggtcagtggggtt
ccaagattatcccctaaaactcatagacccaggtctcccagacagaacagtattggaaat
acccccagtgggccagttcttgcttctccccaagctggtattattccaactgaagctgtt
gccatgcctattccagctgcatctcctacgcctgctagtcctgcatcgaacagagctgtt
accccttctagtgaggctaaagattccaggcttcaagatcagaggcagaactctcctgca
gggaataaagaaaatattaaacccaatgaaacatcacctagcttctcaaaagctgaaaac
aaaggtatatcaccagttgtttctgaacatagaaaacagattgatgatttaaagaaattt
aagaatgattttaggttacagccaagttctacttctgaatctatggatcaactactaaac
aaaaatagagagggagaaaaatcaagagatttgatcaaagacaaaattgaaccaagtgct
aaggattctttcattgaaaatagcagcagcaactgtaccagtggcagcagcaagccgaat
agccccagcatttccccttcaatacttagtaacacggagcacaagaggggacctgaggtc
acttcccaaggggttcagacttccagcccagcatgtaaacaagagaaagacgataaggaa
gagaagaaagacgcagctgagcaagttaggaaatcaacattgaatcccaatgcaaaggag
ttcaacccacgttccttctctcagccaaagccttctactaccccaacttcacctcggcct
caagcacaacctagcccatctatggtgggtcatcaacagccaactccagtttatactcag
cctgtttgttttgcaccaaatatgatgtatccagtcccagtgagcccaggcgtgcaacct
ttatacccaatacctatgacgcccatgccagtgaatcaagccaagacatatagagcagta
ccaaatatgccccaacagcggcaagaccagcatcatcagagtgccatgatgcacccagcg
tcagcagcgggcccaccgattgcagccaccccaccagcttactccacgcaatatgttgcc
tacagtcctcagcagttcccaaatcagccccttgttcagcatgtgccacattatcagtct
cagcatcctcatgtctatagtcctgtaatacagggtaatgctagaatgatggcaccacca
acacacgcccagcctggtttagtatcttcttcagcaactcagtacggggctcatgagcag
acgcatgcgatgtatgcatgtcccaaattaccatacaacaaggagacaagcccttctttc
tactttgccatttccacgggctcccttgctcagcagtatgcgcaccctaacgctaccctg
cacccacatactccacaccctcagccttcagctacccccactggacagcagcaaagccaa
catggtggaagtcatcctgcacccagtcctgttcagcaccatcagcaccaggccgcccag
gctctccatctggccagtccacagcagcagtcagccatttaccacgcggggcttgcgcca
actccaccctccatgacacctgcctccaacacgcagtcgccacagaatagtttcccagca
gcacaacagactgtctttacgatccatccttctcacgttcagccggcgtataccaaccca
ccccacatggcccacgtacctcaggctcatgtacagtcaggaatggttccttctcatcca
actgcccatgcgccaatgatgctaatgacgacacagccacccggcggtccccaggccgcc
ctcgctcaaagtgcactacagcccattccagtctcgacaacagcgcatttcccctatatg
acgcacccttcagtacaagcccaccaccaacagcagttgtaa
DBGET
integrated database retrieval system
