KIRREL3 Gene (Protein Coding)

Kirre Like Nephrin Family Adhesion Molecule 3

GC11M126423
GIFtS:
43
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. The protein en... See more...

Aliases for KIRREL3 Gene

Aliases for KIRREL3 Gene

  • Kirre Like Nephrin Family Adhesion Molecule 3 2 3 5
  • NEPH2 2 3 4
  • Kin Of Irregular Chiasm-Like Protein 3 3 4
  • Kin Of IRRE-Like Protein 3 3 4
  • Nephrin-Like Protein 2 3 4
  • KIAA1867 2 4
  • KIRRE 2 3
  • Kin Of IRRE Like 3 (Drosophila) 2
  • Kin Of IRRE Like 3 3
  • Nephrin-Like 2 3
  • PRO4502 3
  • KIRREL3 5
  • 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. The protein encoded by this gene is a synaptic cell adhesion molecule with multiple extracellular immunoglobulin-like domains and a cytoplasmic PDZ domain-binding motif. Mutations in this gene are associated with several neurological and cognitive disorders. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]

GeneCards Summary for KIRREL3 Gene

KIRREL3 (Kirre Like Nephrin Family Adhesion Molecule 3) is a Protein Coding gene. Diseases associated with KIRREL3 include Autosomal Dominant Non-Syndromic Intellectual Disability and Autosomal Dominant Non-Syndromic Intellectual Disability 4. Among its related pathways are Primary Focal Segmental Glomerulosclerosis FSGS and Cell junction organization. An important paralog of this gene is KIRREL1.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for KIRREL3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KIRREL3 Gene

Genomics for KIRREL3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for KIRREL3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KIRREL3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KIRREL3

Top Transcription factor binding sites by QIAGEN in the KIRREL3 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • GATA-2
  • NRSF form 1
  • NRSF form 2
  • SRY

Genomic Locations for KIRREL3 Gene

Latest Assembly
chr11:126,423,358-127,003,460
(GRCh38/hg38)
Size:
580,103 bases
Orientation:
Minus strand

Previous Assembly
chr11:126,293,253-126,870,766
(GRCh37/hg19 by Entrez Gene)
Size:
577,514 bases
Orientation:
Minus strand

chr11:126,293,254-126,873,355
(GRCh37/hg19 by Ensembl)
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 Structure • Gene Density

RefSeq DNA sequence for KIRREL3 Gene

Proteins for KIRREL3 Gene

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  • 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

Protein Expression for KIRREL3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for KIRREL3 Gene

  • Undergoes proteolysis by a metalloprotease and gives rise to a soluble form.
  • Glycosylation at Asn167, Asn253, Asn324, and Asn498
  • Modification sites at PhosphoSitePlus

Other Protein References for KIRREL3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Boster Bio Antibodies for KIRREL3
  • Santa Cruz Biotechnology (SCBT) Antibodies for KIRREL3

No data available for DME Specific Peptides for KIRREL3 Gene

Domains & Families for KIRREL3 Gene

Gene Families for KIRREL3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted membrane proteins

Protein Domains for KIRREL3 Gene

InterPro:
Blocks:
  • Immunoglobulin C-2 type
  • Immunoglobulin subtype
  • CD80-like C2-set immunoglobulin
ProtoNet:

Suggested Antigen Peptide Sequences for KIRREL3 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ54611, highly similar to Kin of IRRE-like protein 3 (B4DT91_HUMAN)
  • Nephrin-like protein 2 (KIRR3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8IZU9

UniProtKB/Swiss-Prot:

KIRR3_HUMAN :
  • Belongs to the immunoglobulin superfamily.
Family:
  • Belongs to the immunoglobulin superfamily.
genes like me logo Genes that share domains with KIRREL3: view

Function for KIRREL3 Gene

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  6. Cell Lines for research

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.

