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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-Experimental evidence at protein leveli

Functioni

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

ReactomeiR-HSA-373753. Nephrin 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

HGNCiHGNC:18816. KIRREL2.

Subcellular locationi

Topology

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

GO - Cellular componenti

  • integral component of membrane Source: UniProtKB
  • plasma membrane Source: Reactome
  • slit diaphragm Source: Ensembl
Complete GO annotation...

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...)Sequence analysis1
Disulfide bondi146 ↔ 204PROSITE-ProRule annotation
Disulfide bondi248 ↔ 291PROSITE-ProRule annotation
Glycosylationi301N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi333 ↔ 375PROSITE-ProRule annotation
Disulfide bondi419 ↔ 485PROSITE-ProRule annotation
Glycosylationi484N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ6UWL6.
PRIDEiQ6UWL6.

PTM databases

iPTMnetiQ6UWL6.
PhosphoSitePlusiQ6UWL6.
SwissPalmiQ6UWL6.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000126259.
CleanExiHS_KIRREL2.
ExpressionAtlasiQ6UWL6. baseline and differential.
GenevisibleiQ6UWL6. HS.

Interactioni

Subunit structurei

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

Binary interactionsi

WithEntry#Exp.IntActNotes
FHL3Q136433EBI-10254473,EBI-741101
PSMA3P257883EBI-10254473,EBI-348380

Protein-protein interaction databases

BioGridi123858. 10 interactors.
IntActiQ6UWL6. 2 interactors.
MINTiMINT-4711887.
STRINGi9606.ENSP00000353331.

Structurei

3D structure databases

ProteinModelPortaliQ6UWL6.
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.
InterProiIPR013162. CD80_C2-set.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
[Graphical view]
PfamiPF08205. C2-set_2. 1 hit.
PF07679. I-set. 1 hit.
[Graphical view]
SMARTiSM00409. IG. 5 hits.
SM00408. IGc2. 3 hits.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 5 hits.
PROSITEiPS50835. IG_LIKE. 5 hits.
[Graphical view]

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

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

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 rs446014dbSNPEnsembl.1
Natural variantiVAR_056099170A → T.Corresponds to variant rs404299dbSNPEnsembl.1
Natural variantiVAR_056100353V → M.Corresponds to variant rs35423326dbSNPEnsembl.1
Natural variantiVAR_056101556S → N.Corresponds to variant rs35775934dbSNPEnsembl.1
Natural variantiVAR_067450591K → E.5 PublicationsCorresponds to variant rs382789dbSNPEnsembl.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

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.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123858. 10 interactors.
IntActiQ6UWL6. 2 interactors.
MINTiMINT-4711887.
STRINGi9606.ENSP00000353331.

PTM databases

iPTMnetiQ6UWL6.
PhosphoSitePlusiQ6UWL6.
SwissPalmiQ6UWL6.

Polymorphism and mutation databases

BioMutaiKIRREL2.
DMDMi308153459.

Proteomic databases

PaxDbiQ6UWL6.
PRIDEiQ6UWL6.

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.
GeneCardsiKIRREL2.
H-InvDBHIX0015044.
HGNCiHGNC:18816. KIRREL2.
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 interactions.

Miscellaneous databases

GeneWikiiKIRREL2.
GenomeRNAii84063.
PROiQ6UWL6.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000126259.
CleanExiHS_KIRREL2.
ExpressionAtlasiQ6UWL6. baseline and differential.
GenevisibleiQ6UWL6. HS.

Family and domain databases

Gene3Di2.60.40.10. 5 hits.
InterProiIPR013162. CD80_C2-set.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
[Graphical view]
PfamiPF08205. C2-set_2. 1 hit.
PF07679. I-set. 1 hit.
[Graphical view]
SMARTiSM00409. IG. 5 hits.
SM00408. IGc2. 3 hits.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 5 hits.
PROSITEiPS50835. IG_LIKE. 5 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiKIRR2_HUMAN
AccessioniPrimary (citable) accession number: Q6UWL6
Secondary accession number(s): C9JHF1
, C9JJ76, F1T0I2, Q6P1R1, Q7Z5P1, Q7Z5P2, Q96IQ8, Q9H0T1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 25, 2004
Last sequence update: October 5, 2010
Last modified: November 30, 2016
This is version 127 of the entry and version 2 of the sequence. [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 chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.