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Q99700

- ATX2_HUMAN

UniProt

Q99700 - ATX2_HUMAN

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Protein

Ataxin-2

Gene

ATXN2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Involved in EGFR trafficking, acting as negative regulator of endocytic EGFR internalization at the plasma membrane.1 Publication

GO - Molecular functioni

  1. epidermal growth factor receptor binding Source: UniProtKB
  2. poly(A) RNA binding Source: UniProtKB
  3. protein C-terminus binding Source: UniProtKB
  4. RNA binding Source: UniProtKB

GO - Biological processi

  1. cell death Source: UniProtKB-KW
  2. cerebellar Purkinje cell differentiation Source: Ensembl
  3. cytoplasmic mRNA processing body assembly Source: UniProtKB
  4. homeostasis of number of cells Source: Ensembl
  5. negative regulation of multicellular organism growth Source: Ensembl
  6. negative regulation of receptor internalization Source: UniProtKB
  7. neuromuscular process Source: Ensembl
  8. neuron projection morphogenesis Source: Ensembl
  9. regulation of translation Source: UniProtKB
  10. RNA metabolic process Source: UniProtKB
  11. RNA transport Source: UniProtKB
  12. stress granule assembly Source: UniProtKB
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Ataxin-2
Alternative name(s):
Spinocerebellar ataxia type 2 protein
Trinucleotide repeat-containing gene 13 protein
Gene namesi
Name:ATXN2
Synonyms:ATX2, SCA2, TNRC13
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:10555. ATXN2.

Subcellular locationi

Cytoplasm By similarity

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
  2. cytoplasmic stress granule Source: UniProtKB
  3. Golgi apparatus Source: UniProtKB
  4. membrane Source: UniProtKB
  5. nucleus Source: HPA
  6. perinuclear region of cytoplasm Source: UniProtKB
  7. polysome Source: UniProtKB
  8. ribonucleoprotein complex Source: UniProtKB
  9. trans-Golgi network Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Spinocerebellar ataxia 2 (SCA2) [MIM:183090]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to cerebellum degeneration with variable involvement of the brainstem and spinal cord. SCA2 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA2 is characterized by hyporeflexia, myoclonus and action tremor and dopamine-responsive parkinsonism. In some patients, SCA2 presents as pure familial parkinsonism without cerebellar signs.3 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry. SCA2 is caused by expansion of a CAG repeat resulting in about 36 to 52 repeats in some patients. Longer expansions result in earlier the expansion, onset of the disease.
Amyotrophic lateral sclerosis 13 (ALS13) [MIM:183090]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.1 Publication
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. An increased risk for developing amyotrophic lateral sclerosis seems to be conferred by CAG repeat intermediate expansions greater than 23 but below the threshold for developing spinocerebellar ataxia.

Keywords - Diseasei

Amyotrophic lateral sclerosis, Neurodegeneration, Parkinsonism, Spinocerebellar ataxia

Organism-specific databases

MIMi183090. phenotype.
Orphaneti803. Amyotrophic lateral sclerosis.
98756. Spinocerebellar ataxia type 2.
PharmGKBiPA34968.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 13131313Ataxin-2PRO_0000064756Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei393 – 3931Phosphoserine1 Publication
Modified residuei466 – 4661Phosphoserine1 Publication
Modified residuei554 – 5541Phosphoserine1 Publication
Modified residuei684 – 6841Phosphoserine3 Publications
Modified residuei741 – 7411Phosphothreonine1 Publication
Modified residuei784 – 7841Phosphoserine3 Publications
Modified residuei857 – 8571Phosphoserine1 Publication
Modified residuei861 – 8611Phosphoserine2 Publications
Modified residuei865 – 8651Phosphoserine1 Publication
Modified residuei888 – 8881Phosphoserine1 Publication
Modified residuei889 – 8891Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ99700.
PaxDbiQ99700.
PRIDEiQ99700.

PTM databases

PhosphoSiteiQ99700.

