UniProtKB - Q6UWL6 (KIRR2_HUMAN)
Protein
Kin of IRRE-like protein 2
Gene
KIRREL2
Organism
Homo sapiens (Human)
Status
Functioni
May regulate basal insulin secretion.By similarity
GO - Molecular functioni
- cell adhesion molecule binding Source: GO_Central
- identical protein binding Source: UniProtKB
GO - Biological processi
- cell adhesion Source: UniProtKB
- cell-cell adhesion Source: GO_Central
- negative regulation of protein phosphorylation Source: Ensembl
Enzyme and pathway databases
PathwayCommonsi | Q6UWL6 |
Reactomei | R-HSA-373753, Nephrin family interactions |
Names & Taxonomyi
Protein namesi | Recommended name: Kin of IRRE-like protein 2Alternative name(s): Kin of irregular chiasm-like protein 2 Nephrin-like protein 3 |
Gene namesi | Name:KIRREL2 Synonyms:NEPH3 ORF Names:UNQ5827/PRO19646 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:18816, KIRREL2 |
MIMi | 607762, gene |
neXtProti | NX_Q6UWL6 |
VEuPathDBi | HostDB:ENSG00000126259.19 |
Subcellular locationi
Plasma membrane
- Cell membrane By similarity; Single-pass type I membrane protein Sequence analysis
Note: Localized along the sites of the cell contacts. Colocalizes with E-Cadherin and beta-catenin.By similarity
Plasma Membrane
- integral component of plasma membrane Source: GO_Central
- plasma membrane Source: UniProtKB
Other locations
- cell-cell junction Source: UniProtKB
- integral component of membrane Source: UniProtKB
- slit diaphragm Source: Ensembl
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 21 – 510 | ExtracellularSequence analysisAdd BLAST | 490 | |
Transmembranei | 511 – 531 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 532 – 708 | CytoplasmicSequence analysisAdd BLAST | 177 |
Keywords - Cellular componenti
Cell membrane, MembranePathology & Biotechi
Organism-specific databases
DisGeNETi | 84063 |
PharmGKBi | PA38693 |
Miscellaneous databases
Pharosi | Q6UWL6, Tbio |
Genetic variation databases
BioMutai | KIRREL2 |
DMDMi | 308153459 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 20 | 1 PublicationAdd BLAST | 20 | |
ChainiPRO_0000015096 | 21 – 708 | Kin of IRRE-like protein 2Add BLAST | 688 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Disulfide bondi | 45 ↔ 103 | PROSITE-ProRule annotation | ||
Glycosylationi | 143 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 146 ↔ 204 | PROSITE-ProRule annotation | ||
Disulfide bondi | 248 ↔ 291 | PROSITE-ProRule annotation | ||
Glycosylationi | 301 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 333 ↔ 375 | PROSITE-ProRule annotation | ||
Disulfide bondi | 419 ↔ 485 | PROSITE-ProRule annotation | ||
Glycosylationi | 484 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Modified residuei | 571 | PhosphoserineBy similarity | 1 | |
Modified residuei | 603 | PhosphotyrosineBy similarity | 1 | |
Modified residuei | 604 | PhosphotyrosineBy similarity | 1 | |
Modified residuei | 661 | PhosphotyrosineBy similarity | 1 |
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, PhosphoproteinProteomic databases
MassIVEi | Q6UWL6 |
PaxDbi | Q6UWL6 |
PeptideAtlasi | Q6UWL6 |
PRIDEi | Q6UWL6 |
ProteomicsDBi | 67493 [Q6UWL6-1] 67494 [Q6UWL6-2] 67495 [Q6UWL6-3] 67497 [Q6UWL6-5] |
PTM databases
GlyGeni | Q6UWL6, 3 sites |
iPTMneti | Q6UWL6 |
PhosphoSitePlusi | Q6UWL6 |
SwissPalmi | Q6UWL6 |
Expressioni
Tissue specificityi
Highly expressed in beta-cells of the pancreatic islets.1 Publication
Gene expression databases
Bgeei | ENSG00000126259, Expressed in pancreas and 87 other tissues |
ExpressionAtlasi | Q6UWL6, baseline and differential |
Genevisiblei | Q6UWL6, HS |
Organism-specific databases
HPAi | ENSG00000126259, Tissue enriched (pancreas) |
Interactioni
Subunit structurei
Homodimer.
Interacts with NPHS2/podocin (via the C-terminus).
Interacts with NPHS1 (via the Ig-like domains).
Interacts with FYN.
By similarityBinary interactionsi
Hide detailsQ6UWL6
With | #Exp. | IntAct |
---|---|---|
FHL3 [Q13643] | 3 | EBI-10254473,EBI-741101 |
PSMA3 [P25788] | 3 | EBI-10254473,EBI-348380 |
Isoform 5 [Q6UWL6-5]
With | #Exp. | IntAct |
---|---|---|
FHL3 [Q13643] | 3 | EBI-12794590,EBI-741101 |
GO - Molecular functioni
- cell adhesion molecule binding Source: GO_Central
- identical protein binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 123858, 11 interactors |
IntActi | Q6UWL6, 7 interactors |
STRINGi | 9606.ENSP00000353331 |
Miscellaneous databases
RNActi | Q6UWL6, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 24 – 118 | Ig-like C2-type 1Add BLAST | 95 | |
Domaini | 123 – 222 | Ig-like C2-type 2Add BLAST | 100 | |
Domaini | 227 – 307 | Ig-like C2-type 3Add BLAST | 81 | |
Domaini | 312 – 394 | Ig-like C2-type 4Add BLAST | 83 | |
Domaini | 398 – 501 | Ig-like C2-type 5Add BLAST | 104 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 149 – 151 | Cell attachment siteSequence analysis | 3 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 565 – 568 | Poly-Glu | 4 | |
Compositional biasi | 626 – 702 | Pro-richAdd BLAST | 77 |
Sequence similaritiesi
Belongs to the immunoglobulin superfamily.Curated
Keywords - Domaini
Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3510, Eukaryota |
InParanoidi | Q6UWL6 |
OrthoDBi | 269917at2759 |
PhylomeDBi | Q6UWL6 |
TreeFami | TF327139 |
Family and domain databases
Gene3Di | 2.60.40.10, 5 hits |
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 |
Pfami | View protein in Pfam PF08205, C2-set_2, 1 hit PF07679, I-set, 1 hit |
SMARTi | View protein in SMART SM00409, IG, 5 hits SM00408, IGc2, 3 hits |
SUPFAMi | SSF48726, SSF48726, 5 hits |
PROSITEi | View protein in PROSITE PS50835, IG_LIKE, 5 hits |
s (4+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis 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 sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A0A0MQV3 | A0A0A0MQV3_HUMAN | Kin of IRRE-like protein 2 | KIRREL2 | 633 | Annotation score: | ||
A0A0A0MRC1 | A0A0A0MRC1_HUMAN | Kin of IRRE-like protein 2 | KIRREL2 | 583 | Annotation score: | ||
K7EJS8 | K7EJS8_HUMAN | Kin of IRRE-like protein 2 | KIRREL2 | 673 | Annotation score: | ||
V9GXZ7 | V9GXZ7_HUMAN | Kin of IRRE-like protein 2 | KIRREL2 | 191 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 3 | R → W in AAP72167 (PubMed:12837264).Curated | 1 | |
Sequence conflicti | 155 | T → A in CAB66589 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 202 | F → L in AAP72166 (PubMed:12837264).Curated | 1 | |
Sequence conflicti | 371 | G → D in AAP72166 (PubMed:12837264).Curated | 1 | |
Sequence conflicti | 371 | G → D in AAP72167 (PubMed:12837264).Curated | 1 | |
Sequence conflicti | 389 | A → V in AAP72167 (PubMed:12837264).Curated | 1 | |
Sequence conflicti | 396 | N → D in AAP72167 (PubMed:12837264).Curated | 1 | |
Sequence conflicti | 516 | A → V in AAP72166 (PubMed:12837264).Curated | 1 | |
Sequence conflicti | 516 | A → V in AAP72167 (PubMed:12837264).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_056098 | 19 | R → S. Corresponds to variant dbSNP:rs446014Ensembl. | 1 | |
Natural variantiVAR_056099 | 170 | A → T. Corresponds to variant dbSNP:rs404299Ensembl. | 1 | |
Natural variantiVAR_056100 | 353 | V → M. Corresponds to variant dbSNP:rs35423326Ensembl. | 1 | |
Natural variantiVAR_056101 | 556 | S → N. Corresponds to variant dbSNP:rs35775934Ensembl. | 1 | |
Natural variantiVAR_067450 | 591 | K → E5 PublicationsCorresponds to variant dbSNP:rs382789Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_011780 | 21 – 70 | Missing in isoform 3. 1 PublicationAdd BLAST | 50 | |
Alternative sequenceiVSP_011781 | 37 – 490 | Missing in isoform 5. 2 PublicationsAdd BLAST | 454 | |
Alternative sequenceiVSP_011783 | 504 – 538 | Missing in isoform 5. 2 PublicationsAdd BLAST | 35 | |
Alternative sequenceiVSP_011784 | 611 – 633 | VSLSL…SPLGP → PPASPDSRVTSFQWKSPGIS NLP in isoform 2 and isoform 3. 1 PublicationAdd BLAST | 23 | |
Alternative sequenceiVSP_011785 | 634 – 708 | Missing in isoform 2 and isoform 3. 1 PublicationAdd BLAST | 75 |
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. |
CCDSi | CCDS12479.1 [Q6UWL6-2] CCDS12480.1 [Q6UWL6-3] CCDS12481.1 [Q6UWL6-1] |
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
Ensembli | ENST00000360202; ENSP00000353331; ENSG00000126259 |
GeneIDi | 84063 |
KEGGi | hsa:84063 |
UCSCi | uc002ocb.5, human [Q6UWL6-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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. |
CCDSi | CCDS12479.1 [Q6UWL6-2] CCDS12480.1 [Q6UWL6-3] CCDS12481.1 [Q6UWL6-1] |
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 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 123858, 11 interactors |
IntActi | Q6UWL6, 7 interactors |
STRINGi | 9606.ENSP00000353331 |
PTM databases
GlyGeni | Q6UWL6, 3 sites |
iPTMneti | Q6UWL6 |
PhosphoSitePlusi | Q6UWL6 |
SwissPalmi | Q6UWL6 |
Genetic variation databases
BioMutai | KIRREL2 |
DMDMi | 308153459 |
Proteomic databases
MassIVEi | Q6UWL6 |
PaxDbi | Q6UWL6 |
PeptideAtlasi | Q6UWL6 |
PRIDEi | Q6UWL6 |
ProteomicsDBi | 67493 [Q6UWL6-1] 67494 [Q6UWL6-2] 67495 [Q6UWL6-3] 67497 [Q6UWL6-5] |
Protocols and materials databases
Antibodypediai | 29564, 266 antibodies |
Genome annotation databases
Ensembli | ENST00000360202; ENSP00000353331; ENSG00000126259 |
GeneIDi | 84063 |
KEGGi | hsa:84063 |
UCSCi | uc002ocb.5, human [Q6UWL6-1] |
Organism-specific databases
CTDi | 84063 |
DisGeNETi | 84063 |
GeneCardsi | KIRREL2 |
HGNCi | HGNC:18816, KIRREL2 |
HPAi | ENSG00000126259, Tissue enriched (pancreas) |
MIMi | 607762, gene |
neXtProti | NX_Q6UWL6 |
PharmGKBi | PA38693 |
VEuPathDBi | HostDB:ENSG00000126259.19 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3510, Eukaryota |
InParanoidi | Q6UWL6 |
OrthoDBi | 269917at2759 |
PhylomeDBi | Q6UWL6 |
TreeFami | TF327139 |
Enzyme and pathway databases
PathwayCommonsi | Q6UWL6 |
Reactomei | R-HSA-373753, Nephrin family interactions |
Miscellaneous databases
BioGRID-ORCSi | 84063, 33 hits in 872 CRISPR screens |
ChiTaRSi | KIRREL2, human |
GeneWikii | KIRREL2 |
GenomeRNAii | 84063 |
Pharosi | Q6UWL6, Tbio |
PROi | PR:Q6UWL6 |
RNActi | Q6UWL6, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000126259, Expressed in pancreas and 87 other tissues |
ExpressionAtlasi | Q6UWL6, baseline and differential |
Genevisiblei | Q6UWL6, HS |
Family and domain databases
Gene3Di | 2.60.40.10, 5 hits |
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 |
Pfami | View protein in Pfam PF08205, C2-set_2, 1 hit PF07679, I-set, 1 hit |
SMARTi | View protein in SMART SM00409, IG, 5 hits SM00408, IGc2, 3 hits |
SUPFAMi | SSF48726, SSF48726, 5 hits |
PROSITEi | View protein in PROSITE PS50835, IG_LIKE, 5 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | KIRR2_HUMAN | |
Accessioni | Q6UWL6Primary (citable) accession number: Q6UWL6 Secondary accession number(s): C9JHF1 Q9H0T1 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 25, 2004 |
Last sequence update: | October 5, 2010 | |
Last modified: | February 10, 2021 | |
This is version 152 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Direct protein sequencing, Reference proteomeDocuments
- Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 19
Human chromosome 19: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants