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O15020

- SPTN2_HUMAN

UniProt

O15020 - SPTN2_HUMAN

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Protein
Spectrin beta chain, non-erythrocytic 2
Gene
SPTBN2, KIAA0302, SCA5
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Probably plays an important role in neuronal membrane skeleton.

GO - Molecular functioni

  1. actin binding Source: ProtInc
  2. phospholipid binding Source: InterPro
  3. structural constituent of cytoskeleton Source: UniProtKB

GO - Biological processi

  1. actin filament capping Source: UniProtKB-KW
  2. adult behavior Source: Ensembl
  3. antigen processing and presentation of exogenous peptide antigen via MHC class II Source: Reactome
  4. axon guidance Source: Reactome
  5. cell death Source: UniProtKB-KW
  6. cerebellar Purkinje cell layer morphogenesis Source: Ensembl
  7. multicellular organism growth Source: Ensembl
  8. synapse assembly Source: Ensembl
  9. vesicle-mediated transport Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Actin capping

Keywords - Ligandi

Actin-binding

Enzyme and pathway databases

ReactomeiREACT_121399. MHC class II antigen presentation.
REACT_18334. NCAM signaling for neurite out-growth.
REACT_22266. Interaction between L1 and Ankyrins.

Names & Taxonomyi

Protein namesi
Recommended name:
Spectrin beta chain, non-erythrocytic 2
Alternative name(s):
Beta-III spectrin
Spinocerebellar ataxia 5 protein
Gene namesi
Name:SPTBN2
Synonyms:KIAA0302, SCA5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:11276. SPTBN2.

Subcellular locationi

GO - Cellular componenti

  1. cytosol Source: Reactome
  2. extracellular space Source: UniProt
  3. neuronal cell body Source: Ensembl
  4. spectrin Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Spinocerebellar ataxia 5 (SCA5) [MIM:600224]: 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 degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA5 is an autosomal dominant cerebellar ataxia (ADCA). It is a slowly progressive disorder with variable age at onset, ranging between 10 and 50 years.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti253 – 2531L → P in SCA5. 1 Publication
VAR_026767
Natural varianti480 – 4801R → W in SCA5. 1 Publication
VAR_070232
Natural varianti532 – 54413Missing in SCA5.
VAR_026768Add
BLAST
Natural varianti629 – 6346LAAARR → W in SCA5.
VAR_026769
Spinocerebellar ataxia, autosomal recessive, 14 (SCAR14) [MIM:615386]: 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 degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR14 is characterized by delayed psychomotor development, severe early onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disability.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications

Keywords - Diseasei

Disease mutation, Neurodegeneration, Spinocerebellar ataxia

Organism-specific databases

MIMi600224. phenotype.
615386. phenotype.
Orphaneti352403. Spectrin-associated autosomal recessive cerebellar ataxia.
98766. Spinocerebellar ataxia type 5.
PharmGKBiPA36105.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed1 Publication
Chaini2 – 23902389Spectrin beta chain, non-erythrocytic 2
PRO_0000073463Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylserine1 Publication
Modified residuei2171 – 21711Phosphoserine4 Publications
Modified residuei2359 – 23591Phosphoserine2 Publications

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

MaxQBiO15020.
PaxDbiO15020.
PRIDEiO15020.

PTM databases

PhosphoSiteiO15020.

Expressioni

Tissue specificityi

Highly expressed in brain, kidney, pancreas, and liver, and at lower levels in lung and placenta.

Gene expression databases

ArrayExpressiO15020.
BgeeiO15020.
CleanExiHS_SPTBN2.
GenevestigatoriO15020.

Organism-specific databases

HPAiCAB009844.

Interactioni

Protein-protein interaction databases

BioGridi112590. 8 interactions.
DIPiDIP-47270N.
IntActiO15020. 6 interactions.
STRINGi9606.ENSP00000311489.

Structurei

Secondary structure

Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi180 – 19112
Beta strandi193 – 1953
Beta strandi205 – 2084
Helixi209 – 21810
Turni220 – 2223
Turni225 – 2273
Helixi234 – 24613
Turni256 – 2583
Beta strandi261 – 2633
Helixi266 – 28217
Beta strandi283 – 2853
Beta strandi2221 – 223313
Beta strandi2244 – 22518
Beta strandi2254 – 22607
Helixi2261 – 22644
Turni2265 – 22673
Beta strandi2269 – 22724
Beta strandi2282 – 22854
Beta strandi2293 – 22997
Beta strandi2301 – 23033
Beta strandi2305 – 23095
Helixi2313 – 232816

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1WJMNMR-A2219-2328[»]
1WYQNMR-A178-291[»]
ProteinModelPortaliO15020.
SMRiO15020. Positions 51-291, 302-2084, 2212-2333.

