Seroatlas · Human Serome Atlas

DTNA

Dystrobrevin alpha

Also known as: D18S892E, DRP3, DTN, DTN-1, DTN-2, DTN-3, DTNA_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9Y4J8
Gene: DTNA
Ensembl: ENSG00000134769
Chromosome: 18
Canonical length: 743 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
Subcellular location: Nucleoplasm,Cell Junctions,Intermediate filaments

OverviewNCBI Gene

The protein encoded by this gene belongs to the dystrobrevin subfamily of the dystrophin family. This protein is a component of the dystrophin-associated protein complex (DPC), which consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and alpha- and beta-dystrobrevin. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. Mutations in this gene are associated with left ventricular noncompaction with congenital heart defects. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

743 residues, UniProt reviewed canonical sequence.

>Q9Y4J8|DTNA
     1  MIEDSGKRGN TMAERRQLFA EMRAQDLDRI RLSTYRTACK LRFVQKKCNL HLVDIWNVIE
    61  ALRENALNNL DPNTELNVSR LEAVLSTIFY QLNKRMPTTH QIHVEQSISL LLNFLLAAFD
   121  PEGHGKISVF AVKMALATLC GGKIMDKLRY IFSMISDSSG VMVYGRYDQF LREVLKLPTA
   181  VFEGPSFGYT EQSARSCFSQ QKKVTLNGFL DTLMSDPPPQ CLVWLPLLHR LANVENVFHP
   241  VECSYCHSES MMGFRYRCQQ CHNYQLCQDC FWRGHAGGSH SNQHQMKEYT SWKSPAKKLT
   301  NALSKSLSCA SSREPLHPMF PDQPEKPLNL AHIVDTWPPR PVTSMNDTLF SHSVPSSGSP
   361  FITRSSPPKD SEVEQNKLLA RAAPAFLKGK GIQYSLNVAD RLADEHVLIG LYVNMLRNNP
   421  SCMLESSNRL DEEHRLIARY AARLAAESSS SQPPQQRSAP DISFTIDANK QQRQLIAELE
   481  NKNREILQEI QRLRLEHEQA SQPTPEKAQQ NPTLLAELRL LRQRKDELEQ RMSALQESRR
   541  ELMVQLEGLM KLLKTQGAGS PRSSPSHTIS RPIPMPIRSA SACSTPTHTP QDSLTGVGGD
   601  VQEAFAQSSR RNLRNDLLVA ADSITNTMSS LVKELNSEVG SETESNVDSE FARTQFEDLV
   661  PSPTSEKAFL AQIHARKPGY IHSGATTSTM RGDMVTEDAD PYVQPEDENY ENDSVRQLEN
   721  ELQMEEYLKQ KLQDEAYQVS LQG

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DTNA can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Cell surface
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.47
Highest tissue expression: 204 nTPM

Expression across tissuesHPA

Tissue

spinal cord: 204 nTPM
tongue: 198 nTPM
amygdala: 193 nTPM
midbrain: 189 nTPM
hypothalamus: 174 nTPM
basal ganglia: 173 nTPM

Single-cell type

bergmann glia: 5,155 nCPM
astrocytes: 3,052 nCPM
myonuclei: 1,700 nCPM
ependymal cells: 1,605 nCPM
pancreatic acinar cells: 1,233 nCPM
cardiomyocytes: 993 nCPM

Immune cell

T-reg: 4.4 nTPM
myeloid DC: 3.4 nTPM
naive CD4 T-cell: 1.8 nTPM
memory CD4 T-cell: 1.6 nTPM
naive CD8 T-cell: 1.3 nTPM
MAIT T-cell: 1.2 nTPM

Brain region

medulla oblongata: 786 nTPM
hypothalamus: 723 nTPM
midbrain: 529 nTPM
white matter: 529 nTPM
spinal cord: 498 nTPM
pons: 464 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DTNA.

Disease | AllUniProt

Conditions DTNA is implicated in, by any mechanism.

Left ventricular non-compaction 1 (LVNC1) MIM:604169
Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 (MMCKR2) MIM:620971

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 757 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2

Disease | ImmuneIEDB

Conditions an epitope on DTNA was assayed in.

brain glioma T cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.37
gnomAD pLI: 0.63
gnomAD missense Z: 1.42
DepMap mean gene effect: 0.04
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of DTNA in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads DTNA as an antibody target. Whether an autoantibody or antibody against DTNA could matter depends on whether native DTNA is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DTNA is annotated at the cell surface, where native DTNA is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label DTNA as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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