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Aliases for KIRREL2 Gene

Aliases for KIRREL2 Gene

  • Kirre Like Nephrin Family Adhesion Molecule 2 2 3 5
  • Kin Of Irregular Chiasm-Like Protein 2 3 4
  • Nephrin-Like Protein 3 3 4
  • NEPH3 3 4
  • Kin Of IRRE Like 2 (Drosophila) 2
  • Kin Of IRRE-Like Protein 2 3
  • Nephrin-Like Gene 1 3
  • Kin Of IRRE Like 2 3
  • FILTRIN 3
  • NLG1 3

External Ids for KIRREL2 Gene

Previous GeneCards Identifiers for KIRREL2 Gene

  • GC00U991236
  • GC19P041023
  • GC19P041039
  • GC19P041038
  • GC19P036347
  • GC19P032853
  • GC19P035855
  • GC19P035856
  • GC19P036016
  • GC19P036178
  • GC19P036256
  • GC19P036423
  • GC19P036584

Summaries for KIRREL2 Gene

Entrez Gene Summary for KIRREL2 Gene

  • 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]

GeneCards Summary for KIRREL2 Gene

KIRREL2 (Kirre Like Nephrin Family Adhesion Molecule 2) is a Protein Coding gene. Diseases associated with KIRREL2 include Familial Nephrotic Syndrome and Focal Segmental Glomerulosclerosis. Among its related pathways are Nephrin interactions and Cell junction organization. An important paralog of this gene is KIRREL1.

UniProtKB/Swiss-Prot for KIRREL2 Gene

  • May regulate basal insulin secretion.

Gene Wiki entry for KIRREL2 Gene

Additional gene information for KIRREL2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIRREL2 Gene

Genomics for KIRREL2 Gene

GeneHancer (GH) Regulatory Elements for KIRREL2 Gene

Promoters and enhancers for KIRREL2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J035855 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 650.7 +4.8 4800 2.1 HDAC1 ZNF473 ARNT ZSCAN4 SIN3A ZNF335 TCF12 GLIS2 GATA2 EGR1 KIRREL2 ZNF567 ZNF260 ZNF345 ZNF790 ZNF146 ZNF850 TMEM147-AS1 ZNF565 ZFP14
GH19J035851 Promoter/Enhancer 1.1 EPDnew ENCODE 650.7 -0.3 -281 0.2 CTCF ATF1 ZBTB21 POLR2A ZBTB48 ZNF629 GABPB1 ZNF143 CREB1 ZBTB33 KIRREL2 NPHS1 PRODH2
GH19J035912 Enhancer 1.3 FANTOM5 Ensembl ENCODE 11.2 +62.2 62166 2.4 HDGF PKNOX1 EBF1 BATF ZNF121 ZNF366 ATF7 FOS IKZF2 RUNX3 APLP1 TYROBP LRFN3 NPHS1 KIRREL2 NFKBID SDHAF1 HCST FFAR2 IGFLR1
GH19J035281 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 8.7 -568.9 -568863 2.1 FOXA2 PKNOX1 RB1 ARID4B DMAP1 YY1 ZNF121 EGR1 CREM RXRA GC19P036871 HAMP GC19M039116 CD22 TMEM147-AS1 ENSG00000268947 ENSG00000267049 KRTDAP DMKN FAM187B
GH19J035910 Enhancer 1.1 FANTOM5 Ensembl ENCODE 11.1 +60.0 59966 1.6 CTCF NFIB RAD21 ZNF121 ZNF335 ZNF366 ZBTB48 SCRT2 ZNF143 PRDM10 LRFN3 ZNF345 ZNF567 RBM42 PROSER3 ZNF850 ZNF790-AS1 ZNF461 ZNF529-AS1 ZNF790
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KIRREL2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KIRREL2 gene promoter:
  • p53
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • En-1
  • c-Myb

Genomic Locations for KIRREL2 Gene

Genomic Locations for KIRREL2 Gene
chr19:35,851,635-35,867,146
(GRCh38/hg38)
Size:
15,512 bases
Orientation:
Plus strand
chr19:36,346,763-36,358,048
(GRCh37/hg19)
Size:
11,286 bases
Orientation:
Plus strand

Genomic View for KIRREL2 Gene

Genes around KIRREL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIRREL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIRREL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIRREL2 Gene

