ENSG00000160460


Homo sapiens

Features
Gene ID: ENSG00000160460
  
Biological name :SPTBN4
  
Synonyms : Q9H254 / spectrin beta, non-erythrocytic 4 / SPTBN4
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: 1
Band: q13.2
Gene start: 40466241
Gene end: 40576464
  
Corresponding Affymetrix probe sets: 220185_at (Human Genome U133 Plus 2.0 Array)   224144_at (Human Genome U133 Plus 2.0 Array)   224145_s_at (Human Genome U133 Plus 2.0 Array)   224297_s_at (Human Genome U133 Plus 2.0 Array)   224551_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000470693
Ensembl peptide - ENSP00000469242
Ensembl peptide - ENSP00000472136
Ensembl peptide - ENSP00000263373
Ensembl peptide - ENSP00000340345
Ensembl peptide - ENSP00000375877
Ensembl peptide - ENSP00000375879
NCBI entrez gene - 57731     See in Manteia.
OMIM - 606214
RefSeq - XM_017027051
RefSeq - NM_020971
RefSeq - NM_025213
RefSeq - XM_011527173
RefSeq - XM_017027049
RefSeq - XM_017027050
RefSeq Peptide - NP_079489
RefSeq Peptide - NP_066022
swissprot - M0QZQ3
swissprot - M0R1V6
swissprot - Q9H254
swissprot - C9JY79
Ensembl - ENSG00000160460
  
Related genetic diseases (OMIM): 617519 - ?Myopathy, congenital, with neuropathy and deafness, 617519
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 si:ch73-262h23.4ENSDARG00000111942Danio rerio
 si:dkey-27p18.5ENSDARG00000068624Danio rerio
 SPTBN4ENSDARG00000092624Danio rerio
 Sptbn4ENSMUSG00000011751Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q01082 / SPTBN1 / spectrin beta, non-erythrocytic 1ENSG0000011530647
O15020 / SPTBN2 / spectrin beta, non-erythrocytic 2ENSG0000017389844
SPTB / P11277 / spectrin beta, erythrocyticENSG0000007018243
Q9NRC6 / SPTBN5 / spectrin beta, non-erythrocytic 5ENSG0000013787728
Q13813 / SPTAN1 / spectrin alpha, non-erythrocytic 1ENSG0000019769418
SPTA1 / P02549 / spectrin alpha, erythrocytic 1ENSG0000016355417
ACTN2 / P35609 / actinin alpha 2ENSG0000007752210
ACTN4 / O43707 / actinin alpha 4ENSG0000013040210
ACTN1 / P12814 / actinin alpha 1ENSG0000007211010
ACTN3 / Q08043 / actinin alpha 3 (gene/pseudogene)ENSG0000024874610


Protein motifs (from Interpro)
Interpro ID Name
 IPR001589  Actinin-type actin-binding domain, conserved site
 IPR001605  Pleckstrin homology domain, spectrin-type
 IPR001715  Calponin homology domain
 IPR001849  Pleckstrin homology domain
 IPR002017  Spectrin repeat
 IPR011993  PH-like domain superfamily
 IPR016343  Spectrin, beta subunit
 IPR018159  Spectrin/alpha-actinin
 IPR036872  CH domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000165 MAPK cascade TAS
 biological_processGO:0002028 regulation of sodium ion transport ISS
 biological_processGO:0006888 ER to Golgi vesicle-mediated transport TAS
 biological_processGO:0007010 cytoskeleton organization IEA
 biological_processGO:0007016 cytoskeletal anchoring at plasma membrane TAS
 biological_processGO:0007409 axonogenesis ISS
 biological_processGO:0007411 axon guidance TAS
 biological_processGO:0007605 sensory perception of sound ISS
 biological_processGO:0007628 adult walking behavior ISS
 biological_processGO:0009566 fertilization IEA
 biological_processGO:0010459 negative regulation of heart rate ISS
 biological_processGO:0016192 vesicle-mediated transport TAS
 biological_processGO:0019226 transmission of nerve impulse ISS
 biological_processGO:0021952 central nervous system projection neuron axonogenesis ISS
 biological_processGO:0022414 reproductive process IEA
 biological_processGO:0030534 adult behavior IEA
 biological_processGO:0033135 regulation of peptidyl-serine phosphorylation ISS
 biological_processGO:0034613 cellular protein localization IEA
 biological_processGO:0040018 positive regulation of multicellular organism growth IEA
 biological_processGO:0045162 clustering of voltage-gated sodium channels ISS
 biological_processGO:0051693 actin filament capping IEA
 biological_processGO:0061337 cardiac conduction ISS
 biological_processGO:0065009 regulation of molecular function IEA
 biological_processGO:0072659 protein localization to plasma membrane ISS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005886 plasma membrane ISS
 cellular_componentGO:0005912 adherens junction ISS
 cellular_componentGO:0005938 cell cortex IEA
 cellular_componentGO:0008091 spectrin IEA
 cellular_componentGO:0014704 intercalated disc IEA
 cellular_componentGO:0016020 membrane IDA
 cellular_componentGO:0016363 nuclear matrix ISS
 cellular_componentGO:0016605 PML body ISS
 cellular_componentGO:0030424 axon IEA
 cellular_componentGO:0033268 node of Ranvier ISS
 cellular_componentGO:0033270 paranode region of axon IEA
 cellular_componentGO:0043025 neuronal cell body ISS
 cellular_componentGO:0043194 axon initial segment ISS
 cellular_componentGO:0043203 axon hillock ISS
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0070852 cell body fiber ISS
 molecular_functionGO:0003779 actin binding IEA
 molecular_functionGO:0005088 Ras guanyl-nucleotide exchange factor activity TAS
 molecular_functionGO:0005200 structural constituent of cytoskeleton IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0005543 phospholipid binding IEA
 molecular_functionGO:0019902 phosphatase binding IPI
 molecular_functionGO:0030506 ankyrin binding ISS
 molecular_functionGO:0030507 spectrin binding ISS


Pathways (from Reactome)
Pathway description
NCAM signaling for neurite out-growth
Interaction between L1 and Ankyrins
RAF/MAP kinase cascade
COPI-mediated anterograde transport


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr