Spectrin beta chain, brain 2 - Homo sapiens (Human)

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Alternative products

Sequence annotation (Features)

Sequences

References

Web resources

Cross-references

Entry information

Molecule processing

Regions

Amino acid modifications

Natural variations

Secondary structure

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Proteomic databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Gene expression databases

Family and domain databases

Other Resources

Protein names

Recommended name:
    Spectrin beta chain, brain 2
Alternative name(s):
    Spectrin, non-erythroid beta chain 2
    Beta-III spectrin

Gene names

Name:	SPTBN2
Synonyms:	KIAA0302

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Sequence length	2390 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

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Function	Probably plays an important role in neuronal membrane skeleton.
Subcellular location	Cytoplasm › cytoskeleton. Cytoplasm › cell cortex.
Tissue specificity	Highly expressed in brain, kidney, pancreas, and liver, and at lower levels in lung and placenta.
Involvement in disease	Defects in SPTBN2 are the cause of spinocerebellar ataxia type 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. Ref.10
Sequence similarities	Belongs to the spectrin family. Contains 2 CH (calponin-homology) domains. Contains 1 PH domain. Contains 17 spectrin repeats.

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Keywords
Cellular component	Cytoplasm Cytoskeleton
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation Neurodegeneration Spinocerebellar ataxia
Domain	Repeat
Ligand	Actin-binding
Molecular function	Actin capping
PTM	Phosphoprotein
Technical term	3D-structure Complete proteome
Gene Ontology (GO)
Biological process	actin filament capping Inferred from electronic annotation. Source: UniProtKB-KW cell death Inferred from electronic annotation. Source: UniProtKB-KW vesicle-mediated transport Ref.2 Inferred from direct assay. Source: UniProtKB
Cellular component	spectrin Ref.2 Inferred from direct assay. Source: UniProtKB
Molecular function	actin binding Ref.2 Traceable author statement. Source: ProtInc structural constituent of cytoskeleton Ref.2 Traceable author statement. Source: UniProtKB
Complete GO annotation...

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Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Chain

1 – 2390

2390

Spectrin beta chain, brain 2

PRO_0000073463

Domain

1 – 278

278

Actin-binding

Domain

57 – 161

105

CH 1

Domain

176 – 278

103

CH 2

Repeat

305 – 415

111

Spectrin 1

Repeat

425 – 529

105

Spectrin 2

Repeat

531 – 639

109

Spectrin 3

Repeat

641 – 745

105

Spectrin 4

Repeat

747 – 850

104

Spectrin 5

Repeat

852 – 956

105

Spectrin 6

Repeat

958 – 1063

106

Spectrin 7

Repeat

1065 – 1170

106

Spectrin 8

Repeat

1172 – 1276

105

Spectrin 9

Repeat

1278 – 1381

104

Spectrin 10

Repeat

1383 – 1486

104

Spectrin 11

Repeat

1488 – 1586

99

Spectrin 12

Repeat

1588 – 1692

105

Spectrin 13

Repeat

1694 – 1799

106

Spectrin 14

Repeat

1801 – 1905

105

Spectrin 15

Repeat

1907 – 2011

105

Spectrin 16

Repeat

2013 – 2075

63

Spectrin 17

Domain

2218 – 2328

111

PH

Modified residue

2171

1

Phosphoserine Ref.4 Ref.6

Modified residue

2199

1

Phosphoserine By similarity

Modified residue

2354

1

Phosphothreonine By similarity

Modified residue

2359

1

Phosphoserine Ref.6 Ref.5

Alternative sequence

2314 – 2390

77

AEMSS…FKKNK → VSCPSCSSLSVPFQKLPAAD SPSFPVLPLFPGLVLCGKTG CVRRPHQAALPV in isoform 2.

VSP_000722

Natural variant

253

1

L → P in SCA5. Ref.10

VAR_026767

Natural variant

532 – 544

13

Missing in SCA5.

VAR_026768

Natural variant

629 – 634

6

LAAARR → W in SCA5.

VAR_026769

Natural variant

774

1

E → K in a colorectal cancer sample; somatic mutation. Ref.11

VAR_035458

Natural variant

825

1

G → S: dbSNP rs4930388.

VAR_026770

Natural variant

835

1

E → K: dbSNP rs36054877.

VAR_048631

Natural variant

1034

1

V → A: dbSNP rs506028.

VAR_026771

1

.

2390

Helix Strand Turn

Details...

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Sequence		Length	Mass (Da)
Isoform 1 [UniParc]. Last modified January 1, 1999. Version 2. Checksum: E8C3033DD25A674C Show »	FASTA	2,390	271,295
10 20 30 40 50 60 MSSTLSPTDF DSLEIQGQYS DINNRWDLPD SDWDNDSSSA RLFERSRIKA LADEREAVQK 70 80 90 100 110 120 KTFTKWVNSH LARVTCRVGD LYSDLRDGRN LLRLLEVLSG EILPKPTKGR MRIHCLENVD 130 140 150 160 170 180 KALQFLKEQK VHLENMGSHD IVDGNHRLTL GLVWTIILRF QIQDISVETE DNKEKKSAKD 190 200 210 220 230 240 ALLLWCQMKT AGYPNVNVHN FTTSWRDGLA FNAIVHKHRP DLLDFESLKK CNAHYNLQNA 250 260 270 280 290 300 FNLAEKELGL TKLLDPEDVN VDQPDEKSII TYVATYYHYF SKMKALAVEG KRIGKVLDHA 310 320 330 340 350 360 MEAERLVEKY ESLASELLQW IEQTIVTLND RQLANSLSGV QNQLQSFNSY RTVEKPPKFT 370 380 390 400 410 420 EKGNLEVLLF TIQSKLRANN QKVYTPREGR LISDINKAWE RLEKAEHERE LALRTELIRQ 430 440 450 460 470 480 EKLEQLAARF DRKAAMRETW LSENQRLVSQ DNFGLELAAV EAAVRKHEAI ETDIVAYSGR 490 500 510 520 530 540 VQAVDAVAAE LAAERYHDIK RIAARQHNVA RLWDFLRQMV AARRERLLLN LELQKVFQDL 550 560 570 580 590 600 LYLMDWMEEM KGRLQSQDLG RHLAGVEDLL QLHELVEADI AVQAERVRAV SASALRFCNP 610 620 630 640 650 660 GKEYRPCDPQ LVSERVAKLE QSYEALCELA AARRARLEES RRLWRFLWEV GEAEAWVREQ 670 680 690 700 710 720 QHLLASADTG RDLTGALRLL NKHTALRGEM SGRLGPLKLT LEQGQQLVAE GHPGASQASA 730 740 750 760 770 780 RAAELQAQWE RLEALAEERA QRLAQAASLY QFQADANDME AWLVDALRLV SSPELGHDEF 790 800 810 820 830 840 STQALARQHR ALEEEIRSHR PTLDALREQA AALPPTLSRT PEVQGRVPTL ERHYEELQAR 850 860 870 880 890 900 AGERARALEA ALALYTMLSE AGACGLWVEE KEQWLNGLAL PERLEDLEVV QQRFETLEPE 910 920 930 940 950 960 MNTLAAQITA VNDIAEQLLK ANPPGKDRIV NTQEQLNHRW QQFRRLADGK KAALTSALSI 970 980 990 1000 1010 1020 QNYHLECTET QAWMREKTKV IESTQGLGND LAGVLALQRK LAGTERDLEA IAARVGELTR 1030 1040 1050 1060 1070 1080 EANALAAGHP AQAVAINARL REVQTGWEDL RATMRRREES LGEARRLQDF LRSLDDFQAW 1090 1100 1110 1120 1130 1140 LGRTQTAVAS EEGPATLPEA EALLAQHAAL RGEVERAQSE YSRLRALGEE VTRDQADPQC 1150 1160 1170 1180 1190 1200 LFLRQRLEAL GTGWEELGRM WESRQGRLAQ AHGFQGFLRD ARQAEGVLSS QEYVLSHTEM 1210 1220 1230 1240 1250 1260 PGTLQAADAA IKKLEDFMST MDANGERIHG LLEAGRQLVS EGNIHADKIR EKADSIERRH 1270 1280 1290 1300 1310 1320 KKNQDAAQQF LGRLRDNREQ QHFLQDCHEL KLWIDEKMLT AQDVSYDEAR NLHTKWQKHQ 1330 1340 1350 1360 1370 1380 AFMAELAANK DWLDKVDKEG RELTLEKPEL KALVSEKLRD LHRRWDELET TTQAKARSLF 1390 1400 1410 1420 1430 1440 