Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

MARVEL domain-containing protein 2

Gene

MARVELD2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Plays a role in the formation of the epithelial barriers. The separation of the endolymphatic and perilymphatic spaces of the organ of Corti from one another by epithelial barriers is required for normal hearing.1 Publication

GO - Biological processi

  • bicellular tight junction assembly Source: UniProtKB
  • cell-cell junction organization Source: MGI
  • establishment of endothelial barrier Source: UniProtKB
  • sensory perception of sound Source: MGI

Keywordsi

Biological processHearing

Protein family/group databases

TCDBi9.B.41.2.1 the occludin (occludin) family

Names & Taxonomyi

Protein namesi
Recommended name:
MARVEL domain-containing protein 2
Alternative name(s):
Tricellulin
Gene namesi
Name:MARVELD2
Synonyms:TRIC
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000152939.14
HGNCiHGNC:26401 MARVELD2
MIMi610572 gene
neXtProtiNX_Q8N4S9

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 194CytoplasmicSequence analysisAdd BLAST194
Transmembranei195 – 215HelicalSequence analysisAdd BLAST21
Topological domaini216 – 223ExtracellularSequence analysis8
Transmembranei224 – 244HelicalSequence analysisAdd BLAST21
Topological domaini245 – 254CytoplasmicSequence analysis10
Transmembranei255 – 275HelicalSequence analysisAdd BLAST21
Topological domaini276 – 291ExtracellularSequence analysisAdd BLAST16
Transmembranei292 – 312HelicalSequence analysisAdd BLAST21
Topological domaini313 – 319CytoplasmicSequence analysis7
Transmembranei320 – 337HelicalSequence analysisAdd BLAST18
Topological domaini338 – 341ExtracellularSequence analysis4
Transmembranei342 – 362HelicalSequence analysisAdd BLAST21
Topological domaini363 – 558CytoplasmicSequence analysisAdd BLAST196

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane, Tight junction

Pathology & Biotechi

Involvement in diseasei

Deafness, autosomal recessive, 49 (DFNB49)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
See also OMIM:610153

Keywords - Diseasei

Deafness, Non-syndromic deafness

Organism-specific databases

DisGeNETi153562
GeneReviewsiMARVELD2
MalaCardsiMARVELD2
MIMi610153 phenotype
OpenTargetsiENSG00000152939
Orphaneti90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB
PharmGKBiPA134954584

Polymorphism and mutation databases

BioMutaiMARVELD2
DMDMi317373387

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002715261 – 558MARVEL domain-containing protein 2Add BLAST558

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei116PhosphoserineCombined sources1
Modified residuei120PhosphoserineCombined sources1
Modified residuei161PhosphoserineCombined sources1
Modified residuei166PhosphothreonineCombined sources1
Modified residuei387PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ8N4S9
PaxDbiQ8N4S9
PeptideAtlasiQ8N4S9
PRIDEiQ8N4S9

PTM databases

iPTMnetiQ8N4S9
PhosphoSitePlusiQ8N4S9

Expressioni

Gene expression databases

BgeeiENSG00000152939
CleanExiHS_MARVELD2
ExpressionAtlasiQ8N4S9 baseline and differential
GenevisibleiQ8N4S9 HS

Organism-specific databases

HPAiHPA018119
HPA061726

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
PLGP007472EBI-6875061,EBI-999394

Protein-protein interaction databases

BioGridi12750218 interactors.
IntActiQ8N4S9 6 interactors.
STRINGi9606.ENSP00000323264

Structurei

Secondary structure

1558
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi442 – 445Combined sources4
Helixi452 – 487Combined sources36
Helixi489 – 492Combined sources4
Helixi493 – 495Combined sources3
Helixi500 – 517Combined sources18
Helixi520 – 549Combined sources30

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5N7HX-ray2.20A439-551[»]
5N7IX-ray2.88A/B439-551[»]
5N7KX-ray2.81A/B/C/D439-551[»]
ProteinModelPortaliQ8N4S9
SMRiQ8N4S9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini188 – 367MARVELPROSITE-ProRule annotationAdd BLAST180

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili466 – 490Sequence analysisAdd BLAST25
Coiled coili524 – 548Sequence analysisAdd BLAST25

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi45 – 52Poly-Pro8
Compositional biasi514 – 517Poly-Lys4

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4796 Eukaryota
ENOG410ZNGU LUCA
GeneTreeiENSGT00550000074378
HOGENOMiHOG000155323
HOVERGENiHBG079727
InParanoidiQ8N4S9
KOiK17291
OMAiVNFKELR
OrthoDBiEOG091G04ZP
PhylomeDBiQ8N4S9
TreeFamiTF326161

Family and domain databases

InterProiView protein in InterPro
IPR031176 ELL/occludin
IPR008253 Marvel
IPR031177 MARVELD2
IPR010844 Occludin_ELL
PANTHERiPTHR23288 PTHR23288, 1 hit
PTHR23288:SF3 PTHR23288:SF3, 1 hit
PfamiView protein in Pfam
PF01284 MARVEL, 1 hit
PF07303 Occludin_ELL, 1 hit
PROSITEiView protein in PROSITE
PS51225 MARVEL, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8N4S9-1) [UniParc]FASTAAdd to basket
Also known as: A, TRIC

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSNDGRSRNR DRRYDEVPSD LPYQDTTIRT HPTLHDSERA VSADPLPPPP
60 70 80 90 100
LPLQPPFGPD FYSSDTEEPA IAPDLKPVRR FVPDSWKNFF RGKKKDPEWD
110 120 130 140 150
KPVSDIRYIS DGVECSPPAS PARPNHRSPL NSCKDPYGGS EGTFSSRKEA
160 170 180 190 200
DAVFPRDPYG SLDRHTQTVR TYSEKVEEYN LRYSYMKSWA GLLRILGVVE
210 220 230 240 250
LLLGAGVFAC VTAYIHKDSE WYNLFGYSQP YGMGGVGGLG SMYGGYYYTG
260 270 280 290 300
PKTPFVLVVA GLAWITTIII LVLGMSMYYR TILLDSNWWP LTEFGINVAL
310 320 330 340 350
FILYMAAAIV YVNDTNRGGL CYYPLFNTPV NAVFCRVEGG QIAAMIFLFV
360 370 380 390 400
TMIVYLISAL VCLKLWRHEA ARRHREYMEQ QEINEPSLSS KRKMCEMATS
410 420 430 440 450
GDRQRDSEVN FKELRTAKMK PELLSGHIPP GHIPKPIVMP DYVAKYPVIQ
460 470 480 490 500
TDDERERYKA VFQDQFSEYK ELSAEVQAVL RKFDELDAVM SRLPHHSESR
510 520 530 540 550
QEHERISRIH EEFKKKKNDP TFLEKKERCD YLKNKLSHIK QRIQEYDKVM

NWDVQGYS
Length:558
Mass (Da):64,168
Last modified:January 11, 2011 - v2
Checksum:i04F3FCB2CFDB162B
GO
Isoform 2 (identifier: Q8N4S9-2) [UniParc]FASTAAdd to basket
Also known as: TRICbeta

The sequence of this isoform differs from the canonical sequence as follows:
     431-457: GHIPKPIVMPDYVAKYPVIQTDDERER → RPANFFVFLVEMGFHRVSQDDLDLLTS
     458-558: Missing.

Show »
Length:457
Mass (Da):51,839
Checksum:iAC283BB19827AFFE
GO
Isoform 3 (identifier: Q8N4S9-3) [UniParc]FASTAAdd to basket
Also known as: A1

The sequence of this isoform differs from the canonical sequence as follows:
     383-394: Missing.

Show »
Length:546
Mass (Da):62,796
Checksum:iF0BE767148439FCA
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti356L → P in BAF85651 (PubMed:14702039).Curated1
Sequence conflicti435K → R in BAF85651 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04743633T → I5 PublicationsCorresponds to variant dbSNP:rs1185246Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_035760383 – 394Missing in isoform 3. 1 PublicationAdd BLAST12
Alternative sequenceiVSP_022320431 – 457GHIPK…DERER → RPANFFVFLVEMGFHRVSQD DLDLLTS in isoform 2. 2 PublicationsAdd BLAST27
Alternative sequenceiVSP_022321458 – 558Missing in isoform 2. 2 PublicationsAdd BLAST101

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB219936 mRNA Translation: BAE54513.1
AB219937 mRNA Translation: BAE54514.1
DQ682656 mRNA Translation: ABG89104.1
DQ682657 mRNA Translation: ABG89105.1
AK055094 mRNA Translation: BAB70853.1
AK292962 mRNA Translation: BAF85651.1
AC145146 Genomic DNA No translation available.
CH471137 Genomic DNA Translation: EAW51277.1
BC033689 mRNA Translation: AAH33689.1
CCDSiCCDS34175.1 [Q8N4S9-1]
CCDS58956.1 [Q8N4S9-3]
RefSeqiNP_001033692.2, NM_001038603.2 [Q8N4S9-1]
NP_001231663.1, NM_001244734.1 [Q8N4S9-3]
XP_005248502.1, XM_005248445.4 [Q8N4S9-1]
XP_005248503.1, XM_005248446.4 [Q8N4S9-1]
XP_005248504.1, XM_005248447.4 [Q8N4S9-3]
UniGeneiHs.657687

Genome annotation databases

EnsembliENST00000325631; ENSP00000323264; ENSG00000152939 [Q8N4S9-1]
ENST00000454295; ENSP00000396244; ENSG00000152939 [Q8N4S9-3]
ENST00000614617; ENSP00000480044; ENSG00000274671
ENST00000622835; ENSP00000480068; ENSG00000274671
GeneIDi153562
KEGGihsa:153562
UCSCiuc003jwq.4 human [Q8N4S9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiMALD2_HUMAN
AccessioniPrimary (citable) accession number: Q8N4S9
Secondary accession number(s): A1BQX0
, A1BQX1, A8KA97, Q96NM9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 9, 2007
Last sequence update: January 11, 2011
Last modified: April 25, 2018
This is version 135 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome