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Entry version 138 (10 Apr 2019)
Sequence version 2 (17 Oct 2006)
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Protein

Protein crumbs homolog 2

Gene

CRB2

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

Apical polarity protein that plays a central role during the epithelial-to-mesenchymal transition (EMT) at gastrulation, when newly specified mesodermal cells move inside the embryo. Acts by promoting cell ingression, the process by which cells leave the epithelial epiblast and move inside the embryo to form a new tissue layer. The anisotropic distribution of CRB2 and MYH10/myosin-IIB at cell edges define which cells will ingress: cells with high apical CRB2 are probably extruded from the epiblast by neighboring cells with high levels of apical MYH10/myosin-IIB. Also required for maintenance of the apical polarity complex during development of the cortex.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

Molecular functionDevelopmental protein
Biological processGastrulation
LigandCalcium

<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:
Protein crumbs homolog 2Curated
Alternative name(s):
Crumbs-like protein 2
<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:CRB2Imported
<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 9

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000148204.11

Human Gene Nomenclature Database

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HGNCi
HGNC:18688 CRB2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
609720 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q5IJ48

<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 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>Transmembranei1225 – 1245HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Cell membrane, Membrane, Secreted

<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

Focal segmental glomerulosclerosis 9 (FSGS9)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation.
See also OMIM:616220
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_073266620C → S in FSGS9; loss of function mutation. 1 PublicationCorresponds to variant dbSNP:rs879255250EnsemblClinVar.1
Natural variantiVAR_073267628R → C in FSGS9. 1 PublicationCorresponds to variant dbSNP:rs202128397EnsemblClinVar.1
Natural variantiVAR_073268629C → S in FSGS9; moderate loss of function mutation. 1 PublicationCorresponds to variant dbSNP:rs879255252EnsemblClinVar.1
Natural variantiVAR_0732721249R → Q in FSGS9. 1 PublicationCorresponds to variant dbSNP:rs147412276EnsemblClinVar.1
Ventriculomegaly with cystic kidney disease (VMCKD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe autosomal recessive developmental disorder manifesting in utero. It is characterized by cerebral ventriculomegaly, echogenic kidneys, microscopic renal tubular cysts and findings of congenital nephrosis.
See also OMIM:219730
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073269633R → W in VMCKD. 1 PublicationCorresponds to variant dbSNP:rs730880377EnsemblClinVar.1
Natural variantiVAR_073270643E → A in VMCKD. 1 PublicationCorresponds to variant dbSNP:rs730880300EnsemblClinVar.1
Natural variantiVAR_073271800N → K in VMCKD. 1 PublicationCorresponds to variant dbSNP:rs765676223EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
286204

MalaCards human disease database

More...
MalaCardsi
CRB2
MIMi219730 phenotype
616220 phenotype

Open Targets

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OpenTargetsi
ENSG00000148204

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

More...
Orphaneti
93213 Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
443988 Ventriculomegaly-cystic kidney disease

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134910460

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CRB2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
116241316

<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 denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 28Sequence analysisAdd BLAST28
<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_000000750229 – 1285Protein crumbs homolog 2Sequence analysisAdd BLAST1257

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 bondi71 ↔ 82PROSITE-ProRule annotation
Disulfide bondi76 ↔ 94PROSITE-ProRule annotation
Disulfide bondi96 ↔ 105PROSITE-ProRule annotation
Disulfide bondi112 ↔ 123PROSITE-ProRule annotation
Disulfide bondi117 ↔ 132PROSITE-ProRule annotation
Disulfide bondi134 ↔ 143PROSITE-ProRule annotation
Disulfide bondi150 ↔ 161PROSITE-ProRule annotation
Disulfide bondi155 ↔ 170PROSITE-ProRule annotation
Disulfide bondi172 ↔ 181PROSITE-ProRule annotation
Disulfide bondi188 ↔ 199PROSITE-ProRule annotation
Disulfide bondi193 ↔ 208PROSITE-ProRule annotation
Disulfide bondi210 ↔ 220PROSITE-ProRule annotation
Disulfide bondi227 ↔ 238PROSITE-ProRule annotation
Disulfide bondi232 ↔ 247PROSITE-ProRule annotation
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi235N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi249 ↔ 258PROSITE-ProRule annotation
Disulfide bondi265 ↔ 276PROSITE-ProRule annotation
Glycosylationi267O-linked (Glc...) serineBy similarity1
Disulfide bondi270 ↔ 306PROSITE-ProRule annotation
Disulfide bondi308 ↔ 317PROSITE-ProRule annotation
Disulfide bondi324 ↔ 335PROSITE-ProRule annotation
Disulfide bondi329 ↔ 344PROSITE-ProRule annotation
Disulfide bondi346 ↔ 355PROSITE-ProRule annotation
Disulfide bondi362 ↔ 373PROSITE-ProRule annotation
Disulfide bondi367 ↔ 382PROSITE-ProRule annotation
Disulfide bondi384 ↔ 393PROSITE-ProRule annotation
Disulfide bondi400 ↔ 411PROSITE-ProRule annotation
Disulfide bondi405 ↔ 424PROSITE-ProRule annotation
Disulfide bondi426 ↔ 435PROSITE-ProRule annotation
Glycosylationi438N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi478N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi579 ↔ 603PROSITE-ProRule annotation
Disulfide bondi609 ↔ 620PROSITE-ProRule annotation
Disulfide bondi614 ↔ 629PROSITE-ProRule annotation
Disulfide bondi631 ↔ 640PROSITE-ProRule annotation
Glycosylationi669N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi690N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi766 ↔ 805PROSITE-ProRule annotation
Glycosylationi786N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi800N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi811 ↔ 822PROSITE-ProRule annotation
Disulfide bondi816 ↔ 831PROSITE-ProRule annotation
Disulfide bondi833 ↔ 842PROSITE-ProRule annotation
Glycosylationi836N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi886N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi926N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1009N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1013 ↔ 1054PROSITE-ProRule annotation
Disulfide bondi1060 ↔ 1071PROSITE-ProRule annotation
Disulfide bondi1065 ↔ 1080PROSITE-ProRule annotation
Disulfide bondi1082 ↔ 1091PROSITE-ProRule annotation
Disulfide bondi1098 ↔ 1108PROSITE-ProRule annotation
Disulfide bondi1103 ↔ 1118PROSITE-ProRule annotation
Disulfide bondi1120 ↔ 1129PROSITE-ProRule annotation
Disulfide bondi1138 ↔ 1150PROSITE-ProRule annotation
Glycosylationi1141N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1144 ↔ 1159PROSITE-ProRule annotation
Glycosylationi1158N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1161 ↔ 1170PROSITE-ProRule annotation
Disulfide bondi1177 ↔ 1188PROSITE-ProRule annotation
Disulfide bondi1182 ↔ 1197PROSITE-ProRule annotation
Disulfide bondi1199 ↔ 1208PROSITE-ProRule annotation

<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

O-glucosylated by POGLUT1 at Ser-267; consists of an O-glucose trisaccharide, in which the O-glucose is elongated by the addition of two xylose residues. O-glucosylation is required for localization at the plasma membrane.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q5IJ48

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q5IJ48

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

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PaxDbi
Q5IJ48

PeptideAtlas

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PeptideAtlasi
Q5IJ48

PRoteomics IDEntifications database

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PRIDEi
Q5IJ48

ProteomicsDB human proteome resource

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ProteomicsDBi
62975
62976 [Q5IJ48-2]
62977 [Q5IJ48-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q5IJ48

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

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PhosphoSitePlusi
Q5IJ48

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in retina, fetal eye and brain. Also expressed in kidney, ARPE-19 and RPE/choroid cell lines, and at low levels in lung, placenta, and heart.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000148204 Expressed in 55 organ(s), highest expression level in brain

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q5IJ48 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA043674

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
130332, 2 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000362734

<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

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
2WO6X-ray2.50C4-9[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q5IJ48

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

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SMRi
Q5IJ48

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
Q5IJ48

<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>Domaini67 – 106EGF-like 1PROSITE-ProRule annotationAdd BLAST40
Domaini108 – 144EGF-like 2; calcium-bindingPROSITE-ProRule annotationAdd BLAST37
Domaini146 – 182EGF-like 3; calcium-bindingPROSITE-ProRule annotationAdd BLAST37
Domaini184 – 221EGF-like 4; calcium-bindingPROSITE-ProRule annotationAdd BLAST38
Domaini223 – 259EGF-like 5PROSITE-ProRule annotationAdd BLAST37
Domaini261 – 318EGF-like 6PROSITE-ProRule annotationAdd BLAST58
Domaini320 – 356EGF-like 7; calcium-bindingPROSITE-ProRule annotationAdd BLAST37
Domaini358 – 394EGF-like 8; calcium-bindingPROSITE-ProRule annotationAdd BLAST37
Domaini396 – 436EGF-like 9PROSITE-ProRule annotationAdd BLAST41
Domaini431 – 603Laminin G-like 1PROSITE-ProRule annotationAdd BLAST173
Domaini605 – 641EGF-like 10PROSITE-ProRule annotationAdd BLAST37
Domaini647 – 805Laminin G-like 2PROSITE-ProRule annotationAdd BLAST159
Domaini807 – 843EGF-like 11PROSITE-ProRule annotationAdd BLAST37
Domaini871 – 1054Laminin G-like 3PROSITE-ProRule annotationAdd BLAST184
Domaini1056 – 1092EGF-like 12PROSITE-ProRule annotationAdd BLAST37
Domaini1094 – 1130EGF-like 13PROSITE-ProRule annotationAdd BLAST37
Domaini1134 – 1171EGF-like 14PROSITE-ProRule annotationAdd BLAST38
Domaini1173 – 1209EGF-like 15PROSITE-ProRule annotationAdd BLAST37

<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 Crumbs protein family.Curated

Keywords - Domaini

EGF-like domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1217 Eukaryota
ENOG410XP6K LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00950000183101

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG080001

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q5IJ48

KEGG Orthology (KO)

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KOi
K16681

Identification of Orthologs from Complete Genome Data

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OMAi
RCEQEVL

Database of Orthologous Groups

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OrthoDBi
111153at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q5IJ48

TreeFam database of animal gene trees

More...
TreeFami
TF316224

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR013320 ConA-like_dom_sf
IPR001881 EGF-like_Ca-bd_dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR000152 EGF-type_Asp/Asn_hydroxyl_site
IPR018097 EGF_Ca-bd_CS
IPR001791 Laminin_G

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00008 EGF, 9 hits
PF12661 hEGF, 1 hit
PF02210 Laminin_G_2, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00181 EGF, 15 hits
SM00179 EGF_CA, 12 hits
SM00282 LamG, 3 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF49899 SSF49899, 3 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00010 ASX_HYDROXYL, 7 hits
PS00022 EGF_1, 14 hits
PS01186 EGF_2, 8 hits
PS50026 EGF_3, 15 hits
PS01187 EGF_CA, 5 hits
PS50025 LAM_G_DOMAIN, 2 hits

<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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

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: Q5IJ48-1) [UniParc]FASTAAdd to basket

