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UniProtKB - Q6UWL6 (KIRR2_HUMAN)

Entry version 145 (18 Sep 2019)
Sequence version 2 (05 Oct 2010)
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Protein

Kin of IRRE-like protein 2

Gene

KIRREL2

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

May regulate basal insulin secretion.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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-373753 Nephrin family interactions

<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:
Kin of IRRE-like protein 2
Alternative name(s):
Kin of irregular chiasm-like protein 2
Nephrin-like protein 3
<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:KIRREL2
Synonyms:NEPH3
ORF Names:UNQ5827/PRO19646
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 19

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:18816 KIRREL2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		607762 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q6UWL6

<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 domaini21 – 510ExtracellularSequence analysisAdd BLAST490
<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>Transmembranei511 – 531HelicalSequence analysisAdd BLAST21
Topological domaini532 – 708CytoplasmicSequence analysisAdd BLAST177

<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>Keywords - Cellular componenti

Cell membrane, Membrane

<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

Organism-specific databases

DisGeNET

More...DisGeNETi		84063

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA38693

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q6UWL6

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		KIRREL2

Domain mapping of disease mutations (DMDM)

More...DMDMi		308153459

<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 – 201 PublicationAdd BLAST20
<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_000001509621 – 708Kin of IRRE-like protein 2Add BLAST688

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 bondi45 ↔ 103PROSITE-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>Glycosylationi143N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi146 ↔ 204PROSITE-ProRule annotation
Disulfide bondi248 ↔ 291PROSITE-ProRule annotation
Glycosylationi301N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi333 ↔ 375PROSITE-ProRule annotation
Disulfide bondi419 ↔ 485PROSITE-ProRule annotation
Glycosylationi484N-linked (GlcNAc...) asparagineSequence analysis1
<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 residuei571PhosphoserineBy similarity1
Modified residuei603PhosphotyrosineBy similarity1
Modified residuei604PhosphotyrosineBy similarity1
Modified residuei661PhosphotyrosineBy similarity1

<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

N-glycosylated.By similarity
The extracellular domain is cleaved leading to the generation of a soluble fragment and a membrane-bound C-terminal fragment, which is further cleaved by gamma-secretase.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q6UWL6

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

More...PaxDbi		Q6UWL6

PeptideAtlas

More...PeptideAtlasi		Q6UWL6

PRoteomics IDEntifications database

More...PRIDEi		Q6UWL6

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		67493 [Q6UWL6-1]
67494 [Q6UWL6-2]
67495 [Q6UWL6-3]
67497 [Q6UWL6-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q6UWL6

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

More...PhosphoSitePlusi		Q6UWL6

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q6UWL6

<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

Highly expressed in beta-cells of the pancreatic islets.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000126259 Expressed in 66 organ(s), highest expression level in body of pancreas

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q6UWL6 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q6UWL6 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA071587
HPA074326

<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

Homodimer.

Interacts with NPHS2/podocin (via the C-terminus).

Interacts with NPHS1 (via the Ig-like domains).

Interacts with FYN.

By similarity

<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

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		123858, 11 interactors

Protein interaction database and analysis system

More...IntActi		Q6UWL6, 7 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000353331

<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>Domaini24 – 118Ig-like C2-type 1Add BLAST95
Domaini123 – 222Ig-like C2-type 2Add BLAST100
Domaini227 – 307Ig-like C2-type 3Add BLAST81
Domaini312 – 394Ig-like C2-type 4Add BLAST83
Domaini398 – 501Ig-like C2-type 5Add BLAST104

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi149 – 151Cell attachment siteSequence analysis3

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 biasi565 – 568Poly-Glu4
Compositional biasi626 – 702Pro-richAdd BLAST77

<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 immunoglobulin superfamily.Curated

Keywords - Domaini

Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3510 Eukaryota
ENOG410XPX0 LUCA

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q6UWL6

Database of Orthologous Groups

More...OrthoDBi		269917at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q6UWL6

