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Entry version 167 (02 Jun 2021)
Sequence version 2 (24 May 2004)
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Protein

Claudin-19

Gene

CLDN19

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 major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity.

By similarity

<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 - Molecular functioni

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 processSensory transduction, Vision
LigandMagnesium

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q8N6F1

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-420029, Tight junction interactions

Protein family/group databases

Transport Classification Database

More...
TCDBi
1.H.1.1.5, the claudin tight junction (claudin1) 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%5Fand%5Ftaxonomy%5Fsection">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:
Claudin-19
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:CLDN19
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 1

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:2040, CLDN19

Online Mendelian Inheritance in Man (OMIM)

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MIMi
610036, gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q8N6F1

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000164007.10

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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 – 7CytoplasmicSequence analysis7
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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>Transmembranei8 – 28HelicalSequence analysisAdd BLAST21
Topological domaini29 – 81ExtracellularSequence analysisAdd BLAST53
Transmembranei82 – 102HelicalSequence analysisAdd BLAST21
Topological domaini103 – 117CytoplasmicSequence analysisAdd BLAST15
Transmembranei118 – 138HelicalSequence analysisAdd BLAST21
Topological domaini139 – 160ExtracellularSequence analysisAdd BLAST22
Transmembranei161 – 181HelicalSequence analysisAdd BLAST21
Topological domaini182 – 224CytoplasmicSequence analysisAdd BLAST43

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

Hypomagnesemia 5, renal, with or without ocular involvement (HOMG5)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA progressive renal disease characterized by primary renal magnesium wasting with hypomagnesemia, hypercalciuria and nephrocalcinosis associated with severe ocular abnormalities such as bilateral chorioretinal scars, macular colobomata, significant myopia and nystagmus. The renal phenotype is virtually undistinguishable from that of patients with HOMG3.
Related information in OMIM
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_03123920G → D in HOMG5; perinuclear retention of the mutant protein. 1 PublicationCorresponds to variant dbSNP:rs118203979EnsemblClinVar.1
Natural variantiVAR_03124057Q → E in HOMG5; the mutant protein inserts correctly into the cell membrane although subsequent analyzes suggested that dimer formation was disrupted. 1 PublicationCorresponds to variant dbSNP:rs118203980EnsemblClinVar.1
Natural variantiVAR_03124190L → P in HOMG5. 1 PublicationCorresponds to variant dbSNP:rs118203981EnsemblClinVar.1

Keywords - Diseasei

Disease variant, Primary hypomagnesemia

Organism-specific databases

DisGeNET

More...
DisGeNETi
149461

MalaCards human disease database

More...
MalaCardsi
CLDN19
MIMi248190, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000164007

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

More...
Orphaneti
2196, Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA26566

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8N6F1, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CLDN19

Domain mapping of disease mutations (DMDM)

More...
DMDMi
47606757

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001447811 – 224Claudin-19Add BLAST224

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi54 ↔ 64By similarity

Keywords - PTMi

Disulfide bond

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q8N6F1

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

More...
PaxDbi
Q8N6F1

PeptideAtlas

More...
PeptideAtlasi
Q8N6F1

PRoteomics IDEntifications database

More...
PRIDEi
Q8N6F1

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
26945
72162 [Q8N6F1-1]
72163 [Q8N6F1-2]

PTM databases

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

More...
PhosphoSitePlusi
Q8N6F1

<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
ENSG00000164007, Expressed in trigeminal ganglion and 166 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8N6F1, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000164007, Group enriched (brain, kidney, placenta, retina)

<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%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Isoform 2 [Q8N6F1-2]
With#Exp.IntAct
AQP6 [Q13520]3EBI-12256978,EBI-13059134
AQP9 [O43315]3EBI-12256978,EBI-17444777
BCL2L13 [Q9BXK5]3EBI-12256978,EBI-747430
BIK [Q13323]3EBI-12256978,EBI-700794
BSCL2 [J3KQ12]3EBI-12256978,EBI-11532900
BTN2A1 - isoform 4 [Q7KYR7-4]3EBI-12256978,EBI-17841208
CD200R1 - isoform 4 [Q8TD46-4]3EBI-12256978,EBI-12824513
CD53 [P19397]3EBI-12256978,EBI-6657396
CD74 - isoform p35 [P04233-2]3EBI-12256978,EBI-12222807
CLEC14A [Q86T13]3EBI-12256978,EBI-17710733
CLEC2D - isoform 2 [Q9UHP7-3]3EBI-12256978,EBI-11749983
CLRN1 [P58418]3EBI-12256978,EBI-17274839
CREB3 - isoform 1 [O43889-2]3EBI-12256978,EBI-625022
CXCR3 [P49682]3EBI-12256978,EBI-12836456
CYSRT1 [A8MQ03]3EBI-12256978,EBI-3867333
ERGIC3 [Q9Y282]3EBI-12256978,EBI-781551
FAM209A [Q5JX71]3EBI-12256978,EBI-18304435
FCGR1A [P12314]3EBI-12256978,EBI-2869867
FCGRT [P55899]3EBI-12256978,EBI-2833934
FKBP7 [Q9Y680]3EBI-12256978,EBI-3918971
FNDC9 [Q8TBE3]3EBI-12256978,EBI-12142257
GGT7 [Q9UJ14]3EBI-12256978,EBI-1058791
GJA8 [P48165]3EBI-12256978,EBI-17458373
GORAB [Q5T7V8]3EBI-12256978,EBI-3917143
GPR161 [Q8N6U8]3EBI-12256978,EBI-6255622
GPX8 [Q8TED1]3EBI-12256978,EBI-11721746
HSD17B13 [Q7Z5P4]3EBI-12256978,EBI-18053395
ICAM3 [P32942]3EBI-12256978,EBI-725421
IFNGR2 [P38484]3EBI-12256978,EBI-3905457
IL3RA [P26951]3EBI-12256978,EBI-1757512
KEL [P23276]3EBI-12256978,EBI-746662
KIR2DL3 [P43628]3EBI-12256978,EBI-8632435
KRT31 [Q15323]3EBI-12256978,EBI-948001
KRT34 [O76011]3EBI-12256978,EBI-1047093
LAPTM5 [Q13571]3EBI-12256978,EBI-2865663
LRRC25 [Q8N386]3EBI-12256978,EBI-11304917
LRRC4C [Q9HCJ2]3EBI-12256978,EBI-3925442
MFF - isoform 5 [Q9GZY8-5]3EBI-12256978,EBI-11956541
MS4A14 [Q96JA4]3EBI-12256978,EBI-12839612
MS4A4A [Q96JQ5]3EBI-12256978,EBI-12820341
MUC1 - isoform Y-LSP [P15941-11]3EBI-12256978,EBI-17263240
PDZK1IP1 [Q13113]3EBI-12256978,EBI-716063
PKD2L1 [Q9P0L9]3EBI-12256978,EBI-7956847
PLEKHB2 [Q96CS7]3EBI-12256978,EBI-373552
PVR [P15151]3EBI-12256978,EBI-3919694
SAR1A [Q9NR31]3EBI-12256978,EBI-3920694
SCARB2 [Q14108]3EBI-12256978,EBI-1564650
SGPL1 [O95470]3EBI-12256978,EBI-1046170
SLAMF6 [Q96DU3]3EBI-12256978,EBI-14058448
SLC10A1 [Q14973]3EBI-12256978,EBI-3923031
SLC35C2 - isoform 3 [Q9NQQ7-3]3EBI-12256978,EBI-17295964
SPACA1 [Q9HBV2]3EBI-12256978,EBI-17498703
STOM [P27105]3EBI-12256978,EBI-1211440
STOML3 [Q8TAV4]3EBI-12256978,EBI-12900395
SUSD3 [Q96L08]3EBI-12256978,EBI-18194029
SYNE4 - isoform 2 [Q8N205-2]3EBI-12256978,EBI-12099160
TM4SF18 [Q96CE8]3EBI-12256978,EBI-13351685
TMEM106C [Q9BVX2]3EBI-12256978,EBI-2821497
TMEM248 [Q9NWD8]3EBI-12256978,EBI-10314986
TMEM52B [Q4KMG9]3EBI-12256978,EBI-18178701
TMEM80 [Q96HE8]3EBI-12256978,EBI-11742770
TNFSF14 [O43557]3EBI-12256978,EBI-524131
Cldn10 [Q9Z0S6] from Mus musculus.2EBI-12256978,EBI-15799971