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
MALARPGTPD PQALASVLLL LLWAPALSLL AGTVPSEPPS ACASDPCAPG
60 70 80 90 100
TECQATESGG YTCGPMEPRG CATQPCHHGA LCVPQGPDPT GFRCYCVPGF
110 120 130 140 150
QGPRCELDID ECASRPCHHG ATCRNLADRY ECHCPLGYAG VTCEMEVDEC
160 170 180 190 200
ASAPCLHGGS CLDGVGSFRC VCAPGYGGTR CQLDLDECQS QPCAHGGTCH
210 220 230 240 250
DLVNGFRCDC AGTGYEGTHC EREVLECASA PCEHNASCLE GLGSFRCLCW
260 270 280 290 300
PGYSGELCEV DEDECASSPC QHGGRCLQRS DPALYGGVQA AFPGAFSFRH
310 320 330 340 350
AAGFLCHCPP GFEGADCGVE VDECASRPCL NGGHCQDLPN GFQCHCPDGY
360 370 380 390 400
AGPTCEEDVD ECLSDPCLHG GTCSDTVAGY ICRCPETWGG RDCSVQLTGC
410 420 430 440 450
QGHTCPLAAT CIPIFESGVH SYVCHCPPGT HGPFCGQNTT FSVMAGSPIQ
460 470 480 490 500
ASVPAGGPLG LALRFRTTLP AGTLATRNDT KESLELALVA ATLQATLWSY
510 520 530 540 550
STTVLVLRLP DLALNDGHWH QVEVVLHLAT LELRLWHEGC PARLCVASGP
560 570 580 590 600
VALASTASAT PLPAGISSAQ LGDATFAGCL QDVRVDGHLL LPEDLGENVL
610 620 630 640 650
LGCERREQCR PLPCVHGGSC VDLWTHFRCD CARPHRGPTC ADEIPAATFG
660 670 680 690 700
LGGAPSSASF LLQELPGPNL TVSFLLRTRE SAGLLLQFAN DSAAGLTVFL
710 720 730 740 750
SEGRIRAEVP GSPAVVLPGR WDDGLRHLVM LSFGPDQLQD LGQHVHVGGR
760 770 780 790 800
LLAADSQPWG GPFRGCLQDL RLDGCHLPFF PLPLDNSSQP SELGGRQSWN
810 820 830 840 850
LTAGCVSEDM CSPDPCFNGG TCLVTWNDFH CTCPANFTGP TCAQQLWCPG
860 870 880 890 900
QPCLPPATCE EVPDGFVCVA EATFREGPPA AFSGHNASSG RLLGGLSLAF
910 920 930 940 950
RTRDSEAWLL RAAAGALEGV WLAVRNGSLA GGVRGGHGLP GAVLPIPGPR
960 970 980 990 1000
VADGAWHRVR LAMERPAATT SRWLLWLDGA ATPVALRGLA SDLGFLQGPG
1010 1020 1030 1040 1050
AVRILLAENF TGCLGRVALG GLPLPLARPR PGAAPGAREH FASWPGTPAP
1060 1070 1080 1090 1100
ILGCRGAPVC APSPCLHDGA CRDLFDAFAC ACGPGWEGPR CEAHVDPCHS
1110 1120 1130 1140 1150
APCARGRCHT HPDGRFECRC PPGFGGPRCR LPVPSKECSL NVTCLDGSPC
1160 1170 1180 1190 1200
EGGSPAANCS CLEGLAGQRC QVPTLPCEAN PCLNGGTCRA AGGVSECICN
1210 1220 1230 1240 1250
ARFSGQFCEV AKGLPLPLPF PLLEVAVPAA CACLLLLLLG LLSGILAARK
1260 1270 1280
RRQSEGTYSP SQQEVAGARL EMDSVLKVPP EERLI
Length:1,285
Mass (Da):134,265
Last modified:October 17, 2006 - 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:iC5B7E9D7A91CD703
GO
Isoform 2 (identifier: Q5IJ48-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1131-1176: LPVPSKECSL...GQRCQVPTLP → WDGWAGGWAA...VLICDMRRTV
     1177-1285: Missing.

Note: No experimental confirmation available.
Show »
Length:1,176
Mass (Da):123,213
Checksum:iA33CB9D605EDE5A0
GO
Isoform 3 (identifier: Q5IJ48-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-332: Missing.
     333-351: GHCQDLPNGFQCHCPDGYA → MAMEPGALWTFLGHLWLLA

Note: No experimental confirmation available.
Show »
Length:953
Mass (Da):99,830
Checksum:i277A62189E3BEC0D
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 conflicti430T → A in BAC86684 (PubMed:14702039).Curated1
Sequence conflicti969T → A in AK123000 (PubMed:14702039).Curated1
Sequence conflicti969T → A in BAC86684 (PubMed:14702039).Curated1
Sequence conflicti1153G → R in BAC86684 (PubMed:14702039).Curated1
Sequence conflicti1239Missing in BAC86684 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02298446P → L1 PublicationCorresponds to variant dbSNP:rs73571404Ensembl.1
Natural variantiVAR_04897490T → N1 PublicationCorresponds to variant dbSNP:rs2808415Ensembl.1
Natural variantiVAR_02298597V → L1 Publication1
Natural variantiVAR_022986116P → L1 PublicationCorresponds to variant dbSNP:rs542211566Ensembl.1
Natural variantiVAR_022987145M → T2 PublicationsCorresponds to variant dbSNP:rs1105223Ensembl.1
Natural variantiVAR_022988159G → A2 PublicationsCorresponds to variant dbSNP:rs1105222Ensembl.1
Natural variantiVAR_022989187E → D1 Publication1
Natural variantiVAR_022990351A → T1 PublicationCorresponds to variant dbSNP:rs199679542Ensembl.1
Natural variantiVAR_022991534R → Q1 PublicationCorresponds to variant dbSNP:rs370059953Ensembl.1
Natural variantiVAR_022992610R → W1 PublicationCorresponds to variant dbSNP:rs145286619Ensembl.1
Natural variantiVAR_073266620C → S in FSGS9; loss of function mutation. 1 PublicationCorresponds to variant dbSNP:rs879255250EnsemblClinVar.1
Natural variantiVAR_073267628R → C in FSGS9. 1 PublicationCorresponds to variant dbSNP:rs202128397EnsemblClinVar.1
Natural variantiVAR_073268629C → S in FSGS9; moderate loss of function mutation. 1 PublicationCorresponds to variant dbSNP:rs879255252EnsemblClinVar.1
Natural variantiVAR_073269633R → W in VMCKD. 1 PublicationCorresponds to variant dbSNP:rs730880377EnsemblClinVar.1
Natural variantiVAR_073270643E → A in VMCKD. 1 PublicationCorresponds to variant dbSNP:rs730880300EnsemblClinVar.1
Natural variantiVAR_061153709V → A2 PublicationsCorresponds to variant dbSNP:rs2488602Ensembl.1
Natural variantiVAR_022993746H → Q1 PublicationCorresponds to variant dbSNP:rs757353722Ensembl.1
Natural variantiVAR_073271800N → K in VMCKD. 1 PublicationCorresponds to variant dbSNP:rs765676223EnsemblClinVar.1
Natural variantiVAR_0229941110T → M1 PublicationCorresponds to variant dbSNP:rs73571431Ensembl.1
Natural variantiVAR_0732721249R → Q in FSGS9. 1 PublicationCorresponds to variant dbSNP:rs147412276EnsemblClinVar.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_0147371 – 332Missing in isoform 3. 1 PublicationAdd BLAST332
Alternative sequenceiVSP_014738333 – 351GHCQD…PDGYA → MAMEPGALWTFLGHLWLLA in isoform 3. 1 PublicationAdd BLAST19
Alternative sequenceiVSP_0147391131 – 1176LPVPS…VPTLP → WDGWAGGWAANAPWGYGGAE KSARSVDESLPFPGPHVLIC DMRRTV in isoform 2. 1 PublicationAdd BLAST46
Alternative sequenceiVSP_0147401177 – 1285Missing in isoform 2. 1 PublicationAdd BLAST109

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AY720432 mRNA Translation: AAU14134.1
AK123000 mRNA No translation available.
AK126775 mRNA Translation: BAC86684.1
AL445489 Genomic DNA No translation available.
AL365504 Genomic DNA No translation available.
DQ426866 mRNA Translation: ABD90532.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS6852.2 [Q5IJ48-1]

NCBI Reference Sequences

More...
RefSeqi
NP_775960.4, NM_173689.6 [Q5IJ48-1]
XP_005251991.1, XM_005251934.2 [Q5IJ48-3]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.568340
Hs.710092

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000359999; ENSP00000353092; ENSG00000148204 [Q5IJ48-2]
ENST00000373631; ENSP00000362734; ENSG00000148204 [Q5IJ48-1]
ENST00000460253; ENSP00000435279; ENSG00000148204 [Q5IJ48-3]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
286204

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:286204

UCSC genome browser

More...
UCSCi
uc004bnw.3 human [Q5IJ48-1]

