• Gene id: 6712

Gene Summary

• Gene Symbol: SPTBN2   Gene   UCSC   Ensembl
• Aliases: GTRAP41, SCA5, SCAR14
• Gene name: spectrin beta, non-erythrocytic 2
• Alternate names: spectrin beta chain, non-erythrocytic 2, beta-III spectrin, glutamate transporter EAAT4-associated protein 41, spectrin beta III sigma 2, spectrin beta chain, brain 2, spectrin, non-erythroid beta chain 2, spinocerebellar ataxia 5 protein,
• Gene location: 11q13.2 (66729360: 66682495)     Exons: 16     NC_000011.10
• Gene summary(Entrez): 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
• OMIM: 604985

Protein Summary

• Protein general information: O15020  
  • Name: Spectrin beta chain, non erythrocytic 2 (Beta III spectrin) (Spinocerebellar ataxia 5 protein)
  • Length: 2390  
  • Mass: 271325
  • Tissue specificity: Highly expressed in brain, kidney, pancreas, and liver, and at lower levels in lung and placenta.
• Sequence:

  MSSTLSPTDFDSLEIQGQYSDINNRWDLPDSDWDNDSSSARLFERSRIKALADEREAVQKKTFTKWVNSHLARVT
  CRVGDLYSDLRDGRNLLRLLEVLSGEILPKPTKGRMRIHCLENVDKALQFLKEQKVHLENMGSHDIVDGNHRLTL
  GLVWTIILRFQIQDISVETEDNKEKKSAKDALLLWCQMKTAGYPNVNVHNFTTSWRDGLAFNAIVHKHRPDLLDF
  ESLKKCNAHYNLQNAFNLAEKELGLTKLLDPEDVNVDQPDEKSIITYVATYYHYFSKMKALAVEGKRIGKVLDHA
  MEAERLVEKYESLASELLQWIEQTIVTLNDRQLANSLSGVQNQLQSFNSYRTVEKPPKFTEKGNLEVLLFTIQSK
  LRANNQKVYTPREGRLISDINKAWERLEKAEHERELALRTELIRQEKLEQLAARFDRKAAMRETWLSENQRLVSQ
  DNFGLELAAVEAAVRKHEAIETDIVAYSGRVQAVDAVAAELAAERYHDIKRIAARQHNVARLWDFLRQMVAARRE
  RLLLNLELQKVFQDLLYLMDWMEEMKGRLQSQDLGRHLAGVEDLLQLHELVEADIAVQAERVRAVSASALRFCNP
  GKEYRPCDPQLVSERVAKLEQSYEALCELAAARRARLEESRRLWRFLWEVGEAEAWVREQQHLLASADTGRDLTG
  ALRLLNKHTALRGEMSGRLGPLKLTLEQGQQLVAEGHPGASQASARAAELQAQWERLEALAEERAQRLAQAASLY
  QFQADANDMEAWLVDALRLVSSPELGHDEFSTQALARQHRALEEEIRSHRPTLDALREQAAALPPTLSRTPEVQS
  RVPTLERHYEELQARAGERARALEAALALYTMLSEAGACGLWVEEKEQWLNGLALPERLEDLEVVQQRFETLEPE
  MNTLAAQITAVNDIAEQLLKANPPGKDRIVNTQEQLNHRWQQFRRLADGKKAALTSALSIQNYHLECTETQAWMR
  EKTKVIESTQGLGNDLAGVLALQRKLAGTERDLEAIAARVGELTREANALAAGHPAQAVAINARLREVQTGWEDL
  RATMRRREESLGEARRLQDFLRSLDDFQAWLGRTQTAVASEEGPATLPEAEALLAQHAALRGEVERAQSEYSRLR
  ALGEEVTRDQADPQCLFLRQRLEALGTGWEELGRMWESRQGRLAQAHGFQGFLRDARQAEGVLSSQEYVLSHTEM
  PGTLQAADAAIKKLEDFMSTMDANGERIHGLLEAGRQLVSEGNIHADKIREKADSIERRHKKNQDAAQQFLGRLR
  DNREQQHFLQDCHELKLWIDEKMLTAQDVSYDEARNLHTKWQKHQAFMAELAANKDWLDKVDKEGRELTLEKPEL
  KALVSEKLRDLHRRWDELETTTQAKARSLFDANRAELFAQSCCALESWLESLQAQLHSDDYGKDLTSVNILLKKQ
  QMLEWEMAVREKEVEAIQAQAKALAQEDQGAGEVERTSRAVEEKFRALCQPMRERCRRLQASREQHQFHRDVEDE
  ILWVTERLPMASSMEHGKDLPSVQLLMKKNQTLQKEIQGHEPRIADLRERQRALGAAAAGPELAELQEMWKRLGH
  ELELRGKRLEDALRAQQFYRDAAEAEAWMGEQELHMMGQEKAKDELSAQAEVKKHQVLEQALADYAQTIHQLAAS
  SQDMIDHEHPESTRISIRQAQVDKLYAGLKELAGERRERLQEHLRLCQLRRELDDLEQWIQEREVVAASHELGQD
  YEHVTMLRDKFREFSRDTSTIGQERVDSANALANGLIAGGHAARATVAEWKDSLNEAWADLLELLDTRGQVLAAA
  YELQRFLHGARQALARVQHKQQQLPDGTGRDLNAAEALQRRHCAYEHDIQALSPQVQQVQDDGHRLQKAYAGDKA
  EEIGRHMQAVAEAWAQLQGSSAARRQLLLDTTDKFRFFKAVRELMLWMDEVNLQMDAQERPRDVSSADLVIKNQQ
  GIKAEIEARADRFSSCIDMGKELLARSHYAAEEISEKLSQLQARRQETAEKWQEKMDWLQLVLEVLVFGRDAGMA
  EAWLCSQEPLVRSAELGCTVDEVESLIKRHEAFQKSAVAWEERFCALEKLTALEEREKERKRKREEEERRKQPPA
  PEPTASVPPGDLVGGQTASDTTWDGTQPRPPPSTQAPSVNGVCTDGEPSQPLLGQQRLEHSSFPEGPGPGSGDEA
  NGPRGERQTRTRGPAPSAMPQSRSTESAHAATLPPRGPEPSAQEQMEGMLCRKQEMEAFGKKAANRSWQNVYCVL
  RRGSLGFYKDAKAASAGVPYHGEVPVSLARAQGSVAFDYRKRKHVFKLGLQDGKEYLFQAKDEAEMSSWLRVVNA
  AIATASSASGEPEEPVVPSTTRGMTRAMTMPPVSPVGAEGPVVLRSKDGREREREKRFSFFKKNK

• Structural information:
  • Protein Domains: (57..16-)
    1 (/note="Calponin-homology-(CH))
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00044-)
    (176..28-)
    2 (/note="Calponin-homology-(CH))
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00044-)
    (2218..232-)
    (/note="PH-)
    (/evidence="ECO:00-)
  • Interpro: IPR001589  IPR001715  IPR036872  IPR011993  IPR041681   IPR001605  IPR001849  IPR018159  IPR016343  IPR002017  
  • Prosite: PS00019 PS00020 PS50021 PS50003
  • CDD: cd00014
  • PDB: 1WJM 1WYQ 6ANU
  • PDBsum: 1WJM 1WYQ 6ANU
  • DIP: 47270
  • STRING: ENSP00000432568
• Other Databases: GeneCards:  SPTBN2  Malacards:  SPTBN2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003779	actin binding	IEA	molecular function
GO:0008091	spectrin	IEA	cellular component
GO:0005200	structural constituent of cytoskeleton	IEA	molecular function
GO:0005543	phospholipid binding	IEA	molecular function
GO:0003779	actin binding	IEA	molecular function
GO:0051693	actin filament capping	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0003779	actin binding	TAS	molecular function
GO:0005200	structural constituent of cytoskeleton	TAS	molecular function
GO:0008091	spectrin	TAS	cellular component
GO:0000165	MAPK cascade	TAS	biological process
GO:0006888	endoplasmic reticulum to Golgi vesicle-mediated transport	TAS	biological process
GO:0007411	axon guidance	TAS	biological process
GO:0019886	antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0098918	structural constituent of synapse	IEA	molecular function
GO:0098688	parallel fiber to Purkinje cell synapse	IEA	cellular component
GO:0099189	postsynaptic spectrin-associated cytoskeleton	IEA	cellular component
GO:0099173	postsynapse organization	IEA	biological process
GO:0098793	presynapse	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0035264	multicellular organism growth	IEA	biological process
GO:0030534	adult behavior	IEA	biological process
GO:0021692	cerebellar Purkinje cell layer morphogenesis	IEA	biological process
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0007416	synapse assembly	IEA	biological process
GO:0045296	cadherin binding	HDA	molecular function
GO:0005938	cell cortex	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0007010	cytoskeleton organization	IEA	biological process
GO:0007010	cytoskeleton organization	IEA	biological process
GO:0007010	cytoskeleton organization	IEA	biological process
GO:0016192	vesicle-mediated transport	IDA	biological process
GO:0008091	spectrin	IDA	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0005200	structural constituent of cytoskeleton	TAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05017	Spinocerebellar ataxia

Diseases

Associated diseases	References
Spinocerebellar ataxia	KEGG:H00063
Autosomal recessive spinocerebellar ataxias	KEGG:H01891
Spinocerebellar ataxia	KEGG:H00063
Autosomal recessive spinocerebellar ataxias	KEGG:H01891
Cryptorchidism	MIK: 28606200
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq