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 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.
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 , 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
- 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
Regulatory Element Products
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:
-
- 19q13.2 by Entrez Gene
- 19q13.13 by HGNC
- 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
-
Custom Antibody ServicesOriGene Antibodies for SPTBN4
- Novus Biologicals Antibodies for SPTBN4
- Invitrogen Antibodies for SPTBN4
- Search GeneTex for Antibodies for SPTBN4
-
Santa Cruz Biotechnology (SCBT) Antibodies for SPTBN4
Protein Products
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- Search GeneTex for Proteins for SPTBN4
Assay Products
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
Protein Domains for SPTBN4 Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for SPTBN4 Gene
- GenScript: Design optimal peptide antigens:
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 | 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 | -- |
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
- Cyagen custom Knockout/knockin (KOKI) mouse models for SPTBN4
-
CRISPR Products
-
OriGene CRISPR knockouts for SPTBN4
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- genomics-online: gRNA clones - Search results for 71 available SPTBN4 gene related products
- Overview of 71 available SPTBN4 gene related products
- Applied Biological Materials CRISPR for SPTBN4
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SPTBN4
- GenScript: Design CRISPR guide RNA sequences for SPTBN4
miRNA Products
Inhibitory RNA Products
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- genomics-online: shRNA clones - Search results for 71 available SPTBN4 gene related products
- Overview of 71 available SPTBN4 gene related products
Clone Products
- Sino Biological Human cDNA Clone for SPTBN4
- VectorBuilder custom plasmid, inducible vectors for SPTBN4
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SPTBN4
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SPTBN4
- Applied Biological Materials Clones for SPTBN4
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for SPTBN4
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.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| cytoskeleton | 5 |
| nucleus | 5 |
| cytosol | 5 |
| plasma membrane | 4 |
| mitochondrion | 1 |
- Nucleoli (2)
- Nucleus (2)
| 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 | -- |
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 | ||
| 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
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
- (7) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (57) Selected AceView cDNA sequences:
- (14) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000595535 6105 bps (uc002onx.4)
- ENST00000352632 8676 bps (uc002ony.4)
- ENST00000598249 8070 bps (uc002onz.4)
- ENST00000598775 580 bps (uc060ysr.1)
- ENST00000597389 5957 bps (uc060yss.1)
Unigene Clusters for SPTBN4 Gene
- Spectrin, beta, non-erythrocytic 4:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for SPTBN4
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SPTBN4
- genomics-online: gRNA clones - Search results for 71 available SPTBN4 gene related products
- Overview of 71 available SPTBN4 gene related products
- Applied Biological Materials CRISPR for SPTBN4
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SPTBN4
- GenScript: Design CRISPR guide RNA sequences 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 results for 71 available SPTBN4 gene related products
- Overview of 71 available SPTBN4 gene related products
Clone Products
- Sino Biological Human cDNA Clone for SPTBN4
- VectorBuilder custom plasmid, inducible vectors for SPTBN4
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SPTBN4
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SPTBN4
- Applied Biological Materials Clones for SPTBN4
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: |
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
NURSA nuclear receptor signaling pathways regulating expression of SPTBN4 Gene:
SPTBN4SOURCE 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 results for 71 available SPTBN4 gene related products
- Overview of 71 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 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | SPTBN4 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | SPTBN4 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Sptbn4 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Sptbn4 16 34 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | SPTBN4 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | SPTBN4 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | -- 34 |
|
ManyToMany | |
| lizard (Anolis carolinensis) |
Reptilia | SPTBN4 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | sptbn4 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | SPTBN4 (3 of 3) 34 |
|
OneToMany | |
| SPTBN4 (2 of 3) 34 |
|
OneToMany | |||
| SPTBN4 (1 of 3) 34 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | beta-Spec 34 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | M116.5 35 |
|
|
|
| unc-70 34 |
|
OneToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
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)
- Aminode:
- 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:
- SPTN4_HUMAN
- C9JRP8_HUMAN
- C9JY79_HUMAN
- M0QZQ3_HUMAN
- M0R1V6_HUMAN
Variants 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 |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPTBN4 Gene
Disorders for SPTBN4 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| myopathy, congenital, with neuropathy and deafness |
|
|
| myopathy, congenital |
|
|
| schizophrenia 1 |
|
|
Search SPTBN4 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
SPTN4_HUMAN- 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
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for SPTBN4 Gene
Publications for SPTBN4 Gene
- 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
- 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
- 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
- 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
- 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
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- Browse OriGene miRNA Products For SPTBN4
- GenScript: Next-day shipping of latest version cDNA ORF clones for SPTBN4 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for SPTBN4
- GenScript Custom Assay Services for SPTBN4
- GenScript Custom overexpressing Cell Line Services for SPTBN4
- GenScript: Design CRISPR guide RNA sequences for SPTBN4
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for SPTBN4
- Sino Biological Human cDNA Clone for SPTBN4
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for SPTBN4
- Novus Biologicals proteins for SPTBN4
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Cyagen custom Knockout/knockin (KOKI) mouse models for SPTBN4
- VectorBuilder custom plasmid, inducible vectors for SPTBN4
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SPTBN4
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 23 available SPTBN4 Antibodies ranked by validation data
- Compare Top SPTBN4 Antibodies
- antibodies-online: Search results for 12 available SPTBN4 Elisa Kits ranked by validation data
- Compare Top SPTBN4 Elisa Kits
- antibodies-online: Search results for available SPTBN4 related products ranked by validation data
- Search GeneTex for Antibodies for SPTBN4
- Search GeneTex for Proteins for SPTBN4
- Santa Cruz Biotechnology (SCBT) Antibodies for SPTBN4
- Search Santa Cruz Biotechnology (SCBT) for SPTBN4 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for SPTBN4
- Horizon Cell Lines for SPTBN4
- genomics-online: cdna clones - Search results for 71 available SPTBN4 gene related products
- Overview of 71 available SPTBN4 gene related products
- orf clones - Search results for 71 available SPTBN4 gene related products
- Overview of 71 available SPTBN4 gene related products
- genomics-online: gRNA clones - Search results for 71 available SPTBN4 gene related products
- Overview of 71 available SPTBN4 gene related products
- genomics-online: primer clones - Search results for 71 available SPTBN4 gene related products
- Overview of 71 available SPTBN4 gene related products
- genomics-online: shRNA clones - Search results for 71 available SPTBN4 gene related products
- Overview of 71 available SPTBN4 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SPTBN4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SPTBN4
- GeneCopoeia miRNA 3'UTR Target clone products for SPTBN4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPTBN4
Sources for SPTBN4 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133)