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Aliases for SPTBN5 Gene

Aliases for SPTBN5 Gene

  • Spectrin, Beta, Non-Erythrocytic 5 2 3
  • Beta V Spectrin 2 3
  • Beta-V Spectrin 3 4
  • HUBSPECV 3 4
  • HUSPECV 3 4
  • BSPECV 3 4
  • Spectrin, Non-Erythroid Beta Chain 4 3
  • Spectrin Beta Chain, Brain 4 3

External Ids for SPTBN5 Gene

Previous GeneCards Identifiers for SPTBN5 Gene

  • GC15M037508
  • GC15M035036
  • GC15M039719
  • GC15M039856
  • GC15M039927
  • GC15M042140
  • GC15M018988

Summaries for SPTBN5 Gene

GeneCards Summary for SPTBN5 Gene

SPTBN5 (Spectrin, Beta, Non-Erythrocytic 5) is a Protein Coding gene. Diseases associated with SPTBN5 include macular holes. Among its related pathways are Immune System and Signaling by GPCR. GO annotations related to this gene include actin binding and kinesin binding. An important paralog of this gene is ACTN2.

Gene Wiki entry for SPTBN5 Gene

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPTBN5 Gene

Genomics for SPTBN5 Gene

Regulatory Elements for SPTBN5 Gene

Genomic Location for SPTBN5 Gene

Chromosome:
15
Start:
41,848,144 bp from pter
End:
41,894,077 bp from pter
Size:
45,934 bases
Orientation:
Minus strand

Genomic View for SPTBN5 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SPTBN5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPTBN5 Gene

Proteins for SPTBN5 Gene

  • Protein details for SPTBN5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NRC6-SPTN5_HUMAN
    Recommended name:
    Spectrin beta chain, non-erythrocytic 5
    Protein Accession:
    Q9NRC6

    Protein attributes for SPTBN5 Gene

    Size:
    3674 amino acids
    Molecular mass:
    416750 Da
    Quaternary structure:
    • Probably associates with an alpha chain. Interacts (via C-terminus) with TRPC4.

neXtProt entry for SPTBN5 Gene

Proteomics data for SPTBN5 Gene at MOPED

Post-translational modifications for SPTBN5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SPTBN5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SPTBN5 Gene

Domains & Families for SPTBN5 Gene

Gene Families for SPTBN5 Gene

Suggested Antigen Peptide Sequences for SPTBN5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NRC6

UniProtKB/Swiss-Prot:

SPTN5_HUMAN :
  • Contains 2 CH (calponin-homology) domains.
  • Belongs to the spectrin family.
  • Contains 31 spectrin repeats.
Domain:
  • Contains 2 CH (calponin-homology) domains.
  • Contains 1 PH domain.
Family:
  • Belongs to the spectrin family.
Similarity:
  • Contains 31 spectrin repeats.
genes like me logo Genes that share domains with SPTBN5: view

Function for SPTBN5 Gene

Gene Ontology (GO) - Molecular Function for SPTBN5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002046 opsin binding IEA --
GO:0003779 actin binding NAS 10764729
GO:0005515 protein binding --
GO:0008022 protein C-terminus binding IEA --
GO:0019894 kinesin binding IDA 23704327
genes like me logo Genes that share ontologies with SPTBN5: view
genes like me logo Genes that share phenotypes with SPTBN5: view

miRNA for SPTBN5 Gene

miRTarBase miRNAs that target SPTBN5

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SPTBN5

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for SPTBN5 Gene

Localization for SPTBN5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPTBN5 Gene

Cytoplasm, cytoskeleton. Note=Detected prominently in the outer segments of photoreceptor rods and cones and in the basolateral membrane and cytosol of gastric epithelial cells.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SPTBN5 Gene COMPARTMENTS Subcellular localization image for SPTBN5 gene
Compartment Confidence
cytoskeleton 5
extracellular 5
plasma membrane 5
cytosol 4

Gene Ontology (GO) - Cellular Components for SPTBN5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 23704327
GO:0005829 cytosol TAS --
GO:0005875 microtubule associated complex IEA --
GO:0008091 spectrin NAS 10764729
GO:0016020 membrane NAS 10764729
genes like me logo Genes that share ontologies with SPTBN5: view

Pathways & Interactions for SPTBN5 Gene

SuperPathways for SPTBN5 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 SPTBN5: view

Pathways by source for SPTBN5 Gene

Interacting Proteins for SPTBN5 Gene

Gene Ontology (GO) - Biological Process for SPTBN5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0000186 activation of MAPKK activity TAS --
GO:0007030 Golgi organization IMP 23704327
GO:0007041 lysosomal transport IMP 23704327
GO:0007173 epidermal growth factor receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with SPTBN5: view

No data available for SIGNOR curated interactions for SPTBN5 Gene

Drugs & Compounds for SPTBN5 Gene

No Compound Related Data Available

Transcripts for SPTBN5 Gene

mRNA/cDNA for SPTBN5 Gene

(1) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(31) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SPTBN5 Gene

Spectrin, beta, non-erythrocytic 5:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SPTBN5

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SPTBN5 Gene

No ASD Table

Relevant External Links for SPTBN5 Gene

GeneLoc Exon Structure for
SPTBN5
ECgene alternative splicing isoforms for
SPTBN5

Expression for SPTBN5 Gene

mRNA expression in normal human tissues for SPTBN5 Gene

mRNA differential expression in normal tissues according to GTEx for SPTBN5 Gene

This gene is overexpressed in Nerve - Tibial (x8.5), Brain - Cerebellum (x5.7), and Brain - Cerebellar Hemisphere (x5.1).

Protein differential expression in normal tissues from HIPED for SPTBN5 Gene

This gene is overexpressed in Adipocyte (33.9), Platelet (12.6), and Breast (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SPTBN5 Gene



SOURCE GeneReport for Unigene cluster for SPTBN5 Gene Hs.709819

mRNA Expression by UniProt/SwissProt for SPTBN5 Gene

Q9NRC6-SPTN5_HUMAN
Tissue specificity: Expressed at very low levels in many tissues, with strongest expression in cerebellum, spinal cord, stomach, pituitary gland, liver, pancreas, salivary gland, kidney, bladder, and heart
genes like me logo Genes that share expression patterns with SPTBN5: view

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

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 SPTBN5 Gene

Orthologs for SPTBN5 Gene

This gene was present in the common ancestor of animals.

Orthologs for SPTBN5 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SPTBN5 35
  • 81.08 (n)
  • 72.37 (a)
SPTBN5 36
  • 71 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sptbn5 35
  • 75.87 (n)
  • 65.83 (a)
Sptbn5 16
chimpanzee
(Pan troglodytes)
Mammalia SPTBN5 35
  • 98.81 (n)
  • 98.04 (a)
SPTBN5 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sptbn5 35
  • 75.7 (n)
  • 65.3 (a)
dog
(Canis familiaris)
Mammalia SPTBN5 36
  • 69 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SPTBN5 36
  • 53 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SPTBN5 36
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves SPTBN5 35
  • 56.26 (n)
  • 46.19 (a)
SPTBN5 36
  • 42 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SPTBN5 36
  • 43 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sptbn5 35
  • 54.32 (n)
  • 43.93 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC569585 35
  • 48.14 (n)
  • 34.47 (a)
SPTBN5 36
  • 33 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004440 35
  • 45.69 (n)
  • 31.32 (a)
fruit fly
(Drosophila melanogaster)
Insecta kst 35
  • 47.7 (n)
  • 33.23 (a)
beta-Spec 36
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sma-1 35
  • 41.4 (n)
  • 30.02 (a)
unc-70 36
  • 26 (a)
OneToMany
Species with no ortholog for SPTBN5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 SPTBN5 Gene

ENSEMBL:
Gene Tree for SPTBN5 (if available)
TreeFam:
Gene Tree for SPTBN5 (if available)

Paralogs for SPTBN5 Gene

Paralogs for SPTBN5 Gene

(1) SIMAP similar genes for SPTBN5 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with SPTBN5: view

Variants for SPTBN5 Gene

Sequence variations from dbSNP and Humsavar for SPTBN5 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs734916 -- 41,861,114(-) CTTTT(C/G)CCGCC intron-variant
rs734917 -- 41,861,039(-) AACAT(C/G)GTCCT intron-variant
rs745646 -- 41,887,053(-) ATAAC(A/C/G)GAAGG intron-variant
rs747779 -- 41,878,380(-) GAGCA(C/T)CAAGA reference, synonymous-codon
rs747780 -- 41,878,308(-) CTTTG(A/G)GCTGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SPTBN5 Gene

Variant ID Type Subtype PubMed ID
nsv904115 CNV Loss 21882294
nsv904116 CNV Loss 21882294
nsv517631 CNV Loss 19592680
dgv2364n71 CNV Loss 21882294
nsv904119 CNV Loss 21882294
dgv2365n71 CNV Loss 21882294
nsv9244 CNV Gain 18304495
nsv1506 CNV Insertion 18451855
nsv904126 CNV Loss 21882294
dgv2366n71 CNV Loss 21882294
esv2663665 CNV Deletion 23128226
nsv904129 CNV Loss 21882294

Variation tolerance for SPTBN5 Gene

Residual Variation Intolerance Score: 99.85% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 25.43; 99.71% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SPTBN5 Gene

HapMap Linkage Disequilibrium report
SPTBN5
Human Gene Mutation Database (HGMD)
SPTBN5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPTBN5 Gene

Disorders for SPTBN5 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SPTBN5 Gene - From: DISEASES

Disorder Aliases PubMed IDs
macular holes
  • macular hole
- elite association

Relevant External Links for SPTBN5

Genetic Association Database (GAD)
SPTBN5
Human Genome Epidemiology (HuGE) Navigator
SPTBN5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPTBN5
genes like me logo Genes that share disorders with SPTBN5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SPTBN5 Gene

Publications for SPTBN5 Gene

  1. Identification and characterization of beta V spectrin, a mammalian ortholog of Drosophila beta H spectrin. (PMID: 10764729) Stabach P.R. … Morrow J.S. (J. Biol. Chem. 2000) 2 23 67
  2. The spectrin cytoskeleton influences the surface expression and activation of human transient receptor potential channel 4 channels. (PMID: 18048348) Odell A.F. … Scott J.L. (J. Biol. Chem. 2008) 23 67
  3. Differential expression of vitreous proteins in proliferative diabetic retinopathy. (PMID: 16531280) Kim S.J. … Kim Y. (Curr. Eye Res. 2006) 23 67
  4. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 67
  5. The giant spectrin I^V couples the molecular motors to phototransduction and Usher syndrome type I proteins along their trafficking route. (PMID: 23704327) Papal S. … El-Amraoui A. (Hum. Mol. Genet. 2013) 67

Products for SPTBN5 Gene

Sources for SPTBN5 Gene

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