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Aliases for KIRREL3 Gene

Aliases for KIRREL3 Gene

  • Kin Of IRRE Like 3 (Drosophila) 2 3
  • NEPH2 3 4 6
  • Kin Of Irregular Chiasm-Like Protein 3 3 4
  • Nephrin-Like Protein 2 3 4
  • KIAA1867 4 6
  • KIRRE 3 6
  • MRD4 3 6
  • Kin Of IRRE-Like Protein 3 3
  • Nephrin-Like 2 3
  • PRO4502 3

External Ids for KIRREL3 Gene

Previous GeneCards Identifiers for KIRREL3 Gene

  • GC11M126326
  • GC11M125832
  • GC11M125798
  • GC11M122238
  • GC11M126293

Summaries for KIRREL3 Gene

Entrez Gene Summary for KIRREL3 Gene

  • The protein encoded by this gene is a member of the nephrin-like protein family. These proteins are expressed in fetal and adult brain, and also in podocytes of kidney glomeruli. The cytoplasmic domains of these proteins interact with the C-terminus of podocin, also expressed in the podocytes, cells involved in ensuring size- and charge-selective ultrafiltration. Mutations in this gene are associated with mental retardation autosomal dominant type 4 (MRD4). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

GeneCards Summary for KIRREL3 Gene

KIRREL3 (Kin Of IRRE Like 3 (Drosophila)) is a Protein Coding gene. Diseases associated with KIRREL3 include autosomal dominant non-syndromic intellectual disability. Among its related pathways are Cell junction organization and Nephrin interactions. An important paralog of this gene is KIRREL.

UniProtKB/Swiss-Prot for KIRREL3 Gene

  • Could be involved in the hematopoietic supportive capacity of stroma cells.

Gene Wiki entry for KIRREL3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIRREL3 Gene

Genomics for KIRREL3 Gene

Regulatory Elements for KIRREL3 Gene

Genomic Location for KIRREL3 Gene

Start:
126,423,359 bp from pter
End:
127,003,460 bp from pter
Size:
580,102 bases
Orientation:
Minus strand

Genomic View for KIRREL3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KIRREL3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIRREL3 Gene

Proteins for KIRREL3 Gene

  • Protein details for KIRREL3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IZU9-KIRR3_HUMAN
    Recommended name:
    Kin of IRRE-like protein 3
    Protein Accession:
    Q8IZU9
    Secondary Accessions:
    • Q3MIJ7
    • Q6UWJ9
    • Q6UWL5
    • Q96JG0

    Protein attributes for KIRREL3 Gene

    Size:
    778 amino acids
    Molecular mass:
    85255 Da
    Quaternary structure:
    • Interacts with the C-terminus of NPHS2/podocin. Interacts with CASK.
    SequenceCaution:
    • Sequence=AAQ89120.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB47496.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for KIRREL3 Gene

    Alternative splice isoforms for KIRREL3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KIRREL3 Gene

Proteomics data for KIRREL3 Gene at MOPED

Post-translational modifications for KIRREL3 Gene

  • Glycosylation at Asn167, Asn253, Asn324, and Asn498
  • Modification sites at PhosphoSitePlus

Other Protein References for KIRREL3 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for KIRREL3 (Kirrel3/NEPH2)

No data available for DME Specific Peptides for KIRREL3 Gene

Domains for KIRREL3 Gene

Gene Families for KIRREL3 Gene

HGNC:
  • C2SET :Immunoglobulin superfamily / C2-set domain containing
  • IGD :Immunoglobulin superfamily / Immunoglobulin-like domain containing
  • ISET :Immunoglobulin superfamily / I-set domain containing

Suggested Antigen Peptide Sequences for KIRREL3 Gene

Graphical View of Domain Structure for InterPro Entry

Q8IZU9

UniProtKB/Swiss-Prot:

KIRR3_HUMAN :
  • Q8IZU9
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 KIRREL3: view

Function for KIRREL3 Gene

Molecular function for KIRREL3 Gene

UniProtKB/Swiss-Prot Function: Could be involved in the hematopoietic supportive capacity of stroma cells.

Gene Ontology (GO) - Molecular Function for KIRREL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12424224
genes like me logo Genes that share ontologies with KIRREL3: view
genes like me logo Genes that share phenotypes with KIRREL3: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for KIRREL3 Gene

Localization for KIRREL3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIRREL3 Gene

Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KIRREL3 Gene COMPARTMENTS Subcellular localization image for KIRREL3 gene
Compartment Confidence
plasma membrane 5
extracellular 4
mitochondrion 1

Gene Ontology (GO) - Cellular Components for KIRREL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region ISS --
GO:0005886 plasma membrane TAS --
GO:0016021 integral component of membrane ISS --
GO:0030424 axon IEA --
GO:0043198 dendritic shaft IEA --
genes like me logo Genes that share ontologies with KIRREL3: view

Pathways for KIRREL3 Gene

genes like me logo Genes that share pathways with KIRREL3: view

Pathways by source for KIRREL3 Gene

2 Reactome pathways for KIRREL3 Gene

Gene Ontology (GO) - Biological Process for KIRREL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001764 neuron migration IEA --
GO:0002121 inter-male aggressive behavior IEA --
GO:0021740 principal sensory nucleus of trigeminal nerve development IEA --
GO:0030097 hemopoiesis ISS --
GO:0048812 neuron projection morphogenesis IEA --
genes like me logo Genes that share ontologies with KIRREL3: view

Transcripts for KIRREL3 Gene

Unigene Clusters for KIRREL3 Gene

Kin of IRRE like 3 (Drosophila):
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KIRREL3

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for KIRREL3

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KIRREL3 Gene

ExUns: 1 ^ 2a · 2b
SP1:
SP2:

Relevant External Links for KIRREL3 Gene

GeneLoc Exon Structure for
KIRREL3
ECgene alternative splicing isoforms for
KIRREL3

Expression for KIRREL3 Gene

mRNA expression in normal human tissues for KIRREL3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KIRREL3 Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (6.7), Brain - Putamen (basal ganglia) (5.0), Brain - Caudate (basal ganglia) (4.9), and Brain - Cortex (4.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for KIRREL3 Gene

SOURCE GeneReport for Unigene cluster for KIRREL3 Gene Hs.376015

mRNA Expression by UniProt/SwissProt for KIRREL3 Gene

Q8IZU9-KIRR3_HUMAN
Tissue specificity: Expressed in fetal and adult brain. Also expressed in kidney, specifically in podocytes of kidney glomeruli.
genes like me logo Genes that share expressions with KIRREL3: view

In Situ Assay Products

Orthologs for KIRREL3 Gene

This gene was present in the common ancestor of animals.

Orthologs for KIRREL3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KIRREL3 35
  • 99.55 (n)
  • 99.77 (a)
KIRREL3 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KIRREL3 35
  • 91.04 (n)
  • 97.84 (a)
KIRREL3 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KIRREL3 35
  • 92.63 (n)
  • 98.59 (a)
KIRREL3 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kirrel3 35
  • 90.36 (n)
  • 97.94 (a)
Kirrel3 16
Kirrel3 36
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KIRREL3 36
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 86 (a)
OneToMany
-- 36
  • 83 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Kirrel3 35
  • 90.43 (n)
  • 97.91 (a)
chicken
(Gallus gallus)
Aves KIRREL3 35
  • 83.42 (n)
  • 90.87 (a)
KIRREL3 36
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KIRREL3 36
  • 81 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii CABZ01073963.1 36
  • 82 (a)
OneToMany
KIRREL3 (1 of 3) 36
  • 82 (a)
OneToMany
kirrel3a 36
  • 73 (a)
OneToMany
LOC571887 35
  • 73.88 (n)
  • 78.21 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG12484 36
  • 9 (a)
ManyToMany
CG12950 36
  • 12 (a)
ManyToMany
CG14372 36
  • 13 (a)
ManyToMany
CG34113 36
  • 8 (a)
ManyToMany
CG34114 36
  • 12 (a)
ManyToMany
CG34371 36
  • 10 (a)
ManyToMany
CG42313 36
  • 11 (a)
ManyToMany
CG43462 36
  • 12 (a)
ManyToMany
ed 36
  • 10 (a)
ManyToMany
fred 36
  • 11 (a)
ManyToMany
kirre 36
  • 19 (a)
ManyToMany
nrm 36
  • 6 (a)
ManyToMany
rst 36
  • 21 (a)
ManyToMany
side 36
  • 12 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea syg-1 36
  • 22 (a)
OneToMany
Species with no ortholog for KIRREL3:
  • 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)
  • 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 KIRREL3 Gene

