Aliases for SPTBN2 Gene
Aliases for SPTBN2 Gene
External Ids for SPTBN2 Gene
- HGNC: 11276
- Entrez Gene: 6712
- Ensembl: ENSG00000173898
- OMIM: 604985
- UniProtKB: O15020
Previous HGNC Symbols for SPTBN2 Gene
- SCA5
Previous GeneCards Identifiers for SPTBN2 Gene
- GC11M068986
- GC11M068134
- GC11M066228
- GC11M066209
- GC11M066453
- GC11M062780
Summaries for SPTBN2 Gene
-
Spectrins are principle components of a cell's membrane-cytoskeleton and are composed of two alpha and two beta spectrin subunits. The protein encoded by this gene (SPTBN2), is called spectrin beta non-erythrocytic 2 or beta-III spectrin. It is related to, but distinct from, the beta-II spectrin gene which is also known as spectrin beta non-erythrocytic 1 (SPTBN1). SPTBN2 regulates the glutamate signaling pathway by stabilizing the glutamate transporter EAAT4 at the surface of the plasma membrane. Mutations in this gene cause a form of spinocerebellar ataxia, SCA5, that is characterized by neurodegeneration, progressive locomotor incoordination, dysarthria, and uncoordinated eye movements. [provided by RefSeq, Dec 2009]
GeneCards Summary for SPTBN2 Gene
SPTBN2 (Spectrin Beta, Non-Erythrocytic 2) is a Protein Coding gene. Diseases associated with SPTBN2 include Spinocerebellar Ataxia 5 and Spinocerebellar Ataxia, Autosomal Recessive 14. 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.
UniProtKB/Swiss-Prot for SPTBN2 Gene
-
Probably plays an important role in neuronal membrane skeleton.
Additional gene information for SPTBN2 Gene
- Monarch Initiative
- Search for SPTBN2 at DataMed
- Search for SPTBN2 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPTBN2 Gene
Genomics for SPTBN2 Gene
GeneHancer (GH) Regulatory Elements for SPTBN2 Gene
Promoters and enhancers for SPTBN2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around SPTBN2 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for SPTBN2 Gene
Genomic Locations for SPTBN2 Gene
- chr11:66,682,496-66,729,237
- (GRCh38/hg38)
- Size:
- 46,742 bases
- Orientation:
- Minus strand
- chr11:66,452,719-66,496,697
- (GRCh37/hg19)
Genomic View for SPTBN2 Gene
Genes around SPTBN2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11q13.2 by Ensembl
- 11q13.2 by Entrez Gene
- 11q13.2 by HGNC
SPTBN2 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 SPTBN2 Gene
Proteins for SPTBN2 Gene
-
Protein details for SPTBN2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O15020-SPTN2_HUMAN
- Recommended name:
- Spectrin beta chain, non-erythrocytic 2
- Protein Accession:
- O15020
- O14872
- O14873
Protein attributes for SPTBN2 Gene
- Size:
- 2390 amino acids
- Molecular mass:
- 271325 Da
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=BAA32700.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
Protein Expression for SPTBN2 Gene
Post-translational modifications for SPTBN2 Gene
Other Protein References for SPTBN2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for SPTBN2 (beta-III Spectrin)
- Novus Biologicals Antibodies for SPTBN2
- Invitrogen Antibodies for SPTBN2
- antibodies-online: Search results for 190 available SPTBN2 Antibodies ranked by validation data
- Compare Top SPTBN2 Antibodies
-
Recommended
- 1 IHC Antibody (anti-rat)
- 5 IHC (p) Antibodies (anti-rat)
- 6 FACS Antibodies (anti-rat)
- 40 WB Antibodies (anti-rat)
- 6 IHC Antibodies (anti-human)
- 8 IP Antibodies (anti-human)
- 10 IHC (p) Antibodies (anti-human)
- 17 FACS Antibodies (anti-human)
- 147 WB Antibodies (anti-human)
- 2 IHC Antibodies (anti-mouse)
- 3 IHC (p) Antibodies (anti-mouse)
- 9 FACS Antibodies (anti-mouse)
- 57 WB Antibodies (anti-mouse)
- Search GeneTex for Antibodies for SPTBN2
-
Santa Cruz Biotechnology (SCBT) Antibodies for SPTBN2
Protein Products
-
OriGene Purified Proteins for SPTBN2
- Search Origene for MassSpec and Protein Over-expression Lysates for SPTBN2
- Origene Custom Protein Services for SPTBN2
- Novus Biologicals proteins for SPTBN2
- Search GeneTex for Proteins for SPTBN2
Assay Products
No data available for DME Specific Peptides for SPTBN2 Gene
Domains & Families for SPTBN2 Gene
Gene Families for SPTBN2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for SPTBN2 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for SPTBN2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
O15020- Family:
-
- Belongs to the spectrin family.
