Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with the huntingtin-associated protein 1, which is a huntingtin binding protein that may function in vesicle trafficking. [provided by RefSeq, Apr 2016] See more...

Aliases for KALRN Gene

Aliases for KALRN Gene

  • Kalirin RhoGEF Kinase 2 3 5
  • Kalirin 2 3 4
  • DUET 2 3 4
  • TRAD 2 3 4
  • Serine/Threonine-Protein Kinase With Dbl- And Pleckstrin Homology Domain 3 4
  • Huntingtin-Associated Protein Interacting Protein (Duo) 2 3
  • EC 2.7.11.1 4 50
  • ARHGEF24 2 3
  • HAPIP 3 4
  • DUO 3 4
  • Serine/Threonine Kinase With Dbl And Pleckstrin Homology Domains 2
  • Huntingtin-Associated Protein-Interacting Protein 4
  • Protein Duo 4
  • Hs.8004 2
  • CHDS5 3
  • KALRN 5
  • CHD5 3
  • Duo 2

External Ids for KALRN Gene

Previous HGNC Symbols for KALRN Gene

  • HAPIP

Previous GeneCards Identifiers for KALRN Gene

  • GC03P125297
  • GC03P123798
  • GC03P121187

Summaries for KALRN Gene

Entrez Gene Summary for KALRN Gene

  • Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with the huntingtin-associated protein 1, which is a huntingtin binding protein that may function in vesicle trafficking. [provided by RefSeq, Apr 2016]

GeneCards Summary for KALRN Gene

KALRN (Kalirin RhoGEF Kinase) is a Protein Coding gene. Diseases associated with KALRN include Coronary Heart Disease 5 and Schizophrenia 1. Among its related pathways are p75 NTR receptor-mediated signalling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is TRIO.

UniProtKB/Swiss-Prot Summary for KALRN Gene

  • Promotes the exchange of GDP by GTP. Activates specific Rho GTPase family members, thereby inducing various signaling mechanisms that regulate neuronal shape, growth, and plasticity, through their effects on the actin cytoskeleton. Induces lamellipodia independent of its GEF activity.

Gene Wiki entry for KALRN Gene

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

Genomics for KALRN Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KALRN 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
GH03J124584 Promoter/Enhancer 2.5 VISTA EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 274.8 +553.2 553237 5 NCOR1 IKZF1 ZNF600 CEBPA NFIC ZIC2 YY1 BHLHE40 MBD2 TBP KALRN ITGB5 LOC105374076 LOC100420144 UMPS
GH03J124032 Promoter/Enhancer 1.7 EPDnew ENCODE CraniofacialAtlas 261.7 -0.3 -287 2.6 ZNF580 POLR2A ZIC2 ZBTB10 ZNF341 ZEB1 CTCF SIN3A SP2 SMAD4 KALRN HSALNG0028564 lnc-KALRN-3 SEC22A ROPN1 UMPS
GH03J124094 Promoter/Enhancer 0.5 EPDnew Ensembl 250.2 +61.4 61360 0.2 KALRN HSALNG0028568 HSALNG0028567 lnc-KALRN-3 UMPS
GH03J124591 Enhancer 1.2 Ensembl ENCODE dbSUPER 14.6 +560.0 560028 3.1 BCLAF1 IKZF1 ATF3 YY1 ZNF217 ZNF592 TRIM22 ZFP64 CTBP1 FOXA2 KALRN LOC105374076 LOC100420144 UMPS
GH03J124628 Promoter/Enhancer 1.6 Ensembl ENCODE dbSUPER 9.3 +601.8 601770 13.4 BCLAF1 CEBPA YY1 MXD4 FOXA1 TRIM22 FEZF1 ZFP64 HOMEZ KMT2B KALRN ITGB5 piR-31292-127 piR-34822-231 UMPS
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the KALRN gene promoter:
  • CREB
  • deltaCREB
  • NRSF form 1
  • NRSF form 2

Genomic Locations for KALRN Gene

Latest Assembly
chr3:124,033,341-124,726,325
(GRCh38/hg38)
Size:
692,985 bases
Orientation:
Plus strand

Previous Assembly
chr3:123,813,554-124,445,172
(GRCh37/hg19 by Entrez Gene)
Size:
631,619 bases
Orientation:
Plus strand

chr3:123,798,870-124,445,172
(GRCh37/hg19 by Ensembl)
Size:
646,303 bases
Orientation:
Plus strand

Genomic View for KALRN Gene

Genes around KALRN on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for KALRN Gene

Proteins for KALRN Gene

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

    Protein Symbol:
    O60229-KALRN_HUMAN
    Recommended name:
    Kalirin
    Protein Accession:
    O60229
    Secondary Accessions:
    • A8MSI4
    • C9JQ37
    • J3QSW6
    • Q6ZN45
    • Q8TBQ5
    • Q9NSZ4
    • Q9Y2A5

    Protein attributes for KALRN Gene

    Size:
    2986 amino acids
    Molecular mass:
    340261 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Interacts with the C-terminal of peptidylglycine alpha-amidating monooxygenase (PAM) and with the huntingtin-associated protein 1 (HAP1) (By similarity). Interacts with FASLG.
    SequenceCaution:
    • Sequence=AAH58015.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAD18530.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};
    Miscellaneous:
    • Called DUO because the encoded protein is closely related to but shorter than TRIO.

    Three dimensional structures from OCA and Proteopedia for KALRN Gene

    Alternative splice isoforms for KALRN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KALRN Gene

Selected DME Specific Peptides for KALRN Gene

O60229:
  • NIFLKELEKYEQLPEDVGHCFVTWADKFQMYV
  • EEKVAFY
  • KTHQSALQVQQKAE
  • QRENRVLH
  • IWQHRKVRLHQRLQLCVFQQ
  • GHYASQQI
  • RRKHQND
  • KRRLDQCQQYVVFERSAKQAL
  • LLDMSVSFHTH
  • VCKRGFTVI
  • ANYSKAVH
  • DPCKFAL
  • SPIEYQR
  • KYQLLLK
  • SELLRKG
  • FLQLRIFE
  • HIESVLQQLD
  • LDQCFQLRLFEQDAEKMFDWI
  • LSGVSPFLD
  • TEDLTLAEQRLQ
  • PSEDVCK
  • QIYDWHKDFFL
  • KERRVFLFEQIVIFSE
  • IHVALIIKPDNFWQKQ

Post-translational modifications for KALRN Gene

Domains & Families for KALRN Gene

Gene Families for KALRN Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for KALRN Gene

GenScript: Design optimal peptide antigens:
  • Serine/threonine-protein kinase with Dbl- and pleckstrin homology domain (KALRN_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O60229

UniProtKB/Swiss-Prot:

KALRN_HUMAN :
  • The two GEF domains catalyze nucleotide exchange for RAC1 and RhoA which are bound by DH1 and DH2 respectively. The two GEF domains appear to play differing roles in neuronal development and axonal outgrowth. SH3 1 binds to the first GEF domain inhibiting GEF activity only when in the presence of a PXXP peptide, suggesting that the SH3 domain/peptide interaction mediates binding to GEF1. CRK1 SH3 domain binds to and inhibits GEF1 activity (By similarity).
  • Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.
Domain:
  • The two GEF domains catalyze nucleotide exchange for RAC1 and RhoA which are bound by DH1 and DH2 respectively. The two GEF domains appear to play differing roles in neuronal development and axonal outgrowth. SH3 1 binds to the first GEF domain inhibiting GEF activity only when in the presence of a PXXP peptide, suggesting that the SH3 domain/peptide interaction mediates binding to GEF1. CRK1 SH3 domain binds to and inhibits GEF1 activity (By similarity).
Family:
  • Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.
genes like me logo Genes that share domains with KALRN: view

Function for KALRN Gene

Molecular function for KALRN Gene

UniProtKB/Swiss-Prot Function:
Promotes the exchange of GDP by GTP. Activates specific Rho GTPase family members, thereby inducing various signaling mechanisms that regulate neuronal shape, growth, and plasticity, through their effects on the actin cytoskeleton. Induces lamellipodia independent of its GEF activity.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L-threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1;.

Enzyme Numbers (IUBMB) for KALRN Gene

Phenotypes From GWAS Catalog for KALRN Gene

Gene Ontology (GO) - Molecular Function for KALRN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity TAS 10023074
GO:0005085 guanyl-nucleotide exchange factor activity TAS,EXP 12546821
GO:0005089 Rho guanyl-nucleotide exchange factor activity IEA --
genes like me logo Genes that share ontologies with KALRN: view
genes like me logo Genes that share phenotypes with KALRN: view

Animal Models for KALRN Gene

MGI Knock Outs for KALRN:

Animal Models for research

  • Taconic Biosciences Mouse Models for KALRN

Inhibitory RNAs for research

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

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KALRN Gene

Localization for KALRN Gene

Subcellular locations from UniProtKB/Swiss-Prot for KALRN Gene

Cytoplasm. Cytoplasm, cytoskeleton. Note=Associated with the cytoskeleton.

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 KALRN gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 4
cytoskeleton 4
plasma membrane 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KALRN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0015629 actin cytoskeleton TAS 10023074
genes like me logo Genes that share ontologies with KALRN: view

Pathways & Interactions for KALRN Gene

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

Pathways by source for KALRN Gene

1 GeneGo (Thomson Reuters) pathway for KALRN Gene
  • Cell adhesion Ephrins signaling
1 Qiagen pathway for KALRN Gene
  • EphB-EphrinB Signaling

SIGNOR curated interactions for KALRN Gene

Is activated by:

Gene Ontology (GO) - Biological Process for KALRN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation TAS,IEA --
GO:0007165 signal transduction TAS 9285789
GO:0007186 G protein-coupled receptor signaling pathway TAS --
GO:0007399 nervous system development ISS --
GO:0007411 axon guidance IEA --
genes like me logo Genes that share ontologies with KALRN: view

Drugs & Compounds for KALRN Gene

(2) Drugs for KALRN Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved, Experimental, Investigational Pharma 0
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with KALRN: view

Transcripts for KALRN Gene

mRNA/cDNA for KALRN Gene

25 REFSEQ mRNAs :
26 NCBI additional mRNA sequence :
22 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 KALRN

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

ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c · 3d ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^
SP1: - - - - - - -
SP2:
SP3:
SP4:
SP5: - - - -
SP6: - - -
SP7:
SP8:
SP9: - - -
SP10:

ExUns: 16 ^ 17a · 17b ^ 18a · 18b · 18c ^ 19 ^ 20 ^ 21a · 21b
SP1:
SP2:
SP3:
SP4: - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for KALRN Gene

GeneLoc Exon Structure for
KALRN

Expression for KALRN Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Brain - Cortex (x4.6), Brain - Frontal Cortex (BA9) (x4.6), and Artery - Aorta (x4.3).

Protein differential expression in normal tissues from HIPED for KALRN Gene

This gene is overexpressed in Peripheral blood mononuclear cells (48.5) and Platelet (10.0).

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



Protein tissue co-expression partners for KALRN Gene

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

SOURCE GeneReport for Unigene cluster for KALRN Gene:

Hs.8004

mRNA Expression by UniProt/SwissProt for KALRN Gene:

O60229-KALRN_HUMAN
Tissue specificity: Isoform 2 is brain specific. Highly expressed in cerebral cortex, putamen, amygdala, hippocampus and caudate nucleus. Weakly expressed in brain stem and cerebellum. Isoform 4 is expressed in skeletal muscle.

Evidence on tissue expression from TISSUES for KALRN Gene

  • Nervous system(4.9)
  • Muscle(4.5)
  • Kidney(4.4)
  • Blood(4.3)
  • Liver(2.2)
  • Heart(2.2)
genes like me logo Genes that share expression patterns with KALRN: view

Primer products for research

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

Orthologs for KALRN Gene

This gene was present in the common ancestor of animals.

Orthologs for KALRN Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KALRN 30
  • 100 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia KALRN 29 30
  • 93.3 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia KALRN 29 30
  • 93 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Kalrn 29
  • 91.03 (n)
Mouse
(Mus musculus)
Mammalia Kalrn 29 16 30
  • 90.87 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia KALRN 30
  • 90 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia KALRN 30
  • 54 (a)
OneToOne
Chicken
(Gallus gallus)
Aves KALRN 29 30
  • 82.4 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia KALRN 30
  • 52 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii kalrna 30
  • 43 (a)
OneToMany
kalrnb 30
  • 1 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta trio 30
  • 35 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 2 (a)
OneToMany
Species where no ortholog for KALRN 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 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)
  • Worm (Caenorhabditis elegans)

Evolution for KALRN Gene

ENSEMBL:
Gene Tree for KALRN (if available)
TreeFam:
Gene Tree for KALRN (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KALRN: view image
Alliance of Genome Resources:
Additional Orthologs for KALRN

Paralogs for KALRN Gene

(28) SIMAP similar genes for KALRN Gene using alignment to 9 proteins:

  • KALRN_HUMAN
  • C9IYX8_HUMAN
  • C9IZQ6_HUMAN
  • C9J1B4_HUMAN
  • E7EUZ8_HUMAN
  • H7BXZ5_HUMAN
  • H7C0I9_HUMAN
  • H7C1X7_HUMAN
  • J3QSW6_HUMAN
genes like me logo Genes that share paralogs with KALRN: view

Variants for KALRN Gene

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

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
983063 Uncertain Significance: Coronary heart disease 5 124,398,702(+) C/T
NM_001024660.5(KALRN):c.2171C>T (p.Ser724Leu)
MISSENSE
rs115886457 Benign: not provided 124,657,803(+) C/T
NM_001024660.4(KALRN):c.6033C>T (p.His2011=)
SYNONYMOUS
rs116515655 Benign: not provided 124,658,451(+) C/T
NM_001024660.4(KALRN):c.6054C>T (p.Tyr2018=)
SYNONYMOUS
rs118703438 A colorectal cancer sample p.Arg213Trp
rs1288235858 Likely Benign: not provided 124,719,161(+) C/T
NM_001024660.4(KALRN):c.8652C>T (p.Ser2884=)
SYNONYMOUS

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

Variant ID Type Subtype PubMed ID
esv1481321 CNV insertion 17803354
esv2533647 CNV deletion 19546169
esv2571462 CNV deletion 19546169
esv2660299 CNV deletion 23128226
esv2725846 CNV deletion 23290073
esv2725847 CNV deletion 23290073
esv2725848 CNV deletion 23290073
esv2725849 CNV deletion 23290073
esv2763296 CNV loss 21179565
esv3303468 CNV mobile element insertion 20981092
esv3372714 CNV insertion 20981092
esv3414936 CNV insertion 20981092
esv3418900 CNV insertion 20981092
esv3568996 CNV loss 25503493
esv3597637 CNV loss 21293372
esv3597638 CNV loss 21293372
esv3597641 CNV loss 21293372
esv5483 CNV gain 19470904
nsv1001677 CNV loss 25217958
nsv1074618 CNV deletion 25765185
nsv1109544 CNV deletion 24896259
nsv1114421 CNV deletion 24896259
nsv1140346 OTHER inversion 24896259
nsv1160974 CNV duplication 26073780
nsv3980 CNV deletion 18451855
nsv460837 CNV gain 19166990
nsv472248 CNV novel sequence insertion 20440878
nsv476283 CNV novel sequence insertion 20440878
nsv477724 CNV novel sequence insertion 20440878
nsv513069 CNV loss 21212237
nsv522068 CNV gain 19592680
nsv522662 CNV loss 19592680
nsv591428 CNV gain 21841781
nsv829711 CNV gain 17160897
nsv956845 CNV deletion 24416366
nsv979873 CNV duplication 23825009

Variation tolerance for KALRN Gene

Residual Variation Intolerance Score: 0.223% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.79; 73.61% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KALRN Gene

Human Gene Mutation Database (HGMD)
KALRN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KALRN
Leiden Open Variation Database (LOVD)
KALRN

SNP Genotyping and Copy Number Assays for research

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

Disorders for KALRN Gene

MalaCards: The human disease database

(5) MalaCards diseases for KALRN Gene - From: OMI, CVR, COP, and GCD

Disorder Aliases PubMed IDs
coronary heart disease 5
  • coronary heart disease, susceptibility to, 5
schizophrenia 1
  • sczd1
huntington disease
  • hd
schizophrenia
  • sczd
disease of mental health
  • mental health
- elite association - COSMIC cancer census association via MalaCards
Search KALRN in MalaCards View complete list of genes associated with diseases

Additional Disease Information for KALRN

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 KALRN: view

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

Publications for KALRN Gene

  1. Duet is a novel serine/threonine kinase with Dbl-Homology (DH) and Pleckstrin-Homology (PH) domains. (PMID: 10023074) Kawai T … Akira S (Gene 1999) 2 3 4 22
  2. Huntingtin-associated protein 1 (HAP1) binds to a Trio-like polypeptide, with a rac1 guanine nucleotide exchange factor domain. (PMID: 9285789) Colomer V … Ross CA (Human molecular genetics 1997) 2 3 4 22
  3. Kalirin: a novel genetic risk factor for ischemic stroke. (PMID: 20107840) Krug T … Oliveira SA (Human genetics 2010) 3 22 40
  4. Peakwide mapping on chromosome 3q13 identifies the kalirin gene as a novel candidate gene for coronary artery disease. (PMID: 17357071) Wang L … Vance JM (American journal of human genetics 2007) 3 22 72
  5. New gene functions in megakaryopoiesis and platelet formation. (PMID: 22139419) Gieger C … Soranzo N (Nature 2011) 3 40

Products for KALRN Gene

Sources for KALRN Gene