Phenotypes From GWAS Catalog for KIRREL3 Gene

Gene Ontology (GO) - Molecular Function for KIRREL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12424224
GO:0050839 cell adhesion molecule binding IBA 21873635
genes like me logo Genes that share ontologies with KIRREL3: view
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 Models for research

  • Taconic Biosciences Mouse Models for KIRREL3

miRNA for KIRREL3 Gene

miRTarBase miRNAs that target KIRREL3

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KIRREL3

Clone products for research

No data available for Enzyme Numbers (IUBMB) , 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
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 KIRREL3 gene
Compartment Confidence
plasma membrane 5
extracellular 4
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 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:0005887 integral component of plasma membrane IBA 21873635
GO:0005911 cell-cell junction IBA 21873635
GO:0008021 synaptic vesicle IDA 25902260
genes like me logo Genes that share ontologies with KIRREL3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KIRREL3 Gene

Pathways & Interactions for KIRREL3 Gene

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

Pathways by source for KIRREL3 Gene

1 BioSystems pathway 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:0007156 homophilic cell adhesion via plasma membrane adhesion molecules ISS --
GO:0007416 synapse assembly IBA,ISS --
GO:0021740 principal sensory nucleus of trigeminal nerve development 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

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No Compound Related Data Available

Transcripts for KIRREL3 Gene

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mRNA/cDNA for KIRREL3 Gene

3 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KIRREL3

Clone products for research

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

Expression for KIRREL3 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KIRREL3 Gene

mRNA expression in normal human tissues for KIRREL3 Gene
mRNA expression by GTEx for KIRREL3 GenemRNA expression by BioGPS 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 and MOPED for KIRREL3 Gene



Protein tissue co-expression partners for KIRREL3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KIRREL3

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).

Evidence on tissue expression from TISSUES for KIRREL3 Gene

  • Nervous system(4.6)
  • Kidney(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KIRREL3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • pharynx
  • skull
  • tooth
Thorax:
  • chest wall
  • heart
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
Pelvis:
  • rectum
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with KIRREL3: view

Primer products for research

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 30 31
  • 99.55 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia KIRREL3 31
  • 95 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia KIRREL3 30 31
  • 92.63 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia KIRREL3 30 31
  • 91.04 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Kirrel3 30
  • 90.43 (n)
Mouse
(Mus musculus)
 Mammalia Kirrel3 30 17 31
  • 90.36 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 86 (a)
 OneToMany
-- 31
  • 83 (a)
 OneToMany
Chicken
(Gallus gallus)
 Aves KIRREL3 30 31
  • 83.42 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia KIRREL3 31
  • 81 (a)
 OneToOne
Zebrafish
(Danio rerio)
 Actinopterygii KIRREL3 (1 of 3) 31
  • 82 (a)
 OneToMany
CABZ01073963.1 31
  • 82 (a)
 OneToMany
LOC571887 30
  • 73.88 (n)
kirrel3a 31
  • 73 (a)
 OneToMany
Fruit Fly
(Drosophila melanogaster)
 Insecta rst 31
  • 21 (a)
 ManyToMany
kirre 31
  • 19 (a)
 ManyToMany
CG14372 31
  • 13 (a)
 ManyToMany
CG43462 31
  • 12 (a)
 ManyToMany
CG12950 31
  • 12 (a)
 ManyToMany
side 31
  • 12 (a)
 ManyToMany
CG34114 31
  • 12 (a)
 ManyToMany
fred 31
  • 11 (a)
 ManyToMany
CG42313 31
  • 11 (a)
 ManyToMany
CG34371 31
  • 10 (a)
 ManyToMany
ed 31
  • 10 (a)
 ManyToMany
CG12484 31
  • 9 (a)
 ManyToMany
CG34113 31
  • 8 (a)
 ManyToMany
nrm 31
  • 6 (a)
 ManyToMany
Worm
(Caenorhabditis elegans)
 Secernentea syg-1 31
  • 22 (a)
 OneToMany
Species where no ortholog for KIRREL3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for KIRREL3: view image

Paralogs for KIRREL3 Gene

Paralogs for KIRREL3 Gene

(2) SIMAP similar genes for KIRREL3 Gene using alignment to 3 proteins:

  • KIRR3_HUMAN
  • B4DT91_HUMAN
  • E9PRX9_HUMAN
genes like me logo Genes that share paralogs with KIRREL3: view