TreeFam database of animal gene trees

More...TreeFami		TF327139

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.60.40.10, 5 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR013162 CD80_C2-set
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR013098 Ig_I-set
IPR003599 Ig_sub
IPR003598 Ig_sub2

Pfam protein domain database

More...Pfami		View protein in Pfam
PF08205 C2-set_2, 1 hit
PF07679 I-set, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00409 IG, 5 hits
SM00408 IGc2, 3 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48726 SSF48726, 5 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50835 IG_LIKE, 5 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>. 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 (4+)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 4 <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 4 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q6UWL6-1) [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
MLRMRVPALL VLLFCFRGRA GPSPHFLQQP EDLVVLLGEE ARLPCALGAY 
        60         70         80         90        100
WGLVQWTKSG LALGGQRDLP GWSRYWISGN AANGQHDLHI RPVELEDEAS 
       110        120        130        140        150
YECQATQAGL RSRPAQLHVL VPPEAPQVLG GPSVSLVAGV PANLTCRSRG 
       160        170        180        190        200
DARPTPELLW FRDGVLLDGA TFHQTLLKEG TPGSVESTLT LTPFSHDDGA 
       210        220        230        240        250
TFVCRARSQA LPTGRDTAIT LSLQYPPEVT LSASPHTVQE GEKVIFLCQA 
       260        270        280        290        300
TAQPPVTGYR WAKGGSPVLG ARGPRLEVVA DASFLTEPVS CEVSNAVGSA 
       310        320        330        340        350
NRSTALDVLF GPILQAKPEP VSVDVGEDAS FSCAWRGNPL PRVTWTRRGG 
       360        370        380        390        400
AQVLGSGATL RLPSVGPEDA GDYVCRAEAG LSGLRGGAAE ARLTVNAPPV 
       410        420        430        440        450
VTALHSAPAF LRGPARLQCL VFASPAPDAV VWSWDEGFLE AGSQGRFLVE 
       460        470        480        490        500
TFPAPESRGG LGPGLISVLH ISGTQESDFS RSFNCSARNR LGEGGAQASL 
       510        520        530        540        550
GRRDLLPTVR IVAGVAAATT TLLMVITGVA LCCWRHSKAS ASFSEQKNLM 
       560        570        580        590        600
RIPGSSDGSS SRGPEEEETG SREDRGPIVH TDHSDLVLEE KGTLETKDPT 
       610        620        630        640        650
NGYYKVRGVS VSLSLGEAPG GGLFLPPPSP LGPPGTPTFY DFNPHLGMVP 
       660        670        680        690        700
PCRLYRARAG YLTTPHPRAF TSYIKPTSFG PPDLAPGTPP FPYAAFPTPS 

HPRLQTHV
Length:708
Mass (Da):75,092
Last modified:October 5, 2010 - 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:i97978D011D7A9990
GO
Isoform 2 (identifier: Q6UWL6-2) [UniParc]FASTAAdd to basket
Also known as: Kirrel2a

The sequence of this isoform differs from the canonical sequence as follows:
     611-633: VSLSLGEAPGGGLFLPPPSPLGP → PPASPDSRVTSFQWKSPGISNLP
     634-708: Missing.

Show »
Length:633
Mass (Da):67,127
Checksum:i1AC25FAC24E1A752
GO
Isoform 3 (identifier: Q6UWL6-3) [UniParc]FASTAAdd to basket
Also known as: Kirrel2b

The sequence of this isoform differs from the canonical sequence as follows:
     21-70: Missing.
     611-633: VSLSLGEAPGGGLFLPPPSPLGP → PPASPDSRVTSFQWKSPGISNLP
     634-708: Missing.

Show »
Length:583
Mass (Da):61,760
Checksum:iD9A1A55A195878CC
GO
Isoform 5 (identifier: Q6UWL6-5) [UniParc]FASTAAdd to basket
Also known as: Kirrel2c

The sequence of this isoform differs from the canonical sequence as follows:
     37-490: Missing.
     504-538: Missing.

Show »
Length:219
Mass (Da):23,583
Checksum:iE97979A763B34750
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0A0MQV3A0A0A0MQV3_HUMAN
Kin of IRRE-like protein 2
KIRREL2
633Annotation 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>
A0A0A0MRC1A0A0A0MRC1_HUMAN
Kin of IRRE-like protein 2
KIRREL2
583Annotation 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>
K7EJS8K7EJS8_HUMAN
Kin of IRRE-like protein 2
KIRREL2
673Annotation 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>
V9GXZ7V9GXZ7_HUMAN
Kin of IRRE-like protein 2
KIRREL2
191Annotation 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>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH64925 differs from that shown. Aberrant splicing.Curated

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 conflicti3R → W in AAP72167 (PubMed:12837264).Curated1
Sequence conflicti155T → A in CAB66589 (PubMed:17974005).Curated1
Sequence conflicti202F → L in AAP72166 (PubMed:12837264).Curated1
Sequence conflicti371G → D in AAP72166 (PubMed:12837264).Curated1
Sequence conflicti371G → D in AAP72167 (PubMed:12837264).Curated1
Sequence conflicti389A → V in AAP72167 (PubMed:12837264).Curated1
Sequence conflicti396N → D in AAP72167 (PubMed:12837264).Curated1
Sequence conflicti516A → V in AAP72166 (PubMed:12837264).Curated1
Sequence conflicti516A → V in AAP72167 (PubMed:12837264).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_05609819R → S. Corresponds to variant dbSNP:rs446014Ensembl.1
Natural variantiVAR_056099170A → T. Corresponds to variant dbSNP:rs404299Ensembl.1
Natural variantiVAR_056100353V → M. Corresponds to variant dbSNP:rs35423326Ensembl.1
Natural variantiVAR_056101556S → N. Corresponds to variant dbSNP:rs35775934Ensembl.1
Natural variantiVAR_067450591K → E5 PublicationsCorresponds to variant dbSNP:rs382789Ensembl.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_01178021 – 70Missing in isoform 3. 1 PublicationAdd BLAST50
Alternative sequenceiVSP_01178137 – 490Missing in isoform 5. 2 PublicationsAdd BLAST454
Alternative sequenceiVSP_011783504 – 538Missing in isoform 5. 2 PublicationsAdd BLAST35
Alternative sequenceiVSP_011784611 – 633VSLSL…SPLGP → PPASPDSRVTSFQWKSPGIS NLP in isoform 2 and isoform 3. 1 PublicationAdd BLAST23
Alternative sequenceiVSP_011785634 – 708Missing in isoform 2 and isoform 3. 1 PublicationAdd BLAST75

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
AY305301 mRNA Translation: AAP72166.1
AY305302 mRNA Translation: AAP72167.1
AL136654 mRNA Translation: CAB66589.2
AY358742 mRNA Translation: AAQ89102.1
AB593116 mRNA Translation: BAJ84056.1
AC002133 Genomic DNA No translation available.
AD000864 Genomic DNA No translation available.
BC007312 mRNA Translation: AAH07312.1
BC064925 mRNA Translation: AAH64925.1 Sequence problems.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS12479.1 [Q6UWL6-2]
CCDS12480.1 [Q6UWL6-3]
CCDS12481.1 [Q6UWL6-1]

NCBI Reference Sequences

More...RefSeqi		NP_001316459.1, NM_001329530.1
NP_115499.5, NM_032123.6
NP_954648.3, NM_199179.3
NP_954649.3, NM_199180.3
XP_011525664.1, XM_011527362.1
XP_011525665.1, XM_011527363.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000360202; ENSP00000353331; ENSG00000126259

Database of genes from NCBI RefSeq genomes

More...GeneIDi		84063

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:84063

UCSC genome browser

More...UCSCi		uc002ocb.5 human [Q6UWL6-1]

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
AY305301 mRNA Translation: AAP72166.1
AY305302 mRNA Translation: AAP72167.1
AL136654 mRNA Translation: CAB66589.2
AY358742 mRNA Translation: AAQ89102.1
AB593116 mRNA Translation: BAJ84056.1
AC002133 Genomic DNA No translation available.
AD000864 Genomic DNA No translation available.
BC007312 mRNA Translation: AAH07312.1
BC064925 mRNA Translation: AAH64925.1 Sequence problems.
CCDSiCCDS12479.1 [Q6UWL6-2]
CCDS12480.1 [Q6UWL6-3]
CCDS12481.1 [Q6UWL6-1]
RefSeqiNP_001316459.1, NM_001329530.1
NP_115499.5, NM_032123.6
NP_954648.3, NM_199179.3
NP_954649.3, NM_199180.3
XP_011525664.1, XM_011527362.1
XP_011525665.1, XM_011527363.1

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGridi123858, 11 interactors
IntActiQ6UWL6, 7 interactors
STRINGi9606.ENSP00000353331

PTM databases

iPTMnetiQ6UWL6
PhosphoSitePlusiQ6UWL6
SwissPalmiQ6UWL6

Polymorphism and mutation databases

BioMutaiKIRREL2
DMDMi308153459

Proteomic databases

MassIVEiQ6UWL6
PaxDbiQ6UWL6
PeptideAtlasiQ6UWL6
PRIDEiQ6UWL6
ProteomicsDBi67493 [Q6UWL6-1]
67494 [Q6UWL6-2]
67495 [Q6UWL6-3]
67497 [Q6UWL6-5]

Genome annotation databases

EnsembliENST00000360202; ENSP00000353331; ENSG00000126259
GeneIDi84063
KEGGihsa:84063
UCSCiuc002ocb.5 human [Q6UWL6-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		84063
DisGeNETi84063

GeneCards: human genes, protein and diseases

More...GeneCardsi		KIRREL2
HGNCiHGNC:18816 KIRREL2
HPAiHPA071587
HPA074326
MIMi607762 gene
neXtProtiNX_Q6UWL6
PharmGKBiPA38693

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3510 Eukaryota
ENOG410XPX0 LUCA
InParanoidiQ6UWL6
OrthoDBi269917at2759
PhylomeDBiQ6UWL6
TreeFamiTF327139

Enzyme and pathway databases

ReactomeiR-HSA-373753 Nephrin family interactions

Miscellaneous databases

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

More...ChiTaRSi		KIRREL2 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		KIRREL2

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

More...GenomeRNAii		84063
PharosiQ6UWL6

Protein Ontology

More...PROi		PR:Q6UWL6

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000126259 Expressed in 66 organ(s), highest expression level in body of pancreas
ExpressionAtlasiQ6UWL6 baseline and differential
GenevisibleiQ6UWL6 HS

Family and domain databases

Gene3Di2.60.40.10, 5 hits
InterProiView protein in InterPro
IPR013162 CD80_C2-set
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR013098 Ig_I-set
IPR003599 Ig_sub
IPR003598 Ig_sub2
PfamiView protein in Pfam
PF08205 C2-set_2, 1 hit
PF07679 I-set, 1 hit
SMARTiView protein in SMART
SM00409 IG, 5 hits
SM00408 IGc2, 3 hits
SUPFAMiSSF48726 SSF48726, 5 hits
PROSITEiView protein in PROSITE
PS50835 IG_LIKE, 5 hits

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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 nameiKIRR2_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: Q6UWL6
Secondary accession number(s): C9JHF1
, C9JJ76, F1T0I2, Q6P1R1, Q7Z5P1, Q7Z5P2, Q96IQ8, Q9H0T1
<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: October 25, 2004
Last sequence update: October 5, 2010
Last modified: September 18, 2019
This is version 145 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

Complete proteome, Direct protein sequencing, 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. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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