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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
External Ids for SPTBN4 Gene
- HGNC: 14896
- Entrez Gene: 57731
- Ensembl: ENSG00000160460
- OMIM: 606214
- UniProtKB: Q9H254
Previous GeneCards Identifiers for SPTBN4 Gene
- GC19P041612
- GC19P041364
- GC19P045649
- GC19P045664
- GC19P045663
- GC19P040973
- GC19P037385
Summaries 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.
Additional gene information for SPTBN4 Gene
- Monarch Initiative
- Search for SPTBN4 at DataMed
- Search for SPTBN4 at HumanCyc
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:
-
- 19q13.13 by HGNC
- 19q13.2 by Entrez Gene
- 19q13.2 by Ensembl
SPTBN4 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
Protein Expression for SPTBN4 Gene
Post-translational modifications for SPTBN4 Gene
Other Protein References for SPTBN4 Gene
Antibody Products
- G Biosciences Immunotag™ SPTN4 Polyclonal Antibody
- Creative Diagnostics Anti-SPTBN4 polyclonal antibody
- Novus Biologicals Antibodies for SPTBN4
- Invitrogen Antibodies for SPTBN4 (AFLGC-SPTBN4)
-
Santa Cruz Biotechnology (SCBT) Antibodies for SPTBN4
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for SPTBN4
- Origene Custom Protein Services for SPTBN4
- Novus Biologicals proteins for SPTBN4
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- Family:
-
- Belongs to the spectrin family.
Function for SPTBN4 Gene
Phenotypes From GWAS Catalog 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 |
Phenotypes for SPTBN4 Gene
- MGI mutant phenotypes for SPTBN4:
- inferred from 15 alleles
- GenomeRNAi human phenotypes for SPTBN4:
-
- Increased shRNA abundance (Z-score > 2)
- Reduced mammosphere formation
- Decreased shRNA abundance (Z-score < -2)
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Decreased hepcidin::fluc mRNA expression
- Decreased Dengue Infection
- Decreased infection with West Nile virus (WNV)
- Decreased West Nile virus (WNV) infection
Animal Models for SPTBN4 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SPTBN4 - Select products 50% OFF >
- * SPTBN4 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SPTBN4
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SPTBN4
- genomics-online: gRNA clones - Search for available SPTBN4 gRNA products
- Overview of 75 available SPTBN4 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for SPTBN4
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SPTBN4
- Browse OriGene Inhibitory RNA Products For SPTBN4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPTBN4
- genomics-online: shRNA clones - Search for available SPTBN4 shRNA products
- Overview of 75 available SPTBN4 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for SPTBN4 - Select products 50% OFF >
- * SPTBN4 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for SPTBN4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SPTBN4
- genomics-online: cdna clones - Search for available SPTBN4 CDNA products
- Overview of 75 available SPTBN4 gene related products
- orf clones - Search for available SPTBN4 ORF products
- Overview of 75 available SPTBN4 gene related products
Cell Line Products
-
Horizon Cell Lines for SPTBN4
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.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| nucleus | 5 |
| cytosol | 5 |
| plasma membrane | 4 |
| extracellular | 1 |
| mitochondrion | 1 |
- Nucleoli (2)
- Nucleoplasm (2)
| 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 | -- |
Pathways & Interactions for SPTBN4 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | RET signaling |
.92
|
.92
|
| 2 | Transport to the Golgi and subsequent modification | ||
| 3 | Sertoli-Sertoli Cell Junction Dynamics |
Sertoli-Sertoli Cell Junction Dynamics
.38
|
Epithelial Tight Junctions
.36
|
| 4 | Developmental Biology |
.51
|
|
| 5 | Cytokine Signaling in Immune system | ||
Pathways by source for SPTBN4 Gene
56 Reactome pathways for SPTBN4 Gene
2 Qiagen pathways for SPTBN4 Gene
- Epithelial Tight Junctions
- Sertoli-Sertoli Cell Junction Dynamics
Interacting Proteins for SPTBN4 Gene
Selected Interacting proteins:
Q9H254-SPTN4_HUMAN
ENSP00000263373
for SPTBN4 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for SPTBN4
| 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 |
No data available for SIGNOR curated interactions for SPTBN4 Gene
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 :
-
- ENST00000338932 8686 bps (ENST00000338932.7)
- ENST00000352632 8676 bps (ENST00000352632.7)
- ENST00000392023 2419 bps (ENST00000392023.1)
- ENST00000392025 8671 bps (ENST00000392025.5)
- ENST00000593816 712 bps (ENST00000593816.1)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SPTBN4 - Select products 50% OFF >
- * SPTBN4 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SPTBN4
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SPTBN4
- genomics-online: gRNA clones - Search for available SPTBN4 gRNA products
- Overview of 75 available SPTBN4 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for SPTBN4
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SPTBN4
- Browse OriGene Inhibitory RNA Products For SPTBN4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPTBN4
- genomics-online: shRNA clones - Search for available SPTBN4 shRNA products
- Overview of 75 available SPTBN4 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for SPTBN4 - Select products 50% OFF >
- * SPTBN4 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for SPTBN4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SPTBN4
- genomics-online: cdna clones - Search for available SPTBN4 CDNA products
- Overview of 75 available SPTBN4 gene related products
- orf clones - Search for available SPTBN4 ORF products
- Overview of 75 available SPTBN4 gene related products
| 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 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).
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.32706mRNA 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)
Primer Products
-
OriGene qPCR primer pairs for SPTBN4
- genomics-online: primer clones - Search for available SPTBN4 Primer products
- Overview of 75 available SPTBN4 gene related products
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | SPTBN4 31 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | SPTBN4 31 30 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | SPTBN4 31 30 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Sptbn4 30 |
|
||
| mouse (Mus musculus) |
Mammalia | Sptbn4 17 31 30 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | SPTBN4 31 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | SPTBN4 31 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | -- 31 |
|
ManyToMany | |
| lizard (Anolis carolinensis) |
Reptilia | SPTBN4 31 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | sptbn4 30 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | SPTBN4 (3 of 3) 31 |
|
OneToMany | |
| SPTBN4 (2 of 3) 31 |
|
OneToMany | |||
| SPTBN4 (1 of 3) 31 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | beta-Spec 31 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | M116.5 32 |
|
|
|
| unc-70 31 |
|
OneToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
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)