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Aliases for KIRREL3 Gene

Aliases for KIRREL3 Gene

  • Kin Of IRRE Like 3 (Drosophila) 2 3 5
  • Kin Of Irregular Chiasm-Like Protein 3 3 4
  • Nephrin-Like Protein 2 3 4
  • NEPH2 3 4
  • Nephrin-Like 2 3
  • KIAA1867 4
  • PRO4502 3
  • KIRRE 3
  • MRD4 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 and familial nephrotic syndrome. 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

  • Synaptic adhesion molecule required for the formation of target-specific synapses. Required for formation of target-specific synapses at hippocampal mossy fiber synapses. Required for formation of mossy fiber filopodia, the synaptic structures connecting dentate granule and GABA neurons. Probably acts as a homophilic adhesion molecule that promotes trans-cellular interactions and stabilize mossy fiber filipodia contact and subsequent synapse formation. Required for the coalescence of vomeronasal sensory neuron axons. May be involved in the hematopoietic supportive capacity of stroma cells; the secreted extracellular domain is directly responsible for supporting hematopoietic stem 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

Promoters for KIRREL3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KIRREL3 on UCSC Golden Path with GeneCards custom track

Genomic Location for KIRREL3 Gene

Chromosome:
11
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

Genes around KIRREL3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIRREL3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    • Homodimer; mediates homophilic interactions to promote cell adhesion. Interacts with NPHS1; forms heterodimers with NPHS1 (By similarity). Interacts with NPHS2/podocin (via the C-terminus) (PubMed:12424224). Interacts with CASK (PubMed:19012874). Interacts (via extracellular region) with MAP1B (PubMed:25902260). Interacts (via extracellular region) with MYO16 (PubMed:25902260). Interacts (via intracellular region) with ATP1B1 (PubMed:25902260). Interacts (via intracellular region) with SHMT2 (PubMed:25902260). Interacts (via intracellular region) with UFC1 (PubMed:25902260).
    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

  • Undergoes proteolysis by a metalloprotease and gives rise to a soluble form.
  • Glycosylation at Asn 167, Asn 253, Asn 324, and Asn 498
  • Modification sites at PhosphoSitePlus

Other Protein References for KIRREL3 Gene

Antibody Products

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

No data available for DME Specific Peptides for KIRREL3 Gene

Domains & Families for KIRREL3 Gene

Suggested Antigen Peptide Sequences for KIRREL3 Gene

Graphical View of Domain Structure for InterPro Entry

Q8IZU9

UniProtKB/Swiss-Prot:

KIRR3_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 KIRREL3: view

Function for KIRREL3 Gene

Molecular function for KIRREL3 Gene

UniProtKB/Swiss-Prot Function:
Synaptic adhesion molecule required for the formation of target-specific synapses. Required for formation of target-specific synapses at hippocampal mossy fiber synapses. Required for formation of mossy fiber filopodia, the synaptic structures connecting dentate granule and GABA neurons. Probably acts as a homophilic adhesion molecule that promotes trans-cellular interactions and stabilize mossy fiber filipodia contact and subsequent synapse formation. Required for the coalescence of vomeronasal sensory neuron axons. May be involved in the hematopoietic supportive capacity of stroma cells; the secreted extracellular domain is directly responsible for supporting hematopoietic stem cells.
genes like me logo Genes that share phenotypes with KIRREL3: view

Human Phenotype Ontology for KIRREL3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KIRREL3 Gene

MGI Knock Outs for KIRREL3:

Animal Model Products

CRISPR Products

miRNA for KIRREL3 Gene

miRTarBase miRNAs that target KIRREL3

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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.
Processed kin of IRRE-like protein 3: Secreted.

Subcellular locations from

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

Gene Ontology (GO) - Cellular Components for KIRREL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region ISS --
GO:0030425 dendrite ISS --
genes like me logo Genes that share ontologies with KIRREL3: view

Pathways & Interactions 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:0021740 principal sensory nucleus of trigeminal nerve development IEA --
GO:0021766 hippocampus development ISS --
GO:0072102 glomerulus morphogenesis IEA --
genes like me logo Genes that share ontologies with KIRREL3: view

No data available for SIGNOR curated interactions for KIRREL3 Gene

Drugs & Compounds for KIRREL3 Gene

No Compound Related Data Available

Transcripts for KIRREL3 Gene

Unigene Clusters for KIRREL3 Gene

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

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) (x6.7), Brain - Putamen (basal ganglia) (x5.0), Brain - Caudate (basal ganglia) (x4.9), and Brain - Cortex (x4.8).

Protein differential expression in normal tissues from HIPED for KIRREL3 Gene

This gene is overexpressed in Heart (35.5) and Frontal cortex (33.5).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 (PubMed:19012874). Also expressed in kidney, specifically in podocytes of kidney glomeruli (PubMed:12424224). Also expressed in skeletal muscle (PubMed:25488023).
genes like me logo Genes that share expression patterns with KIRREL3: view

Protein tissue co-expression partners for KIRREL3 Gene

- Elite partner

Primer Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia KIRREL3 35
  • 99.55 (n)
  • 99.77 (a)
KIRREL3 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kirrel3 35
  • 90.43 (n)
  • 97.91 (a)
oppossum
(Monodelphis domestica)
Mammalia KIRREL3 36
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 86 (a)
OneToMany
-- 36
  • 83 (a)
OneToMany
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 LOC571887 35
  • 73.88 (n)
  • 78.21 (a)
CABZ01073963.1 36
  • 82 (a)
OneToMany
KIRREL3 (1 of 3) 36
  • 82 (a)
OneToMany
kirrel3a 36
  • 73 (a)
OneToMany
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

(2) 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
VAR_054828 Mental retardation, autosomal dominant 4 (MRD4)
VAR_054829 Mental retardation, autosomal dominant 4 (MRD4)
VAR_054830 Mental retardation, autosomal dominant 4 (MRD4)
rs1874 -- 126,774,308(-) GAGTT(C/T)TTTCC 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

Variation tolerance for KIRREL3 Gene

Residual Variation Intolerance Score: 15.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.30; 53.20% of all genes are more intolerant (likely to be disease-causing)

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

(2) MalaCards diseases for KIRREL3 Gene - From: Orphanet and DISEASES

Disorder Aliases PubMed IDs
autosomal dominant non-syndromic intellectual disability
  • autosomal dominant mental retardation
familial nephrotic syndrome
  • congenital nephrotic syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

KIRR3_HUMAN
  • 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.
  • 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). {ECO:0000269 PubMed:19012874}.

Relevant External Links for KIRREL3

Genetic Association Database (GAD)
KIRREL3
Human Genome Epidemiology (HuGE) Navigator
KIRREL3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KIRREL3
genes like me logo Genes that share disorders with KIRREL3: view

No data available for Genatlas for KIRREL3 Gene

Publications for KIRREL3 Gene

  1. NEPH1 defines a novel family of podocin interacting proteins. (PMID: 12424224) Sellin L. … Walz G. (FASEB J. 2003) 2 3 4 67
  2. 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
  3. Identification of novel Kirrel3 gene splice variants in adult human skeletal muscle. (PMID: 25488023) Durcan P.J. … Myburgh K.H. (BMC Physiol. 2014) 3
  4. Genome wide association study of age at menarche in the Japanese population. (PMID: 23667675) Tanikawa C. … Matsuda K. (PLoS ONE 2013) 3
  5. Genetic variants associated with breast size also influence breast cancer risk. (PMID: 22747683) Eriksson N. … Tung J.Y. (BMC Med. Genet. 2012) 3

Products for KIRREL3 Gene

Sources for KIRREL3 Gene

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