Seroatlas · Human Serome Atlas

MARVELD2

MARVEL domain-containing protein 2

Also known as: DFNB49, FLJ30532, MALD2_HUMAN, MRVLDC2, TRIC

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

Protein identityUniProt · HPA

UniProt accession: Q8N4S9
Gene: MARVELD2
Ensembl: ENSG00000152939
Chromosome: 5
Canonical length: 558 aa
Protein class: Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
Subcellular location: Cell Junctions

OverviewNCBI Gene

The protein encoded by this gene is a membrane protein found at the tight junctions between epithelial cells. The encoded protein helps establish epithelial barriers such as those in the organ of Corti, where these barriers are required for normal hearing. Defects in this gene are a cause of deafness autosomal recessive type 49 (DFNB49). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

Canonical amino-acid sequenceUniProt

558 residues, UniProt reviewed canonical sequence.

>Q8N4S9|MARVELD2
     1  MSNDGRSRNR DRRYDEVPSD LPYQDTTIRT HPTLHDSERA VSADPLPPPP LPLQPPFGPD
    61  FYSSDTEEPA IAPDLKPVRR FVPDSWKNFF RGKKKDPEWD KPVSDIRYIS DGVECSPPAS
   121  PARPNHRSPL NSCKDPYGGS EGTFSSRKEA DAVFPRDPYG SLDRHTQTVR TYSEKVEEYN
   181  LRYSYMKSWA GLLRILGVVE LLLGAGVFAC VTAYIHKDSE WYNLFGYSQP YGMGGVGGLG
   241  SMYGGYYYTG PKTPFVLVVA GLAWITTIII LVLGMSMYYR TILLDSNWWP LTEFGINVAL
   301  FILYMAAAIV YVNDTNRGGL CYYPLFNTPV NAVFCRVEGG QIAAMIFLFV TMIVYLISAL
   361  VCLKLWRHEA ARRHREYMEQ QEINEPSLSS KRKMCEMATS GDRQRDSEVN FKELRTAKMK
   421  PELLSGHIPP GHIPKPIVMP DYVAKYPVIQ TDDERERYKA VFQDQFSEYK ELSAEVQAVL
   481  RKFDELDAVM SRLPHHSESR QEHERISRIH EEFKKKKNDP TFLEKKERCD YLKNKLSHIK
   541  QRIQEYDKVM NWDVQGYS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MARVELD2 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: 6
Mean surface accessibility (rSASA): 0.5
Highest tissue expression: 15 nTPM

Expression across tissuesHPA

Tissue

thyroid gland: 15 nTPM
liver: 9.7 nTPM
pancreas: 8.3 nTPM
stomach: 7.6 nTPM
kidney: 7.4 nTPM
small intestine: 7.3 nTPM

Single-cell type

distal convoluted tubule cells: 44 nCPM
loop of henle epithelial cells: 43 nCPM
renal collecting duct intercalated cells: 32 nCPM
choroid plexus epithelial cells: 27 nCPM
papillary tip epithelial cells: 26 nCPM
renal connecting tubule cells: 23 nCPM

Immune cell

memory CD4 T-cell: 0.3 nTPM
basophil: 0.1 nTPM
MAIT T-cell: 0.1 nTPM
memory B-cell: 0.1 nTPM
naive B-cell: 0.1 nTPM
neutrophil: 0.1 nTPM

Brain region

choroid plexus: 7.6 nTPM
thalamus: 2.7 nTPM
pons: 2.6 nTPM
medulla oblongata: 2.5 nTPM
midbrain: 2.4 nTPM
white matter: 2.3 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MARVELD2.

Disease | AllUniProt

Conditions MARVELD2 is implicated in, by any mechanism.

Deafness, autosomal recessive, 49 (DFNB49) MIM:610153

Disease | GeneticClinVar

40 pathogenic / likely-pathogenic of 257 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Autosomal recessive nonsyndromic hearing loss 49
Rare genetic deafness
Monogenic hearing loss
Hearing loss, autosomal recessive
Hearing impairment

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): 1.18
gnomAD pLI: 0
gnomAD missense Z: 0.2
DepMap mean gene effect: -0.01
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of MARVELD2 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 MARVELD2 as an antibody target. Whether an autoantibody or antibody against MARVELD2 could matter depends on whether native MARVELD2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MARVELD2 is annotated at the cell surface, where native MARVELD2 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 MARVELD2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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