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O15020

- SPTN2_HUMAN

UniProt

O15020 - SPTN2_HUMAN

Protein

Spectrin beta chain, non-erythrocytic 2

Gene

SPTBN2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 143 (01 Oct 2014)
      Sequence version 3 (05 Oct 2010)
      Previous versions | rss
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    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

    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

    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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    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 2PRO_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. 7 interactions.
    STRINGi9606.ENSP00000311489.

    Structurei

    Secondary structure

    1
    2390
    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiO15020.

    Family & Domainsi

    Domains and Repeats

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

    Sequence similaritiesi

    Belongs to the spectrin family.Curated
    Contains 2 CH (calponin-homology) domains.PROSITE-ProRule annotation
    Contains 1 PH domain.PROSITE-ProRule annotation
    Contains 17 spectrin repeats.Curated

    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. 1 PublicationVSP_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. 7 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

    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: October 1, 2014
    This is version 143 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