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Aliases for SPTBN4 Gene

Aliases for SPTBN4 Gene

  • Spectrin, Beta, Non-Erythrocytic 4 2 3
  • Spectrin, Non-Erythroid Beta Chain 3 3 4
  • Beta-IV Spectrin 3 4
  • SPTBN3 3 4
  • Spectrin Beta Chain, Brain 3 3
  • KIAA1642 4
  • SPNB4 3
  • QV 3

External Ids for SPTBN4 Gene

Previous GeneCards Identifiers for SPTBN4 Gene

  • GC19P041612
  • GC19P041364
  • GC19P045649
  • GC19P045664
  • GC19P045663
  • GC19P040973
  • GC19P037385

Summaries for SPTBN4 Gene

Entrez Gene Summary for SPTBN4 Gene

  • 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 composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein localizes to the nuclear matrix, PML nuclear bodies, and cytoplasmic vesicles. A highly similar gene in the mouse is required for localization of specific membrane proteins in polarized regions of neurons. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for SPTBN4 Gene

SPTBN4 (Spectrin, Beta, Non-Erythrocytic 4) is a Protein Coding gene. Among its related pathways are Immune System and Signaling by GPCR. GO annotations related to this gene include actin binding and phospholipid binding. An important paralog of this gene is ACTN2.

Gene Wiki entry for SPTBN4 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPTBN4 Gene

Genomics for SPTBN4 Gene

Regulatory Elements for SPTBN4 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SPTBN4 Gene

Chromosome:
19
Start:
40,466,107 bp from pter
End:
40,576,464 bp from pter
Size:
110,358 bases
Orientation:
Plus strand

Genomic View for SPTBN4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SPTBN4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPTBN4 Gene

Proteins for SPTBN4 Gene

  • Protein details for SPTBN4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H254-SPTN4_HUMAN
    Recommended name:
    Spectrin beta chain, non-erythrocytic 4
    Protein Accession:
    Q9H254
    Secondary Accessions:
    • E9PGQ5
    • Q9H1K7
    • Q9H1K8
    • Q9H1K9
    • Q9H253
    • Q9H3G8
    • Q9HCD0

    Protein attributes for SPTBN4 Gene

    Size:
    2564 amino acids
    Molecular mass:
    288985 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SPTBN4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SPTBN4 Gene

Proteomics data for SPTBN4 Gene at MOPED

Post-translational modifications for SPTBN4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SPTBN4 Gene

No data available for DME Specific Peptides for SPTBN4 Gene

Domains & Families for SPTBN4 Gene

Suggested Antigen Peptide Sequences for SPTBN4 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H254

UniProtKB/Swiss-Prot:

SPTN4_HUMAN :
  • Contains 2 CH (calponin-homology) domains.
  • Belongs to the spectrin family.
  • Contains 18 spectrin repeats.
Domain:
  • Contains 2 CH (calponin-homology) domains.
  • Contains 1 PH domain.
Family:
  • Belongs to the spectrin family.
Similarity:
  • Contains 18 spectrin repeats.
genes like me logo Genes that share domains with SPTBN4: view

Function for SPTBN4 Gene

Gene Ontology (GO) - Molecular Function for SPTBN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding TAS 11086001
GO:0005200 structural constituent of cytoskeleton TAS 11294830
GO:0005515 protein binding IPI 11086001
GO:0005543 phospholipid binding IEA --
GO:0019902 phosphatase binding IPI 11086001
genes like me logo Genes that share ontologies with SPTBN4: view
genes like me logo Genes that share phenotypes with SPTBN4: view

Animal Models for SPTBN4 Gene

MGI Knock Outs for SPTBN4:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SPTBN4

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for SPTBN4 Gene

Localization for SPTBN4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPTBN4 Gene

Cytoplasm, cytoskeleton. Cytoplasm, cell cortex.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SPTBN4 Gene COMPARTMENTS Subcellular localization image for SPTBN4 gene
Compartment Confidence
cytoskeleton 5
extracellular 5
nucleus 5
cytosol 4
plasma membrane 3

Gene Ontology (GO) - Cellular Components for SPTBN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane ISS --
GO:0005912 adherens junction ISS --
GO:0008091 spectrin ISS --
genes like me logo Genes that share ontologies with SPTBN4: view

Pathways & Interactions for SPTBN4 Gene

SuperPathways for SPTBN4 Gene

Superpath Contained pathways
1 Interleukin receptor SHC signaling
2 Immune System
3 Signaling by GPCR
4 Developmental Biology
5 Sertoli-Sertoli Cell Junction Dynamics
genes like me logo Genes that share pathways with SPTBN4: view

Pathways by source for SPTBN4 Gene

Gene Ontology (GO) - Biological Process for SPTBN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0000186 activation of MAPKK activity TAS --
GO:0002028 regulation of sodium ion transport ISS --
GO:0007016 cytoskeletal anchoring at plasma membrane TAS 11086001
GO:0007173 epidermal growth factor receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with SPTBN4: view

No data available for SIGNOR curated interactions for SPTBN4 Gene

Drugs & Compounds for SPTBN4 Gene

(1) Additional Compounds for SPTBN4 Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
genes like me logo Genes that share compounds with SPTBN4: view

Transcripts for SPTBN4 Gene

Unigene Clusters for SPTBN4 Gene

Spectrin, beta, non-erythrocytic 4:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SPTBN4

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SPTBN4 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19a · 19b ^ 20a · 20b ·
SP1: - - -
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8: - - -
SP9:
SP10:
SP11:

ExUns: 20c ^ 21 ^ 22a · 22b ^ 23 ^ 24a · 24b ^ 25a · 25b ^ 26a · 26b ^ 27a · 27b · 27c
SP1:
SP2:
SP3: -
SP4:
SP5: - -
SP6: -
SP7:
SP8:
SP9:
SP10: -
SP11:

Relevant External Links for SPTBN4 Gene

GeneLoc Exon Structure for
SPTBN4
ECgene alternative splicing isoforms for
SPTBN4

Expression for SPTBN4 Gene

mRNA expression in normal human tissues for SPTBN4 Gene

mRNA differential expression in normal tissues according to GTEx for SPTBN4 Gene

This gene is overexpressed in Brain - Cerebellum (x7.6), Brain - Cerebellar Hemisphere (x7.5), Brain - Cortex (x4.7), and Brain - Frontal Cortex (BA9) (x4.1).

Protein differential expression in normal tissues from HIPED for SPTBN4 Gene

This gene is overexpressed in Frontal cortex (23.4), Lung (8.6), and Bone marrow stromal cell (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SPTBN4 Gene



SOURCE GeneReport for Unigene cluster for SPTBN4 Gene Hs.32706

mRNA Expression by UniProt/SwissProt for SPTBN4 Gene

Q9H254-SPTN4_HUMAN
Tissue specificity: Abundantly expressed in brain and pancreatic islets
genes like me logo Genes that share expression patterns with SPTBN4: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for SPTBN4 Gene

Orthologs for SPTBN4 Gene

This gene was present in the common ancestor of animals.

Orthologs for SPTBN4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SPTBN4 35
  • 91.97 (n)
  • 97.03 (a)
SPTBN4 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SPTBN4 35
  • 92.32 (n)
  • 96.92 (a)
SPTBN4 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sptbn4 35
  • 88.56 (n)
  • 95.62 (a)
Sptbn4 16
Sptbn4 36
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sptbn4 35
  • 88.6 (n)
  • 95.55 (a)
oppossum
(Monodelphis domestica)
Mammalia SPTBN4 36
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SPTBN4 36
  • 82 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SPTBN4 36
  • 100 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 36
  • 39 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia SPTBN4 36
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sptbn4 35
  • 64.69 (n)
  • 66.11 (a)
zebrafish
(Danio rerio)
Actinopterygii SPTBN4 (1 of 3) 36
  • 40 (a)
OneToMany
SPTBN4 (2 of 3) 36
  • 54 (a)
OneToMany
SPTBN4 (3 of 3) 36
  • 63 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta beta-Spec 36
  • 43 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea M116.5 37
  • 43 (a)
unc-70 36
  • 40 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 42 (a)
OneToMany
Species with no ortholog for SPTBN4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SPTBN4 Gene

ENSEMBL:
Gene Tree for SPTBN4 (if available)
TreeFam:
Gene Tree for SPTBN4 (if available)

Paralogs for SPTBN4 Gene

Paralogs for SPTBN4 Gene

genes like me logo Genes that share paralogs with SPTBN4: view

Variants for SPTBN4 Gene

Sequence variations from dbSNP and Humsavar for SPTBN4 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs814500 -- 40,535,200(+) acaag(C/T)gcata intron-variant
rs814501 - 40,532,667(+) GGGAT(A/G)GCACG missense, reference
rs814502 -- 40,531,967(+) TAGAA(C/T)TGGGG intron-variant
rs814504 -- 40,555,577(+) GAAGC(A/G)GAGCT intron-variant
rs814505 -- 40,555,414(+) TGAAC(A/C)TGGGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SPTBN4 Gene

Variant ID Type Subtype PubMed ID
dgv3867n71 CNV Loss 21882294
nsv911709 CNV Loss 21882294
dgv3868n71 CNV Loss 21882294
nsv911711 CNV Loss 21882294
esv2676684 CNV Deletion 23128226
esv2667159 CNV Deletion 23128226
nsv138059 CNV Insertion 16902084
dgv3869n71 CNV Loss 21882294
esv1007999 CNV Deletion 20482838
dgv3870n71 CNV Loss 21882294
nsv911718 CNV Loss 21882294
esv992020 CNV Loss 20482838
esv2718565 CNV Deletion 23290073
dgv3871n71 CNV Loss 21882294

Variation tolerance for SPTBN4 Gene

Residual Variation Intolerance Score: 21.33% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.65; 96.57% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SPTBN4 Gene

HapMap Linkage Disequilibrium report
SPTBN4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPTBN4 Gene

Disorders for SPTBN4 Gene

Relevant External Links for SPTBN4

Genetic Association Database (GAD)
SPTBN4
Human Genome Epidemiology (HuGE) Navigator
SPTBN4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPTBN4
genes like me logo Genes that share disorders with SPTBN4: view

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SPTBN4 Gene

Publications for SPTBN4 Gene

  1. BetaIV spectrin, a new spectrin localized at axon initial segments and nodes of Ranvier in the central and peripheral nervous system. (PMID: 11086001) Berghs S. … Solimena M. (J. Cell Biol. 2000) 2 23 67
  2. Selective alterations in postsynaptic markers of chandelier cell inputs to cortical pyramidal neurons in subjects with schizophrenia. (PMID: 19322171) Cruz D.A. … Lewis D.A. (Neuropsychopharmacology 2009) 23 67
  3. A new paraneoplastic encephalomyelitis autoantibody reactive with the axon initial segment. (PMID: 19833174) Shams'ili S. … Smitt P.S. (Neurosci. Lett. 2009) 23 67
  4. Disruption of the axon initial segment cytoskeleton is a new mechanism for neuronal injury. (PMID: 19846712) Schafer D.P. … Rasband M.N. (J. Neurosci. 2009) 23 67
  5. Vesicular apparatus, including functional calcium channels, are present in developing rodent optic nerve axons and are required for normal node of Ranvier formation. (PMID: 18599536) Alix J.J. … Fern R. (J. Physiol. (Lond.) 2008) 23 67

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