• Gene id: 57731

Gene Summary

• Gene Symbol: SPTBN4   Gene   UCSC   Ensembl
• Aliases: CMND, NEDHND, QV, SPNB4, SPTBN3
• Gene name: spectrin beta, non-erythrocytic 4
• Alternate names: spectrin beta chain, non-erythrocytic 4, beta-IV spectrin, spectrin beta chain, brain 3, spectrin, non-erythroid beta chain 3,
• Gene location: 19q13.2 (40467000: 40576463)     Exons: 40     NC_000019.10
• Gene summary(Entrez): Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is compo
• OMIM: 614176

Protein Summary

• Protein general information: Q9H254  
  • Name: Spectrin beta chain, non erythrocytic 4 (Beta IV spectrin) (Spectrin, non erythroid beta chain 3)
  • Length: 2564  
  • Mass: 288985
  • Tissue specificity: Expressed in skeletal muscle at the sarcolemma and in the muscle capillaries (at protein level) (PubMed
• Sequence:

  MAQVPGEVDNMEGLPAPNNNPAARWESPDRGWEREQPAASTAAASLFECSRIKALADEREAVQKKTFTKWVNSHL
  ARVGCHIGDLYVDLRDGFVLTRLLEVLSGEQLPRPTRGRMRIHSLENVDKALQFLKEQRVHLENVGSHDIVDGNH
  RLTLGLVWTIILRFQIQVIKIETEDNRETRSAKDALLLWCQMKTAGYPEVNIQNFTTSWRDGLAFNALIHRHRPD
  LVDFSKLTKSNANYNLQRAFRTAEQHLGLARLLDPEDVNMEAPDEKSIITYVVSFYHYFSKMKALAVEGKRIGKV
  LDQVLEVGKIIERYEELAAELLAWIHRTVGLISNQKFANSLSGVQQQLQAFTAYCTLEKPVKFQEKGNLEVLLFS
  IQSKLRACNRRLFVPREGCGIWDIDKAWGELEKAEHEREAALRAELIRQEKLELLAQRFDHKVAMRESWLNENQR
  LVSQDNFGYELPAVEAAMKKHEAIEADIAAYEERVQGVAELAQALAAEGYYDIRRVAAQRDSVLRQWALLTGLVG
  ARRTRLEQNLALQKVFQEMVYMVDWMEEMQAQLLSRECGQHLVEADDLLQKHGLLEGDIAAQSERVEALNAAALR
  FSQLQGYQPCDPQVICNRVNHVHGCLAELQEQAARRRAELEASRSLWALLQELEEAESWARDKERLLEAAGGGGA
  AGAAGAAGTAGGAHDLSSTARLLAQHKILQGELGGRRALLQQALRCGEELVAAGGAVGPGADTVHLVGLAERAAS
  ARRRWQRLEEAAARRERRLQEARALHQFGADLDGLLDWLRDAYRLAAAGDFGHDEASSRRLARQHRALTGEVEAH
  RGPVSGLRRQLATLGGASGAGPLVVALQVRVVEAEQLFAEVTEVAALRRQWLRDALAVYRMFGEVHACELWIGEK
  EQWLLSMRVPDSLDDVEVVQHRFESLDQEMNSLMGRVLDVNHTVQELVEGGHPSSDEVRSCQDHLNSRWNRIVEL
  VEQRKEEMSAVLLVENHVLEVAEVRAQVREKRRAVESAPRAGGALQWRLSGLEAALQALEPRQAALLEEAALLAE
  RFPAQAARLHQGAEELGAEWGALASAAQACGEAVAAAGRLQRFLHDLDAFLDWLVRAQEAAGGSEGPLPNSLEEA
  DALLARHAALKEEVDQREEDYARIVAASEALLAADGAELGPGLALDEWLPHLELGWHKLLGLWEARREALVQAHI
  YQLFLRDLRQALVVLRNQEMALSGAELPGTVESVEEALKQHRDFLTTMELSQQKMQVAVQAAEGLLRQGNIYGEQ
  AQEAVTRLLEKNQENQLRAQQWMQKLHDQLELQHFLRDCHELDGWIHEKMLMARDGTREDNHKLHKRWLRHQAFM
  AELAQNKEWLEKIEREGQQLMQEKPELAASVRKKLGEIRQCWAELESTTQAKARQLFEASKADQLVQSFAELDKK
  LLHMESQLQDVDPGGDLATVNSQLKKLQSMESQVEEWYREVGELQAQTAALPLEPASKELVGERQNAVGERLVRL
  LEPLQERRRLLLASKELHQVAHDLDDELAWVQERLPLAMQTERGNGLQAVQQHIKKNQGLRREIQAHGPRLEEVL
  ERAGALASLRSPEAEAVRRGLEQLQSAWAGLREAAERRQQVLDAAFQVEQYYFDVAEVEAWLGEQELLMMSEDKG
  KDEQSTLQLLKKHLQLEQGVENYEESIAQLSRQCRALLEMGHPDSEQISRRQSQVDRLYVALKELGEERRVALEQ
  QYWLYQLSRQVSELEHWIAEKEVVAGSPELGQDFEHVSVLQEKFSEFASETGMAGRERLAAVNQMVDELIECGHT
  AAATMAEWKDGLNEAWAELLELMGTRAQLLAASRELHKFFSDARELQGQIEEKRRRLPRLTTPPEPRPSASSMQR
  TLRAFEHDLQLLVSQVRQLQEGAAQLRTVYAGEHAEAIASREQEVLQGWKELLSACEDARLHVSSTADALRFHSQ
  VRDLLSWMDGIASQIGAADKPRDVSSVEVLMNYHQGLKTELEARVPELTTCQELGRSLLLNKSAMADEIQAQLDK
  LGTRKEEVSEKWDRHWEWLQQMLEVHQFAQEAVVADAWLTAQEPLLQSRELGSSVDEVEQLIRRHEAFRKAAAAW
  EERFSSLRRLTTIEKIKAEQSKQPPTPLLGRKFFGDPTELAAKAAPLLRPGGYERGLEPLARRASDTLSAEVRTR
  VGYVRQELKPERLQPRIDRLPEIPGRVEPAALPAAPEDAAETPATPAAAEQVRPRPERQESADRAEELPRRRRPE
  RQESVDQSEEAARRRRPERQESAEHEAAHSLTLGRYEQMERRRERRERRLERQESSEQEMPIRGDLVKGKATLAD
  IVEQLQEKEAGPGLPAGPSLPQPRELPPGRLPNGLELPERTPRPDRPRARDRPKPRRRPRPREGGEGGGSRRSRS
  APAQGGSAPAPPPPPTHTVQHEGFLLRKRELDANRKSSNRSWVSLYCVLSKGELGFYKDSKGPASGSTHGGEPLL
  SLHKATSEVASDYKKKKHVFKLQTQDGSEFLLQAKDEEEMNGWLEAVASSVAEHAEIARWGQTLPTTSSTDEGNP
  KREGGDRRASGRRK

• Structural information:
  • Protein Domains: (61..16-)
    1 (/note="Calponin-homology-(CH))
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00044-)
    (180..28-)
    2 (/note="Calponin-homology-(CH))
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00044-)
    (2418..252-)
    (/note="PH-)
    (/evidence="ECO:00-)
  • Interpro: IPR001589  IPR001715  IPR036872  IPR011993  IPR041681   IPR001605  IPR001849  IPR018159  IPR016343  IPR002017  
  • Prosite: PS00019 PS00020 PS50021 PS50003
  • CDD: cd00014
  • STRING: ENSP00000263373
• Other Databases: GeneCards:  SPTBN4  Malacards:  SPTBN4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005884	actin filament	ISS	cellular component
GO:0043194	axon initial segment	ISS	cellular component
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:0051693	actin filament capping	IEA	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	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: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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030424	axon	IEA	cellular component
GO:0033268	node of Ranvier	IEA	cellular component
GO:0002028	regulation of sodium ion transport	IEA	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0009566	fertilization	IEA	biological process
GO:0014704	intercalated disc	IEA	cellular component
GO:0019226	transmission of nerve impulse	IEA	biological process
GO:0030424	axon	IEA	cellular component
GO:0030507	spectrin binding	IEA	molecular function
GO:0033135	regulation of peptidyl-serine phosphorylation	IEA	biological process
GO:0040018	positive regulation of multicellular organism growth	IEA	biological process
GO:0061337	cardiac conduction	IEA	biological process
GO:0070852	cell body fiber	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0043194	axon initial segment	IEA	cellular component
GO:0007409	axonogenesis	IEA	biological process
GO:0007605	sensory perception of sound	IEA	biological process
GO:0007628	adult walking behavior	IEA	biological process
GO:0010459	negative regulation of heart rate	IEA	biological process
GO:0021952	central nervous system projection neuron axonogenesis	IEA	biological process
GO:0022414	reproductive process	IEA	biological process
GO:0030534	adult behavior	IEA	biological process
GO:0033270	paranode region of axon	IEA	cellular component
GO:0034613	cellular protein localization	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0043194	axon initial segment	IEA	cellular component
GO:0043203	axon hillock	IEA	cellular component
GO:0045162	clustering of voltage-gated sodium channels	IEA	biological process
GO:0003779	actin binding	ISS	molecular function
GO:0030507	spectrin binding	ISS	molecular function
GO:0019902	phosphatase binding	IPI	molecular function
GO:0016020	membrane	IDA	cellular component
GO:0002028	regulation of sodium ion transport	ISS	biological process
GO:0005912	adherens junction	ISS	colocalizes with
GO:0019226	transmission of nerve impulse	ISS	biological process
GO:0033135	regulation of peptidyl-serine phosphorylation	ISS	biological process
GO:0033268	node of Ranvier	ISS	cellular component
GO:0061337	cardiac conduction	ISS	biological process
GO:0070852	cell body fiber	ISS	cellular component
GO:0072659	protein localization to plasma membrane	ISS	biological process
GO:0005886	plasma membrane	ISS	cellular component
GO:0007409	axonogenesis	ISS	biological process
GO:0007605	sensory perception of sound	ISS	biological process
GO:0007628	adult walking behavior	ISS	biological process
GO:0010459	negative regulation of heart rate	ISS	biological process
GO:0021952	central nervous system projection neuron axonogenesis	ISS	biological process
GO:0043025	neuronal cell body	ISS	cellular component
GO:0043194	axon initial segment	ISS	cellular component
GO:0043194	axon initial segment	ISS	cellular component
GO:0043203	axon hillock	ISS	cellular component
GO:0045162	clustering of voltage-gated sodium channels	ISS	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005938	cell cortex	IEA	cellular component
GO:0007010	cytoskeleton organization	IEA	biological process
GO:0007010	cytoskeleton organization	IEA	biological process
GO:0030506	ankyrin binding	IDA	molecular function
GO:0016605	PML body	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0016363	nuclear matrix	IDA	cellular component
GO:0008091	spectrin	IDA	cellular component
GO:0005200	structural constituent of cytoskeleton	TAS	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0016192	vesicle-mediated transport	TAS	biological process
GO:0106006	cytoskeletal protein-membrane anchor activity	TAS	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray