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Protein

Kin of IRRE-like protein 2

Gene

KIRREL2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

May regulate basal insulin secretion.By similarity

GO - Molecular functioni

GO - Biological processi

  • cell adhesion Source: UniProtKB
  • cell-cell adhesion Source: Ensembl
  • negative regulation of protein phosphorylation Source: Ensembl

Enzyme and pathway databases

ReactomeiR-HSA-373753 Nephrin family interactions

Names & Taxonomyi

Protein namesi
Recommended name:
Kin of IRRE-like protein 2
Alternative name(s):
Kin of irregular chiasm-like protein 2
Nephrin-like protein 3
Gene namesi
Name:KIRREL2
Synonyms:NEPH3
ORF Names:UNQ5827/PRO19646
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000126259.19
HGNCiHGNC:18816 KIRREL2
MIMi607762 gene
neXtProtiNX_Q6UWL6

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; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini21 – 510ExtracellularSequence analysisAdd BLAST490
Transmembranei511 – 531HelicalSequence analysisAdd BLAST21
Topological domaini532 – 708CytoplasmicSequence analysisAdd BLAST177

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi84063
PharmGKBiPA38693

Polymorphism and mutation databases

BioMutaiKIRREL2
DMDMi308153459

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 201 PublicationAdd BLAST20
ChainiPRO_000001509621 – 708Kin of IRRE-like protein 2Add BLAST688

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi45 ↔ 103PROSITE-ProRule annotation
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
Modified residuei571PhosphoserineBy similarity1
Modified residuei603PhosphotyrosineBy similarity1
Modified residuei604PhosphotyrosineBy similarity1
Modified residuei661PhosphotyrosineBy similarity1

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

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

PTM databases

iPTMnetiQ6UWL6
PhosphoSitePlusiQ6UWL6
SwissPalmiQ6UWL6

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000126259 Expressed in 66 organ(s), highest expression level in body of pancreas
CleanExiHS_KIRREL2
ExpressionAtlasiQ6UWL6 baseline and differential
GenevisibleiQ6UWL6 HS

Organism-specific databases

HPAiHPA071587
HPA074326

Interactioni

Subunit structurei

Homodimer. Interacts with NPHS2/podocin (via the C-terminus). Interacts with NPHS1 (via the Ig-like domains). Interacts wit FYN.By similarity

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi123858, 11 interactors
IntActiQ6UWL6, 2 interactors
STRINGi9606.ENSP00000353331

Structurei

3D structure databases

ProteinModelPortaliQ6UWL6
SMRiQ6UWL6
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
Motifi149 – 151Cell attachment siteSequence analysis3

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi565 – 568Poly-Glu4
Compositional biasi626 – 702Pro-richAdd BLAST77

Sequence similaritiesi

Belongs to the immunoglobulin superfamily.Curated

Keywords - Domaini

Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3510 Eukaryota
ENOG410XPX0 LUCA
HOVERGENiHBG052260
InParanoidiQ6UWL6
OrthoDBiEOG091G0UW4
PhylomeDBiQ6UWL6
TreeFamiTF327139

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

Sequences (4+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 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 '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
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
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

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:
A0A0A0MRC1A0A0A0MRC1_HUMAN
Kin of IRRE-like protein 2
KIRREL2
583Annotation score:
K7EJS8K7EJS8_HUMAN
Kin of IRRE-like protein 2
KIRREL2
673Annotation score:
V9GXZ7V9GXZ7_HUMAN
Kin of IRRE-like protein 2
KIRREL2
191Annotation score:

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
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
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:
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
UniGeneiHs.145729

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar 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.
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
UniGeneiHs.145729

3D structure databases

ProteinModelPortaliQ6UWL6
SMRiQ6UWL6
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123858, 11 interactors
IntActiQ6UWL6, 2 interactors
STRINGi9606.ENSP00000353331

PTM databases

iPTMnetiQ6UWL6
PhosphoSitePlusiQ6UWL6
SwissPalmiQ6UWL6

Polymorphism and mutation databases

BioMutaiKIRREL2
DMDMi308153459

Proteomic databases

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

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi84063
DisGeNETi84063
EuPathDBiHostDB:ENSG00000126259.19
GeneCardsiKIRREL2
H-InvDBiHIX0015044
HGNCiHGNC:18816 KIRREL2
HPAiHPA071587
HPA074326
MIMi607762 gene
neXtProtiNX_Q6UWL6
PharmGKBiPA38693
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3510 Eukaryota
ENOG410XPX0 LUCA
HOVERGENiHBG052260
InParanoidiQ6UWL6
OrthoDBiEOG091G0UW4
PhylomeDBiQ6UWL6
TreeFamiTF327139

Enzyme and pathway databases

ReactomeiR-HSA-373753 Nephrin family interactions

Miscellaneous databases

ChiTaRSiKIRREL2 human
GeneWikiiKIRREL2
GenomeRNAii84063
PROiPR:Q6UWL6
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000126259 Expressed in 66 organ(s), highest expression level in body of pancreas
CleanExiHS_KIRREL2
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
ProtoNetiSearch...

Entry informationi

Entry nameiKIRR2_HUMAN
AccessioniPrimary (citable) accession number: Q6UWL6
Secondary accession number(s): C9JHF1
, C9JJ76, F1T0I2, Q6P1R1, Q7Z5P1, Q7Z5P2, Q96IQ8, Q9H0T1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 25, 2004
Last sequence update: October 5, 2010
Last modified: September 12, 2018
This is version 139 of the entry and version 2 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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Main funding by: National Institutes of Health

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