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Protein

Spectrin beta chain, non-erythrocytic 2

Gene

SPTBN2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Probably plays an important role in neuronal membrane skeleton.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActin capping, Actin-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-2132295 MHC class II antigen presentation
R-HSA-375165 NCAM signaling for neurite out-growth
R-HSA-445095 Interaction between L1 and Ankyrins
R-HSA-5673001 RAF/MAP kinase cascade
R-HSA-6807878 COPI-mediated anterograde transport

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Spectrin beta chain, non-erythrocytic 2
Alternative name(s):
Beta-III spectrin
Spinocerebellar ataxia 5 protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SPTBN2
Synonyms:KIAA0302, SCA5
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000173898.11

Human Gene Nomenclature Database

More...
HGNCi
HGNC:11276 SPTBN2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
604985 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O15020

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Spinocerebellar ataxia 5 (SCA5)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionSpinocerebellar 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.
See also OMIM:600224
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_026767253L → P in SCA5. 1 PublicationCorresponds to variant dbSNP:rs121918306EnsemblClinVar.1
Natural variantiVAR_070232480R → W in SCA5. 1 PublicationCorresponds to variant dbSNP:rs397514749EnsemblClinVar.1
Natural variantiVAR_026768532 – 544Missing in SCA5. 1 PublicationAdd BLAST13
Natural variantiVAR_026769629 – 634LAAARR → W in SCA5. 1 Publication6
Spinocerebellar ataxia, autosomal recessive, 14 (SCAR14)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionSpinocerebellar 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.
See also OMIM:615386

Keywords - Diseasei

Disease mutation, Neurodegeneration, Spinocerebellar ataxia

Organism-specific databases

DisGeNET

More...
DisGeNETi
6712

MalaCards human disease database

More...
MalaCardsi
SPTBN2
MIMi600224 phenotype
615386 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000173898

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
352403 Spectrin-associated autosomal recessive cerebellar ataxia
98766 Spinocerebellar ataxia type 5

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA36105

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SPTBN2

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000734632 – 2390Spectrin beta chain, non-erythrocytic 2Add BLAST2389

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylserineCombined sources1
Modified residuei6PhosphoserineBy similarity1
Modified residuei31PhosphoserineCombined sources1
Modified residuei959PhosphoserineCombined sources1
Modified residuei1073PhosphoserineCombined sources1
Modified residuei2171PhosphoserineCombined sources1
Modified residuei2199PhosphoserineBy similarity1
Modified residuei2354PhosphothreonineCombined sources1
Modified residuei2359PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
O15020

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
O15020

MaxQB - The MaxQuant DataBase

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MaxQBi
O15020

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
O15020

PeptideAtlas

More...
PeptideAtlasi
O15020

PRoteomics IDEntifications database

More...
PRIDEi
O15020

ProteomicsDB human proteome resource

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ProteomicsDBi
48376
48377 [O15020-2]

PTM databases

CarbonylDB database of protein carbonylation sites

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CarbonylDBi
O15020

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O15020

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
O15020

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
O15020

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000173898 Expressed in 157 organ(s), highest expression level in frontal cortex

CleanEx database of gene expression profiles

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CleanExi
HS_SPTBN2

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O15020 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O15020 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB009844
HPA039293
HPA043529

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
112590, 36 interactors

Database of interacting proteins

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DIPi
DIP-47270N

Protein interaction database and analysis system

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IntActi
O15020, 28 interactors

Molecular INTeraction database

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MINTi
O15020

STRING: functional protein association networks

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STRINGi
9606.ENSP00000311489

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

12390
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1WJMNMR-A2219-2328[»]
1WYQNMR-A178-291[»]
6ANUelectron microscopy7.00a/b/c/d/e/f1-284[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
O15020

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
O15020

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
O15020

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini57 – 161Calponin-homology (CH) 1PROSITE-ProRule annotationAdd BLAST105
Domaini176 – 281Calponin-homology (CH) 2PROSITE-ProRule annotationAdd BLAST106
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati306 – 414Spectrin 1Sequence analysisAdd BLAST109
Repeati427 – 527Spectrin 2Sequence analysisAdd BLAST101
Repeati532 – 639Spectrin 3Sequence analysisAdd BLAST108
Repeati642 – 744Spectrin 4Sequence analysisAdd BLAST103
Repeati749 – 849Spectrin 5Sequence analysisAdd BLAST101
Repeati855 – 954Spectrin 6Sequence analysisAdd BLAST100
Repeati960 – 1063Spectrin 7Sequence analysisAdd BLAST104
Repeati1066 – 1169Spectrin 8Sequence analysisAdd BLAST104
Repeati1174 – 1262Spectrin 9Sequence analysisAdd BLAST89
Repeati1279 – 1379Spectrin 10Sequence analysisAdd BLAST101
Repeati1384 – 1485Spectrin 11Sequence analysisAdd BLAST102
Repeati1489 – 1586Spectrin 12Sequence analysisAdd BLAST98
Repeati1589 – 1692Spectrin 13Sequence analysisAdd BLAST104
Repeati1696 – 1797Spectrin 14Sequence analysisAdd BLAST102
Repeati1801 – 1904Spectrin 15Sequence analysisAdd BLAST104
Repeati1910 – 2010Spectrin 16Sequence analysisAdd BLAST101
Repeati2017 – 2076Spectrin 17Sequence analysisAdd BLAST60
Domaini2218 – 2328PHPROSITE-ProRule annotationAdd BLAST111

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni2 – 278Actin-bindingAdd BLAST277

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the spectrin family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0035 Eukaryota
COG5069 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000158847

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000007281

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG057912

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O15020

KEGG Orthology (KO)

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KOi
K06115

Identification of Orthologs from Complete Genome Data

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OMAi
KQLNHRW

Database of Orthologous Groups

More...
OrthoDBi
543832at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O15020

TreeFam database of animal gene trees

More...
TreeFami
TF313446

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00014 CH, 2 hits

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.10.418.10, 2 hits
2.30.29.30, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR001589 Actinin_actin-bd_CS
IPR001715 CH-domain
IPR036872 CH_dom_sf
IPR011993 PH-like_dom_sf
IPR001605 PH_dom-spectrin-type
IPR001849 PH_domain
IPR018159 Spectrin/alpha-actinin
IPR016343 Spectrin_bsu
IPR002017 Spectrin_repeat

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00307 CH, 2 hits
PF00435 Spectrin, 17 hits

PIRSF; a whole-protein classification database

More...
PIRSFi
PIRSF002297 Spectrin_beta_subunit, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00683 SPECTRINPH

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00033 CH, 2 hits
SM00233 PH, 1 hit
SM00150 SPEC, 17 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF47576 SSF47576, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00019 ACTININ_1, 1 hit
PS00020 ACTININ_2, 1 hit
PS50021 CH, 2 hits
PS50003 PH_DOMAIN, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

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
        10         20         30         40         50
MSSTLSPTDF DSLEIQGQYS DINNRWDLPD SDWDNDSSSA RLFERSRIKA
60 70 80 90 100
LADEREAVQK KTFTKWVNSH LARVTCRVGD LYSDLRDGRN LLRLLEVLSG
110 120 130 140 150
EILPKPTKGR MRIHCLENVD KALQFLKEQK VHLENMGSHD IVDGNHRLTL
160 170 180 190 200
GLVWTIILRF QIQDISVETE DNKEKKSAKD ALLLWCQMKT AGYPNVNVHN
210 220 230 240 250
FTTSWRDGLA FNAIVHKHRP DLLDFESLKK CNAHYNLQNA FNLAEKELGL
260 270 280 290 300
TKLLDPEDVN VDQPDEKSII TYVATYYHYF SKMKALAVEG KRIGKVLDHA
310 320 330 340 350
MEAERLVEKY ESLASELLQW IEQTIVTLND RQLANSLSGV QNQLQSFNSY
360 370 380 390 400
RTVEKPPKFT EKGNLEVLLF TIQSKLRANN QKVYTPREGR LISDINKAWE
410 420 430 440 450
RLEKAEHERE LALRTELIRQ EKLEQLAARF DRKAAMRETW LSENQRLVSQ
460 470 480 490 500
DNFGLELAAV EAAVRKHEAI ETDIVAYSGR VQAVDAVAAE LAAERYHDIK
510 520 530 540 550
RIAARQHNVA RLWDFLRQMV AARRERLLLN LELQKVFQDL LYLMDWMEEM
560 570 580 590 600
KGRLQSQDLG RHLAGVEDLL QLHELVEADI AVQAERVRAV SASALRFCNP
610 620 630 640 650
GKEYRPCDPQ LVSERVAKLE QSYEALCELA AARRARLEES RRLWRFLWEV
660 670 680 690 700
GEAEAWVREQ QHLLASADTG RDLTGALRLL NKHTALRGEM SGRLGPLKLT
710 720 730 740 750
LEQGQQLVAE GHPGASQASA RAAELQAQWE RLEALAEERA QRLAQAASLY
760 770 780 790 800
QFQADANDME AWLVDALRLV SSPELGHDEF STQALARQHR ALEEEIRSHR
810 820 830 840 850
PTLDALREQA AALPPTLSRT PEVQSRVPTL ERHYEELQAR AGERARALEA
860 870 880 890 900
ALALYTMLSE AGACGLWVEE KEQWLNGLAL PERLEDLEVV QQRFETLEPE
910 920 930 940 950
MNTLAAQITA VNDIAEQLLK ANPPGKDRIV NTQEQLNHRW QQFRRLADGK
960 970 980 990 1000
KAALTSALSI QNYHLECTET QAWMREKTKV IESTQGLGND LAGVLALQRK
1010 1020 1030 1040 1050
LAGTERDLEA IAARVGELTR EANALAAGHP AQAVAINARL REVQTGWEDL
1060 1070 1080 1090 1100
RATMRRREES LGEARRLQDF LRSLDDFQAW LGRTQTAVAS EEGPATLPEA
1110 1120 1130 1140 1150
EALLAQHAAL RGEVERAQSE YSRLRALGEE VTRDQADPQC LFLRQRLEAL
1160 1170 1180 1190 1200
GTGWEELGRM WESRQGRLAQ AHGFQGFLRD ARQAEGVLSS QEYVLSHTEM
1210 1220 1230 1240 1250
PGTLQAADAA IKKLEDFMST MDANGERIHG LLEAGRQLVS EGNIHADKIR
1260 1270 1280 1290 1300
EKADSIERRH KKNQDAAQQF LGRLRDNREQ QHFLQDCHEL KLWIDEKMLT
1310 1320 1330 1340 1350
AQDVSYDEAR NLHTKWQKHQ AFMAELAANK DWLDKVDKEG RELTLEKPEL
1360 1370 1380 1390 1400
KALVSEKLRD LHRRWDELET TTQAKARSLF DANRAELFAQ SCCALESWLE
1410 1420 1430 1440 1450
SLQAQLHSDD YGKDLTSVNI LLKKQQMLEW EMAVREKEVE AIQAQAKALA
1460 1470 1480 1490 1500
QEDQGAGEVE RTSRAVEEKF RALCQPMRER CRRLQASREQ HQFHRDVEDE
1510 1520 1530 1540 1550
ILWVTERLPM ASSMEHGKDL PSVQLLMKKN QTLQKEIQGH EPRIADLRER
1560 1570 1580 1590 1600
QRALGAAAAG PELAELQEMW KRLGHELELR GKRLEDALRA QQFYRDAAEA
1610 1620 1630 1640 1650
EAWMGEQELH MMGQEKAKDE LSAQAEVKKH QVLEQALADY AQTIHQLAAS
1660 1670 1680 1690 1700
SQDMIDHEHP ESTRISIRQA QVDKLYAGLK ELAGERRERL QEHLRLCQLR
1710 1720 1730 1740 1750
RELDDLEQWI QEREVVAASH ELGQDYEHVT MLRDKFREFS RDTSTIGQER
1760 1770 1780 1790 1800
VDSANALANG LIAGGHAARA TVAEWKDSLN EAWADLLELL DTRGQVLAAA
1810 1820 1830 1840 1850
YELQRFLHGA RQALARVQHK QQQLPDGTGR DLNAAEALQR RHCAYEHDIQ
1860 1870 1880 1890 1900
ALSPQVQQVQ DDGHRLQKAY AGDKAEEIGR HMQAVAEAWA QLQGSSAARR
1910 1920 1930 1940 1950
QLLLDTTDKF RFFKAVRELM LWMDEVNLQM DAQERPRDVS SADLVIKNQQ
1960 1970 1980 1990 2000
GIKAEIEARA DRFSSCIDMG KELLARSHYA AEEISEKLSQ LQARRQETAE
2010 2020 2030 2040 2050
KWQEKMDWLQ LVLEVLVFGR DAGMAEAWLC SQEPLVRSAE LGCTVDEVES
2060 2070 2080 2090 2100
LIKRHEAFQK SAVAWEERFC ALEKLTALEE REKERKRKRE EEERRKQPPA
2110 2120 2130 2140 2150
PEPTASVPPG DLVGGQTASD TTWDGTQPRP PPSTQAPSVN GVCTDGEPSQ
2160 2170 2180 2190 2200
PLLGQQRLEH SSFPEGPGPG SGDEANGPRG ERQTRTRGPA PSAMPQSRST
2210 2220 2230 2240 2250
ESAHAATLPP RGPEPSAQEQ MEGMLCRKQE MEAFGKKAAN RSWQNVYCVL
2260 2270 2280 2290 2300
RRGSLGFYKD AKAASAGVPY HGEVPVSLAR AQGSVAFDYR KRKHVFKLGL
2310 2320 2330 2340 2350
QDGKEYLFQA KDEAEMSSWL RVVNAAIATA SSASGEPEEP VVPSTTRGMT
2360 2370 2380 2390
RAMTMPPVSP VGAEGPVVLR SKDGRERERE KRFSFFKKNK
Length:2,390
Mass (Da):271,325
Last modified:October 5, 2010 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A4QPE4A4QPE4_HUMAN
SPTBN2 protein
SPTBN2
934Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PJZ2E9PJZ2_HUMAN
Spectrin beta chain, non-erythrocyt...
SPTBN2
117Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_026767253L → P in SCA5. 1 PublicationCorresponds to variant dbSNP:rs121918306EnsemblClinVar.1
Natural variantiVAR_070232480R → W in SCA5. 1 PublicationCorresponds to variant dbSNP:rs397514749EnsemblClinVar.1
Natural variantiVAR_026768532 – 544Missing in SCA5. 1 PublicationAdd BLAST13
Natural variantiVAR_026769629 – 634LAAARR → W in SCA5. 1 Publication6
Natural variantiVAR_035458774E → K in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_026770825S → G1 PublicationCorresponds to variant dbSNP:rs4930388Ensembl.1
Natural variantiVAR_048631835E → K. Corresponds to variant dbSNP:rs36054877Ensembl.1
Natural variantiVAR_0267711034V → A. Corresponds to variant dbSNP:rs506028EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0007222314 – 2390AEMSS…FKKNK → VSCPSCSSLSVPFQKLPAAD SPSFPVLPLFPGLVLCGKTG CVRRPHQAALPV in isoform 2. 1 PublicationAdd BLAST77

