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Protein

MARVEL domain-containing protein 2

Gene

MARVELD2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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
Complete GO annotation...

Keywords - Biological processi

Hearing

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

HGNCiHGNC:26401. MARVELD2.

Subcellular locationi

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

GO - Cellular componenti

  • apical plasma membrane Source: UniProtKB
  • basolateral plasma membrane Source: UniProtKB
  • bicellular tight junction Source: UniProtKB
  • cytoplasm Source: UniProtKB
  • cytoplasmic vesicle Source: UniProtKB
  • integral component of membrane Source: UniProtKB-KW
  • paranodal junction Source: Ensembl
  • Schmidt-Lanterman incisure Source: Ensembl
  • tricellular tight junction Source: InterPro
Complete GO annotation...

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.
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.

Interactioni

Protein-protein interaction databases

BioGridi127502. 14 interactors.
IntActiQ8N4S9. 4 interactors.
STRINGi9606.ENSP00000323264.

Structurei

3D structure databases

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

Sequence similaritiesi

Contains 1 MARVEL domain.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

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

Family and domain databases

InterProiIPR031176. ELL/occludin.
IPR008253. Marvel.
IPR031177. MARVELD2.
IPR010844. Occludin_ELL.
[Graphical view]
PANTHERiPTHR23288. PTHR23288. 1 hit.
PTHR23288:SF3. PTHR23288:SF3. 1 hit.
PfamiPF01284. MARVEL. 1 hit.
PF07303. Occludin_ELL. 1 hit.
[Graphical view]
PROSITEiPS51225. MARVEL. 1 hit.
[Graphical view]

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 → I.5 PublicationsCorresponds to variant rs1185246dbSNPEnsembl.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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ8N4S9.
SMRiQ8N4S9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127502. 14 interactors.
IntActiQ8N4S9. 4 interactors.
STRINGi9606.ENSP00000323264.

Protein family/group databases

TCDBi9.B.41.2.1. the occludin (occludin) family.

PTM databases

iPTMnetiQ8N4S9.
PhosphoSitePlusiQ8N4S9.

Polymorphism and mutation databases

BioMutaiMARVELD2.
DMDMi317373387.

Proteomic databases

MaxQBiQ8N4S9.
PaxDbiQ8N4S9.
PeptideAtlasiQ8N4S9.
PRIDEiQ8N4S9.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi153562.
DisGeNETi153562.
GeneCardsiMARVELD2.
GeneReviewsiMARVELD2.
H-InvDBHIX0004923.
HGNCiHGNC:26401. MARVELD2.
HPAiHPA018119.
MalaCardsiMARVELD2.
MIMi610153. phenotype.
610572. gene.
neXtProtiNX_Q8N4S9.
OpenTargetsiENSG00000152939.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
PharmGKBiPA134954584.
GenAtlasiSearch...

Phylogenomic databases

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

Miscellaneous databases

ChiTaRSiMARVELD2. human.
GeneWikiiMARVELD2.
GenomeRNAii153562.
PROiQ8N4S9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000152939.
CleanExiHS_MARVELD2.
ExpressionAtlasiQ8N4S9. baseline and differential.
GenevisibleiQ8N4S9. HS.

Family and domain databases

InterProiIPR031176. ELL/occludin.
IPR008253. Marvel.
IPR031177. MARVELD2.
IPR010844. Occludin_ELL.
[Graphical view]
PANTHERiPTHR23288. PTHR23288. 1 hit.
PTHR23288:SF3. PTHR23288:SF3. 1 hit.
PfamiPF01284. MARVEL. 1 hit.
PF07303. Occludin_ELL. 1 hit.
[Graphical view]
PROSITEiPS51225. MARVEL. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMALD2_HUMAN
AccessioniPrimary (citable) accession number: Q8N4S9
Secondary accession number(s): A1BQX0
, A1BQX1, A8KA97, Q96NM9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 9, 2007
Last sequence update: January 11, 2011
Last modified: November 30, 2016
This is version 123 of the entry and version 2 of the sequence. [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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.