Miscellaneous databases

EvolutionaryTraceiO15020.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini2 – 278277Actin-binding
Add
BLAST
Domaini57 – 161105CH 1
Add
BLAST
Domaini176 – 278103CH 2
Add
BLAST
Repeati305 – 415111Spectrin 1
Add
BLAST
Repeati425 – 529105Spectrin 2
Add
BLAST
Repeati531 – 639109Spectrin 3
Add
BLAST
Repeati641 – 745105Spectrin 4
Add
BLAST
Repeati747 – 850104Spectrin 5
Add
BLAST
Repeati852 – 956105Spectrin 6
Add
BLAST
Repeati958 – 1063106Spectrin 7
Add
BLAST
Repeati1065 – 1170106Spectrin 8
Add
BLAST
Repeati1172 – 1276105Spectrin 9
Add
BLAST
Repeati1278 – 1381104Spectrin 10
Add
BLAST
Repeati1383 – 1486104Spectrin 11
Add
BLAST
Repeati1488 – 158699Spectrin 12
Add
BLAST
Repeati1588 – 1692105Spectrin 13
Add
BLAST
Repeati1694 – 1799106Spectrin 14
Add
BLAST
Repeati1801 – 1905105Spectrin 15
Add
BLAST
Repeati1907 – 2011105Spectrin 16
Add
BLAST
Repeati2013 – 207563Spectrin 17
Add
BLAST
Domaini2218 – 2328111PH
Add
BLAST

Sequence similaritiesi

Belongs to the spectrin family.
Contains 1 PH domain.
Contains 17 spectrin repeats.

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiCOG5069.
HOGENOMiHOG000007281.
HOVERGENiHBG057912.
InParanoidiO15020.
KOiK06115.
OMAiIQGQYSD.
OrthoDBiEOG73RB9J.
PhylomeDBiO15020.
TreeFamiTF313446.

Family and domain databases

Gene3Di1.10.418.10. 2 hits.
2.30.29.30. 1 hit.
InterProiIPR001589. Actinin_actin-bd_CS.
IPR001715. CH-domain.
IPR001605. PH_dom-spectrin-type.
IPR001849. PH_domain.
IPR011993. PH_like_dom.
IPR018159. Spectrin/alpha-actinin.
IPR016343. Spectrin_bsu.
IPR002017. Spectrin_repeat.
[Graphical view]
PfamiPF00307. CH. 2 hits.
PF00435. Spectrin. 17 hits.
[Graphical view]
PIRSFiPIRSF002297. Spectrin_beta_subunit. 1 hit.
PRINTSiPR00683. SPECTRINPH.
SMARTiSM00033. CH. 2 hits.
SM00233. PH. 1 hit.
SM00150. SPEC. 17 hits.
[Graphical view]
SUPFAMiSSF47576. SSF47576. 1 hit.
PROSITEiPS00019. ACTININ_1. 1 hit.
PS00020. ACTININ_2. 1 hit.
PS50021. CH. 2 hits.
PS50003. PH_DOMAIN. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: O15020-1) [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

MSSTLSPTDF DSLEIQGQYS DINNRWDLPD SDWDNDSSSA RLFERSRIKA     50
LADEREAVQK KTFTKWVNSH LARVTCRVGD LYSDLRDGRN LLRLLEVLSG 100
EILPKPTKGR MRIHCLENVD KALQFLKEQK VHLENMGSHD IVDGNHRLTL 150
GLVWTIILRF QIQDISVETE DNKEKKSAKD ALLLWCQMKT AGYPNVNVHN 200
FTTSWRDGLA FNAIVHKHRP DLLDFESLKK CNAHYNLQNA FNLAEKELGL 250
TKLLDPEDVN VDQPDEKSII TYVATYYHYF SKMKALAVEG KRIGKVLDHA 300
MEAERLVEKY ESLASELLQW IEQTIVTLND RQLANSLSGV QNQLQSFNSY 350
RTVEKPPKFT EKGNLEVLLF TIQSKLRANN QKVYTPREGR LISDINKAWE 400
RLEKAEHERE LALRTELIRQ EKLEQLAARF DRKAAMRETW LSENQRLVSQ 450
DNFGLELAAV EAAVRKHEAI ETDIVAYSGR VQAVDAVAAE LAAERYHDIK 500
RIAARQHNVA RLWDFLRQMV AARRERLLLN LELQKVFQDL LYLMDWMEEM 550
KGRLQSQDLG RHLAGVEDLL QLHELVEADI AVQAERVRAV SASALRFCNP 600
GKEYRPCDPQ LVSERVAKLE QSYEALCELA AARRARLEES RRLWRFLWEV 650
GEAEAWVREQ QHLLASADTG RDLTGALRLL NKHTALRGEM SGRLGPLKLT 700
LEQGQQLVAE GHPGASQASA RAAELQAQWE RLEALAEERA QRLAQAASLY 750
QFQADANDME AWLVDALRLV SSPELGHDEF STQALARQHR ALEEEIRSHR 800
PTLDALREQA AALPPTLSRT PEVQSRVPTL ERHYEELQAR AGERARALEA 850
ALALYTMLSE AGACGLWVEE KEQWLNGLAL PERLEDLEVV QQRFETLEPE 900
MNTLAAQITA VNDIAEQLLK ANPPGKDRIV NTQEQLNHRW QQFRRLADGK 950
KAALTSALSI QNYHLECTET QAWMREKTKV IESTQGLGND LAGVLALQRK 1000
LAGTERDLEA IAARVGELTR EANALAAGHP AQAVAINARL REVQTGWEDL 1050
RATMRRREES LGEARRLQDF LRSLDDFQAW LGRTQTAVAS EEGPATLPEA 1100
EALLAQHAAL RGEVERAQSE YSRLRALGEE VTRDQADPQC LFLRQRLEAL 1150
GTGWEELGRM WESRQGRLAQ AHGFQGFLRD ARQAEGVLSS QEYVLSHTEM 1200
PGTLQAADAA IKKLEDFMST MDANGERIHG LLEAGRQLVS EGNIHADKIR 1250
EKADSIERRH KKNQDAAQQF LGRLRDNREQ QHFLQDCHEL KLWIDEKMLT 1300
AQDVSYDEAR NLHTKWQKHQ AFMAELAANK DWLDKVDKEG RELTLEKPEL 1350
KALVSEKLRD LHRRWDELET TTQAKARSLF DANRAELFAQ SCCALESWLE 1400
SLQAQLHSDD YGKDLTSVNI LLKKQQMLEW EMAVREKEVE AIQAQAKALA 1450
QEDQGAGEVE RTSRAVEEKF RALCQPMRER CRRLQASREQ HQFHRDVEDE 1500
ILWVTERLPM ASSMEHGKDL PSVQLLMKKN QTLQKEIQGH EPRIADLRER 1550
QRALGAAAAG PELAELQEMW KRLGHELELR GKRLEDALRA QQFYRDAAEA 1600
EAWMGEQELH MMGQEKAKDE LSAQAEVKKH QVLEQALADY AQTIHQLAAS 1650
SQDMIDHEHP ESTRISIRQA QVDKLYAGLK ELAGERRERL QEHLRLCQLR 1700
RELDDLEQWI QEREVVAASH ELGQDYEHVT MLRDKFREFS RDTSTIGQER 1750
VDSANALANG LIAGGHAARA TVAEWKDSLN EAWADLLELL DTRGQVLAAA 1800
YELQRFLHGA RQALARVQHK QQQLPDGTGR DLNAAEALQR RHCAYEHDIQ 1850
ALSPQVQQVQ DDGHRLQKAY AGDKAEEIGR HMQAVAEAWA QLQGSSAARR 1900
QLLLDTTDKF RFFKAVRELM LWMDEVNLQM DAQERPRDVS SADLVIKNQQ 1950
GIKAEIEARA DRFSSCIDMG KELLARSHYA AEEISEKLSQ LQARRQETAE 2000
KWQEKMDWLQ LVLEVLVFGR DAGMAEAWLC SQEPLVRSAE LGCTVDEVES 2050
LIKRHEAFQK SAVAWEERFC ALEKLTALEE REKERKRKRE EEERRKQPPA 2100
PEPTASVPPG DLVGGQTASD TTWDGTQPRP PPSTQAPSVN GVCTDGEPSQ 2150
PLLGQQRLEH SSFPEGPGPG SGDEANGPRG ERQTRTRGPA PSAMPQSRST 2200
ESAHAATLPP RGPEPSAQEQ MEGMLCRKQE MEAFGKKAAN RSWQNVYCVL 2250
RRGSLGFYKD AKAASAGVPY HGEVPVSLAR AQGSVAFDYR KRKHVFKLGL 2300
QDGKEYLFQA KDEAEMSSWL RVVNAAIATA SSASGEPEEP VVPSTTRGMT 2350
RAMTMPPVSP VGAEGPVVLR SKDGRERERE KRFSFFKKNK 2390
Length:2,390
Mass (Da):271,325
Last modified:October 5, 2010 - v3
Checksum:i1CC523CC6493DBFE
GO
Isoform 2 (identifier: O15020-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     2314-2390: AEMSSWLRVV...KRFSFFKKNK → VSCPSCSSLS...RRPHQAALPV

Show »
Length:2,365
Mass (Da):268,309
Checksum:i3C60F49E525BEC79
GO

Sequence cautioni

The sequence BAA32700.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti253 – 2531L → P in SCA5. 1 Publication
VAR_026767
Natural varianti480 – 4801R → W in SCA5. 1 Publication
VAR_070232
Natural varianti532 – 54413Missing in SCA5.
VAR_026768Add
BLAST
Natural varianti629 – 6346LAAARR → W in SCA5.
VAR_026769
Natural varianti774 – 7741E → K in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_035458
Natural varianti825 – 8251S → G.1 Publication
Corresponds to variant rs4930388 [ dbSNP | Ensembl ].
VAR_026770
Natural varianti835 – 8351E → K.
Corresponds to variant rs36054877 [ dbSNP | Ensembl ].
VAR_048631
Natural varianti1034 – 10341V → A.
Corresponds to variant rs506028 [ dbSNP | Ensembl ].
VAR_026771

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei2314 – 239077AEMSS…FKKNK → VSCPSCSSLSVPFQKLPAAD SPSFPVLPLFPGLVLCGKTG CVRRPHQAALPV in isoform 2.
VSP_000722Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB008567 mRNA. Translation: BAA32700.2. Different initiation.
AP001157 Genomic DNA. No translation available.
AF079569 mRNA. Translation: AAC80006.1.
AF026487 mRNA. Translation: AAC79502.1.
AF026488 mRNA. Translation: AAC79503.1.
AF026488 mRNA. Translation: AAC79504.1.
CCDSiCCDS8150.1. [O15020-1]
RefSeqiNP_008877.1. NM_006946.2.
XP_005274249.1. XM_005274192.2. [O15020-1]
XP_005274250.1. XM_005274193.2. [O15020-1]
XP_006718733.1. XM_006718670.1. [O15020-1]
XP_006718734.1. XM_006718671.1. [O15020-1]
UniGeneiHs.26915.
Hs.586709.
Hs.679104.

Genome annotation databases

EnsembliENST00000309996; ENSP00000311489; ENSG00000173898. [O15020-1]
ENST00000529997; ENSP00000433593; ENSG00000173898. [O15020-2]
ENST00000533211; ENSP00000432568; ENSG00000173898. [O15020-1]
GeneIDi6712.
KEGGihsa:6712.
UCSCiuc001ojd.3. human. [O15020-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB008567 mRNA. Translation: BAA32700.2 . Different initiation.
AP001157 Genomic DNA. No translation available.
AF079569 mRNA. Translation: AAC80006.1 .
AF026487 mRNA. Translation: AAC79502.1 .
AF026488 mRNA. Translation: AAC79503.1 .
AF026488 mRNA. Translation: AAC79504.1 .
CCDSi CCDS8150.1. [O15020-1 ]
RefSeqi NP_008877.1. NM_006946.2.
XP_005274249.1. XM_005274192.2. [O15020-1 ]
XP_005274250.1. XM_005274193.2. [O15020-1 ]
XP_006718733.1. XM_006718670.1. [O15020-1 ]
XP_006718734.1. XM_006718671.1. [O15020-1 ]
UniGenei Hs.26915.
Hs.586709.
Hs.679104.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1WJM NMR - A 2219-2328 [» ]
1WYQ NMR - A 178-291 [» ]
ProteinModelPortali O15020.
SMRi O15020. Positions 51-291, 302-2084, 2212-2333.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112590. 8 interactions.
DIPi DIP-47270N.
IntActi O15020. 6 interactions.
STRINGi 9606.ENSP00000311489.

PTM databases

PhosphoSitei O15020.

Proteomic databases

MaxQBi O15020.
PaxDbi O15020.
PRIDEi O15020.

Protocols and materials databases

DNASUi 6712.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000309996 ; ENSP00000311489 ; ENSG00000173898 . [O15020-1 ]
ENST00000529997 ; ENSP00000433593 ; ENSG00000173898 . [O15020-2 ]
ENST00000533211 ; ENSP00000432568 ; ENSG00000173898 . [O15020-1 ]
GeneIDi 6712.
KEGGi hsa:6712.
UCSCi uc001ojd.3. human. [O15020-1 ]

Organism-specific databases

CTDi 6712.
GeneCardsi GC11M066453.
HGNCi HGNC:11276. SPTBN2.
HPAi CAB009844.
MIMi 600224. phenotype.
604985. gene.
615386. phenotype.
neXtProti NX_O15020.
Orphaneti 352403. Spectrin-associated autosomal recessive cerebellar ataxia.
98766. Spinocerebellar ataxia type 5.
PharmGKBi PA36105.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5069.
HOGENOMi HOG000007281.
HOVERGENi HBG057912.
InParanoidi O15020.
KOi K06115.
OMAi IQGQYSD.
OrthoDBi EOG73RB9J.
PhylomeDBi O15020.
TreeFami TF313446.

Enzyme and pathway databases

Reactomei REACT_121399. MHC class II antigen presentation.
REACT_18334. NCAM signaling for neurite out-growth.
REACT_22266. Interaction between L1 and Ankyrins.

Miscellaneous databases

ChiTaRSi SPTBN2. human.
EvolutionaryTracei O15020.
GeneWikii SPTBN2.
GenomeRNAii 6712.
NextBioi 26178.
PROi O15020.
SOURCEi Search...

Gene expression databases

ArrayExpressi O15020.
Bgeei O15020.
CleanExi HS_SPTBN2.
Genevestigatori O15020.

Family and domain databases

Gene3Di 1.10.418.10. 2 hits.
2.30.29.30. 1 hit.
InterProi IPR001589. Actinin_actin-bd_CS.
IPR001715. CH-domain.
IPR001605. PH_dom-spectrin-type.
IPR001849. PH_domain.
IPR011993. PH_like_dom.
IPR018159. Spectrin/alpha-actinin.
IPR016343. Spectrin_bsu.
IPR002017. Spectrin_repeat.
[Graphical view ]
Pfami PF00307. CH. 2 hits.
PF00435. Spectrin. 17 hits.
[Graphical view ]
PIRSFi PIRSF002297. Spectrin_beta_subunit. 1 hit.
PRINTSi PR00683. SPECTRINPH.
SMARTi SM00033. CH. 2 hits.
SM00233. PH. 1 hit.
SM00150. SPEC. 17 hits.
[Graphical view ]
SUPFAMi SSF47576. SSF47576. 1 hit.
PROSITEi PS00019. ACTININ_1. 1 hit.
PS00020. ACTININ_2. 1 hit.
PS50021. CH. 2 hits.
PS50003. PH_DOMAIN. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro."
    Nagase T., Ishikawa K., Nakajima D., Ohira M., Seki N., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
    DNA Res. 4:141-150(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT GLY-825.
    Tissue: Brain.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-34.
    Tissue: Brain.
  4. "SPTBN2, a new, widely expressed beta III spectrin gene located on human chromosome 11q13 and mouse chromosome 19."
    Tse W.T., Peters L.L., John K.M., Lux S.E.
    Submitted (SEP-1997) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1900-2390 (ISOFORMS 1 AND 2).
    Tissue: Brain.
  5. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
    Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
    Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2171, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  6. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2171 AND SER-2359, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  7. "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: ACETYLATION [LARGE SCALE ANALYSIS] AT SER-2, PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2171 AND SER-2359, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  9. "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-2171, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  10. Cited for: INVOLVEMENT IN SCAR14.
  11. "Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations."
    Elsayed S.M., Heller R., Thoenes M., Zaki M.S., Swan D., Elsobky E., Zuehlke C., Ebermann I., Nuernberg G., Nuernberg P., Bolz H.J.
    Eur. J. Hum. Genet. 22:286-288(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN SCAR14.
  12. "Solution structure of pleckstrin homology domain of human beta III spectrin."
    RIKEN structural genomics initiative (RSGI)
    Submitted (NOV-2004) to the PDB data bank
    Cited for: STRUCTURE BY NMR OF 2219-2328.
  13. "Solution structure of the second CH domain of human spectrin beta chain, brain 2."
    RIKEN structural genomics initiative (RSGI)
    Submitted (AUG-2005) to the PDB data bank
    Cited for: STRUCTURE BY NMR OF 178-291.
  14. Cited for: VARIANTS SCA5 PRO-253; 532-GLU--MET-544 DEL AND 629-LEU--ARG-634 DELINS TRP.
  15. Cited for: VARIANT [LARGE SCALE ANALYSIS] LYS-774.
  16. Cited for: VARIANT SCA5 TRP-480.

Entry informationi

Entry nameiSPTN2_HUMAN
AccessioniPrimary (citable) accession number: O15020
Secondary accession number(s): O14872, O14873
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: October 5, 2010
Last modified: September 3, 2014
This is version 142 of the entry and version 3 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 11
    Human chromosome 11: 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

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