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Aliases for SPTBN4 Gene

Aliases for SPTBN4 Gene

  • Spectrin Beta, Non-Erythrocytic 4 2 3 5
  • Spectrin, Non-Erythroid Beta Chain 3 3 4
  • Beta-IV Spectrin 3 4
  • SPTBN3 3 4
  • Spectrin Beta Chain, Non-Erythrocytic 4 3
  • Spectrin Beta Chain, Brain 3 3
  • KIAA1642 4
  • SPNB4 3
  • CMND 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. Diseases associated with SPTBN4 include Myopathy, Congenital, With Neuropathy And Deafness. Among its related pathways are RET signaling and Sertoli-Sertoli Cell Junction Dynamics. GO annotations related to this gene include actin binding and phospholipid binding. An important paralog of this gene is SPTBN1.

Gene Wiki entry for SPTBN4 Gene

Additional gene information for SPTBN4 Gene

No data available for CIViC summary , 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

Enhancers for SPTBN4 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
GH19H040596 1.8 FANTOM5 ENCODE dbSUPER 25.1 +135.6 135589 10 MLX FEZF1 DMAP1 YY1 ZNF416 ZNF143 ZNF548 SP3 NFYC ZC3H11A HNRNPUL1 SNRPA ZNF780B ENSG00000269843 CCDC97 CYP2G1P AKT2 FBL ZNF780A NUMBL
GH19H041294 2.1 FANTOM5 Ensembl ENCODE dbSUPER 12.8 +837.2 837190 16 MLX ZFP64 FEZF1 DMAP1 YBX1 YY1 ZNF416 ZNF143 ZNF548 SP3 ZNF526 HNRNPUL1 SNRPA ENSG00000269843 ZNF574 CCDC97 COQ8B TGFB1 AXL ITPKC
GH19H041261 1.8 FANTOM5 ENCODE dbSUPER 14 +798.7 798743 7 FEZF1 DMAP1 YY1 ZNF143 SP3 NFYC ZC3H11A MEF2D SSRP1 ZNF610 ZNF526 ZNF574 HNRNPUL1 SNRPA CCDC97 ENSG00000269843 CYP2F2P NUMBL ENSG00000271299 CYP2G2P
GH19H040747 1.8 FANTOM5 ENCODE dbSUPER 12.9 +286.7 286655 9 MLX ZFP64 FEZF1 DMAP1 YBX1 YY1 ZNF416 ZNF143 SP3 NFYC HNRNPUL1 SNRPA ENSG00000269843 CCDC97 COQ8B ZNF780A AKT2 ZNF780B ITPKC FBL
GH19H040826 1.5 Ensembl ENCODE dbSUPER 14 +360.8 360845 1 HDGF PKNOX1 ZNF416 KLF7 YY2 NCOA1 ZNF488 ZNF592 ZFP41 SMARCA4 ENSG00000269843 AKT2 HNRNPUL1 SNRPA CCDC97 PSMC4 ZNF780B SPTBN4 ZNF546 CYP2G1P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SPTBN4 on UCSC Golden Path with GeneCards custom track

Promoters for SPTBN4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000288387 -407 1001 HDGF PKNOX1 ARID4B SIN3A FEZF1 ZNF2 YY1 SLC30A9 ZNF766 ZNF143
ENSR00000109532 1093 401 ZFHX2 BACH1 ZBTB33 NR3C1 EZH2

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

Genes around SPTBN4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPTBN4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for SPTBN4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SPTBN4 Gene

Domains & Families for SPTBN4 Gene

Gene Families for SPTBN4 Gene

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

Suggested Antigen Peptide Sequences for SPTBN4 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H254

UniProtKB/Swiss-Prot:

SPTN4_HUMAN :
  • Belongs to the spectrin family.
Family:
  • Belongs to the spectrin family.
genes like me logo Genes that share domains with SPTBN4: view

Function for SPTBN4 Gene

Phenotypes From GWAS Catalog for SPTBN4 Gene

Gene Ontology (GO) - Molecular Function for SPTBN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA,TAS 11086001
GO:0005088 Ras guanyl-nucleotide exchange factor activity TAS --
GO:0005200 structural constituent of cytoskeleton TAS,IEA 11294830
GO:0005515 protein binding IPI 11086001
GO:0005543 phospholipid binding IEA --
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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SPTBN4
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
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 SPTBN4 gene
Compartment Confidence
extracellular 5
cytoskeleton 5
nucleus 5
cytosol 5
plasma membrane 4
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SPTBN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,ISS --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane ISS --
GO:0005912 adherens junction ISS --
genes like me logo Genes that share ontologies with SPTBN4: view

Pathways & Interactions for SPTBN4 Gene

SuperPathways for SPTBN4 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 SPTBN4: view

Gene Ontology (GO) - Biological Process for SPTBN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0002028 regulation of sodium ion transport ISS --
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0007010 cytoskeleton organization IEA --
GO:0007016 cytoskeletal anchoring at plasma membrane TAS 11086001
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
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SPTBN4
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for SPTBN4 Gene



NURSA nuclear receptor signaling pathways regulating expression of SPTBN4 Gene:

SPTBN4

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.

Evidence on tissue expression from TISSUES for SPTBN4 Gene

  • Heart(5)
  • Liver(4.9)
  • Nervous system(4.7)
  • Eye(3.8)
  • Adrenal gland(3.6)
  • Kidney(3.3)
  • Blood(3)
  • Gall bladder(2.4)
  • Intestine(2)
genes like me logo Genes that share expression patterns with SPTBN4: view

Primer Products

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 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
chimpanzee
(Pan troglodytes)
Mammalia SPTBN4 34
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SPTBN4 34 33
  • 92.32 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SPTBN4 34 33
  • 91.97 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sptbn4 33
  • 88.6 (n)
mouse
(Mus musculus)
Mammalia Sptbn4 33 16 34
  • 88.56 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SPTBN4 34
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SPTBN4 34
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 34
  • 39 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia SPTBN4 34
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sptbn4 33
  • 64.69 (n)
zebrafish
(Danio rerio)
Actinopterygii SPTBN4 (3 of 3) 34
  • 63 (a)
OneToMany
SPTBN4 (2 of 3) 34
  • 54 (a)
OneToMany
SPTBN4 (1 of 3) 34
  • 40 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta beta-Spec 34
  • 43 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea M116.5 35
  • 43 (a)
unc-70 34
  • 40 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 42 (a)
OneToMany
Species where no ortholog for SPTBN4 was found in the sources mined by GeneCards:
  • 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
rs767215372 Uncertain significance 40,497,587(+) GGCGC(A/G)GCTGC reference, missense
rs864309618 Uncertain significance 40,513,498(+) CAATG(A/G)CTGCT reference, stop-gained
rs1000026918 -- 40,546,720(+) GCTTG(A/T)AGTCC intron-variant
rs1000087727 -- 40,504,030(+) CTAAC(A/T)GGGCT reference, synonymous-codon
rs1000095790 -- 40,554,607(+) GTCGC(G/T)CCAGT reference, missense

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

Variant ID Type Subtype PubMed ID
esv1007999 CNV deletion 20482838
esv2667159 CNV deletion 23128226
esv2676684 CNV deletion 23128226
esv2718565 CNV deletion 23290073
esv3644351 CNV loss 21293372
esv3644352 CNV loss 21293372
esv3644353 CNV loss 21293372
esv3644355 CNV loss 21293372
esv3644356 CNV loss 21293372
esv992020 CNV loss 20482838
nsv138059 CNV insertion 16902084
nsv477924 CNV novel sequence insertion 20440878
nsv478209 CNV novel sequence insertion 20440878

Variation tolerance for SPTBN4 Gene

Residual Variation Intolerance Score: 21.3% 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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPTBN4

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

Disorders for SPTBN4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SPTBN4 Gene - From: OMIM and ClinVar

- elite association - COSMIC cancer census association via MalaCards

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 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 (The Journal of cell biology 2000) 2 3 4 22 60
  2. A new spectrin, beta IV, has a major truncated isoform that associates with promyelocytic leukemia protein nuclear bodies and the nuclear matrix. (PMID: 11294830) Tse WT … Lux SE (The Journal of biological chemistry 2001) 3 4 22 60
  3. 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
  4. 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
  5. 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

Products for SPTBN4 Gene

Sources for SPTBN4 Gene

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