Variants for KIRREL3 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KIRREL3 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
931009 Uncertain Significance: not provided 126,526,589(-) C/T
NM_032531.4(KIRREL3):c.232G>A (p.Val78Ile) 		MISSENSE
975977 Uncertain Significance: Intellectual disability 126,424,965(-) G/A
NM_032531.4(KIRREL3):c.1952C>T (p.Thr651Ile) 		MISSENSE
992844 Likely Pathogenic: not provided 126,449,065(-) C/A
NM_032531.4(KIRREL3):c.941G>T (p.Cys314Phe) 		MISSENSE
rs1057519593 Likely Pathogenic: Mental retardation, autosomal dominant 4 126,424,898(-) C/T
NM_032531.4(KIRREL3):c.2019G>A (p.Met673Ile) 		MISSENSE
rs1057524001 Uncertain Significance: not provided 126,463,277(-) T/C
NM_032531.4(KIRREL3):c.622A>G (p.Ile208Val) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KIRREL3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv154e201 CNV deletion 23290073
dgv716e59 CNV duplication 20981092
dgv717e59 CNV duplication 20981092
esv2046864 CNV deletion 18987734
esv2526292 CNV insertion 19546169
esv2592221 CNV deletion 19546169
esv2617561 CNV insertion 19546169
esv2661931 CNV deletion 23128226
esv2669150 CNV deletion 23128226
esv2678979 CNV deletion 23128226
esv2745216 CNV deletion 23290073
esv2745217 CNV deletion 23290073
esv275069 CNV loss 21479260
esv27573 CNV loss 19812545
esv2761719 CNV gain 21179565
esv3408941 CNV duplication 20981092
esv3411156 CNV duplication 20981092
esv3548487 CNV deletion 23714750
esv3548490 CNV deletion 23714750
esv3579954 CNV loss 25503493
esv3628008 CNV loss 21293372
esv3628010 CNV loss 21293372
esv3628011 CNV loss 21293372
esv9231 CNV gain 19470904
esv988792 CNV deletion 20482838
nsv1050928 CNV gain 25217958
nsv1075436 CNV duplication 25765185
nsv1076383 CNV duplication 25765185
nsv1076384 CNV duplication 25765185
nsv1122678 CNV deletion 24896259
nsv1124650 CNV duplication 24896259
nsv1132354 CNV duplication 24896259
nsv1133176 CNV tandem duplication 24896259
nsv1134184 CNV deletion 24896259
nsv1144598 CNV deletion 24896259
nsv1149894 CNV duplication 26484159
nsv472075 CNV novel sequence insertion 20440878
nsv475355 CNV novel sequence insertion 20440878
nsv481607 CNV novel sequence insertion 20440878
nsv523864 CNV gain 19592680
nsv524109 CNV loss 19592680
nsv538 CNV insertion 18451855
nsv539 CNV insertion 18451855
nsv556531 CNV loss 21841781
nsv556532 CNV loss 21841781
nsv556533 CNV loss 21841781

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)

Additional Variant Information for KIRREL3 Gene

Human Gene Mutation Database (HGMD)
KIRREL3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KIRREL3

SNP Genotyping and Copy Number Assays for research

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

Disorders for KIRREL3 Gene

MalaCards: The human disease database

(7) MalaCards diseases for KIRREL3 Gene - From: CVR, ORP, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

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). {ECO:0000269 PubMed:19012874}.

Additional Disease Information for KIRREL3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 journal : official publication of the Federation of American Societies for Experimental Biology 2003) 2 3 4
  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 research : an international journal for rapid publication of reports on genes and genomes 2001) 2 3 4
  3. Autism and Intellectual Disability-Associated KIRREL3 Interacts with Neuronal Proteins MAP1B and MYO16 with Potential Roles in Neurodevelopment. (PMID: 25902260) Liu YF … Srivastava AK (PloS one 2015) 3 4
  4. Identification of novel Kirrel3 gene splice variants in adult human skeletal muscle. (PMID: 25488023) Durcan PJ … Myburgh KH (BMC physiology 2014) 3 4
  5. Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs. (PMID: 20195266) Adkins DE … van den Oord EJ (Molecular psychiatry 2011) 3 41

ExternalLinks

View latest publications for KIRREL3 gene in Mastermind

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