Function for SPTBN2 Gene
Molecular function for SPTBN2 Gene
- UniProtKB/Swiss-Prot Function:
- Probably plays an important role in neuronal membrane skeleton.
Phenotypes From GWAS Catalog for SPTBN2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003779 | actin binding | IEA | -- |
| GO:0005088 | Ras guanyl-nucleotide exchange factor activity | TAS | -- |
| GO:0005200 | structural constituent of cytoskeleton | TAS | 9826670 |
| GO:0005543 | phospholipid binding | IEA | -- |
| GO:0045296 | cadherin binding | IDA | 25468996 |
Phenotypes for SPTBN2 Gene
- MGI mutant phenotypes for SPTBN2:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for SPTBN2:
Animal Models for SPTBN2 Gene
- MGI Knock Outs for SPTBN2:
-
- Sptbn2 tm1b(EUCOMM)Hmgu
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for SPTBN2
-
-
ViGene Biosciences lentiviral particle packaged cDNA for SPTBN2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SPTBN2 gene
- Search ViGene Biosciences for SPTBN2
CRISPR Products
-
OriGene CRISPR knockouts for SPTBN2
- genomics-online: gRNA clones - Search results for available SPTBN2 gene related products
- Applied Biological Materials CRISPR for SPTBN2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SPTBN2
- GenScript: Design CRISPR guide RNA sequences for SPTBN2
miRNA for SPTBN2 Gene
- miRTarBase miRNAs that target SPTBN2
-
- hsa-mir-335-5p (MIRT018419)
- hsa-mir-16-5p (MIRT031841)
- hsa-mir-330-5p (MIRT038253)
- hsa-mir-193b-3p (MIRT041544)
- hsa-mir-222-3p (MIRT046696)
- hsa-let-7b-5p (MIRT052103)
- hsa-mir-3620-5p (MIRT508370)
- hsa-mir-1587 (MIRT508371)
- hsa-mir-106a-3p (MIRT508372)
- hsa-mir-4684-3p (MIRT508373)
- hsa-mir-7847-3p (MIRT508374)
- hsa-mir-6880-5p (MIRT508375)
- hsa-mir-4741 (MIRT508376)
- hsa-mir-4675 (MIRT508377)
- hsa-mir-762 (MIRT508378)
- hsa-mir-5001-5p (MIRT508379)
- hsa-mir-4498 (MIRT508380)
- hsa-mir-4492 (MIRT508381)
- hsa-mir-6829-5p (MIRT508382)
- hsa-mir-6851-5p (MIRT508383)
- hsa-mir-4656 (MIRT508384)
- hsa-mir-3689d (MIRT508385)
- hsa-mir-6086 (MIRT508386)
- hsa-mir-377-5p (MIRT508387)
- hsa-mir-6840-3p (MIRT508388)
- hsa-mir-6134 (MIRT508389)
- hsa-mir-665 (MIRT508390)
- hsa-mir-4459 (MIRT508391)
- hsa-mir-1273e (MIRT514786)
- hsa-mir-4709-5p (MIRT639129)
- hsa-mir-4733-5p (MIRT639130)
- hsa-mir-450a-1-3p (MIRT698884)
- hsa-mir-6783-3p (MIRT698885)
- hsa-mir-1343-3p (MIRT698886)
- hsa-mir-2355-5p (MIRT698887)
- hsa-mir-8059 (MIRT698888)
- hsa-mir-4471 (MIRT698889)
- hsa-mir-1292-5p (MIRT698890)
- hsa-mir-6886-3p (MIRT698891)
- hsa-mir-938 (MIRT698892)
- hsa-mir-4645-3p (MIRT698893)
- hsa-mir-18a-3p (MIRT698894)
- hsa-mir-3189-3p (MIRT698895)
- hsa-mir-584-3p (MIRT698896)
- hsa-mir-5190 (MIRT698897)
- hsa-mir-4446-3p (MIRT698898)
- hsa-mir-4802-3p (MIRT698899)
- hsa-mir-542-3p (MIRT698900)
miRNA Products
- Search ViGene Biosciences for SPTBN2
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for SPTBN2
- Browse OriGene Inhibitory RNA Products For SPTBN2
- genomics-online: shRNA clones - Search results for available SPTBN2 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for SPTBN2 gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for SPTBN2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SPTBN2
-
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
- genomics-online: cdna clones - Search results for available SPTBN2 gene related products
- orf clones - Search results for available SPTBN2 gene related products
- Applied Biological Materials Clones for SPTBN2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for SPTBN2
-
ViGene Biosciences adenoviral particle packaged cDNA for SPTBN2 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for SPTBN2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SPTBN2 gene
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SPTBN2 Gene
Localization for SPTBN2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SPTBN2 Gene
- Cytoplasm, cytoskeleton. Cytoplasm, cell cortex.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| cytoskeleton | 5 |