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
AY720432 mRNA Translation: AAU14134.1
AK123000 mRNA No translation available.
AK126775 mRNA Translation: BAC86684.1
AL445489 Genomic DNA No translation available.
AL365504 Genomic DNA No translation available.
DQ426866 mRNA Translation: ABD90532.1
CCDSiCCDS6852.2 [Q5IJ48-1]
RefSeqiNP_775960.4, NM_173689.6 [Q5IJ48-1]
XP_005251991.1, XM_005251934.2 [Q5IJ48-3]
UniGeneiHs.568340
Hs.710092

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2WO6X-ray2.50C4-9[»]
ProteinModelPortaliQ5IJ48
SMRiQ5IJ48
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi130332, 2 interactors
STRINGi9606.ENSP00000362734

PTM databases

iPTMnetiQ5IJ48
PhosphoSitePlusiQ5IJ48

Polymorphism and mutation databases

BioMutaiCRB2
DMDMi116241316

Proteomic databases

EPDiQ5IJ48
jPOSTiQ5IJ48
PaxDbiQ5IJ48
PeptideAtlasiQ5IJ48
PRIDEiQ5IJ48
ProteomicsDBi62975
62976 [Q5IJ48-2]
62977 [Q5IJ48-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000359999; ENSP00000353092; ENSG00000148204 [Q5IJ48-2]
ENST00000373631; ENSP00000362734; ENSG00000148204 [Q5IJ48-1]
ENST00000460253; ENSP00000435279; ENSG00000148204 [Q5IJ48-3]
GeneIDi286204
KEGGihsa:286204
UCSCiuc004bnw.3 human [Q5IJ48-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
286204
DisGeNETi286204
EuPathDBiHostDB:ENSG00000148204.11

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CRB2

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0008365
HGNCiHGNC:18688 CRB2
HPAiHPA043674
MalaCardsiCRB2
MIMi219730 phenotype
609720 gene
616220 phenotype
neXtProtiNX_Q5IJ48
OpenTargetsiENSG00000148204
Orphaneti93213 Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
443988 Ventriculomegaly-cystic kidney disease
PharmGKBiPA134910460

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1217 Eukaryota
ENOG410XP6K LUCA
GeneTreeiENSGT00950000183101
HOVERGENiHBG080001
InParanoidiQ5IJ48
KOiK16681
OMAiRCEQEVL
OrthoDBi111153at2759
PhylomeDBiQ5IJ48
TreeFamiTF316224

Miscellaneous databases

EvolutionaryTraceiQ5IJ48

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

More...
GenomeRNAii
286204

Protein Ontology

More...
PROi
PR:Q5IJ48

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000148204 Expressed in 55 organ(s), highest expression level in brain
GenevisibleiQ5IJ48 HS

Family and domain databases

InterProiView protein in InterPro
IPR013320 ConA-like_dom_sf
IPR001881 EGF-like_Ca-bd_dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR000152 EGF-type_Asp/Asn_hydroxyl_site
IPR018097 EGF_Ca-bd_CS
IPR001791 Laminin_G
PfamiView protein in Pfam
PF00008 EGF, 9 hits
PF12661 hEGF, 1 hit
PF02210 Laminin_G_2, 1 hit
SMARTiView protein in SMART
SM00181 EGF, 15 hits
SM00179 EGF_CA, 12 hits
SM00282 LamG, 3 hits
SUPFAMiSSF49899 SSF49899, 3 hits
PROSITEiView protein in PROSITE
PS00010 ASX_HYDROXYL, 7 hits
PS00022 EGF_1, 14 hits
PS01186 EGF_2, 8 hits
PS50026 EGF_3, 15 hits
PS01187 EGF_CA, 5 hits
PS50025 LAM_G_DOMAIN, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

More...
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 nameiCRUM2_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: Q5IJ48
Secondary accession number(s): A2A3N4
, Q0QD46, Q5JS41, Q5JS43, Q6ZTA9, Q6ZWI6
<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: July 19, 2005
Last sequence update: October 17, 2006
Last modified: April 10, 2019
This is version 138 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. SIMILARITY comments
    Index of protein domains and families
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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