ENSEMBL:
Gene Tree for KIRREL3 (if available)
TreeFam:
Gene Tree for KIRREL3 (if available)

Paralogs for KIRREL3 Gene

Paralogs for KIRREL3 Gene

Selected SIMAP similar genes for KIRREL3 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with KIRREL3: view

Variants for KIRREL3 Gene

Sequence variations from dbSNP and Humsavar for KIRREL3 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs1874 -- 126,774,308(-) GAGTT(C/T)TTTCC intron-variant
rs2697 -- 126,423,556(+) GATAT(A/T)CTTCC utr-variant-3-prime
rs471302 -- 126,602,094(-) AAGGA(A/G)GGGGC intron-variant
rs474130 -- 126,601,749(-) ATAGG(C/T)GTCCA intron-variant
rs474504 -- 126,997,428(-) CAGGC(C/G)TGGCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KIRREL3 Gene

Variant ID Type Subtype PubMed ID
nsv898442 CNV Gain 21882294
esv2661931 CNV Deletion 23128226
esv275069 CNV Loss 21479260
esv2669150 CNV Deletion 23128226
esv9231 CNV Gain 19470904
nsv898443 CNV Gain 21882294
nsv898444 CNV Gain 21882294
esv2526292 CNV Insertion 19546169
nsv523864 CNV Gain 19592680
nsv524109 CNV Loss 19592680
esv988792 CNV Deletion 20482838
esv2678979 CNV Deletion 23128226
esv2617561 CNV Insertion 19546169
esv2592221 CNV Deletion 19546169
nsv538 CNV Insertion 18451855
esv2046864 CNV Deletion 18987734
esv27573 CNV Loss 19812545
esv2745216 CNV Deletion 23290073
esv2745217 CNV Deletion 23290073
dgv173e201 CNV Deletion 23290073
nsv539 CNV Insertion 18451855

Relevant External Links for KIRREL3 Gene

HapMap Linkage Disequilibrium report
KIRREL3
Human Gene Mutation Database (HGMD)
KIRREL3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIRREL3 Gene

Disorders for KIRREL3 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for KIRREL3 Gene including...

Search for KIRREL3 Gene in MalaCards »

(1) OMIM Diseases for KIRREL3 Gene (607761)

UniProtKB/Swiss-Prot

KIRR3_HUMAN
  • Note=A chromosomal aberration involving KIRREL3 and CDH15 is found in a patient with severe mental retardation and dysmorphic facial features. Translocation t(11;16)(q24.2;q24).
  • Mental retardation, autosomal dominant 4 (MRD4) [MIM:612581]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269 PubMed:19012874}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KIRREL3

Genetic Association Database (GAD)
KIRREL3
Human Genome Epidemiology (HuGE) Navigator
KIRREL3
genes like me logo Genes that share disorders with KIRREL3: view

Publications for KIRREL3 Gene

  1. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11347906) Nagase T. … Ohara O. (DNA Res. 2001) 2 3 4
  2. NEPH1 defines a novel family of podocin interacting proteins. (PMID: 12424224) Sellin L. … Walz G. (FASEB J. 2003) 2 3 4
  3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. A genome-wide association study identifies protein quantitative trait loci (pQTLs). (PMID: 18464913) Melzer D. … Ferrucci L. (PLoS Genet. 2008) 3 48

Products for KIRREL3 Gene

Sources for KIRREL3 Gene

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