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 ... See more...

Aliases for SPTBN4 Gene

Aliases for SPTBN4 Gene

  • Spectrin Beta, Non-Erythrocytic 4 2 3 5
  • Spectrin Beta Chain, Non-Erythrocytic 4 3 4
  • Spectrin, Non-Erythroid Beta Chain 3 3 4
  • Beta-IV Spectrin 3 4
  • SPTBN3 3 4
  • Spectrin Beta Chain, Brain 3 3
  • KIAA1642 4
  • NEDHND 3
  • 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 Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness and Hypotonia. Among its related pathways are Metabolism of proteins and RET signaling. 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 Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SPTBN4 Gene

Genomics for SPTBN4 Gene

GeneHancer (GH) Regulatory Elements for SPTBN4 Gene

Promoters and enhancers for SPTBN4 Gene
- 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

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SPTBN4

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

Genomic Locations for SPTBN4 Gene

Genomic Locations for SPTBN4 Gene
chr19:40,466,107-40,576,464
(GRCh38/hg38)
Size:
110,358 bases
Orientation:
Plus strand
chr19:40,972,148-41,082,370
(GRCh37/hg19)
Size:
110,223 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):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for SPTBN4 Gene

Blocks:
  • Pleckstrin-like
  • Actin-binding, actinin-type
  • Calponin-like actin-binding
  • Spectrin repeat
  • Spectrin pleckstrin homology domain signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SPTBN4 Gene

GenScript: Design optimal peptide antigens:
  • Spectrin beta IV (Q9H253_HUMAN)
  • Spectrin, non-erythroid beta chain 3 (SPTN4_HUMAN)

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:0005200 structural constituent of cytoskeleton IEA,TAS 11294830
GO:0005515 protein binding IPI,IEA 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

Human Phenotype Ontology for SPTBN4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SPTBN4 Gene

MGI Knock Outs for SPTBN4:

Clone 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
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
cytoskeleton 5
nucleus 5
cytosol 5
plasma membrane 4
extracellular 1
mitochondrion 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for SPTBN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005737 cytoplasm IEA,IDA 11294830
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane ISS --
genes like me logo Genes that share ontologies with SPTBN4: view

Pathways & Interactions for SPTBN4 Gene

PathCards logo

SuperPathways for SPTBN4 Gene

SuperPathway Contained pathways
1 RET signaling
2 Transport to the Golgi and subsequent modification
3 Sertoli-Sertoli Cell Junction Dynamics
.38
.36
4 Developmental Biology
5 Cytokine Signaling in Immune system
genes like me logo Genes that share pathways with SPTBN4: view

Pathways by source for SPTBN4 Gene

2 Qiagen pathways for SPTBN4 Gene
  • Epithelial Tight Junctions
  • Sertoli-Sertoli Cell Junction Dynamics

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

mRNA/cDNA for SPTBN4 Gene

2 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

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: -
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

Expression for SPTBN4 Gene

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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SPTBN4

SOURCE GeneReport for Unigene cluster for SPTBN4 Gene:

Hs.32706

mRNA Expression by UniProt/SwissProt for SPTBN4 Gene:

Q9H254-SPTN4_HUMAN
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
chimpanzee
(Pan troglodytes)
Mammalia SPTBN4 31
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SPTBN4 31 30
  • 92.32 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SPTBN4 31 30
  • 91.97 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sptbn4 30
  • 88.6 (n)
mouse
(Mus musculus)
Mammalia Sptbn4 17 31 30
  • 88.56 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SPTBN4 31
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SPTBN4 31
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 31
  • 39 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia SPTBN4 31
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sptbn4 30
  • 64.69 (n)
zebrafish
(Danio rerio)
Actinopterygii SPTBN4 (3 of 3) 31
  • 63 (a)
OneToMany
SPTBN4 (2 of 3) 31
  • 54 (a)
OneToMany
SPTBN4 (1 of 3) 31
  • 40 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta beta-Spec 31
  • 43 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea M116.5 32
  • 43 (a)
unc-70 31
  • 40 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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