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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 and Myopathy, Congenital. Among its related pathways are RET signaling and Transport to the Golgi and subsequent modification. Gene Ontology (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

GeneHancer (GH) Regulatory Elements for SPTBN4 Gene

Promoters and enhancers for SPTBN4 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J040462 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 650.7 -0.9 -895 4.5 CLOCK FEZF1 IRF4 YY1 ZNF213 E2F8 ZNF416 ZNF143 ZNF548 SP3 BLVRB SPTBN4 ENSG00000269843 SNRPA HNRNPUL1 AKT2 CCDC97 ZNF780B FBL SERTAD3
GH19J040530 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 650.2 +64.5 64494 0.4 RB1 ZNF493 SIN3A ZNF766 GLIS2 CREM SP3 ZBTB11 MIER2 ZNF398 SPTBN4 ZNF780B GC19M040397
GH19J040467 Enhancer 0.2 ENCODE 650.7 +1.4 1425 0.1 SPTBN4 BLVRB GC19M040397
GH19J040596 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 25.1 +135.6 135589 10 CLOCK MLX FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF416 ZNF143 ZNF548 LTBP4 HNRNPUL1 SNRPA ENSG00000269843 ZNF780B CCDC97 ZNF780A AKT2 FBL COQ8B
GH19J041261 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 14 +798.7 798743 7.3 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC MEF2D HNRNPUL1 ZNF526 ZNF574 CCDC97 SNRPA ENSG00000269843 CYP2F2P NUMBL ITPKC ENSG00000271299
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SPTBN4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SPTBN4 gene promoter:
  • Bach1
  • Ik-2
  • N-Myc
  • c-Ets-1
  • XBP-1
  • Pax-4a
  • SEF-1 (1)
  • MyoD
  • NF-1/L
  • NF-1

Genomic Locations for SPTBN4 Gene

Genomic Locations for SPTBN4 Gene
110,358 bases
Plus strand
110,223 bases
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:
    Recommended name:
    Spectrin beta chain, non-erythrocytic 4
    Protein Accession:
    Secondary Accessions:
    • E9PGQ5
    • Q9H1K7
    • Q9H1K8
    • Q9H1K9
    • Q9H253
    • Q9H3G8
    • Q9HCD0

    Protein attributes for SPTBN4 Gene

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

    Alternative splice isoforms for SPTBN4 Gene


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

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

Suggested Antigen Peptide Sequences for SPTBN4 Gene

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 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 TAS,IEA 11086001
GO:0005088 Ras guanyl-nucleotide exchange factor activity TAS --
GO:0005200 structural constituent of cytoskeleton TAS,IEA 11294830
GO:0005515 protein binding IPI,IEA 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

Clone Products

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

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 ISS,IEA --
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:

Clone 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: -
SP8: - - -

ExUns: 20c ^ 21 ^ 22a · 22b ^ 23 ^ 24a · 24b ^ 25a · 25b ^ 26a · 26b ^ 27a · 27b · 27c
SP3: -
SP5: - -
SP6: -
SP10: -

Relevant External Links for SPTBN4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

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, MaxQB, and MOPED for SPTBN4 Gene

NURSA nuclear receptor signaling pathways regulating expression of SPTBN4 Gene:


SOURCE GeneReport for Unigene cluster for SPTBN4 Gene:


mRNA Expression by UniProt/SwissProt for SPTBN4 Gene:

Tissue specificity: Expressed in skeletal muscle at the sarcolemma and in the muscle capillaries (at protein level) (PubMed:28540413). Abundantly expressed in brain and pancreatic islets (PubMed:11086001).

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

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
(Pan troglodytes)
Mammalia SPTBN4 34
  • 100 (a)
(Canis familiaris)
Mammalia SPTBN4 34 33
  • 92.32 (n)
(Bos Taurus)
Mammalia SPTBN4 34 33
  • 91.97 (n)
(Rattus norvegicus)
Mammalia Sptbn4 33
  • 88.6 (n)
(Mus musculus)
Mammalia Sptbn4 16 34 33
  • 88.56 (n)
(Ornithorhynchus anatinus)
Mammalia SPTBN4 34
  • 82 (a)
(Monodelphis domestica)
Mammalia SPTBN4 34
  • 69 (a)
(Gallus gallus)
Aves -- 34
  • 39 (a)
(Anolis carolinensis)
Reptilia SPTBN4 34
  • 66 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia sptbn4 33
  • 64.69 (n)
(Danio rerio)
Actinopterygii SPTBN4 (3 of 3) 34
  • 63 (a)
SPTBN4 (2 of 3) 34
  • 54 (a)
SPTBN4 (1 of 3) 34
  • 40 (a)
fruit fly
(Drosophila melanogaster)
Insecta beta-Spec 34
  • 43 (a)
(Caenorhabditis elegans)
Secernentea M116.5 35
  • 43 (a)
unc-70 34
  • 40 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 42 (a)
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

Gene Tree for SPTBN4 (if available)
Gene Tree for SPTBN4 (if available)
Evolutionary constrained regions (ECRs) for SPTBN4: view image

Paralogs for SPTBN4 Gene

Paralogs for SPTBN4 Gene

(16) SIMAP similar genes for SPTBN4 Gene using alignment to 5 proteins:

  • C9JY79_HUMAN
  • M0R1V6_HUMAN
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 Variation AA Info Type
rs767215372 uncertain-significance, not specified 40,497,587(+) G/A coding_sequence_variant, genic_upstream_transcript_variant, missense_variant
rs864309618 uncertain-significance, not specified 40,513,498(+) G/A coding_sequence_variant, genic_upstream_transcript_variant, stop_gained
rs1000026918 -- 40,546,720(+) T/A genic_downstream_transcript_variant, intron_variant
rs1000087727 -- 40,504,030(+) T/A coding_sequence_variant, genic_upstream_transcript_variant, synonymous_variant
rs1000095790 -- 40,554,607(+) G/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant

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)

Additional Variant Information for SPTBN4 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 SPTBN4 Gene

Disorders for SPTBN4 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SPTBN4 Gene - From: HGMD, OMIM, ClinVar, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
myopathy, congenital, with neuropathy and deafness
  • cmnd
myopathy, congenital
  • batten-turner congenital myopathy
schizophrenia 1
  • sczd1
- elite association - COSMIC cancer census association via MalaCards


  • Myopathy, congenital, with neuropathy and deafness (CMND) [MIM:617519]: An autosomal recessive congenital myopathy characterized by hypotonia and muscle weakness manifesting after birth and progressing to generalized muscle atrophy, central deafness with absent brainstem-evoked potentials, and a combined axonal and demyelinating motor neuropathy. {ECO:0000269 PubMed:28540413}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SPTBN4

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

No data available for 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 58
  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 58
  3. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M … Yamada Y (American journal of hypertension 2010) 3 44 58
  4. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T … Yamada Y (International journal of molecular medicine 2010) 3 44 58
  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 44 58

Products for SPTBN4 Gene

Sources for SPTBN4 Gene