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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 regul... See more...
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
- GC11M066702
- 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 Signaling by GPCR. 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 Summary for SPTBN2 Gene
-
Probably plays an important role in neuronal membrane skeleton.
Additional gene information for SPTBN2 Gene
- HGNC(11276)
- Entrez Gene(6712)
- Ensembl(ENSG00000173898)
- OMIM(604985)
- UniProtKB(O15020)
- Open Targets Platform(ENSG00000173898)
- Monarch Initiative
- Search for SPTBN2 at DataMed
- Search for SPTBN2 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SPTBN2 Gene
Genomics for SPTBN2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for SPTBN2 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 SPTBN2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SPTBN2
- Top Transcription factor binding sites by QIAGEN in the SPTBN2 gene promoter:
-
- AML1a
- AP-4
- Arnt
- C/EBPbeta
- GR
- LCR-F1
- Nkx2-2
- Roaz
- Sox9
- Spz1
Genomic Locations for SPTBN2 Gene
Genomic Locations for SPTBN2 Gene
- chr11:66,682,496-66,729,361
- (GRCh38/hg38)
- Size:
- 46,866 bases
- Orientation:
- Minus strand
- chr11:66,452,719-66,496,697
- (GRCh37/hg19)
- Size:
- 43,979 bases
- Orientation:
- Minus strand
Genomic View for SPTBN2 Gene
Genes around SPTBN2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11q13.2 by HGNC
- 11q13.2 by Entrez Gene
- 11q13.2 by Ensembl
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=Extended N-terminus.; 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
- NSJ Bioreagents SPTBN2 Antibody / Spectrin beta III (Mouse Monoclonal)
- Novus Biologicals Antibodies for SPTBN2
- Invitrogen Antibodies for SPTBN2 (AFLGC-Sptbn2)
- antibodies-online: Show 7 available SPTBN2 Antibodies ranked by validation data
- Compare Top SPTBN2 Antibodies
-
Recommended
- 54 WB Antibodies (anti-mouse)
- 9 FACS Antibodies (anti-mouse)
- 9 IHC (p) Antibodies (anti-mouse)
- 2 IHC Antibodies (anti-mouse)
- 150 WB Antibodies (anti-human)
- 21 IHC (p) Antibodies (anti-human)
- 17 FACS Antibodies (anti-human)
- 8 IP Antibodies (anti-human)
- 6 IHC Antibodies (anti-human)
- 36 WB Antibodies (anti-rat)
- 6 FACS Antibodies (anti-rat)
- 6 IHC (p) Antibodies (anti-rat)
- 1 IHC Antibody (anti-rat)
-
Boster Bio 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
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:
-
- Pleckstrin-like
- Actin-binding, actinin-type
- Calponin-like actin-binding
- Spectrin repeat
- Spectrin pleckstrin homology domain signature
- ProtoNet:
Suggested Antigen Peptide Sequences for SPTBN2 Gene
- GenScript: Design optimal peptide antigens:
-
- SPTBN2 protein (C1KC08_HUMAN)
- Spectrin beta III sigma 2 (Q45KQ1_HUMAN)
- Spectrin, non-erythroid beta chain 2 (SPTN2_HUMAN)
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:0005200 | structural constituent of cytoskeleton | TAS | 9826670 |
| GO:0005515 | protein binding | IEA | -- |
| GO:0005543 | phospholipid binding | IEA | -- |
| GO:0045296 | cadherin binding | HDA | 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 Sptbn2<tm1b(EUCOMM)Hmgu>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SPTBN2 - Select products 50% OFF >
- * SPTBN2 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 SPTBN2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SPTBN2
-
Santa Cruz Biotechnology (SCBT) CRISPR for SPTBN2
miRNA for SPTBN2 Gene
- miRTarBase miRNAs that target SPTBN2
-
- mmu-miR-7b-5p (MIRT009230)
- mmu-miR-15a-5p (MIRT011774)
- mmu-let-7b-5p (MIRT012151)
- mmu-miR-34b-5p (MIRT012797)
- mmu-miR-24-3p (MIRT013835)
- mmu-miR-149-5p (MIRT014595)
- 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
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SPTBN2
- Browse OriGene Inhibitory RNA Products For SPTBN2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPTBN2
Clone Products
- Applied Biological Materials (abm): Clones for SPTBN2 - Select products 50% OFF >
- * SPTBN2 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 SPTBN2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SPTBN2
Cell Line Products
-
Horizon Cell Lines for SPTBN2
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 |
|---|---|
| cytoskeleton | 5 |
| cytosol | 5 |
| extracellular | 4 |
| plasma membrane | 3 |
| nucleus | 2 |
| golgi apparatus | 2 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
- Cell Junctions (3)
- Cytosol (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005615 | extracellular space | HDA | 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 |
Sertoli-Sertoli Cell Junction Dynamics
.38
|
Epithelial Tight Junctions
.36
|
| 4 | Developmental Biology |
.51
|
|
| 5 | Cytokine Signaling in Immune system | ||
Pathways by source for SPTBN2 Gene
58 Reactome pathways for SPTBN2 Gene
1 KEGG pathway for SPTBN2 Gene
2 Qiagen pathways for SPTBN2 Gene
- Epithelial Tight Junctions
- Sertoli-Sertoli Cell Junction Dynamics
Interacting Proteins for SPTBN2 Gene
GPS-Prot Interaction Network for SPTBN2
| 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
- 1 REFSEQ mRNAs :
- 9 NCBI additional mRNA sequence :
- 13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000309996 7866 nts (view in UCSC)
- ENST00000527010 859 nts (view in UCSC)
- ENST00000528051 573 nts (view in UCSC)
- ENST00000529997 8085 nts (view in UCSC)
- ENST00000530665 462 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SPTBN2 - Select products 50% OFF >
- * SPTBN2 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 SPTBN2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SPTBN2
-
Santa Cruz Biotechnology (SCBT) CRISPR for SPTBN2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SPTBN2
- Browse OriGene Inhibitory RNA Products For SPTBN2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPTBN2
Clone Products
- Applied Biological Materials (abm): Clones for SPTBN2 - Select products 50% OFF >
- * SPTBN2 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 SPTBN2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SPTBN2
| 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: |
Relevant External Links for SPTBN2 Gene
- GeneLoc Exon Structure for
- SPTBN2
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
-
Placenta (Extraembryonic Tissues)
- Primordial Germ Cells Allantois
- Germ Cells (Reproductive System)
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, MaxQB, and MOPED for SPTBN2 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SPTBN2
SOURCE 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)
- Kidney(4)
- Adrenal gland(4)
- Blood(4)
- Lung(3.8)
- Pancreas(3.4)
- Gall bladder(3.3)
- Eye(3.2)
- Intestine(2.9)
- Skin(2.7)
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
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 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | SPTBN2 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | SPTBN2 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | SPTBN2 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Sptbn2 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Sptbn2 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | SPTBN2 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | SPTBN2 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | SPTBN2 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100486199 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | LOC558044 30 |
|
||
| sptbn2 31 |
|
OneToOne | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | &bgr;-Spec 32 |
|
|
|
| beta-Spec 31 |
|
OneToMany | |||
| Worm (Caenorhabditis elegans) |
Secernentea | unc-70 31 32 |
|
OneToMany | |
| M116.5 32 |
|
|
|||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
- Species where no ortholog for SPTBN2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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 SPTBN2 Gene
- ENSEMBL:
- Gene Tree for SPTBN2 (if available)
- TreeFam:
- Gene Tree for SPTBN2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for SPTBN2: view image
Paralogs for SPTBN2 Gene
Paralogs for SPTBN2 Gene
(18) SIMAP similar genes for SPTBN2 Gene using alignment to 5 proteins:
- SPTN2_HUMAN
- A4QPE4_HUMAN
- C1KC08_HUMAN
- E9PJZ2_HUMAN
- Q45KQ1_HUMAN
Variants for SPTBN2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SPTBN2 Gene
| SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 638445 | Uncertain Significance: Spinocerebellar ataxia type 5 | 66,687,151(-) | A/G | MISSENSE_VARIANT | |
| 708496 | Benign: not provided | 66,704,645(-) | C/G | SYNONYMOUS_VARIANT | |
| 709253 | Likely Benign: not provided | 66,693,034(-) | C/T | MISSENSE_VARIANT | |
| 711065 | Benign: not provided | 66,704,773(-) | C/T | MISSENSE_VARIANT | |
| 714047 | Likely Benign: not provided | 66,691,536(-) | G/A | SYNONYMOUS_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
(34) MalaCards diseases for SPTBN2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| spinocerebellar ataxia 5 |
|
|
| spinocerebellar ataxia, autosomal recessive 14 |
|
|
| cerebellar ataxia type 9 |
|
|
| epidemic typhus |
|
|
| autosomal recessive cerebellar ataxia |
|
|
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]: A form of spinocerebellar ataxia, 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)
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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 23
- 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 23
- Screening of the SPTBN2 (SCA5) gene in German SCA patients. (PMID: 17940722) Zühlke C … Bürk K (Journal of neurology 2007) 3 23 41
- 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
- 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
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