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2025-05-09 16:32:20, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_006946 7884 bp mRNA linear PRI 12-MAY-2013
DEFINITION Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.
ACCESSION NM_006946
VERSION NM_006946.2 GI:197381953
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 7884)
AUTHORS Salcedo-Sicilia,L., Granell,S., Jovic,M., Sicart,A., Mato,E.,
Johannes,L., Balla,T. and Egea,G.
TITLE betaIII spectrin regulates the structural integrity and the
secretory protein transport of the Golgi complex
JOURNAL J. Biol. Chem. 288 (4), 2157-2166 (2013)
PUBMED 23233669
REMARK GeneRIF: betaIII spectrin regulates the structural integrity and
the secretory protein transport of the Golgi complex
REFERENCE 2 (bases 1 to 7884)
AUTHORS Shin,S., Park,J.S., Kim,Y.J., Oh,T., An,S. and Park,C.S.
TITLE Differential gene expression profile in PBMCs from subjects with
AERD and ATA: a gene marker for AERD
JOURNAL Mol. Genet. Genomics 287 (5), 361-371 (2012)
PUBMED 22457146
REMARK GeneRIF: two gene markers (CNKSR3 and SPTBN2) differentiate between
aspirin-exacerbated respiratory disease and aspirin-tolerant asthma
with a perfect discriminative power
REFERENCE 3 (bases 1 to 7884)
AUTHORS Lise,S., Clarkson,Y., Perkins,E., Kwasniewska,A., Sadighi Akha,E.,
Schnekenberg,R.P., Suminaite,D., Hope,J., Baker,I., Gregory,L.,
Green,A., Allan,C., Lamble,S., Jayawant,S., Quaghebeur,G.,
Cader,M.Z., Hughes,S., Armstrong,R.J., Kanapin,A., Rimmer,A.,
Lunter,G., Mathieson,I., Cazier,J.B., Buck,D., Taylor,J.C.,
Bentley,D., McVean,G., Donnelly,P., Knight,S.J., Jackson,M.,
Ragoussis,J. and Nemeth,A.H.
TITLE Recessive mutations in SPTBN2 implicate beta-III spectrin in both
cognitive and motor development
JOURNAL PLoS Genet. 8 (12), E1003074 (2012)
PUBMED 23236289
REMARK GeneRIF: the identification of SPARCA1 and normal heterozygous
carriers of the stop codon in SPTBN2 provides insights into the
mechanism of molecular dominance in SCA5 and demonstrates that the
cell-specific repertoire of spectrin subunits
REFERENCE 4 (bases 1 to 7884)
AUTHORS Dick,K.A., Ikeda,Y., Day,J.W. and Ranum,L.P.
TITLE Spinocerebellar ataxia type 5
JOURNAL Handb Clin Neurol 103, 451-459 (2012)
PUBMED 21827906
REMARK GeneRIF: This review summarizes data showing that beta-III spectrin
mutations are a novel cause of neurodegenerative disease, which may
affect the stabilization or trafficking of membrane proteins.
Review article
REFERENCE 5 (bases 1 to 7884)
CONSRTM Psychiatric GWAS Consortium Bipolar Disorder Working Group
TITLE Large-scale genome-wide association analysis of bipolar disorder
identifies a new susceptibility locus near ODZ4
JOURNAL Nat. Genet. 43 (10), 977-983 (2011)
PUBMED 21926972
REMARK Erratum:[Nat Genet. 2012 Sep;44(9):1072. Fullerton, Janice M
[added]; Hyoun, Phil L [corrected to Lee, Phil H]; Meng, Fan Guo
[corrected to Meng, Fan]]
Publication Status: Online-Only
REFERENCE 6 (bases 1 to 7884)
AUTHORS Holleran,E.A., Ligon,L.A., Tokito,M., Stankewich,M.C., Morrow,J.S.
and Holzbaur,E.L.
TITLE beta III spectrin binds to the Arp1 subunit of dynactin
JOURNAL J. Biol. Chem. 276 (39), 36598-36605 (2001)
PUBMED 11461920
REFERENCE 7 (bases 1 to 7884)
AUTHORS De Matteis,M.A. and Morrow,J.S.
TITLE Spectrin tethers and mesh in the biosynthetic pathway
JOURNAL J. Cell. Sci. 113 (PT 13), 2331-2343 (2000)
PUBMED 10852813
REMARK Review article
REFERENCE 8 (bases 1 to 7884)
AUTHORS Stankewich,M.C., Tse,W.T., Peters,L.L., Ch'ng,Y., John,K.M.,
Stabach,P.R., Devarajan,P., Morrow,J.S. and Lux,S.E.