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS8150.1 [O15020-1]

NCBI Reference Sequences

More...
RefSeqi
NP_008877.1, NM_006946.2
XP_005274249.1, XM_005274192.4 [O15020-1]
XP_005274250.1, XM_005274193.3 [O15020-1]
XP_006718734.1, XM_006718671.3 [O15020-1]
XP_016873663.1, XM_017018174.1 [O15020-1]
XP_016873664.1, XM_017018175.1 [O15020-1]
XP_016873665.1, XM_017018176.1 [O15020-1]
XP_016873666.1, XM_017018177.1 [O15020-1]
XP_016873667.1, XM_017018178.1 [O15020-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.26915
Hs.586709
Hs.679104

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000309996; ENSP00000311489; ENSG00000173898 [O15020-1]
ENST00000529997; ENSP00000433593; ENSG00000173898 [O15020-2]
ENST00000533211; ENSP00000432568; ENSG00000173898 [O15020-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
6712

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:6712

UCSC genome browser

More...
UCSCi
uc001ojc.2 human [O15020-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_005274192.4 [O15020-1]
XP_005274250.1, XM_005274193.3 [O15020-1]
XP_006718734.1, XM_006718671.3 [O15020-1]
XP_016873663.1, XM_017018174.1 [O15020-1]
XP_016873664.1, XM_017018175.1 [O15020-1]
XP_016873665.1, XM_017018176.1 [O15020-1]
XP_016873666.1, XM_017018177.1 [O15020-1]
XP_016873667.1, XM_017018178.1 [O15020-1]
UniGeneiHs.26915
Hs.586709
Hs.679104

