Dystrobrevin beta

This article is about the DTNB gene and protein. For the chemical substance, see Ellman's reagent.

Dystrobrevin beta is a protein which in humans is encoded by the DTNB gene.^[5]

DTNB
Identifiers
Aliases	DTNB, dystrobrevin beta
External IDs	OMIM: 602415; MGI: 1203728; HomoloGene: 74875; GeneCards: DTNB; OMA:DTNB - orthologs
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2p23.3 Start 25,377,198 bp[1] End 25,673,647 bp[1]
Gene location (Mouse) Chr. Chromosome 12 (mouse)[2] Band 12 A1.1|12 1.88 cM Start 3,622,381 bp[2] End 3,831,796 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in C1 segment right frontal lobe prefrontal cortex cingulate gyrus anterior cingulate cortex Brodmann area 9 amygdala Brodmann area 10 nucleus accumbens salivary gland Top expressed in superior frontal gyrus Rostral migratory stream dentate gyrus of hippocampal formation granule cell neural layer of retina right kidney genital tubercle primary visual cortex lacrimal gland granulocyte seminiferous tubule More reference expression data BioGPS n/a
Orthologs Species Human Mouse Entrez 1838 13528 Ensembl ENSG00000138101 ENSMUSG00000071454 UniProt O60941 O70585 RefSeq (mRNA) NM_001256303 NM_001256304 NM_001256308 NM_021907 NM_033147 NM_033148 NM_183360 NM_183361 NM_001320932 NM_001320933 NM_001320934 NM_001320935 NM_001320936 NM_001320937 NM_001351381 NM_001351382 NM_001351383 NM_001351384 NM_001351385 NM_001351386 NM_001351387 NM_001351388 NM_001351389 NM_001351390 NM_001351391 NM_001351392 NM_001351393 NM_001351394 NM_001351395 NM_001394686 NM_001162465 NM_007886 NM_001355528 NM_001374710 RefSeq (protein) NP_001243232 NP_001243233 NP_001243237 NP_001307861 NP_001307862 NP_001307863 NP_001307864 NP_001307865 NP_001307866 NP_068707 NP_149159 NP_149160 NP_899204 NP_899205 NP_001338310 NP_001338311 NP_001338312 NP_001338313 NP_001338314 NP_001338315 NP_001338316 NP_001338317 NP_001338318 NP_001338319 NP_001338320 NP_001338321 NP_001338322 NP_001338323 NP_001338324 NP_001155937 NP_031912 NP_001342457 NP_001361639 Location (UCSC) Chr 2: 25.38 – 25.67 Mb Chr 12: 3.62 – 3.83 Mb PubMed search [3] [4]
Wikidata
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Function

This gene encodes dystrobrevin beta, a component of the dystrophin-associated protein complex (DPC). The DPC consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and dystrobrevin alpha and beta. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. Dystrobrevin beta is thought to interact with syntrophin and the DP71 short form of dystrophin. Alternatively spliced transcript variants encoding different isoforms have been identified.^[6]