DANRAELFAQ SCCALESWLE SLQAQLHSDD YGKDLTSVNI LLKKQQMLEW EMAVREKEVE 1450 1460 1470 1480 1490 1500 AIQAQAKALA QEDQGAGEVE RTSRAVEEKF RALCQPMRER CRRLQASREQ HQFHRDVEDE 1510 1520 1530 1540 1550 1560 ILWVTERLPM ASSMEHGKDL PSVQLLMKKN QTLQKEIQGH EPRIADLRER QRALGAAAAG 1570 1580 1590 1600 1610 1620 PELAELQEMW KRLGHELELR GKRLEDALRA QQFYRDAAEA EAWMGEQELH MMGQEKAKDE 1630 1640 1650 1660 1670 1680 LSAQAEVKKH QVLEQALADY AQTIHQLAAS SQDMIDHEHP ESTRISIRQA QVDKLYAGLK 1690 1700 1710 1720 1730 1740 ELAGERRERL QEHLRLCQLR RELDDLEQWI QEREVVAASH ELGQDYEHVT MLRDKFREFS 1750 1760 1770 1780 1790 1800 RDTSTIGQER VDSANALANG LIAGGHAARA TVAEWKDSLN EAWADLLELL DTRGQVLAAA 1810 1820 1830 1840 1850 1860 YELQRFLHGA RQALARVQHK QQQLPDGTGR DLNAAEALQR RHCAYEHDIQ ALSPQVQQVQ 1870 1880 1890 1900 1910 1920 DDGHRLQKAY AGDKAEEIGR HMQAVAEAWA QLQGSSAARR QLLLDTTDKF RFFKAVRELM 1930 1940 1950 1960 1970 1980 LWMDEVNLQM DAQERPRDVS SADLVIKNQQ GIKAEIEARA DRFSSCIDMG KELLARSHYA 1990 2000 2010 2020 2030 2040 AEEISEKLSQ LQARRQETAE KWQEKMDWLQ LVLEVLVFGR DAGMAEAWLC SQEPLVRSAE 2050 2060 2070 2080 2090 2100 LGCTVDEVES LIKRHEAFQK SAVAWEERFC ALEKLTALEE REKERKRKRE EEERRKQPPA 2110 2120 2130 2140 2150 2160 PEPTASVPPG DLVGGQTASD TTWDGTQPRP PPSTQAPSVN GVCTDGEPSQ PLLGQQRLEH 2170 2180 2190 2200 2210 2220 SSFPEGPGPG SGDEANGPRG ERQTRTRGPA PSAMPQSRST ESAHAATLPP RGPEPSAQEQ 2230 2240 2250 2260 2270 2280 MEGMLCRKQE MEAFGKKAAN RSWQNVYCVL RRGSLGFYKD AKAASAGVPY HGEVPVSLAR 2290 2300 2310 2320 2330 2340 AQGSVAFDYR KRKHVFKLGL QDGKEYLFQA KDEAEMSSWL RVVNAAIATA SSASGEPEEP 2350 2360 2370 2380 2390 VVPSTTRGMT RAMTMPPVSP VGAEGPVVLR SKDGRERERE KRFSFFKKNK « Hide
Isoform 2. Checksum: F439E05A5215BB32 Show »	FASTA	2,365	268,279
10 20 30 40 50 60 MSSTLSPTDF DSLEIQGQYS DINNRWDLPD SDWDNDSSSA RLFERSRIKA LADEREAVQK 70 80 90 100 110 120 KTFTKWVNSH LARVTCRVGD LYSDLRDGRN LLRLLEVLSG EILPKPTKGR MRIHCLENVD 130 140 150 160 170 180 KALQFLKEQK VHLENMGSHD IVDGNHRLTL GLVWTIILRF QIQDISVETE DNKEKKSAKD 190 200 210 220 230 240 ALLLWCQMKT AGYPNVNVHN FTTSWRDGLA FNAIVHKHRP DLLDFESLKK CNAHYNLQNA 250 260 270 280 290 300 FNLAEKELGL TKLLDPEDVN VDQPDEKSII TYVATYYHYF SKMKALAVEG KRIGKVLDHA 310 320 330 340 350 360 MEAERLVEKY ESLASELLQW IEQTIVTLND RQLANSLSGV QNQLQSFNSY RTVEKPPKFT 370 380 390 400 410 420 EKGNLEVLLF TIQSKLRANN QKVYTPREGR LISDINKAWE RLEKAEHERE LALRTELIRQ 430 440 450 460 470 480 EKLEQLAARF DRKAAMRETW LSENQRLVSQ DNFGLELAAV EAAVRKHEAI ETDIVAYSGR 490 500 510 520 530 540 VQAVDAVAAE LAAERYHDIK RIAARQHNVA RLWDFLRQMV AARRERLLLN LELQKVFQDL 550 560 570 580 590 600 LYLMDWMEEM KGRLQSQDLG RHLAGVEDLL QLHELVEADI AVQAERVRAV SASALRFCNP 610 620 630 640 650 660 GKEYRPCDPQ LVSERVAKLE QSYEALCELA AARRARLEES RRLWRFLWEV GEAEAWVREQ 670 680 690 700 710 720 QHLLASADTG RDLTGALRLL NKHTALRGEM SGRLGPLKLT LEQGQQLVAE GHPGASQASA 730 740 750 760 770 780 RAAELQAQWE RLEALAEERA QRLAQAASLY QFQADANDME AWLVDALRLV SSPELGHDEF 790 800 810 820 830 840 STQALARQHR ALEEEIRSHR PTLDALREQA AALPPTLSRT PEVQGRVPTL ERHYEELQAR 850 860 870 880 890 900 AGERARALEA ALALYTMLSE AGACGLWVEE KEQWLNGLAL PERLEDLEVV QQRFETLEPE 910 920 930 940 950 960 MNTLAAQITA VNDIAEQLLK ANPPGKDRIV NTQEQLNHRW QQFRRLADGK KAALTSALSI 970 980 990 1000 1010 1020 QNYHLECTET QAWMREKTKV IESTQGLGND LAGVLALQRK LAGTERDLEA IAARVGELTR 1030 1040 1050 1060 1070 1080 EANALAAGHP AQAVAINARL REVQTGWEDL RATMRRREES LGEARRLQDF LRSLDDFQAW 1090 1100 1110 1120 1130 1140 LGRTQTAVAS EEGPATLPEA EALLAQHAAL RGEVERAQSE YSRLRALGEE VTRDQADPQC 1150 1160 1170 1180 1190 1200 LFLRQRLEAL GTGWEELGRM WESRQGRLAQ AHGFQGFLRD ARQAEGVLSS QEYVLSHTEM 1210 1220 1230 1240 1250 1260 PGTLQAADAA IKKLEDFMST MDANGERIHG LLEAGRQLVS EGNIHADKIR EKADSIERRH 1270 1280 1290 1300 1310 1320 KKNQDAAQQF LGRLRDNREQ QHFLQDCHEL KLWIDEKMLT AQDVSYDEAR NLHTKWQKHQ 1330 1340 1350 1360 1370 1380 AFMAELAANK DWLDKVDKEG RELTLEKPEL KALVSEKLRD LHRRWDELET TTQAKARSLF 1390 1400 1410 1420 1430 1440 DANRAELFAQ SCCALESWLE SLQAQLHSDD YGKDLTSVNI LLKKQQMLEW EMAVREKEVE 1450 1460 1470 1480 1490 1500 AIQAQAKALA QEDQGAGEVE RTSRAVEEKF RALCQPMRER CRRLQASREQ HQFHRDVEDE 1510 1520 1530 1540 1550 1560 ILWVTERLPM ASSMEHGKDL PSVQLLMKKN QTLQKEIQGH EPRIADLRER QRALGAAAAG 1570 1580 1590 1600 1610 1620 PELAELQEMW KRLGHELELR GKRLEDALRA QQFYRDAAEA EAWMGEQELH MMGQEKAKDE 1630 1640 1650 1660 1670 1680 LSAQAEVKKH QVLEQALADY AQTIHQLAAS SQDMIDHEHP ESTRISIRQA QVDKLYAGLK 1690 1700 1710 1720 1730 1740 ELAGERRERL QEHLRLCQLR RELDDLEQWI QEREVVAASH ELGQDYEHVT MLRDKFREFS 1750 1760 1770 1780 1790 1800 RDTSTIGQER VDSANALANG LIAGGHAARA TVAEWKDSLN EAWADLLELL DTRGQVLAAA 1810 1820 1830 1840 1850 1860 YELQRFLHGA RQALARVQHK QQQLPDGTGR DLNAAEALQR RHCAYEHDIQ ALSPQVQQVQ 1870 1880 1890 1900 1910 1920 DDGHRLQKAY AGDKAEEIGR HMQAVAEAWA QLQGSSAARR QLLLDTTDKF RFFKAVRELM 1930 1940 1950 1960 1970 1980 LWMDEVNLQM DAQERPRDVS SADLVIKNQQ GIKAEIEARA DRFSSCIDMG KELLARSHYA 1990 2000 2010 2020 2030 2040 AEEISEKLSQ LQARRQETAE KWQEKMDWLQ LVLEVLVFGR DAGMAEAWLC SQEPLVRSAE 2050 2060 2070 2080 2090 2100 LGCTVDEVES LIKRHEAFQK SAVAWEERFC ALEKLTALEE REKERKRKRE EEERRKQPPA 2110 2120 2130 2140 2150 2160 PEPTASVPPG DLVGGQTASD TTWDGTQPRP PPSTQAPSVN GVCTDGEPSQ PLLGQQRLEH 2170 2180 2190 2200 2210 2220 SSFPEGPGPG SGDEANGPRG ERQTRTRGPA PSAMPQSRST ESAHAATLPP RGPEPSAQEQ 2230 2240 2250 2260 2270 2280 MEGMLCRKQE MEAFGKKAAN RSWQNVYCVL RRGSLGFYKD AKAASAGVPY HGEVPVSLAR 2290 2300 2310 2320 2330 2340 AQGSVAFDYR KRKHVFKLGL QDGKEYLFQA KDEVSCPSCS SLSVPFQKLP AADSPSFPVL 2350 2360 PLFPGLVLCG KTGCVRRPHQ AALPV « Hide

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	« Hide 'large scale' referencesShow 'large scale' references »
[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: 9205841] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain.
[2]	"A widely expressed betaIII spectrin associated with Golgi and cytoplasmic vesicles." Stankewich M.C., Tse W.T., Peters L.L., Ch'ng Y., John K.M., Stabach P.R., Devarajan P., Morrow J.S., Lux S.E. Proc. Natl. Acad. Sci. U.S.A. 95:14158-14163(1998) [PubMed: 9826670] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-34. Tissue: Brain.
[3]	"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.
[4]	"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: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2171, MASS SPECTROMETRY. Tissue: Epithelium.
[5]	"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle." Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M. Mol. Cell 31:438-448(2008) [PubMed: 18691976] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2359, MASS SPECTROMETRY.
[6]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2171 AND SER-2359, MASS SPECTROMETRY.
[7]	Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
[8]	"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.
[9]	"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.
[10]	"Spectrin mutations cause spinocerebellar ataxia type 5." Ikeda Y., Dick K.A., Weatherspoon M.R., Gincel D., Armbrust K.R., Dalton J.C., Stevanin G., Duerr A., Zuehlke C., Buerk K., Clark H.B., Brice A., Rothstein J.D., Schut L.J., Day J.W., Ranum L.P.W. Nat. Genet. 38:184-190(2006) [PubMed: 16429157] [Abstract] Cited for: VARIANTS SCA5 PRO-253; 532-GLU--MET-544 DEL AND 629-LEU--ARG-634 DELINS TRP.
[11]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. Velculescu V.E. Science 314:268-274(2006) [PubMed: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] LYS-774.
+	Additional computationally mapped references.

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GeneReviews

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AB008567 mRNA. Translation: BAA32700.2. Different initiation.
AF079569 mRNA. Translation: AAC80006.1.
AF026487 mRNA. Translation: AAC79502.1.
AF026488 mRNA. Translation: AAC79503.1.
AF026488 mRNA. Translation: AAC79504.1.

IPI

IPI00012645.
IPI00218207.

RefSeq

NP_008877.1.

UniGene

Hs.26915

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1WJM	NMR	-	A	2219-2328	[»]
1WYQ	NMR	-	A	178-291	[»]

SMR

O15020. Positions 2212-2333.

ModBase

Search...

IntAct

O15020. 1 interaction.

STRING

O15020.

PhosphoSite

O15020.

PRIDE

O15020.

Ensembl

ENST00000309996; ENSP00000311489; ENSG00000173898; Homo sapiens. [Genome view]
ENST00000443262; ENSP00000403047; ENSG00000173898; Homo sapiens. [Genome view]

GeneID

6712.

KEGG

hsa:6712.

UCSC

uc001ojd.1. human.

CTD

6712.

GeneCards

GC11M066209.

H-InvDB

HIX0021762.

HGNC

HGNC:11276. SPTBN2.

HPA

CAB009844.

MIM

600224. phenotype.
604985. gene.

Orphanet

98766. Ataxia, spinocerebellar, type 5.
99. Autosomal dominant cerebellar ataxia.

PharmGKB

PA36105.

HUGE

Search...

GenAtlas

Search...

HOGENOM

O15020.

HOVERGEN

O15020.

Reactome

REACT_18266. Axon guidance.

ArrayExpress

O15020.

Bgee

O15020.

CleanEx

HS_SPTBN2.

Genevestigator

O15020.

GermOnline

ENSG00000173898. Homo sapiens.

InterPro

IPR001589. Actinin_actin-bd_CS.
IPR001715. Calponin_act_bd.
IPR011993. PH_type.
IPR001849. Pleckstrin_homology.
IPR018159. Spectrin/alpha-actinin.
IPR016343. Spectrin_bsu.
IPR001605. Spectrin_PH.
IPR002017. Spectrin_repeat.
[Graphical view]

Gene3D

G3DSA:1.10.418.10. Calponin-homology. 2 hits.
G3DSA:2.30.29.30. PH_type. 1 hit.

Pfam

PF00307. CH. 2 hits.
PF00169. PH. 1 hit.
PF00435. Spectrin. 17 hits.
[Graphical view]

PIRSF

PIRSF002297. Spectrin_beta_subunit. 1 hit.

PRINTS

PR00683. SPECTRINPH.

SMART

SM00033. CH. 2 hits.
SM00233. PH. 1 hit.
SM00150. SPEC. 17 hits.
[Graphical view]

PROSITE

PS00019. ACTININ_1. 1 hit.
PS00020. ACTININ_2. 1 hit.
PS50021. CH. 2 hits.
PS50003. PH_DOMAIN. 1 hit.
[Graphical view]

ProtoNet

Search...

NextBio

26178.

SOURCE

Search...

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This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: O15020-1)

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.

Isoform 2 (identifier: O15020-2)

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

Entry name

SPTN2_HUMAN

Accession

Primary (citable) accession number: O15020
Secondary accession number(s): O14872, O14873

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 16, 2001
Last sequence update:	January 1, 1999
Last modified:	November 3, 2009
This is version 92 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any 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.

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