TITLE A widely expressed betaIII spectrin associated with Golgi and
cytoplasmic vesicles
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 95 (24), 14158-14163 (1998)
PUBMED 9826670
REFERENCE 9 (bases 1 to 7884)
AUTHORS Ohara,O., Ohara,R., Yamakawa,H., Nakajima,D. and Nakayama,M.
TITLE Characterization of a new beta-spectrin gene which is predominantly
expressed in brain
JOURNAL Brain Res. Mol. Brain Res. 57 (2), 181-192 (1998)
PUBMED 9675416
REFERENCE 10 (bases 1 to 7884)
AUTHORS Ranum,L.P., Schut,L.J., Lundgren,J.K., Orr,H.T. and Livingston,D.M.
TITLE Spinocerebellar ataxia type 5 in a family descended from the
grandparents of President Lincoln maps to chromosome 11
JOURNAL Nat. Genet. 8 (3), 280-284 (1994)
PUBMED 7874171
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AB008567.1 and AF026487.1.
This sequence is a reference standard in the RefSeqGene project.
On Aug 29, 2008 this sequence version replaced gi:5902121.
Summary: Spectrins are principle components of a cell's
membrane-cytoskeleton and are composed of two alpha and two beta
spectrin subunits. The protein encoded by this gene (SPTBN2), is
called spectrin beta non-erythrocytic 2 or beta-III spectrin. It is
related to, but distinct from, the beta-II spectrin gene which is
also known as spectrin beta non-erythrocytic 1 (SPTBN1). SPTBN2
regulates the glutamate signaling pathway by stabilizing the
glutamate transporter EAAT4 at the surface of the plasma membrane.
Mutations in this gene cause a form of spinocerebellar ataxia,
SCA5, that is characterized by neurodegeneration, progressive
locomotor incoordination, dysarthria, and uncoordinated eye
movements. [provided by RefSeq, Dec 2009].
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: AB008567.1 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
ERS025081, ERS025082 [ECO:0000350]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-7864 AB008567.1 1-7864
7865-7884 AF026487.1 2098-2117
FEATURES Location/Qualifiers
source 1..7884
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="11"
/map="11q13"
gene 1..7884
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/note="spectrin, beta, non-erythrocytic 2"
/db_xref="GeneID:6712"
/db_xref="HGNC:11276"
/db_xref="HPRD:05404"
/db_xref="MIM:604985"
exon 1..50
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/inference="alignment:Splign:1.39.8"
exon 51..229
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/inference="alignment:Splign:1.39.8"
CDS 73..7245
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/note="spectrin beta chain, brain 2; beta-III spectrin;
glutamate transporter EAAT4-associated protein 41;
spectrin, non-erythroid beta chain 2; spinocerebellar
ataxia 5 protein"
/codon_start=1
/product="spectrin beta chain, non-erythrocytic 2"
/protein_id="NP_008877.1"
/db_xref="GI:5902122"
/db_xref="CCDS:CCDS8150.1"
/db_xref="GeneID:6712"
/db_xref="HGNC:11276"
/db_xref="HPRD:05404"
/db_xref="MIM:604985"
/translation="
MSSTLSPTDFDSLEIQGQYSDINNRWDLPDSDWDNDSSSARLFERSRIKALADEREAVQKKTFTKWVNSHLARVTCRVGDLYSDLRDGRNLLRLLEVLSGEILPKPTKGRMRIHCLENVDKALQFLKEQKVHLENMGSHDIVDGNHRLTLGLVWTIILRFQIQDISVETEDNKEKKSAKDALLLWCQMKTAGYPNVNVHNFTTSWRDGLAFNAIVHKHRPDLLDFESLKKCNAHYNLQNAFNLAEKELGLTKLLDPEDVNVDQPDEKSIITYVATYYHYFSKMKALAVEGKRIGKVLDHAMEAERLVEKYESLASELLQWIEQTIVTLNDRQLANSLSGVQNQLQSFNSYRTVEKPPKFTEKGNLEVLLFTIQSKLRANNQKVYTPREGRLISDINKAWERLEKAEHERELALRTELIRQEKLEQLAARFDRKAAMRETWLSENQRLVSQDNFGLELAAVEAAVRKHEAIETDIVAYSGRVQAVDAVAAELAAERYHDIKRIAARQHNVARLWDFLRQMVAARRERLLLNLELQKVFQDLLYLMDWMEEMKGRLQSQDLGRHLAGVEDLLQLHELVEADIAVQAERVRAVSASALRFCNPGKEYRPCDPQLVSERVAKLEQSYEALCELAAARRARLEESRRLWRFLWEVGEAEAWVREQQHLLASADTGRDLTGALRLLNKHTALRGEMSGRLGPLKLTLEQGQQLVAEGHPGASQASARAAELQAQWERLEALAEERAQRLAQAASLYQFQADANDMEAWLVDALRLVSSPELGHDEFSTQALARQHRALEEEIRSHRPTLDALREQAAALPPTLSRTPEVQGRVPTLERHYEELQARAGERARALEAALALYTMLSEAGACGLWVEEKEQWLNGLALPERLEDLEVVQQRFETLEPEMNTLAAQITAVNDIAEQLLKANPPGKDRIVNTQEQLNHRWQQFRRLADGKKAALTSALSIQNYHLECTETQAWMREKTKVIESTQGLGNDLAGVLALQRKLAGTERDLEAIAARVGELTREANALAAGHPAQAVAINARLREVQTGWEDLRATMRRREESLGEARRLQDFLRSLDDFQAWLGRTQTAVASEEGPATLPEAEALLAQHAALRGEVERAQSEYSRLRALGEEVTRDQADPQCLFLRQRLEALGTGWEELGRMWESRQGRLAQAHGFQGFLRDARQAEGVLSSQEYVLSHTEMPGTLQAADAAIKKLEDFMSTMDANGERIHGLLEAGRQLVSEGNIHADKIREKADSIERRHKKNQDAAQQFLGRLRDNREQQHFLQDCHELKLWIDEKMLTAQDVSYDEARNLHTKWQKHQAFMAELAANKDWLDKVDKEGRELTLEKPELKALVSEKLRDLHRRWDELETTTQAKARSLFDANRAELFAQSCCALESWLESLQAQLHSDDYGKDLTSVNILLKKQQMLEWEMAVREKEVEAIQAQAKALAQEDQGAGEVERTSRAVEEKFRALCQPMRERCRRLQASREQHQFHRDVEDEILWVTERLPMASSMEHGKDLPSVQLLMKKNQTLQKEIQGHEPRIADLRERQRALGAAAAGPELAELQEMWKRLGHELELRGKRLEDALRAQQFYRDAAEAEAWMGEQELHMMGQEKAKDELSAQAEVKKHQVLEQALADYAQTIHQLAASSQDMIDHEHPESTRISIRQAQVDKLYAGLKELAGERRERLQEHLRLCQLRRELDDLEQWIQEREVVAASHELGQDYEHVTMLRDKFREFSRDTSTIGQERVDSANALANGLIAGGHAARATVAEWKDSLNEAWADLLELLDTRGQVLAAAYELQRFLHGARQALARVQHKQQQLPDGTGRDLNAAEALQRRHCAYEHDIQALSPQVQQVQDDGHRLQKAYAGDKAEEIGRHMQAVAEAWAQLQGSSAARRQLLLDTTDKFRFFKAVRELMLWMDEVNLQMDAQERPRDVSSADLVIKNQQGIKAEIEARADRFSSCIDMGKELLARSHYAAEEISEKLSQLQARRQETAEKWQEKMDWLQLVLEVLVFGRDAGMAEAWLCSQEPLVRSAELGCTVDEVESLIKRHEAFQKSAVAWEERFCALEKLTALEEREKERKRKREEEERRKQPPAPEPTASVPPGDLVGGQTASDTTWDGTQPRPPPSTQAPSVNGVCTDGEPSQPLLGQQRLEHSSFPEGPGPGSGDEANGPRGERQTRTRGPAPSAMPQSRSTESAHAATLPPRGPEPSAQEQMEGMLCRKQEMEAFGKKAANRSWQNVYCVLRRGSLGFYKDAKAASAGVPYHGEVPVSLARAQGSVAFDYRKRKHVFKLGLQDGKEYLFQAKDEAEMSSWLRVVNAAIATASSASGEPEEPVVPSTTRGMTRAMTMPPVSPVGAEGPVVLRSKDGREREREKRFSFFKKNK
"
misc_feature 76..78
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/experiment="experimental evidence, no additional details
recorded"
/note="N-acetylserine; propagated from
UniProtKB/Swiss-Prot (O15020.3); acetylation site"
misc_feature 244..555
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/note="Calponin homology domain; actin-binding domain
which may be present as a single copy or in tandem repeats
(which increases binding affinity). The CH domain is found
in cytoskeletal and signal transduction proteins,
including actin-binding proteins like...; Region: CH;
cd00014"
/db_xref="CDD:28898"
misc_feature order(244..249,253..261,268..270,277..279,439..444,
451..453,460..462,466..468,511..516,523..528,532..537,
544..549)
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/note="putative actin binding surface [polypeptide
binding]; other site"
/db_xref="CDD:28898"
misc_feature 601..912
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/note="Calponin homology domain; actin-binding domain
which may be present as a single copy or in tandem repeats
(which increases binding affinity). The CH domain is found
in cytoskeletal and signal transduction proteins,
including actin-binding proteins like...; Region: CH;
cd00014"
/db_xref="CDD:28898"
misc_feature order(601..606,610..618,625..627,634..636,793..798,
805..807,817..819,823..825,871..876,883..888,892..897,
904..909)
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/note="putative actin binding surface [polypeptide
binding]; other site"
/db_xref="CDD:28898"
misc_feature 985..1317
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (O15020.3);
Region: Spectrin 1"
misc_feature 988..1635
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/note="Spectrin repeats, found in several proteins
involved in cytoskeletal structure; family members include
spectrin, alpha-actinin and dystrophin; the spectrin
repeat forms a three helix bundle with the second helix
interrupted by proline in some sequences; Region: SPEC;
cd00176"
/db_xref="CDD:29138"
misc_feature 1318..1335
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/note="linker region; other site"
/db_xref="CDD:29138"
misc_feature 1345..1659
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (O15020.3);
Region: Spectrin 2"
misc_feature 1357..1941
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/note="Spectrin repeats, found in several proteins
involved in cytoskeletal structure; family members include
spectrin, alpha-actinin and dystrophin; the spectrin
repeat forms a three helix bundle with the second helix
interrupted by proline in some sequences; Region: SPEC;
cd00176"
/db_xref="CDD:29138"
misc_feature 1660..1677
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/note="linker region; other site"
/db_xref="CDD:29138"
misc_feature 1663..1989
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (O15020.3);
Region: Spectrin 3"
misc_feature 1672..2226
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/note="Spectrin repeats, found in several proteins
involved in cytoskeletal structure; family members include
spectrin, alpha-actinin and dystrophin; the spectrin
repeat forms a three helix bundle with the second helix
interrupted by proline in some sequences; Region: SPEC;
cd00176"
/db_xref="CDD:29138"
misc_feature 1990..2007
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/note="linker region; other site"
/db_xref="CDD:29138"
misc_feature 1993..2307
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (O15020.3);
Region: Spectrin 4"
misc_feature 2311..2622
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (O15020.3);
Region: Spectrin 5"
misc_feature 2317..2946
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/note="Spectrin repeats, found in several proteins
involved in cytoskeletal structure; family members include
spectrin, alpha-actinin and dystrophin; the spectrin
repeat forms a three helix bundle with the second helix
interrupted by proline in some sequences; Region: SPEC;
cd00176"
/db_xref="CDD:29138"
misc_feature 2623..2640
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/note="linker region; other site"
/db_xref="CDD:29138"
misc_feature 2626..2940
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (O15020.3);
Region: Spectrin 6"
misc_feature 2671..3267
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/note="Spectrin repeats, found in several proteins
involved in cytoskeletal structure; family members include
spectrin, alpha-actinin and dystrophin; the spectrin
repeat forms a three helix bundle with the second helix
interrupted by proline in some sequences; Region: SPEC;
cd00176"
/db_xref="CDD:29138"
misc_feature 2941..2958
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/note="linker region; other site"
/db_xref="CDD:29138"
misc_feature 2944..3261
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (O15020.3);
Region: Spectrin 7"
misc_feature 3265..3582
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (O15020.3);
Region: Spectrin 8"
misc_feature 3268..3900
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/note="Spectrin repeats, found in several proteins
involved in cytoskeletal structure; family members include
spectrin, alpha-actinin and dystrophin; the spectrin
repeat forms a three helix bundle with the second helix
interrupted by proline in some sequences; Region: SPEC;
cd00176"
/db_xref="CDD:29138"
misc_feature 3583..3600
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/note="linker region; other site"
/db_xref="CDD:29138"
misc_feature 3586..3900
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (O15020.3);
Region: Spectrin 9"
misc_feature 3904..4215
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (O15020.3);
Region: Spectrin 10"
misc_feature 3907..4536
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/note="Spectrin repeats, found in several proteins
involved in cytoskeletal structure; family members include
spectrin, alpha-actinin and dystrophin; the spectrin
repeat forms a three helix bundle with the second helix
interrupted by proline in some sequences; Region: SPEC;
cd00176"
/db_xref="CDD:29138"
misc_feature 4216..4233
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/note="linker region; other site"
/db_xref="CDD:29138"
misc_feature 4219..4530
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (O15020.3);
Region: Spectrin 11"
misc_feature 4534..4830
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (O15020.3);
Region: Spectrin 12"
misc_feature 4537..5121
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/note="Spectrin repeats, found in several proteins
involved in cytoskeletal structure; family members include
spectrin, alpha-actinin and dystrophin; the spectrin
repeat forms a three helix bundle with the second helix
interrupted by proline in some sequences; Region: SPEC;
cd00176"
/db_xref="CDD:29138"
misc_feature 4831..4848
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/note="linker region; other site"
/db_xref="CDD:29138"
misc_feature 4834..5148
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (O15020.3);
Region: Spectrin 13"
misc_feature 4837..5475
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/note="Spectrin repeats, found in several proteins
involved in cytoskeletal structure; family members include
spectrin, alpha-actinin and dystrophin; the spectrin
repeat forms a three helix bundle with the second helix
interrupted by proline in some sequences; Region: SPEC;
cd00176"
/db_xref="CDD:29138"
misc_feature 5149..5166
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/note="linker region; other site"
/db_xref="CDD:29138"
misc_feature 5152..5469
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (O15020.3);
Region: Spectrin 14"
misc_feature 5473..5787
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (O15020.3);
Region: Spectrin 15"
misc_feature 5476..6102
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/note="Spectrin repeats, found in several proteins
involved in cytoskeletal structure; family members include
spectrin, alpha-actinin and dystrophin; the spectrin
repeat forms a three helix bundle with the second helix
interrupted by proline in some sequences; Region: SPEC;
cd00176"
/db_xref="CDD:29138"
misc_feature 5788..5805
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/note="linker region; other site"
/db_xref="CDD:29138"
misc_feature 5791..6105
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (O15020.3);
Region: Spectrin 16"
misc_feature 6109..6297
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (O15020.3);
Region: Spectrin 17"
misc_feature 6124..>6297
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/note="Spectrin repeats; Region: SPEC; smart00150"
/db_xref="CDD:197544"
misc_feature 6583..6585
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(O15020.3); phosphorylation site"
misc_feature 6733..7050
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/note="Beta-spectrin pleckstrin homology (PH) domain;
Region: PH_beta_spectrin; cd01253"
/db_xref="CDD:176329"
misc_feature order(6733..6756,6802..6825,6829..6849,6892..6909,
6916..6930,6955..6975,6985..7002,7015..7050)
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/note="core domain; other site"
/db_xref="CDD:176329"
misc_feature order(6754..6756,6793..6801,6937..6945)
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/note="inositol phophate binding site [chemical binding];
other site"
/db_xref="CDD:176329"
misc_feature 7147..7149
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(O15020.3); phosphorylation site"
exon 230..381
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/inference="alignment:Splign:1.39.8"
exon 382..555
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/inference="alignment:Splign:1.39.8"
exon 556..647
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/inference="alignment:Splign:1.39.8"
exon 648..728
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/inference="alignment:Splign:1.39.8"
exon 729..844
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/inference="alignment:Splign:1.39.8"
exon 845..957
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/inference="alignment:Splign:1.39.8"
exon 958..1145
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/inference="alignment:Splign:1.39.8"
exon 1146..1263
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/inference="alignment:Splign:1.39.8"
exon 1264..1422
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/inference="alignment:Splign:1.39.8"
exon 1423..1725
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/inference="alignment:Splign:1.39.8"
exon 1726..1879
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/inference="alignment:Splign:1.39.8"
exon 1880..2750
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/inference="alignment:Splign:1.39.8"
exon 2751..2888
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/inference="alignment:Splign:1.39.8"
exon 2889..3645
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/inference="alignment:Splign:1.39.8"
exon 3646..3848
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/inference="alignment:Splign:1.39.8"
exon 3849..3939
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/inference="alignment:Splign:1.39.8"
exon 3940..4086
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/inference="alignment:Splign:1.39.8"
exon 4087..4350
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/inference="alignment:Splign:1.39.8"
exon 4351..4575
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/inference="alignment:Splign:1.39.8"
exon 4576..4665
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/inference="alignment:Splign:1.39.8"
exon 4666..4926
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/inference="alignment:Splign:1.39.8"
exon 4927..5057
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/inference="alignment:Splign:1.39.8"
exon 5058..5262
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/inference="alignment:Splign:1.39.8"
exon 5263..5637
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/inference="alignment:Splign:1.39.8"
exon 5638..5882
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/inference="alignment:Splign:1.39.8"
exon 5883..6021
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/inference="alignment:Splign:1.39.8"
exon 6022..6106
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/inference="alignment:Splign:1.39.8"
exon 6107..6303
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/inference="alignment:Splign:1.39.8"
STS 6282..6436
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/standard_name="PMC24343P1"
/db_xref="UniSTS:272253"
exon 6304..6446
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/inference="alignment:Splign:1.39.8"
exon 6447..6522
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/inference="alignment:Splign:1.39.8"
exon 6523..6573
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/inference="alignment:Splign:1.39.8"
exon 6574..6794
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/inference="alignment:Splign:1.39.8"
exon 6795..6968
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/inference="alignment:Splign:1.39.8"
exon 6969..7011
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/inference="alignment:Splign:1.39.8"
exon 7012..7867
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/inference="alignment:Splign:1.39.8"
variation 7777
/gene="SPTBN2"
/gene_synonym="GTRAP41; SCA5"
/replace="c"
/replace="t"
/db_xref="dbSNP:1064352"
ORIGIN
ccactgagcagccaaccgcagcctctggccacaaggagagcggagcacaggagcaggaagccgcctaccaccatgagcagcacgctgtcacccacagactttgacagcttggaaatccagggccagtacagtgacatcaacaaccgctgggaccttcctgactcggactgggacaatgacagcagctcggcccgcctctttgagaggtctcgcattaaggctctggcagatgaacgagaagctgtgcagaagaaaaccttcaccaagtgggtaaactcgcacctggcccgggtcacgtgccgggtgggggacctgtacagcgacctccgggacggacgcaacctgctgaggctcctcgaggtgctctcgggagagatactgccaaagcctacaaagggccgcatgcggatccactgcctggagaacgtggacaaggcactgcagttcctcaaggagcagaaagtgcacttggaaaacatgggctcccatgacattgtggacggaaaccaccgactgacccttgggctggtctggaccatcatccttcgattccagatccaagacatcagtgtggagacagaagacaacaaggagaagaagtcagccaaggatgccctgcttctgtggtgccagatgaagactgcaggttatcccaacgtcaatgtacacaacttcaccaccagctggagagatggactagctttcaacgccatcgtgcataaacaccggccagacctgctggattttgagtctctgaagaagtgtaatgcacactataatctgcagaatgcattcaatctggctgaaaaggaactgggacttaccaagctgctggatcccgaagacgtgaatgtggaccagccagatgagaagtcaatcattacctatgtggctacttactaccattacttctccaagatgaaggccctggccgtggaaggcaagagaattggcaaggtgctggaccatgccatggaggcagagcgcctggtggagaaatacgagtccctggcctcggagctgctgcagtggatcgagcaaacgatcgtgaccctcaatgaccggcagttggccaactcccttagcggggtccagaaccagctgcagtccttcaactcctaccgcaccgtggagaagccgcccaagtttaccgagaaagggaacttggaagtgctgctcttcaccatccagagcaagcttcgggccaacaaccagaaggtctacacgccccgcgagggccggctcatctcggacatcaacaaggcttgggagcggctggagaaggcggagcacgagcgtgagctggccctgcgcaccgagctcatccgccaggagaagctggagcagctggccgcccgcttcgaccgcaaggctgccatgcgggagacctggctcagcgagaaccagcgcctcgtgtcccaggacaactttgggctggagctggcagctgtcgaggcagcagtacggaagcacgaagccattgagacggacatcgtggcctacagcggccgggtgcaggcagtggacgccgtggctgcagagctggccgccgagcgctaccacgacatcaagcgcatcgccgctcggcagcacaacgtggcacggctctgggacttcttgcggcagatggtggccgcccggcgggagcggctcctcctcaacctggagctgcagaaggtgttccaggacctgctctacctcatggactggatggaagagatgaagggccggctgcagtctcaggacctgggcaggcacctagcaggagtggaggacctgctgcagctgcacgagctggtggaggcagacatcgccgtgcaggccgagagggtgcgggccgtcagcgcctctgccctgcgcttctgcaacccagggaaagagtatagaccttgcgacccgcagctggtgtcggagcgggtggccaagctagagcagagctatgaggcactgtgcgagttggcagcggcgcggcgggcccggctggaggaatcacggcggctctggcgtttcctctgggaggtgggtgaagctgaggcctgggtgcgggagcagcagcacctcctggcctcagccgacacgggccgagacctgaccggtgccctccgcctgctcaacaagcacacagccctgcggggcgagatgagcggccggctggggcccctgaagctcaccctggagcagggccagcagttggtggccgagggtcaccctggggcaagccaggcctctgcccgtgcagctgaactccaagcccagtgggagcggctagaggccctggccgaggagcgtgcccagcggctggcccaagccgccagcctctaccagttccaggccgatgcaaacgacatggaggcctggttggttgacgcactgcgcctggtgtccagccccgagctggggcacgacgagttctccacgcaggctctagccaggcagcatcgggccctggaggaggagattcgaagccaccggccaaccctggacgccttgagggaacaggcagcagccctgccccccacactgagccgcacgcccgaggtgcagggccgggtgcccaccctggagcggcactacgaggagctgcaggcccgggcaggcgagcgagcgcgggccttggaggcagccctggcgctctacaccatgctcagcgaggccggggcctgtggactctgggtggaggagaaggagcagtggctcaacgggctggccctgcctgaacgcctggaggacctggaggtcgtgcagcagaggttcgagaccctggagcctgaaatgaacacccttgcagcacaaatcaccgcggtgaatgacattgccgagcagttactgaaggccaaccccccaggcaaagaccgcattgtcaacacccaggagcagctcaaccacaggtggcagcagtttcggcgtctggcagacggcaagaaggcagctctcacctcagccctgagcatccagaactaccacttagagtgcacggagacccaggcctggatgagagagaagaccaaagtcatcgagtccacccagggcctaggcaacgatctggctggggtgctggccctgcagcgcaagctggccggcacggagcgggacctggaggccatcgccgcccgggtgggcgaactgactcgagaggcaaatgccctggctgccggccatcccgctcaggcagtggccatcaacgcccggctgagagaggtgcagaccggctgggaggacctcagggccaccatgcggcgtcgagaagagtcgctgggggaggcgcggcggctgcaggacttcttgcgcagcttggatgacttccaggcctggctaggccgcactcagactgctgtggcctctgaagaagggccggccaccctgcctgaggcagaggccctcctggcccaacatgcagccctgcggggagaggtggagcgggcccagagcgagtatagccggctgcgagccctgggcgaggaggtgacccgggaccaggctgacccccagtgcctcttcctacgacagcgactggaggccctgggaactggctgggaggagctgggccgaatgtgggagagccggcaaggtcgcctggcccaggcccacggcttccagggattcctgcgggatgctcgtcaggctgagggcgtgctcagcagccaggaatatgttctgtctcacacggagatgccagggacactccaggctgctgatgctgccattaaaaaactggaggacttcatgagcaccatggacgccaatggggaacggatccacgggctcctggaggctggccgccagctggtatctgaaggcaacatccacgccgacaagattcgggaaaaggcagactccattgagaggaggcacaagaagaatcaagacgcagcgcagcaatttctgggccgtcttcgggacaaccgggagcagcagcatttcctgcaagattgtcacgagctgaagctctggatcgacgagaagatgctgacagcccaggacgtgtcctatgacgaggcccgcaacctgcatactaagtggcagaagcaccaggcattcatggccgagctggctgccaacaaagactggctggacaaggtggacaaggaagggcgagagctcacccttgagaagccagagctgaaagccctggtgtcggagaagctgagagacctgcacaggcgctgggacgagctggagaccaccacccaagccaaggcccgcagcctctttgatgccaaccgagctgagctgtttgcccagagctgctgtgccctggagagctggctggagagcctgcaggcccagctgcactcggatgactacggcaaggacctcaccagcgtcaacatcctgctcaagaagcagcagatgctggaatgggagatggctgtgagagagaaggaggtggaggcaatccaggcccaggccaaagcactggcccaggaggaccagggtgcaggggaggtggagagaacctcgagggccgtggaggagaagttcagggccttgtgccagcccatgcgggaacgctgccggcgcctgcaggcttctcgcgagcagcaccagttccaccgcgatgtggaagatgagattttgtgggtgacagagcggctgcccatggccagctccatggagcatggcaaggacctgcccagcgtccagcttctcatgaagaaaaaccagaccctgcagaaagagattcagggccatgagccccggatcgcggacctgagggagcggcagcgtgctctaggtgcagcagcagcaggtccagagctggctgagctgcaggaaatgtggaaacgcctgggccacgagctggaacttcgagggaagcgactggaggatgccctgcgagcccagcagttctaccgcgatgccgccgaggcggaggcctggatgggcgagcaggaattacacatgatgggccaggagaaggccaaggatgagctgagtgcccaggcagaggtgaagaagcaccaggtgctggagcaagccctggccgactacgcgcagaccatccaccagctggcggccagcagccaggacatgattgaccacgagcacccagagagcactcggatatccatccgccaagcccaggtggacaagctgtatgccggcctgaaggagctggctggagagcggcgggagcgcctgcaggagcacctccggctgtgccagctccgccgcgagctggatgacctggaacagtggatccaggagcgcgaggtggtggcggcctcccacgagctgggccaggactacgagcatgtgactatgctccgagacaaattccgagagttctcccgggacacaagcaccatcggtcaggagcgcgtagatagcgccaatgcgctggccaatgggctcattgctgggggccatgctgcacgggccaccgtggccgagtggaaggacagtctcaacgaggcctgggctgacctgcttgagctgctggacacacggggtcaggtgctggccgcggcgtacgagctgcagcgcttcctgcacggggcacgccaagccctggcgcgggtgcagcacaagcagcagcagcttccggacgggactggccgcgacctcaacgctgccgaggccctgcagcgccgacactgtgcctacgagcatgacattcaggccctcagcccccaggtccagcaggtgcaggacgacggccaccggctccagaaggcctacgctggagacaaggctgaggagatcggccgccacatgcaggccgtggccgaggcctgggcccagcttcagggaagctctgccgcccgccggcagctgctgctggacaccacagacaagttccgcttcttcaaggctgtccgggaactgatgctctggatggatgaggtcaacctgcagatggatgcccaggagcgtccccgggatgtgtcctccgcggatctagtcatcaagaaccagcaaggcatcaaggcagagatagaggcccgggcagaccgcttctcctcctgcatcgacatggggaaggagctgctggccaggagccactatgcggccgaggagatctcagagaagctgtctcagctgcaggcacggcgccaggagacagctgagaagtggcaggagaagatggactggcttcagctggttttggaggtgcttgtgtttggaagagatgcagggatggcagaggcctggctctgcagccaggagccactggtgcgcagcgctgagctgggttgcacggtcgacgaagttgagagcctcatcaagcggcacgaggccttccagaagtcagcagtggcctgggaggagcgattctgtgcgctggagaagcttactgcgctagaggagcgggagaaggagcgaaagagaaagagggaggaggaggagcggcggaaacagccgcctgctcccgaacccacagccagtgtgcctccaggggacctggtgggcggccagacagcttctgacaccacctgggacggaacccagccacggccaccaccatccacacaagcacccagtgttaatggagtctgcacagatggagagccctcacagcccctgctgggacaacagagacttgagcacagcagcttccccgaagggccgggacctggctcaggggacgaagccaatgggccccggggagagaggcagacccggactcggggcccggccccatctgcaatgccccagagcaggtctaccgagtcagcccatgctgccaccctgccgcctcgaggcccagagccatctgcccaggagcagatggaggggatgctgtgccgcaagcaggagatggaggccttcgggaagaaggctgccaacaggtcctggcagaacgtgtactgtgtcctgcggcgtgggagcctcggcttttacaaggatgccaaggcagccagcgcgggagtgccataccacggagaagtgcctgtcagcctggccagggcccagggcagcgtcgcctttgattaccgaaagcgcaaacatgtcttcaagctgggcttacaggatggaaaagaatatttattccaggccaaggatgaggcagagatgagctcgtggctacgggtggtgaatgcagccattgccacagcgtcttctgcctctggagagcctgaagagccggtggtgcccagcaccacccggggcatgacccgggccatgaccatgcccccagtgtcacccgtcggggctgaggggcctgttgtgctccgcagcaaagacggcagagaacgagagcgagaaaaacgcttcagcttctttaagaagaacaagtagttgggggcaaggtcccaggccaactccctccctccgttcaggaaactgccagggacagtcgacagggaccgccctcttgtcaggacaactgcctgctgctagggtctgttgccaaggtcaacccatcaccaggaactgtcactggggacgagtccatgttcccaagggcagcccttctcttctgctgtttaattccagactggtggtgggacccaggtaaccccctctcccacccccgccgacttctcccctttccccagcctcgtgcctctgtccctcaccacggtgtggacagtgccgcaccctcaacataggccatgtggggagtggctgcccctgcctcagggtcattctcctgccatgcgagggcactcgccttctgccttctggttcctcacccctcagaccagccaggaacctctcagagctgaagcaggccctgggggcagaagtgccagatgacagtcagaggcgcaggagccctccctccccacccccaccctgtaactccagctgccactccatctccagctgctctcaatggcttccaggtgtgttgttcggggacagccaccgccttgagtctggccaaggaggtgattaaacagctcagcttctctcaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:6712 -> Molecular function: GO:0003779 [actin binding] evidence: IEA
GeneID:6712 -> Molecular function: GO:0005200 [structural constituent of cytoskeleton] evidence: TAS
GeneID:6712 -> Molecular function: GO:0005543 [phospholipid binding] evidence: IEA
GeneID:6712 -> Biological process: GO:0007411 [axon guidance] evidence: TAS
GeneID:6712 -> Biological process: GO:0007416 [synapse assembly] evidence: IEA
GeneID:6712 -> Biological process: GO:0008219 [cell death] evidence: IEA
GeneID:6712 -> Biological process: GO:0016192 [vesicle-mediated transport] evidence: IDA
GeneID:6712 -> Biological process: GO:0019886 [antigen processing and presentation of exogenous peptide antigen via MHC class II] evidence: TAS
GeneID:6712 -> Biological process: GO:0021692 [cerebellar Purkinje cell layer morphogenesis] evidence: IEA
GeneID:6712 -> Biological process: GO:0030534 [adult behavior] evidence: IEA
GeneID:6712 -> Biological process: GO:0035264 [multicellular organism growth] evidence: IEA
GeneID:6712 -> Biological process: GO:0051693 [actin filament capping] evidence: IEA
GeneID:6712 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
GeneID:6712 -> Cellular component: GO:0008091 [spectrin] evidence: IDA
GeneID:6712 -> Cellular component: GO:0043025 [neuronal cell body] evidence: IEA
by
@meso_cacase at
DBCLS
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