Expressioni

Tissue specificityi

Expressed in the brain, heart, liver, skeletal muscle, pancreas and placenta. Isoform 1 is predominant in the brain and spinal cord. Isoform 4 is more abundant in the cerebellum. In the brain, broadly expressed in the amygdala, caudate nucleus, corpus callosum, hippocampus, hypothalamus, substantia nigra, subthalamic nucleus and thalamus.4 Publications

Gene expression databases

BgeeiQ99700.
CleanExiHS_ATXN2.
ExpressionAtlasiQ99700. baseline.
GenevestigatoriQ99700.

Organism-specific databases

HPAiHPA018295.
HPA020339.
HPA021146.

Interactioni

Subunit structurei

Monomer (By similarity). Can also form homodimers (By similarity). Interacts with TARDBP; the interaction is RNA-dependent. Interacts with RBFOX1. Interacts with polyribosomes. Interacts with SH3GL2 and SH3GL3. Interacts with SH3KBP1 and CBL (By similarity). Interacts with EGFR.By similarity4 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
ATXN1P542534EBI-697691,EBI-930964
DDX6P261967EBI-697691,EBI-351257
G3BP1Q132834EBI-697691,EBI-1047359
PABPC1P119406EBI-697691,EBI-81531
SH3GL2Q999629EBI-697691,EBI-77938
SH3GL3Q9996311EBI-697691,EBI-473910

Protein-protein interaction databases

BioGridi112218. 44 interactions.
DIPiDIP-33372N.
IntActiQ99700. 25 interactions.
MINTiMINT-1414788.
STRINGi9606.ENSP00000366843.

Structurei

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
3KTRX-ray1.70B912-928[»]
ProteinModelPortaliQ99700.
SMRiQ99700. Positions 273-344.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ99700.

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi47 – 158112Pro-richAdd
BLAST
Compositional biasi55 – 6410Poly-Pro
Compositional biasi166 – 18722Poly-GlnAdd
BLAST
Compositional biasi213 – 22311Poly-SerAdd
BLAST
Compositional biasi551 – 734184Pro-richAdd
BLAST
Compositional biasi929 – 1085157Pro-richAdd
BLAST

Sequence similaritiesi

Belongs to the ataxin-2 family.Curated

Phylogenomic databases

eggNOGiNOG268173.
GeneTreeiENSGT00530000063565.
HOGENOMiHOG000234354.
HOVERGENiHBG050623.
InParanoidiQ99700.
OMAiSNTEHKR.
PhylomeDBiQ99700.
TreeFamiTF326591.

Family and domain databases

InterProiIPR009818. Ataxin-2_C.
IPR010920. LSM_dom.
IPR009604. LsmAD_domain.
IPR025852. SM_dom_ATX.
[Graphical view]
PfamiPF06741. LsmAD. 1 hit.
PF07145. PAM2. 1 hit.
PF14438. SM-ATX. 1 hit.
[Graphical view]
SUPFAMiSSF50182. SSF50182. 1 hit.