Proteins for KIRREL2 Gene

  • Protein details for KIRREL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6UWL6-KIRR2_HUMAN
    Recommended name:
    Kin of IRRE-like protein 2
    Protein Accession:
    Q6UWL6
    Secondary Accessions:
    • C9JHF1
    • C9JJ76
    • F1T0I2
    • Q6P1R1
    • Q7Z5P1
    • Q7Z5P2
    • Q96IQ8
    • Q9H0T1

    Protein attributes for KIRREL2 Gene

    Size:
    708 amino acids
    Molecular mass:
    75092 Da
    Quaternary structure:
    • Homodimer. Interacts with NPHS2/podocin (via the C-terminus). Interacts with NPHS1 (via the Ig-like domains). Interacts wit FYN.
    SequenceCaution:
    • Sequence=AAH64925.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};

    Alternative splice isoforms for KIRREL2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KIRREL2 Gene

Post-translational modifications for KIRREL2 Gene

  • N-glycosylated.
  • 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.
  • Glycosylation at Asn484, isoforms=2, 3301, and isoforms=2, 3143
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for KIRREL2 (Kirrel2/NEPH3)
  • Abcam antibodies for KIRREL2

No data available for DME Specific Peptides for KIRREL2 Gene

Domains & Families for KIRREL2 Gene

Gene Families for KIRREL2 Gene

Suggested Antigen Peptide Sequences for KIRREL2 Gene

Graphical View of Domain Structure for InterPro Entry

Q6UWL6

UniProtKB/Swiss-Prot:

KIRR2_HUMAN :
  • Belongs to the immunoglobulin superfamily.
Family:
  • Belongs to the immunoglobulin superfamily.
genes like me logo Genes that share domains with KIRREL2: view

Function for KIRREL2 Gene

Molecular function for KIRREL2 Gene

UniProtKB/Swiss-Prot Function:
May regulate basal insulin secretion.

Gene Ontology (GO) - Molecular Function for KIRREL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0042802 identical protein binding IEA,ISS --
genes like me logo Genes that share ontologies with KIRREL2: view
genes like me logo Genes that share phenotypes with KIRREL2: view

Animal Models for KIRREL2 Gene

MGI Knock Outs for KIRREL2:

Animal Model Products

  • Taconic Biosciences Mouse Models for KIRREL2

miRNA for KIRREL2 Gene

miRTarBase miRNAs that target KIRREL2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KIRREL2 Gene

Localization for KIRREL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIRREL2 Gene

Cell membrane; Single-pass type I membrane protein. Note=Localized along the sites of the cell contacts. Colocalizes with E-Cadherin and beta-catenin. {ECO:0000250 UniProtKB:Q7TSU7}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KIRREL2 gene
Compartment Confidence
plasma membrane 5
extracellular 2
mitochondrion 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Microtubule organizing center (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KIRREL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005911 cell-cell junction IEA,ISS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane NAS,IEA 12837264
GO:0036057 slit diaphragm IEA --
genes like me logo Genes that share ontologies with KIRREL2: view

Pathways & Interactions for KIRREL2 Gene

genes like me logo Genes that share pathways with KIRREL2: view

Pathways by source for KIRREL2 Gene

1 BioSystems pathway for KIRREL2 Gene
2 Reactome pathways for KIRREL2 Gene

Gene Ontology (GO) - Biological Process for KIRREL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001933 negative regulation of protein phosphorylation IEA --
GO:0007155 cell adhesion NAS 12837264
GO:0098609 cell-cell adhesion IEA --
genes like me logo Genes that share ontologies with KIRREL2: view

No data available for SIGNOR curated interactions for KIRREL2 Gene

Drugs & Compounds for KIRREL2 Gene

No Compound Related Data Available

Transcripts for KIRREL2 Gene

Unigene Clusters for KIRREL2 Gene

Kin of IRRE like 2 (Drosophila):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KIRREL2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b
SP1:
SP2:
SP3:
SP4: -

Relevant External Links for KIRREL2 Gene

GeneLoc Exon Structure for
KIRREL2
ECgene alternative splicing isoforms for
KIRREL2

Expression for KIRREL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KIRREL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KIRREL2 Gene

This gene is overexpressed in Pancreas (x44.8).

Protein differential expression in normal tissues from HIPED for KIRREL2 Gene

This gene is overexpressed in Adipocyte (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KIRREL2 Gene



Protein tissue co-expression partners for KIRREL2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KIRREL2 Gene:

KIRREL2

SOURCE GeneReport for Unigene cluster for KIRREL2 Gene:

Hs.145729

mRNA Expression by UniProt/SwissProt for KIRREL2 Gene:

Q6UWL6-KIRR2_HUMAN
Tissue specificity: Highly expressed in beta-cells of the pancreatic islets.

Evidence on tissue expression from TISSUES for KIRREL2 Gene

  • Nervous system(4.4)
  • Eye(4.1)
genes like me logo Genes that share expression patterns with KIRREL2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for KIRREL2 Gene

Orthologs for KIRREL2 Gene

This gene was present in the common ancestor of animals.

Orthologs for KIRREL2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KIRREL2 34 33
  • 99.23 (n)
OneToOne
dog
(Canis familiaris)
Mammalia KIRREL2 34 33
  • 88.68 (n)
OneToOne
cow
(Bos Taurus)
Mammalia KIRREL2 34 33
  • 87.52 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kirrel2 33
  • 84.05 (n)
mouse
(Mus musculus)
Mammalia Kirrel2 16 34 33
  • 84 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 75 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia KIRREL2 34
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 39 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii kirrel3l 34
  • 37 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta rst 34
  • 20 (a)
ManyToMany
kirre 34
  • 18 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea syg-1 34
  • 22 (a)
OneToMany
Species where no ortholog for KIRREL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for KIRREL2 Gene

ENSEMBL:
Gene Tree for KIRREL2 (if available)
TreeFam:
Gene Tree for KIRREL2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KIRREL2: view image

Paralogs for KIRREL2 Gene

Paralogs for KIRREL2 Gene

(2) SIMAP similar genes for KIRREL2 Gene using alignment to 3 proteins:

  • KIRR2_HUMAN
  • K7EJS8_HUMAN
  • V9GXZ7_HUMAN
genes like me logo Genes that share paralogs with KIRREL2: view

Variants for KIRREL2 Gene

Sequence variations from dbSNP and Humsavar for KIRREL2 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1054950770 likely-pathogenic, Finnish congenital nephrotic syndrome 35,851,260(+) A/G upstream_transcript_variant
rs1057516942 likely-pathogenic, Finnish congenital nephrotic syndrome 35,851,557(+) A/ upstream_transcript_variant
rs1057517275 likely-pathogenic, Finnish congenital nephrotic syndrome 35,850,377(+) CC/C upstream_transcript_variant
rs1060499706 uncertain-significance, Finnish congenital nephrotic syndrome 35,851,797(+) A/G genic_upstream_transcript_variant, intron_variant
rs114385015 uncertain-significance, Finnish congenital nephrotic syndrome 35,851,580(+) G/A upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for KIRREL2 Gene

Variant ID Type Subtype PubMed ID
dgv51n68 CNV loss 17160897
nsv953286 CNV deletion 24416366

Variation tolerance for KIRREL2 Gene

Residual Variation Intolerance Score: 93.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.52; 85.95% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KIRREL2 Gene

Human Gene Mutation Database (HGMD)
KIRREL2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KIRREL2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIRREL2 Gene

Disorders for KIRREL2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for KIRREL2 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
familial nephrotic syndrome
  • congenital nephrotic syndrome
focal segmental glomerulosclerosis
  • fgs
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for KIRREL2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with KIRREL2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KIRREL2 Gene

Publications for KIRREL2 Gene

  1. Kirrel2, a novel immunoglobulin superfamily gene expressed primarily in beta cells of the pancreatic islets. (PMID: 12837264) Sun C … Carulli JP (Genomics 2003) 2 3 4 22 58
  2. Filtrin is a novel member of nephrin-like proteins. (PMID: 12504092) Ihalmo P … Holthöfer H (Biochemical and biophysical research communications 2003) 2 3 22 58
  3. Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method. (PMID: 21697133) Oshikawa M … Kato S (Investigative ophthalmology & visual science 2011) 3 4 58
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
  5. Regulation of Neph3 gene in podocytes--key roles of transcription factors NF-kappaB and Sp1. (PMID: 19703278) Ristola M … Holthöfer H (BMC molecular biology 2009) 3 22 58

Products for KIRREL2 Gene

Sources for KIRREL2 Gene

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