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1WJMNMR-A2219-2328[»]
1WYQNMR-A178-291[»]
6ANUelectron microscopy7.00a/b/c/d/e/f1-284[»]
ProteinModelPortaliO15020
SMRiO15020
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112590, 36 interactors
DIPiDIP-47270N
IntActiO15020, 28 interactors
MINTiO15020
STRINGi9606.ENSP00000311489

PTM databases

CarbonylDBiO15020
iPTMnetiO15020
PhosphoSitePlusiO15020
SwissPalmiO15020

Polymorphism and mutation databases

BioMutaiSPTBN2

Proteomic databases

EPDiO15020
jPOSTiO15020
MaxQBiO15020
PaxDbiO15020
PeptideAtlasiO15020
PRIDEiO15020
ProteomicsDBi48376
48377 [O15020-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
6712
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000309996; ENSP00000311489; ENSG00000173898 [O15020-1]
ENST00000529997; ENSP00000433593; ENSG00000173898 [O15020-2]
ENST00000533211; ENSP00000432568; ENSG00000173898 [O15020-1]
GeneIDi6712
KEGGihsa:6712
UCSCiuc001ojc.2 human [O15020-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
6712
DisGeNETi6712
EuPathDBiHostDB:ENSG00000173898.11

GeneCards: human genes, protein and diseases

More...
GeneCardsi
SPTBN2
HGNCiHGNC:11276 SPTBN2
HPAiCAB009844
HPA039293
HPA043529
MalaCardsiSPTBN2
MIMi600224 phenotype
604985 gene
615386 phenotype
neXtProtiNX_O15020
OpenTargetsiENSG00000173898
Orphaneti352403 Spectrin-associated autosomal recessive cerebellar ataxia
98766 Spinocerebellar ataxia type 5
PharmGKBiPA36105

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0035 Eukaryota
COG5069 LUCA
GeneTreeiENSGT00940000158847
HOGENOMiHOG000007281
HOVERGENiHBG057912
InParanoidiO15020
KOiK06115
OMAiKQLNHRW
OrthoDBi543832at2759
PhylomeDBiO15020
TreeFamiTF313446

Enzyme and pathway databases

ReactomeiR-HSA-2132295 MHC class II antigen presentation
R-HSA-375165 NCAM signaling for neurite out-growth
R-HSA-445095 Interaction between L1 and Ankyrins
R-HSA-5673001 RAF/MAP kinase cascade
R-HSA-6807878 COPI-mediated anterograde transport

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
SPTBN2 human
EvolutionaryTraceiO15020

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
SPTBN2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
6712

Protein Ontology

More...
PROi
PR:O15020

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000173898 Expressed in 157 organ(s), highest expression level in frontal cortex
CleanExiHS_SPTBN2
ExpressionAtlasiO15020 baseline and differential
GenevisibleiO15020 HS

Family and domain databases

CDDicd00014 CH, 2 hits
Gene3Di1.10.418.10, 2 hits
2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR001589 Actinin_actin-bd_CS
IPR001715 CH-domain
IPR036872 CH_dom_sf
IPR011993 PH-like_dom_sf
IPR001605 PH_dom-spectrin-type
IPR001849 PH_domain
IPR018159 Spectrin/alpha-actinin
IPR016343 Spectrin_bsu
IPR002017 Spectrin_repeat
PfamiView protein in Pfam
PF00307 CH, 2 hits
PF00435 Spectrin, 17 hits
PIRSFiPIRSF002297 Spectrin_beta_subunit, 1 hit
PRINTSiPR00683 SPECTRINPH
SMARTiView protein in SMART
SM00033 CH, 2 hits
SM00233 PH, 1 hit
SM00150 SPEC, 17 hits
SUPFAMiSSF47576 SSF47576, 1 hit
PROSITEiView protein in PROSITE
PS00019 ACTININ_1, 1 hit
PS00020 ACTININ_2, 1 hit
PS50021 CH, 2 hits
PS50003 PH_DOMAIN, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSPTN2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O15020
Secondary accession number(s): O14872, O14873
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: October 5, 2010
Last modified: January 16, 2019
This is version 185 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
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