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Entry version 143 (13 Feb 2019)
Sequence version 2 (11 Jan 2011)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Plays a role in the formation of tricellular tight junctions and of epithelial barriers (By similarity). Required for normal hearing via its role in the separation of the endolymphatic and perilymphatic spaces of the organ of Corti in the inner ear, and for normal survival of hair cells in the organ of Corti (PubMed:17186462).By similarity1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processHearing

Protein family/group databases

Transport Classification Database

More...
TCDBi
9.B.41.2.1 the occludin (occludin) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
MARVEL domain-containing protein 2
Alternative name(s):
Tricellulin1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:MARVELD2
Synonyms:TRIC
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 5

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000152939.14

Human Gene Nomenclature Database

More...
HGNCi
HGNC:26401 MARVELD2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
610572 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8N4S9

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 194CytoplasmicSequence analysisAdd BLAST194
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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

DisGeNET

More...
DisGeNETi
153562

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
MARVELD2

MalaCards human disease database

More...
MalaCardsi
MARVELD2
MIMi610153 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000152939

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134954584

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
MARVELD2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
317373387

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002715261 – 558MARVEL domain-containing protein 2Add BLAST558

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei116PhosphoserineCombined sources1
Modified residuei120PhosphoserineCombined sources1
Modified residuei161PhosphoserineCombined sources1
Modified residuei166PhosphothreonineCombined sources1
Modified residuei387PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Ubiquitinated by ITCH; but this ubiquitination does not lead to proteasomal degradation.1 Publication
Phosphorylated.By similarity

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q8N4S9

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8N4S9

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q8N4S9

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q8N4S9

PeptideAtlas

More...
PeptideAtlasi
Q8N4S9

PRoteomics IDEntifications database

More...
PRIDEi
Q8N4S9

ProteomicsDB human proteome resource

More...
ProteomicsDBi
71965
71966 [Q8N4S9-2]
71967 [Q8N4S9-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8N4S9

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q8N4S9

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000152939 Expressed in 153 organ(s), highest expression level in epithelium of mammary gland

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8N4S9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8N4S9 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA018119
HPA061726

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with TJP1 (PubMed:17186462). Interacts with the ubiquitin ligase ITCH (PubMed:28436082).2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
127502, 18 interactors

Protein interaction database and analysis system

More...
IntActi
Q8N4S9, 6 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000323264

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1558
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5N7HX-ray2.20A439-551[»]
5N7IX-ray2.88A/B439-551[»]
5N7KX-ray2.81A/B/C/D439-551[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q8N4S9

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q8N4S9

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini188 – 367MARVELPROSITE-ProRule annotationAdd BLAST180

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili439 – 5481 PublicationAdd BLAST110

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi45 – 52Poly-Pro8
Compositional biasi514 – 517Poly-Lys4

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG4796 Eukaryota
ENOG410ZNGU LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000155771

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000155323

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG079727

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8N4S9

KEGG Orthology (KO)

More...
KOi
K17291

Identification of Orthologs from Complete Genome Data

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OMAi
FNTPMNA

Database of Orthologous Groups

More...
OrthoDBi
335949at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8N4S9

TreeFam database of animal gene trees

More...
TreeFami
TF326161

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR031176 ELL/occludin
IPR008253 Marvel
IPR031177 MARVELD2
IPR010844 Occludin_ELL

The PANTHER Classification System

More...
PANTHERi
PTHR23288 PTHR23288, 1 hit
PTHR23288:SF3 PTHR23288:SF3, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01284 MARVEL, 1 hit
PF07303 Occludin_ELL, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51225 MARVEL, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A1BQX2A1BQX2_HUMAN
MARVEL domain-containing protein 2
MARVELD2
442Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RA09D6RA09_HUMAN
MARVEL domain-containing protein 2
MARVELD2
516Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0G2JN23A0A0G2JN23_HUMAN
MARVEL domain-containing protein 2
MARVELD2
516Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0G2JQ38A0A0G2JQ38_HUMAN
MARVEL domain-containing protein 2
MARVELD2
442Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RAH8D6RAH8_HUMAN
MARVEL domain-containing protein 2
MARVELD2
145Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0G2JN00A0A0G2JN00_HUMAN
MARVEL domain-containing protein 2
MARVELD2
145Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti356L → P in BAF85651 (PubMed:14702039).Curated1
Sequence conflicti435K → R in BAF85651 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_04743633T → I5 PublicationsCorresponds to variant dbSNP:rs1185246EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

The Consensus CDS (CCDS) project

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CCDSi
CCDS34175.1 [Q8N4S9-1]
CCDS58956.1 [Q8N4S9-3]

NCBI Reference Sequences

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RefSeqi
NP_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]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.657687

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000325631; ENSP00000323264; ENSG00000152939 [Q8N4S9-1]
ENST00000454295; ENSP00000396244; ENSG00000152939 [Q8N4S9-3]
ENST00000614617; ENSP00000480044; ENSG00000274671
ENST00000622835; ENSP00000480068; ENSG00000274671
ENST00000645446; ENSP00000494616; ENSG00000152939 [Q8N4S9-1]
ENST00000646733; ENSP00000496750; ENSG00000152939 [Q8N4S9-1]
ENST00000647531; ENSP00000493858; ENSG00000152939 [Q8N4S9-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
153562

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:153562

UCSC genome browser

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UCSCi
uc003jwq.4 human [Q8N4S9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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

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...

Protein-protein interaction databases

BioGridi127502, 18 interactors
IntActiQ8N4S9, 6 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

EPDiQ8N4S9
jPOSTiQ8N4S9
MaxQBiQ8N4S9
PaxDbiQ8N4S9
PeptideAtlasiQ8N4S9
PRIDEiQ8N4S9
ProteomicsDBi71965
71966 [Q8N4S9-2]
71967 [Q8N4S9-3]

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
ENST00000645446; ENSP00000494616; ENSG00000152939 [Q8N4S9-1]
ENST00000646733; ENSP00000496750; ENSG00000152939 [Q8N4S9-1]
ENST00000647531; ENSP00000493858; ENSG00000152939 [Q8N4S9-3]
GeneIDi153562
KEGGihsa:153562
UCSCiuc003jwq.4 human [Q8N4S9-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
153562
DisGeNETi153562
EuPathDBiHostDB:ENSG00000152939.14

GeneCards: human genes, protein and diseases

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GeneCardsi
MARVELD2
GeneReviewsiMARVELD2

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0004923
HGNCiHGNC:26401 MARVELD2
HPAiHPA018119
HPA061726
MalaCardsiMARVELD2
MIMi610153 phenotype
610572 gene
neXtProtiNX_Q8N4S9
OpenTargetsiENSG00000152939
Orphaneti90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB
PharmGKBiPA134954584

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4796 Eukaryota
ENOG410ZNGU LUCA
GeneTreeiENSGT00940000155771
HOGENOMiHOG000155323
HOVERGENiHBG079727
InParanoidiQ8N4S9
KOiK17291
OMAiFNTPMNA
OrthoDBi335949at2759
PhylomeDBiQ8N4S9
TreeFamiTF326161

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
MARVELD2 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
MARVELD2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
153562

Protein Ontology

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PROi
PR:Q8N4S9

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000152939 Expressed in 153 organ(s), highest expression level in epithelium of mammary gland
ExpressionAtlasiQ8N4S9 baseline and differential
GenevisibleiQ8N4S9 HS

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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMALD2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8N4S9
Secondary accession number(s): A1BQX0
, A1BQX1, A8KA97, Q96NM9
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 9, 2007
Last sequence update: January 11, 2011
Last modified: February 13, 2019
This is version 143 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

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