AutismKB 2.0

Annotation Details for SPTBN4


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Basic Information Top
Gene Symbol:SPTBN4 ( KIAA1642,QV,SPNB4,SPTBN3 )
Gene Full Name: spectrin, beta, non-erythrocytic 4
Band: 19q13.13
Quick LinksEntrez ID:57731; OMIM: 606214; Uniprot ID:SPTN4_HUMAN; ENSEMBL ID: ENSG00000160460; HGNC ID: 14896
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005737IDA-cytoplasm11294830
GO:0005737ISS-cytoplasm-
GO:0005829TAS-cytosol-
GO:0005886ISS-plasma membrane-
GO:0005912ISS-adherens junction-
GO:0008091IDA-spectrin11086001
GO:0008091ISS-spectrin-
GO:0016020IDA-membrane11086001
GO:0016363IDA-nuclear matrix11294830
GO:0016363ISS-nuclear matrix-
GO:0016605IDA-PML body11294830
GO:0016605ISS-PML body-
GO:0033268ISS-node of Ranvier-
GO:0033270IEA-paranode region of axon-
GO:0043025ISS-neuronal cell body-
GO:0043194ISS-axon initial segment-
GO:0043203ISS-axon hillock-
GO:0070062IDA-extracellular exosome23533145
GO:0070852ISS-cell body fiber-
GO ID Evidence Qualifier GO_term References
GO:0003779ISS-actin binding-
GO:0003779TAS-actin binding11086001
GO:0005088TAS-Ras guanyl-nucleotide exchange factor activity-
GO:0005200TAS-structural constituent of cytoskeleton11294830
GO:0005515IPI-protein binding11086001
GO:0005543IEA-phospholipid binding-
GO:0019902IPI-phosphatase binding11086001
GO:0030506IDA-ankyrin binding11294830
GO:0030506ISS-ankyrin binding-
GO:0030507ISS-spectrin binding-
GO ID Evidence Qualifier GO_term References
GO:0000165TAS-MAPK cascade-
GO:0002028ISS-regulation of sodium ion transport-
GO:0006888TAS-ER to Golgi vesicle-mediated transport-
GO:0007016TAS-cytoskeletal anchoring at plasma membrane11086001
GO:0007409ISS-axonogenesis-
GO:0007411TAS-axon guidance-
GO:0007605ISS-sensory perception of sound-
GO:0007628ISS-adult walking behavior-
GO:0009566IEA-fertilization-
GO:0010459ISS-negative regulation of heart rate-
GO:0016192TAS-vesicle-mediated transport11294830
GO:0019226ISS-transmission of nerve impulse-
GO:0021952ISS-central nervous system projection neuron axonogenesis-
GO:0033135ISS-regulation of peptidyl-serine phosphorylation-
GO:0040018IEA-positive regulation of multicellular organism growth-
GO:0043547IEA-positive regulation of GTPase activity-
GO:0045162ISS-clustering of voltage-gated sodium channels-
GO:0051693IEA-actin filament capping-
GO:0061337ISS-cardiac conduction-
GO:0090002ISS-establishment of protein localization to plasma membrane-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
SPTBN4ANK312175111807096 Affinity Capture-Western
SPTBN4ANK310678511807096 Affinity Capture-Western
SPTBN4PTPRN12175111086001 Affinity Capture-Western; Two-hybrid
SPTBN4PTPRN11176211086001 Affinity Capture-Western; Two-hybrid
SPTBN4PTPRN212175111086001 Two-hybrid
SPTBN4PTPRN211176311086001 Two-hybrid
SPTBN4DISC111806112812986 Affinity Capture-Western; Two-hybrid
SPTBN4DISC112175112812986 Affinity Capture-Western; Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1890574
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018