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
127213, 66 interactors

Database of interacting proteins

More...
DIPi
DIP-48953N

Protein interaction database and analysis system

More...
IntActi
Q8N6F1, 68 interactors

Molecular INTeraction database

More...
MINTi
Q8N6F1

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000296387

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q8N6F1, protein

<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

3D structure databases

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

More...
SMRi
Q8N6F1

Database of comparative protein structure models

More...
ModBasei
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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni191 – 224DisorderedSequence analysisAdd BLAST34

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the claudin family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG502QTG5, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00940000158624

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_076370_2_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8N6F1

Identification of Orthologs from Complete Genome Data

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OMAi
ARFEFGP

Database of Orthologous Groups

More...
OrthoDBi
1244077at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8N6F1

TreeFam database of animal gene trees

More...
TreeFami
TF331936

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR006187, Claudin
IPR017974, Claudin_CS
IPR004031, PMP22/EMP/MP20/Claudin

The PANTHER Classification System

More...
PANTHERi
PTHR12002, PTHR12002, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00822, PMP22_Claudin, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS01346, CLAUDIN, 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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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
Isoform 1 (identifier: Q8N6F1-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MANSGLQLLG YFLALGGWVG IIASTALPQW KQSSYAGDAI ITAVGLYEGL
60 70 80 90 100
WMSCASQSTG QVQCKLYDSL LALDGHIQSA RALMVVAVLL GFVAMVLSVV
110 120 130 140 150
GMKCTRVGDS NPIAKGRVAI AGGALFILAG LCTLTAVSWY ATLVTQEFFN
160 170 180 190 200
PSTPVNARYE FGPALFVGWA SAGLAVLGGS FLCCTCPEPE RPNSSPQPYR
210 220
PGPSAAAREP VVKLPASAKG PLGV
Length:224
Mass (Da):23,229
Last modified:May 24, 2004 - 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:i60E1A21902415219
GO
Isoform 2 (identifier: Q8N6F1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     210-224: PVVKLPASAKGPLGV → YV

Show »
Length:211
Mass (Da):22,077
Checksum:i8AE4544AA1CE6462
GO
Isoform 3 (identifier: Q8N6F1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     131-224: LCTLTAVSWY...PASAKGPLGV → MNLAQPCSWA...GQGHWGIGWA

Show »
Length:218
Mass (Da):22,721
Checksum:iD87396823B61D780
GO

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 conflicti46L → P in BAC04691 (PubMed:14702039).Curated1
Isoform 3 (identifier: Q8N6F1-3)
Sequence conflicti186R → C in BAH12918 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03123813L → F. Corresponds to variant dbSNP:rs12065961EnsemblClinVar.1
Natural variantiVAR_03123920G → D in HOMG5; perinuclear retention of the mutant protein. 1 PublicationCorresponds to variant dbSNP:rs118203979EnsemblClinVar.1
Natural variantiVAR_03124057Q → E in HOMG5; the mutant protein inserts correctly into the cell membrane although subsequent analyzes suggested that dimer formation was disrupted. 1 PublicationCorresponds to variant dbSNP:rs118203980EnsemblClinVar.1
Natural variantiVAR_03124190L → P in HOMG5. 1 PublicationCorresponds to variant dbSNP:rs118203981EnsemblClinVar.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_044839131 – 224LCTLT…GPLGV → MNLAQPCSWAGPQLAWPCWA APSSAAHARSQRDPTAAHSP IGLDPLLLPESTSELRLPWP APHPVAPLPSIQPASQHPGQ GHWGIGWA in isoform 3. 1 PublicationAdd BLAST94
Alternative sequenceiVSP_010342210 – 224PVVKL…GPLGV → YV in isoform 2. 2 PublicationsAdd BLAST15

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
AF497644 mRNA Translation: AAQ07256.1
AK096063 mRNA Translation: BAC04691.1
AK298992 mRNA Translation: BAH12918.1
AC098484 Genomic DNA No translation available.
CH471059 Genomic DNA Translation: EAX07147.1
BC030524 mRNA Translation: AAH30524.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS44125.1 [Q8N6F1-2]
CCDS471.1 [Q8N6F1-1]
CCDS53306.1 [Q8N6F1-3]

NCBI Reference Sequences

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RefSeqi
NP_001116867.1, NM_001123395.1 [Q8N6F1-2]
NP_001172046.1, NM_001185117.1 [Q8N6F1-3]
NP_683763.2, NM_148960.2 [Q8N6F1-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000296387; ENSP00000296387; ENSG00000164007 [Q8N6F1-1]
ENST00000372539; ENSP00000361617; ENSG00000164007 [Q8N6F1-2]
ENST00000539749; ENSP00000443229; ENSG00000164007 [Q8N6F1-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
149461

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:149461

UCSC genome browser

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UCSCi
uc001cht.1, human [Q8N6F1-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AF497644 mRNA Translation: AAQ07256.1
AK096063 mRNA Translation: BAC04691.1
AK298992 mRNA Translation: BAH12918.1
AC098484 Genomic DNA No translation available.
CH471059 Genomic DNA Translation: EAX07147.1
BC030524 mRNA Translation: AAH30524.1
CCDSiCCDS44125.1 [Q8N6F1-2]
CCDS471.1 [Q8N6F1-1]
CCDS53306.1 [Q8N6F1-3]
RefSeqiNP_001116867.1, NM_001123395.1 [Q8N6F1-2]
NP_001172046.1, NM_001185117.1 [Q8N6F1-3]
NP_683763.2, NM_148960.2 [Q8N6F1-1]

3D structure databases

SMRiQ8N6F1
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi127213, 66 interactors
DIPiDIP-48953N
IntActiQ8N6F1, 68 interactors
MINTiQ8N6F1
STRINGi9606.ENSP00000296387

Protein family/group databases

TCDBi1.H.1.1.5, the claudin tight junction (claudin1) family

PTM databases

PhosphoSitePlusiQ8N6F1

Genetic variation databases

BioMutaiCLDN19
DMDMi47606757

Proteomic databases

MassIVEiQ8N6F1
PaxDbiQ8N6F1
PeptideAtlasiQ8N6F1
PRIDEiQ8N6F1
ProteomicsDBi26945
72162 [Q8N6F1-1]
72163 [Q8N6F1-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
32237, 159 antibodies

The DNASU plasmid repository

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DNASUi
149461

Genome annotation databases

EnsembliENST00000296387; ENSP00000296387; ENSG00000164007 [Q8N6F1-1]
ENST00000372539; ENSP00000361617; ENSG00000164007 [Q8N6F1-2]
ENST00000539749; ENSP00000443229; ENSG00000164007 [Q8N6F1-3]
GeneIDi149461
KEGGihsa:149461
UCSCiuc001cht.1, human [Q8N6F1-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
149461
DisGeNETi149461

GeneCards: human genes, protein and diseases

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GeneCardsi
CLDN19
HGNCiHGNC:2040, CLDN19
HPAiENSG00000164007, Group enriched (brain, kidney, placenta, retina)
MalaCardsiCLDN19
MIMi248190, phenotype
610036, gene
neXtProtiNX_Q8N6F1
OpenTargetsiENSG00000164007
Orphaneti2196, Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
PharmGKBiPA26566
VEuPathDBiHostDB:ENSG00000164007.10

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiENOG502QTG5, Eukaryota
GeneTreeiENSGT00940000158624
HOGENOMiCLU_076370_2_0_1
InParanoidiQ8N6F1
OMAiARFEFGP
OrthoDBi1244077at2759
PhylomeDBiQ8N6F1
TreeFamiTF331936

Enzyme and pathway databases

PathwayCommonsiQ8N6F1
ReactomeiR-HSA-420029, Tight junction interactions

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
149461, 14 hits in 980 CRISPR screens

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
CLDN19

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

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GenomeRNAii
149461
PharosiQ8N6F1, Tbio

Protein Ontology

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PROi
PR:Q8N6F1
RNActiQ8N6F1, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000164007, Expressed in trigeminal ganglion and 166 other tissues
GenevisibleiQ8N6F1, HS

Family and domain databases

InterProiView protein in InterPro
IPR006187, Claudin
IPR017974, Claudin_CS
IPR004031, PMP22/EMP/MP20/Claudin
PANTHERiPTHR12002, PTHR12002, 1 hit
PfamiView protein in Pfam
PF00822, PMP22_Claudin, 1 hit
PROSITEiView protein in PROSITE
PS01346, CLAUDIN, 1 hit

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<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 nameiCLD19_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: Q8N6F1
Secondary accession number(s): B7Z5I2
, F5H5P9, Q5QT57, Q8N8X0
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 17, 2003
Last sequence update: May 24, 2004
Last modified: June 2, 2021
This is version 167 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

Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  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
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