SPTBN4

Spectrin, beta, non-erythrocytic 4, also known as SPTBN4, is a protein that in humans is encoded by the SPTBN4 gene.^[5][6]

AliasesSPTBN4, QV, SPNB4, SPTBN3, spectrin beta, non-erythrocytic 4, CMND, NEDHND

External IDsOMIM: 606214; MGI: 1890574; HomoloGene: 11879; GeneCards: SPTBN4; OMA:SPTBN4 - orthologs

Chr.Chromosome 19 (human)^[1]

End40,576,464 bp^[1]

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SPTBN4
Identifiers
Aliases	SPTBN4, QV, SPNB4, SPTBN3, spectrin beta, non-erythrocytic 4, CMND, NEDHND
External IDs	OMIM: 606214; MGI: 1890574; HomoloGene: 11879; GeneCards: SPTBN4; OMA:SPTBN4 - orthologs
Gene location (Human) Chr. Chromosome 19 (human)[1] Band 19q13.2 Start 40,466,241 bp[1] End 40,576,464 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7 A3|7 15.88 cM Start 27,055,808 bp[2] End 27,147,111 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right hemisphere of cerebellum right frontal lobe Brodmann area 9 anterior cingulate cortex prefrontal cortex nucleus accumbens caudate nucleus putamen amygdala pituitary gland Top expressed in superior frontal gyrus primary visual cortex cerebellar cortex nucleus of stria terminalis central gray substance of midbrain dentate gyrus of hippocampal formation granule cell subiculum piriform cortex nucleus accumbens cerebellar vermis More reference expression data BioGPS More reference expression data
Gene ontology Molecular function phosphatase binding spectrin binding structural constituent of cytoskeleton protein binding ankyrin binding actin binding phospholipid binding Cellular component cytoplasm cytosol PML body spectrin membrane cell body fiber nuclear matrix adherens junction plasma membrane node of Ranvier axon soma cell cortex axon hillock axon initial segment paranode region of axon extracellular exosome cytoskeleton intercalated disc Biological process clustering of voltage-gated sodium channels axonogenesis regulation of sodium ion transport transmission of nerve impulse hearing negative regulation of heart rate MAPK cascade axon guidance endoplasmic reticulum to Golgi vesicle-mediated transport reproductive process adult behavior cardiac conduction regulation of peptidyl-serine phosphorylation actin filament capping positive regulation of multicellular organism growth fertilization central nervous system projection neuron axonogenesis vesicle-mediated transport adult walking behavior protein localization to plasma membrane regulation of molecular function cytoskeleton organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 57731 80297 Ensembl ENSG00000160460 ENSMUSG00000011751 UniProt Q9H254 n/a RefSeq (mRNA) NM_020971 NM_025213 NM_001199234 NM_001199235 NM_001199236 NM_032610 RefSeq (protein) NP_066022 NP_079489 n/a Location (UCSC) Chr 19: 40.47 – 40.58 Mb Chr 7: 27.06 – 27.15 Mb PubMed search [3] [4]
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Spectrin is an actin crosslinking and molecular scaffold protein that links the cell 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 mice 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.^[5]