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Aliases for KIRREL2 Gene

Aliases for KIRREL2 Gene

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

External Ids for KIRREL2 Gene

Previous GeneCards Identifiers for KIRREL2 Gene

  • GC00U991236
  • GC19P041023
  • GC19P041039
  • GC19P041038
  • GC19P036347
  • GC19P032853
  • GC19P035855

Summaries for KIRREL2 Gene

GeneCards Summary for KIRREL2 Gene

KIRREL2 (Kin Of IRRE Like 2 (Drosophila)) is a Protein Coding gene. Among its related pathways are Cell junction organization and Nephrin interactions. An important paralog of this gene is KIRREL3.

Gene Wiki entry for KIRREL2 Gene

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIRREL2 Gene

Genomics for KIRREL2 Gene

Regulatory Elements for KIRREL2 Gene

Enhancers for KIRREL2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around KIRREL2 on UCSC Golden Path with GeneCards custom track

Genomic Location for KIRREL2 Gene

Chromosome:
19
Start:
35,851,635 bp from pter
End:
35,867,146 bp from pter
Size:
15,512 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:
    • Interacts with NPHS2/podocin (via the C-terminus). Interacts with NPHS1 (via the Ig-like domains) (By similarity).
    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

Proteomics data for KIRREL2 Gene at MOPED

Post-translational modifications for KIRREL2 Gene

  • Glycosylation at Asn 143, Asn 301, and Asn 484
  • Modification sites at PhosphoSitePlus

Other Protein References for KIRREL2 Gene

Antibody Products

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

No data available for DME Specific Peptides for KIRREL2 Gene

Domains & 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 :
  • Contains 5 Ig-like C2-type (immunoglobulin-like) domains.
  • Belongs to the immunoglobulin superfamily.
Domain:
  • Contains 5 Ig-like C2-type (immunoglobulin-like) domains.
Family:
  • Belongs to the immunoglobulin superfamily.
genes like me logo Genes that share domains with KIRREL2: view

Function for KIRREL2 Gene

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

Animal Model Products

  • Taconic Biosciences Mouse Models for KIRREL2

CRISPR Products

miRNA for KIRREL2 Gene

miRTarBase miRNAs that target KIRREL2

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , 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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KIRREL2 Gene COMPARTMENTS Subcellular localization image for KIRREL2 gene
Compartment Confidence
plasma membrane 5
extracellular 2
golgi apparatus 1
lysosome 1
mitochondrion 1
vacuole 1

Gene Ontology (GO) - Cellular Components for KIRREL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
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

2 Reactome pathways for KIRREL2 Gene

Gene Ontology (GO) - Biological Process for KIRREL2 Gene

None

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:

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 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, PaxDb, and MOPED for KIRREL2 Gene



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.
genes like me logo Genes that share expression patterns with KIRREL2: view

Protein tissue co-expression partners for KIRREL2 Gene

- Elite partner

Primer Products

Orthologs for KIRREL2 Gene

This gene was present in the common ancestor of animals.

Orthologs for KIRREL2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KIRREL2 35
  • 87.52 (n)
  • 88.71 (a)
KIRREL2 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KIRREL2 35
  • 88.68 (n)
  • 89.47 (a)
KIRREL2 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kirrel2 35
  • 84 (n)
  • 84.86 (a)
Kirrel2 16
Kirrel2 36
  • 85 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KIRREL2 35
  • 99.23 (n)
  • 98.85 (a)
KIRREL2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kirrel2 35
  • 84.05 (n)
  • 83.71 (a)
oppossum
(Monodelphis domestica)
Mammalia KIRREL2 36
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 75 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 39 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii kirrel3l 36
  • 37 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta kirre 36
  • 18 (a)
ManyToMany
rst 36
  • 20 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea syg-1 36
  • 22 (a)
OneToMany
Species with no ortholog for KIRREL2:
  • 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)

Paralogs for KIRREL2 Gene

Paralogs for KIRREL2 Gene

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

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 Sequence Context AA Info Type
rs446014 - 35,857,176(+) GGGAG(A/C)GCAGG reference, missense
rs404299 - 35,858,850(+) ATGGA(A/G)CCACC reference, missense
rs35423326 - 35,861,122(-) CAGCA(C/T)CTGCG reference, missense
rs35775934 - 35,862,978(-) CGTCG(C/T)TGCTG reference, missense
rs382789 - 35,864,693(+) AGGAG(A/C/G)AAGGG reference, missense

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

Variant ID Type Subtype PubMed ID
nsv911638 CNV Loss 21882294
dgv51n68 CNV Loss 17160897
nsv911639 CNV Loss 21882294
nsv911640 CNV Loss 21882294

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for KIRREL2 Gene

Disorders for KIRREL2 Gene

Relevant External Links for KIRREL2

Genetic Association Database (GAD)
KIRREL2
Human Genome Epidemiology (HuGE) Navigator
KIRREL2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KIRREL2

No disorders were found for KIRREL2 Gene.

No data available for MalaCards , 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 J.P. (Genomics 2003) 2 3 4 23 67
  2. Filtrin is a novel member of nephrin-like proteins. (PMID: 12504092) Ihalmo P. … HolthAPfer H. (Biochem. Biophys. Res. Commun. 2003) 2 3 23
  3. Regulation of Neph3 gene in podocytes--key roles of transcription factors NF-kappaB and Sp1. (PMID: 19703278) Ristola M. … HolthAPfer H. (BMC Mol. Biol. 2009) 3 23
  4. Densin and filtrin in the pancreas and in the kidney, targets for humoral autoimmunity in patients with type 1 diabetes. (PMID: 16741999) Rinta-Valkama J. … HolthAPfer H. (Diabetes Metab. Res. Rev. 2007) 3 23
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for KIRREL2 Gene

Sources for KIRREL2 Gene

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