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Aliases for SPTBN5 Gene

Aliases for SPTBN5 Gene

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

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 RET signaling and Sertoli-Sertoli Cell Junction Dynamics. GO annotations related to this gene include actin binding and kinesin binding. An important paralog of this gene is SPTBN4.

Gene Wiki entry for SPTBN5 Gene

Additional gene information for SPTBN5 Gene

No data available for Entrez Gene Summary , CIViC 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

Enhancers for SPTBN5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15H041925 1.9 FANTOM5 Ensembl ENCODE dbSUPER 41.8 -34.4 -34362 6.6 HDGF PKNOX1 FOXA2 ARID4B SIN3A FEZF1 BRCA1 YY1 ZNF143 FOS SPTBN5 EHD4 LOC105370792 PLA2G4E-AS1 ENSG00000250379 JMJD7 JMJD7-PLA2G4B MAPKBP1 PLA2G4E TYRO3
GH15H041915 1.4 Ensembl ENCODE dbSUPER 36.5 -24.9 -24939 6.4 FOXA2 ATF1 ZFP64 RAD21 RARA YY1 FOS ATF7 ZC3H11A USF2 SPTBN5 MGA CDAN1 ENSG00000260814 LOC105370792 PLA2G4E-AS1 EHD4 MAPKBP1 STARD9 INO80
GH15H041903 1.1 ENCODE dbSUPER 42.1 -10.7 -10719 1.6 GTF2F1 HDGF CTCF PKNOX1 SAP130 RB1 RAD21 RFX5 TEAD3 ZNF316 SPTBN5 MAPKBP1 LOC105370792 PLA2G4F ENSG00000278493 GC15M041900
GH15H041772 1.6 Ensembl ENCODE dbSUPER 23.5 +118.1 118079 6.4 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766 CBX5 JMJD7 MGA CDAN1 SPTBN5 VPS39 INO80 ENSG00000260814 JMJD7-PLA2G4B ENSG00000250379 LOC105370792
GH15H041913 0.9 Ensembl ENCODE dbSUPER 37.3 -20.4 -20425 2.4 POLR2A SPTBN5 PLA2G4E-AS1 EHD4 MAPKBP1 TYRO3 RPAP1 LTK GANC TMEM87A LOC105370792
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SPTBN5 on UCSC Golden Path with GeneCards custom track

Genomic Locations for SPTBN5 Gene

Genomic Locations for SPTBN5 Gene
45,934 bases
Minus strand

Genomic View for SPTBN5 Gene

Genes around SPTBN5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPTBN5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Recommended name:
    Spectrin beta chain, non-erythrocytic 5
    Protein Accession:

    Protein attributes for SPTBN5 Gene

    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

Post-translational modifications for SPTBN5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SPTBN5 Gene

No data available for DME Specific Peptides for SPTBN5 Gene

Domains & Families for SPTBN5 Gene

Gene Families for SPTBN5 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for SPTBN5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the spectrin family.
  • Belongs to the spectrin family.
genes like me logo Genes that share domains with SPTBN5: view

Function for SPTBN5 Gene

Phenotypes From GWAS Catalog for SPTBN5 Gene

Gene Ontology (GO) - Molecular Function for SPTBN5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding NAS 10764729
GO:0005088 Ras guanyl-nucleotide exchange factor activity TAS --
GO:0019894 kinesin binding IDA 23704327
GO:0030507 spectrin binding IDA 23704327
GO:0032029 myosin tail 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

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No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SPTBN5 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 5
cytosol 5
mitochondrion 1
peroxisome 1
nucleus 1

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:0005856 cytoskeleton IEA --
GO:0008091 spectrin NAS 10764729
GO:0016020 membrane NAS 10764729
genes like me logo Genes that share ontologies with SPTBN5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SPTBN5 Gene

Pathways & Interactions for SPTBN5 Gene

SuperPathways for SPTBN5 Gene

SuperPathway Contained pathways
1 RET signaling
2 Transport to the Golgi and subsequent modification
3 Sertoli-Sertoli Cell Junction Dynamics
4 Developmental Biology
5 Cytokine Signaling in Immune system
genes like me logo Genes that share pathways with SPTBN5: view