| cytosol | 5 |
| plasma membrane | 3 |
| nucleus | 2 |
| golgi apparatus | 1 |
- Cell Junctions (3)
- Cytosol (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005615 | extracellular space | HDA,IDA | 22664934 |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | IDA,TAS | -- |
| GO:0005856 | cytoskeleton | IEA | -- |
| GO:0005938 | cell cortex | IEA | -- |
Pathways & Interactions for SPTBN2 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 SPTBN2 Gene
58 Reactome pathways for SPTBN2 Gene
2 Qiagen pathways for SPTBN2 Gene
Interacting Proteins for SPTBN2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000165 | MAPK cascade | TAS | -- |
| GO:0006888 | ER to Golgi vesicle-mediated transport | TAS | -- |
| GO:0007010 | cytoskeleton organization | IEA | -- |
| GO:0007411 | axon guidance | TAS | -- |
| GO:0007416 | synapse assembly | IEA | -- |
No data available for SIGNOR curated interactions for SPTBN2 Gene
Transcripts for SPTBN2 Gene
mRNA/cDNA for SPTBN2 Gene
- (12) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (140) Selected AceView cDNA sequences:
- (11) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for SPTBN2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for SPTBN2
- genomics-online: gRNA clones - Search results for available SPTBN2 gene related products
- Applied Biological Materials CRISPR for SPTBN2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SPTBN2
- GenScript: Design CRISPR guide RNA sequences for SPTBN2
miRNA Products
- Search ViGene Biosciences for SPTBN2
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for SPTBN2
- Browse OriGene Inhibitory RNA Products For SPTBN2
- genomics-online: shRNA clones - Search results for available SPTBN2 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for SPTBN2 gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for SPTBN2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SPTBN2
-
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
- genomics-online: cdna clones - Search results for available SPTBN2 gene related products
- orf clones - Search results for available SPTBN2 gene related products
- Applied Biological Materials Clones for SPTBN2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11a | · | 11b | ^ | 12 | ^ | 13a | · | 13b | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21a | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: |
| ExUns: | 21b | ^ | 22 | ^ | 23 | ^ | 24a | · | 24b | ^ | 25 | ^ | 26a | · | 26b | ^ | 27 | ^ | 28 | ^ | 29 | ^ | 30a | · | 30b | ^ | 31a | · | 31b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||||||||
| SP2: | |||||||||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||||||
| SP5: | - | ||||||||||||||||||||||||||||
| SP6: | |||||||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||||
| SP8: | |||||||||||||||||||||||||||||
| SP9: | |||||||||||||||||||||||||||||
| SP10: | |||||||||||||||||||||||||||||
| SP11: | |||||||||||||||||||||||||||||
| SP12: |
Expression for SPTBN2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Gonad
-
Tooth (Integumentary System)
- Dental Placode Cells Dental Placode
-
Epithelial Cells
- Dental Placode Cells Dental Placode
-
Liver (Hepatobiliary System)
- Hepatocytes Liver Lobule
- Germ Cells (Reproductive System)
-
Placenta (Extraembryonic Tissues)
- Primordial Germ Cells Allantois
mRNA differential expression in normal tissues according to GTEx for SPTBN2 Gene
This gene is overexpressed in Brain - Cerebellum (x4.3) and Brain - Cortex (x4.1).
This gene is overexpressed in Frontal cortex (18.9), Salivary gland (9.7), Retina (6.2), and Cervix (6.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SPTBN2 Gene
NURSA nuclear receptor signaling pathways regulating expression of SPTBN2 Gene:
SPTBN2SOURCE GeneReport for Unigene cluster for SPTBN2 Gene:
Hs.26915mRNA Expression by UniProt/SwissProt for SPTBN2 Gene:
O15020-SPTN2_HUMAN
Tissue specificity:
Highly expressed in brain, kidney, pancreas, and liver, and at lower levels in lung and placenta.
Evidence on tissue expression from TISSUES for SPTBN2 Gene
- Heart(5)
- Liver(4.9)
- Nervous system(4.7)
- Adrenal gland(4)
- Lung(3.7)
- Blood(3.6)
- Kidney(3.6)
- Gall bladder(3.3)
- Pancreas(3.3)
- Eye(2.7)
- Intestine(2.5)
Phenotype-based relationships between genes and organs from Gene ORGANizer for SPTBN2 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- nervous
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cerebellum
- cranial nerve
- eye
- face
- head
Limb:
- lower limb
- upper limb
General:
- peripheral nerve
- peripheral nervous system
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for SPTBN2
- genomics-online: primer clones - Search results for available SPTBN2 gene related products
Gene Expression Assay Products
No data available for Protein tissue co-expression partners for SPTBN2 Gene
Orthologs for SPTBN2 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | SPTBN2 33 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | SPTBN2 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | SPTBN2 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | SPTBN2 34 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Sptbn2 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Sptbn2 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | SPTBN2 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | SPTBN2 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | SPTBN2 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100486199 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | LOC558044 33 |
|
||
| sptbn2 34 |
|
OneToOne | |||
| fruit fly (Drosophila melanogaster) |
Insecta | bgr-Spec 35 |
|
|
|
| beta-Spec 34 |
|
OneToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | unc-70 35 34 |
|
||
| M116.5 35 |
|
|
|||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany |
- Species where no ortholog for SPTBN2 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)
Paralogs for SPTBN2 Gene
Paralogs for SPTBN2 Gene
(18) SIMAP similar genes for SPTBN2 Gene using alignment to 5 proteins:
Variants for SPTBN2 Gene
| SNP ID | Clin | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs11227572 | likely-benign, Spinocerebellar Ataxia, Dominant | 66,692,959(-) | G/A/C | genic_downstream_transcript_variant, intron_variant | |
| rs114241603 | benign, likely-benign, not specified, Spinocerebellar Ataxia, Dominant | 66,700,817(-) | C/T | coding_sequence_variant, synonymous_variant | |
| rs114331192 | likely-benign, Spinocerebellar Ataxia, Dominant | 66,710,912(-) | A/G | intron_variant | |
| rs114788199 | likely-benign, benign, Spinocerebellar Ataxia, Dominant, Spinocerebellar ataxia 5 | 66,699,496(-) | T/C | coding_sequence_variant, missense_variant | |
| rs115062978 | likely-benign, Spinocerebellar Ataxia, Dominant | 66,694,195(-) | G/A | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant |
Residual Variation Intolerance Score:
0.518% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.21;
69.89% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SPTBN2 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPTBN2 Gene
Disorders for SPTBN2 Gene
(12) MalaCards diseases for SPTBN2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| spinocerebellar ataxia 5 |
|
|
| spinocerebellar ataxia, autosomal recessive 14 |
|
|
| spinocerebellar ataxia 20 |
|
|
| cerebral palsy, ataxic, autosomal recessive |
|
|
| spinocerebellar ataxia 15 |
|
|
Search SPTBN2 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
SPTN2_HUMAN- Spinocerebellar ataxia 5 (SCA5) [MIM:600224]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA5 is an autosomal dominant cerebellar ataxia (ADCA). It is a slowly progressive disorder with variable age at onset, ranging between 10 and 50 years. {ECO:0000269 PubMed:16429157, ECO:0000269 PubMed:22914369}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Spinocerebellar ataxia, autosomal recessive, 14 (SCAR14) [MIM:615386]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR14 is characterized by delayed psychomotor development, severe early onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disability. {ECO:0000269 PubMed:23236289, ECO:0000269 PubMed:23838597}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for SPTBN2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for SPTBN2 Gene
Publications for SPTBN2 Gene
- Spectrin mutations cause spinocerebellar ataxia type 5. (PMID: 16429157) Ikeda Y … Ranum LP (Nature genetics 2006) 2 3 4 22 58
- A widely expressed betaIII spectrin associated with Golgi and cytoplasmic vesicles. (PMID: 9826670) Stankewich MC … Lux SE (Proceedings of the National Academy of Sciences of the United States of America 1998) 2 3 4 22 58
- Screening of the SPTBN2 (SCA5) gene in German SCA patients. (PMID: 17940722) Zühlke C … Bürk K (Journal of neurology 2007) 3 22 44 58
- Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations. (PMID: 23838597) Elsayed SM … Bolz HJ (European journal of human genetics : EJHG 2014) 3 4 58
- Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development. (PMID: 23236289) Lise S … Németh AH (PLoS genetics 2012) 3 4 58
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Sources for SPTBN2 Gene
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