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q99700-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MRSAAAAPRS PAVATESRRF AAARWPGWRS LQRPARRSGR GGGGAAPGPY
60 70 80 90 100
PSAAPPPPGP GPPPSRQSSP PSASDCFGSN GNGGGAFRPG SRRLLGLGGP
110 120 130 140 150
PRPFVVLLLP LASPGAPPAA PTRASPLGAR ASPPRSGVSL ARPAPGCPRP
160 170 180 190 200
ACEPVYGPLT MSLKPQQQQQ QQQQQQQQQQ QQQQQQQQPP PAAANVRKPG
210 220 230 240 250
GSGLLASPAA APSPSSSSVS SSSATAPSSV VAATSGGGRP GLGRGRNSNK
260 270 280 290 300
GLPQSTISFD GIYANMRMVH ILTSVVGSKC EVQVKNGGIY EGVFKTYSPK
310 320 330 340 350
CDLVLDAAHE KSTESSSGPK REEIMESILF KCSDFVVVQF KDMDSSYAKR
360 370 380 390 400
DAFTDSAISA KVNGEHKEKD LEPWDAGELT ANEELEALEN DVSNGWDPND
410 420 430 440 450
MFRYNEENYG VVSTYDSSLS SYTVPLERDN SEEFLKREAR ANQLAEEIES
460 470 480 490 500
SAQYKARVAL ENDDRSEEEK YTAVQRNSSE REGHSINTRE NKYIPPGQRN
510 520 530 540 550
REVISWGSGR QNSPRMGQPG SGSMPSRSTS HTSDFNPNSG SDQRVVNGGV
560 570 580 590 600
PWPSPCPSPS SRPPSRYQSG PNSLPPRAAT PTRPPSRPPS RPSRPPSHPS
610 620 630 640 650
AHGSPAPVST MPKRMSSEGP PRMSPKAQRH PRNHRVSAGR GSISSGLEFV
660 670 680 690 700
SHNPPSEAAT PPVARTSPSG GTWSSVVSGV PRLSPKTHRP RSPRQNSIGN
710 720 730 740 750
TPSGPVLASP QAGIIPTEAV AMPIPAASPT PASPASNRAV TPSSEAKDSR
760 770 780 790 800
LQDQRQNSPA GNKENIKPNE TSPSFSKAEN KGISPVVSEH RKQIDDLKKF
810 820 830 840 850
KNDFRLQPSS TSESMDQLLN KNREGEKSRD LIKDKIEPSA KDSFIENSSS
860 870 880 890 900
NCTSGSSKPN SPSISPSILS NTEHKRGPEV TSQGVQTSSP ACKQEKDDKE
910 920 930 940 950
EKKDAAEQVR KSTLNPNAKE FNPRSFSQPK PSTTPTSPRP QAQPSPSMVG
960 970 980 990 1000
HQQPTPVYTQ PVCFAPNMMY PVPVSPGVQP LYPIPMTPMP VNQAKTYRAV
1010 1020 1030 1040 1050
PNMPQQRQDQ HHQSAMMHPA SAAGPPIAAT PPAYSTQYVA YSPQQFPNQP
1060 1070 1080 1090 1100
LVQHVPHYQS QHPHVYSPVI QGNARMMAPP THAQPGLVSS SATQYGAHEQ
1110 1120 1130 1140 1150
THAMYACPKL PYNKETSPSF YFAISTGSLA QQYAHPNATL HPHTPHPQPS
1160 1170 1180 1190 1200
ATPTGQQQSQ HGGSHPAPSP VQHHQHQAAQ ALHLASPQQQ SAIYHAGLAP
1210 1220 1230 1240 1250
TPPSMTPASN TQSPQNSFPA AQQTVFTIHP SHVQPAYTNP PHMAHVPQAH
1260 1270 1280 1290 1300
VQSGMVPSHP TAHAPMMLMT TQPPGGPQAA LAQSALQPIP VSTTAHFPYM
1310
THPSVQAHHQ QQL
Length:1,313
Mass (Da):140,283
Last modified:November 25, 2008 - v2
Checksum:i40A2883FF9D5D118
GO
Isoform 2 (identifier: Q99700-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     980-995: PLYPIPMTPMPVNQAK → YQICPNSGKTSIIRVP
     996-1313: Missing.

Note: No experimental confirmation available.

Show »
Length:995
Mass (Da):106,048
Checksum:i91213B54F413FF7B
GO
Isoform 3 (identifier: Q99700-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-981: Missing.
     982-998: YPIPMTPMPVNQAKTYR → MYYAVEILFNRQSAFFS
     1106-1123: Missing.
     1124-1124: I → V
     1249-1257: AHVQSGMVP → VIPALANFL
     1258-1313: Missing.

Note: No experimental confirmation available.

Show »
Length:258
Mass (Da):27,894
Checksum:iE361B49F7A135F23
GO
Isoform 4 (identifier: Q99700-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1244-1313: Missing.

Show »
Length:1,243
Mass (Da):132,884
Checksum:i7D9C99E5F3CEC8CB
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti188 – 1881Missing in AAB19200. (PubMed:8896555)Curated
Sequence conflicti188 – 1881Missing in CAA69589. (PubMed:8896557)Curated

Polymorphismi

The poly-Gln region of ATXN2 is polymorphic: 17 to 29 repeats are found in the normal population. Higher numbers of repeats result in different disease phenotypes depending on the length of the expansion.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti107 – 1071L → V.2 Publications
Corresponds to variant rs695871 [ dbSNP | Ensembl ].
VAR_047629
Natural varianti248 – 2481S → N.
Corresponds to variant rs7969300 [ dbSNP | Ensembl ].
VAR_047630

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 981981Missing in isoform 3. 1 PublicationVSP_011574Add
BLAST
Alternative sequencei980 – 99516PLYPI…VNQAK → YQICPNSGKTSIIRVP in isoform 2. 1 PublicationVSP_011575Add
BLAST
Alternative sequencei982 – 99817YPIPM…AKTYR → MYYAVEILFNRQSAFFS in isoform 3. 1 PublicationVSP_011576Add
BLAST
Alternative sequencei996 – 1313318Missing in isoform 2. 1 PublicationVSP_011577Add
BLAST
Alternative sequencei1106 – 112318Missing in isoform 3. 1 PublicationVSP_011578Add
BLAST
Alternative sequencei1124 – 11241I → V in isoform 3. 1 PublicationVSP_011579
Alternative sequencei1244 – 131370Missing in isoform 4. CuratedVSP_011582Add
BLAST
Alternative sequencei1249 – 12579AHVQSGMVP → VIPALANFL in isoform 3. 1 PublicationVSP_011580
Alternative sequencei1258 – 131356Missing in isoform 3. 1 PublicationVSP_011581Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U70323 mRNA. Translation: AAB19200.1.
AK128613 mRNA. Translation: BAC87528.1.
AC002395 Genomic DNA. No translation available.
Y08262 mRNA. Translation: CAA69589.1.
CCDSiCCDS31902.1. [Q99700-1]
RefSeqiNP_002964.3. NM_002973.3. [Q99700-1]
UniGeneiHs.76253.

Genome annotation databases

EnsembliENST00000377617; ENSP00000366843; ENSG00000204842. [Q99700-1]
ENST00000550104; ENSP00000446576; ENSG00000204842. [Q99700-1]
GeneIDi6311.
KEGGihsa:6311.
UCSCiuc001tsj.3. human. [Q99700-1]
uc001tsl.1. human. [Q99700-3]

Polymorphism databases

DMDMi215273941.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism, Triplet repeat expansion

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U70323 mRNA. Translation: AAB19200.1 .
AK128613 mRNA. Translation: BAC87528.1 .
AC002395 Genomic DNA. No translation available.
Y08262 mRNA. Translation: CAA69589.1 .
CCDSi CCDS31902.1. [Q99700-1 ]
RefSeqi NP_002964.3. NM_002973.3. [Q99700-1 ]
UniGenei Hs.76253.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
3KTR X-ray 1.70 B 912-928 [» ]
ProteinModelPortali Q99700.
SMRi Q99700. Positions 273-344.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112218. 44 interactions.
DIPi DIP-33372N.
IntActi Q99700. 25 interactions.
MINTi MINT-1414788.
STRINGi 9606.ENSP00000366843.

Chemistry

ChEMBLi CHEMBL1795085.

PTM databases

PhosphoSitei Q99700.

Polymorphism databases

DMDMi 215273941.

Proteomic databases

MaxQBi Q99700.
PaxDbi Q99700.
PRIDEi Q99700.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000377617 ; ENSP00000366843 ; ENSG00000204842 . [Q99700-1 ]
ENST00000550104 ; ENSP00000446576 ; ENSG00000204842 . [Q99700-1 ]
GeneIDi 6311.
KEGGi hsa:6311.
UCSCi uc001tsj.3. human. [Q99700-1 ]
uc001tsl.1. human. [Q99700-3 ]

Organism-specific databases

CTDi 6311.
GeneCardsi GC12M111890.
GeneReviewsi ATXN2.
HGNCi HGNC:10555. ATXN2.
HPAi HPA018295.
HPA020339.
HPA021146.
MIMi 183090. phenotype.
601517. gene.
neXtProti NX_Q99700.
Orphaneti 803. Amyotrophic lateral sclerosis.
98756. Spinocerebellar ataxia type 2.
PharmGKBi PA34968.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG268173.
GeneTreei ENSGT00530000063565.
HOGENOMi HOG000234354.
HOVERGENi HBG050623.
InParanoidi Q99700.
OMAi SNTEHKR.
PhylomeDBi Q99700.
TreeFami TF326591.

Miscellaneous databases

ChiTaRSi ATXN2. human.
EvolutionaryTracei Q99700.
GeneWikii ATXN2.
GenomeRNAii 6311.
NextBioi 24501.
PROi Q99700.
SOURCEi Search...

Gene expression databases

Bgeei Q99700.
CleanExi HS_ATXN2.
ExpressionAtlasi Q99700. baseline.
Genevestigatori Q99700.

Family and domain databases

InterProi IPR009818. Ataxin-2_C.
IPR010920. LSM_dom.
IPR009604. LsmAD_domain.
IPR025852. SM_dom_ATX.
[Graphical view ]
Pfami PF06741. LsmAD. 1 hit.
PF07145. PAM2. 1 hit.
PF14438. SM-ATX. 1 hit.
[Graphical view ]
SUPFAMi SSF50182. SSF50182. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), POLYMORPHISM, INVOLVEMENT IN SCA2, TISSUE SPECIFICITY, VARIANT VAL-107.
  2. "Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT."
    Sanpei K., Takano H., Igarashi S., Sato T., Oyake M., Sasaki H., Wakisaka A., Tashiro K., Ishida Y., Ikeuchi T., Koide R., Saito M., Sato A., Tanaka T., Hanyu S., Takiyama Y., Nishizawa M., Shimizu N.
    , Nomura Y., Segawa M., Iwabuchi K., Eguchi I., Tanaka H., Takahashi H., Tsuji S.
    Nat. Genet. 14:277-284(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), POLYMORPHISM, INVOLVEMENT IN SCA2, TISSUE SPECIFICITY.
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
    Tissue: Trachea.
  4. "The finished DNA sequence of human chromosome 12."
    Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
    , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
    Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats."
    Imbert G., Saudou F., Yvert G., Devys D., Trottier Y., Garnier J.-M., Weber C., Mandel J.-L., Cancel G., Abbas N., Duerr A., Didierjean O., Stevanin G., Agid Y., Brice A.
    Nat. Genet. 14:285-291(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 81-1313 (ISOFORM 2), POLYMORPHISM, INVOLVEMENT IN SCA2, TISSUE SPECIFICITY, VARIANT VAL-107.
  6. "Genomic structure of the human gene for spinocerebellar ataxia type 2 (SCA2) on chromosome 12q24.1."
    Sahba S., Nechiporuk A., Figueroa K.P., Nechiporuk T., Pulst S.-M.
    Genomics 47:359-364(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: ALTERNATIVE SPLICING, TISSUE SPECIFICITY.
  7. "A novel protein with RNA-binding motifs interacts with ataxin-2."
    Shibata H., Huynh D.P., Pulst S.-M.
    Hum. Mol. Genet. 9:1303-1313(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH RBFOX1.
  8. "Ataxin-2 and its Drosophila homolog, ATX2, physically assemble with polyribosomes."
    Satterfield T.F., Pallanck L.J.
    Hum. Mol. Genet. 15:2523-2532(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH POLYRIBOSOMES.
  9. "A probability-based approach for high-throughput protein phosphorylation analysis and site localization."
    Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P.
    Nat. Biotechnol. 24:1285-1292(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  10. "Ataxin-2 associates with the endocytosis complex and affects EGF receptor trafficking."
    Nonis D., Schmidt M.H., van de Loo S., Eich F., Dikic I., Nowock J., Auburger G.
    Cell. Signal. 20:1725-1739(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH EGFR; SH3GL2 AND SH3GL3.
  11. "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis."
    Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III
    J. Proteome Res. 7:1346-1351(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-784, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  12. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-466; SER-554; SER-684; THR-741; SER-857; SER-861; SER-888 AND SER-889, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  13. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  14. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-684, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  15. Cited for: INTERACTION WITH TARDBP, INVOLVEMENT IN ALS13, POLY-GLN REPEAT EXPANSION.
  16. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-393; SER-684 AND SER-784, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  17. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  18. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-784; SER-861 AND SER-865, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiATX2_HUMAN
AccessioniPrimary (citable) accession number: Q99700
Secondary accession number(s): A6NLD4, Q6ZQZ7, Q99493
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 13, 2004
Last sequence update: November 25, 2008
Last modified: October 29, 2014
This is version 130 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3