Gene Ontology (GO) - Biological Process for SPTBN5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0007030 Golgi organization IMP 23704327
GO:0007041 lysosomal transport IMP 23704327
GO:0007411 axon guidance 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

Unigene Clusters for SPTBN5 Gene

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

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

No ASD Table

Relevant External Links for SPTBN5 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SPTBN5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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

NURSA nuclear receptor signaling pathways regulating expression of SPTBN5 Gene:


SOURCE GeneReport for Unigene cluster for SPTBN5 Gene:


mRNA Expression by UniProt/SwissProt for SPTBN5 Gene:

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.

Evidence on tissue expression from TISSUES for SPTBN5 Gene

  • Eye(4.4)
  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with SPTBN5: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia SPTBN5 33 34
  • 98.81 (n)
(Bos Taurus)
Mammalia SPTBN5 33 34
  • 81.08 (n)
(Mus musculus)
Mammalia Sptbn5 33 16
  • 75.87 (n)
(Rattus norvegicus)
Mammalia Sptbn5 33
  • 75.7 (n)
(Canis familiaris)
Mammalia SPTBN5 34
  • 69 (a)
(Ornithorhynchus anatinus)
Mammalia SPTBN5 34
  • 56 (a)
(Monodelphis domestica)
Mammalia SPTBN5 34
  • 53 (a)
(Gallus gallus)
Aves SPTBN5 33 34
  • 56.26 (n)
(Anolis carolinensis)
Reptilia SPTBN5 34
  • 43 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia sptbn5 33
  • 54.32 (n)
(Danio rerio)
Actinopterygii LOC569585 33
  • 48.14 (n)
  • 33 (a)
fruit fly
(Drosophila melanogaster)
Insecta kst 33
  • 47.7 (n)
beta-Spec 34
  • 27 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004440 33
  • 45.69 (n)
(Caenorhabditis elegans)
Secernentea sma-1 33
  • 41.4 (n)
unc-70 34
  • 26 (a)
Species where no ortholog for SPTBN5 was found in the sources mined by GeneCards:
  • 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

Gene Tree for SPTBN5 (if available)
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
rs1000006640 -- 41,853,323(+) GGCTT(A/G)AAGGC reference, stop-gained
rs1000192193 -- 41,872,764(+) AGACT(G/T)GACCC intron-variant
rs1000375889 -- 41,886,841(+) ATTCT(C/G)CGTAG intron-variant, utr-variant-5-prime
rs1000427678 -- 41,867,175(+) GGGCA(A/G)GGCCT intron-variant, upstream-variant-2KB
rs1000458836 -- 41,850,457(+) GGTGA(C/T)ATTCA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv952613 CNV deletion 24416366
nsv9244 CNV gain 18304495
nsv517631 CNV loss 19592680
nsv1506 CNV insertion 18451855
nsv1050892 CNV gain 25217958
nsv1038933 CNV gain 25217958
nsv1035998 CNV gain 25217958
esv2663665 CNV deletion 23128226
dgv2582n100 CNV gain 25217958

Variation tolerance for SPTBN5 Gene

Residual Variation Intolerance Score: 99.8% 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

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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: HGMD and DISEASES

Disorder Aliases PubMed IDs
macular holes
  • macular hole
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SPTBN5

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 PR … Morrow JS (The Journal of biological chemistry 2000) 2 3 4 22 60
  2. The spectrin cytoskeleton influences the surface expression and activation of human transient receptor potential channel 4 channels. (PMID: 18048348) Odell AF … Scott JL (The Journal of biological chemistry 2008) 3 4 22 60
  3. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M … Yamada Y (American journal of hypertension 2010) 3 45 60
  4. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T … Yamada Y (International journal of molecular medicine 2010) 3 45 60
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60

Products for SPTBN5 Gene

Sources for SPTBN5 Gene

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