Human Gene KIRREL2 (ENST00000360202.10) from GENCODE V44
  Description: Homo sapiens kirre like nephrin family adhesion molecule 2 (KIRREL2), transcript variant 3, mRNA. (from RefSeq NM_199180)
RefSeq Summary (NM_199180): This gene encodes a type I transmembrane protein and member of the immunoglobulin superfamily of cell adhesion molecules. The encoded protein localizes to adherens junctions in pancreatic beta cells and regulates insulin secretion. Autoantibodies against the encoded protein have been detected in serum from patients with type 1 diabetes. This gene may also play a role in glomerular development and decreased expression of this gene has been observed in human glomerular diseases. This gene and the related opposite-strand gene nephrin (GeneID: 527362) are regulated by a bidirectional promoter. [provided by RefSeq, Jul 2016].
Gencode Transcript: ENST00000360202.10
Gencode Gene: ENSG00000126259.20
Transcript (Including UTRs)
   Position: hg38 chr19:35,856,911-35,867,136 Size: 10,226 Total Exon Count: 15 Strand: +
Coding Region
   Position: hg38 chr19:35,857,120-35,866,492 Size: 9,373 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:35,856,911-35,867,136)mRNA (may differ from genome)Protein (708 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: KIRR2_HUMAN
DESCRIPTION: RecName: Full=Kin of IRRE-like protein 2; AltName: Full=Kin of irregular chiasm-like protein 2; AltName: Full=Nephrin-like protein 3; Flags: Precursor;
SUBUNIT: Interacts with NPHS2/podocin (via the C-terminus). Interacts with NPHS1 (via the Ig-like domains) (By similarity).
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein (Potential).
TISSUE SPECIFICITY: Highly expressed in beta-cells of the pancreatic islets.
SIMILARITY: Belongs to the immunoglobulin superfamily.
SIMILARITY: Contains 5 Ig-like C2-type (immunoglobulin-like) domains.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: KIRREL2
Diseases sorted by gene-association score: familial nephrotic syndrome (6)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 19.96 RPKM in Pancreas
Total median expression: 24.48 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -74.80209-0.358 Picture PostScript Text
3' UTR -192.90644-0.300 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR013162 - CD80_C2-set
IPR007110 - Ig-like
IPR013783 - Ig-like_fold
IPR013098 - Ig_I-set
IPR003599 - Ig_sub
IPR003598 - Ig_sub2

Pfam Domains:
PF08205 - CD80-like C2-set immunoglobulin domain
PF07679 - Immunoglobulin I-set domain

ModBase Predicted Comparative 3D Structure on Q6UWL6
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGIRGD  WormBase 
Protein SequenceProtein Sequence  Protein Sequence 
AlignmentAlignment  Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0042802 identical protein binding

Biological Process:
GO:0001933 negative regulation of protein phosphorylation
GO:0007155 cell adhesion
GO:0098609 cell-cell adhesion

Cellular Component:
GO:0005886 plasma membrane
GO:0005911 cell-cell junction
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0036057 slit diaphragm


-  Descriptions from all associated GenBank mRNAs
  BC064925 - Homo sapiens kin of IRRE like 2 (Drosophila), mRNA (cDNA clone MGC:74484 IMAGE:6141879), complete cds.
AK307865 - Homo sapiens cDNA, FLJ97813.
BC007312 - Homo sapiens kin of IRRE like 2 (Drosophila), mRNA (cDNA clone IMAGE:3353436), complete cds.
AY358742 - Homo sapiens clone DNA145841 LRMR5827 (UNQ5827) mRNA, complete cds.
AL136654 - Homo sapiens mRNA; cDNA DKFZp564A1164 (from clone DKFZp564A1164).
AB593116 - Homo sapiens KIRREL2 mRNA for kin of IRRE-like protein 2, complete cds, clone: HP07245-RBd21E09.
JD170623 - Sequence 151647 from Patent EP1572962.
JD485049 - Sequence 466073 from Patent EP1572962.
JD137807 - Sequence 118831 from Patent EP1572962.
AY305301 - Homo sapiens kin of irregular chiasm 2 splice variant A (KIRREL2) mRNA, complete cds; alternatively spliced.
AY305302 - Homo sapiens kin of irregular chiasm 2 splice variant B (KIRREL2) mRNA, complete cds; alternatively spliced.
KJ903376 - Synthetic construct Homo sapiens clone ccsbBroadEn_12770 KIRREL2 gene, encodes complete protein.
JD059088 - Sequence 40112 from Patent EP1572962.
JD045609 - Sequence 26633 from Patent EP1572962.
JD215770 - Sequence 196794 from Patent EP1572962.
JD189374 - Sequence 170398 from Patent EP1572962.
JD403943 - Sequence 384967 from Patent EP1572962.
JD326247 - Sequence 307271 from Patent EP1572962.
JD202989 - Sequence 184013 from Patent EP1572962.
JD470445 - Sequence 451469 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q6UWL6 (Reactome details) participates in the following event(s):

R-HSA-451757 Heterodimerization of nephrin and KIRREL2, KIRREL3
R-HSA-373753 Nephrin family interactions
R-HSA-1500931 Cell-Cell communication

-  Other Names for This Gene
  Alternate Gene Symbols: C9JHF1, C9JJ76, ENST00000360202.1, ENST00000360202.2, ENST00000360202.3, ENST00000360202.4, ENST00000360202.5, ENST00000360202.6, ENST00000360202.7, ENST00000360202.8, ENST00000360202.9, F1T0I2, KIRR2_HUMAN, NEPH3, NM_199180, Q6P1R1, Q6UWL6, Q7Z5P1, Q7Z5P2, Q96IQ8, Q9H0T1, uc002ocb.1, uc002ocb.2, uc002ocb.3, uc002ocb.4, uc002ocb.5, uc002ocb.6, UNQ5827/PRO19646
UCSC ID: ENST00000360202.10
RefSeq Accession: NM_199180
Protein: Q6UWL6 (aka KIRR2_HUMAN or KIR2_HUMAN)
CCDS: CCDS12481.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.