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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KALRN Gene

protein-coding   GIFtS: 64
GCID: GC03P123798

Kalirin, RhoGEF Kinase

(Previous name: huntingtin-associated protein interacting protein (duo))
(Previous symbol: HAPIP)
Alzheimer's & Parkinson's Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Kalirin, RhoGEF Kinase1 2     Serine/Threonine Kinase With Dbl And Pleckstrin Homology Domains1
HAPIP1 2 3     ARHGEF242
Huntingtin-Associated Protein Interacting Protein (Duo)1 2     CHD52
Serine/Threonine-Protein Kinase With Dbl- And Pleckstrin Homology Domain2 3     CHDS52
DUET2 3     kalirin2
DUO2 3     Serine/Threonine Kinase With Dbl- And Pleckstrin Homology Domains2
TRAD2 3     Huntingtin-Associated Protein-Interacting Protein3
EC 2.7.11.13 8     Protein Duo3

External Ids:    HGNC: 48141   Entrez Gene: 89972   Ensembl: ENSG000001601457   OMIM: 6046055   UniProtKB: O602293   

Export aliases for KALRN gene to outside databases

Previous GC identifers: GC03P125297 GC03P121187


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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. Alternatively spliced transcript variants encoding different isoforms have been described. (provided
by RefSeq, Jul 2008)

GeneCards Summary for KALRN Gene: 
KALRN (kalirin, RhoGEF kinase) is a protein-coding gene. Diseases associated with KALRN include huntington's disease, and human immunodeficiency virus infectious disease, and among its related super-pathways are Cell adhesion Ephrins signaling and NRAGE signals death through JNK. GO annotations related to this gene include protein serine/threonine kinase activity and guanyl-nucleotide exchange factor activity. An important paralog of this gene is ARHGEF25.

UniProtKB/Swiss-Prot: KALRN_HUMAN, O60229
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

Gene Wiki entry for KALRN (Kalirin) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.2  NT_005612.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KALRN gene promoter:
         CREB   deltaCREB   NRSF form 1   NRSF form 2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKALRN promoter sequence
   Search SABiosciences Chromatin IP Primers for KALRN

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KALRN


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q21.2   Ensembl cytogenetic band:  3q21.1   HGNC cytogenetic band: 3q21.2

KALRN Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KALRN gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P123798:  view genomic region     (about GC identifiers)

Start:
123,798,870 bp from pter      End:
124,440,036 bp from pter
Size:
641,167 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: KALRN_HUMAN, O60229 (See protein sequence)
Recommended Name: Kalirin  
Size: 2985 amino acids; 340174 Da
Cofactor: Magnesium
Subunit: Interacts with the C-terminal of peptidylglycine alpha-amidating monooxygenase (PAM) and with the
huntingtin-associated protein 1 (HAP1) (By similarity). Interacts with FASLG
Subcellular location: Cytoplasm. Cytoplasm, cytoskeleton. Note=Associated with the cytoskeleton
Miscellaneous: Called DUO because the encoded protein is closely related to but shorter than TRIO
Sequence caution: Sequence=AAH58015.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence;
Secondary accessions: A8MSI4 C9JQ37 Q6ZN45 Q8TBQ5 Q9NSZ4 Q9Y2A5
Alternative splicing, Alternative initiation: 6 isoforms:  O60229-1   O60229-2   O60229-3   O60229-4   O60229-5   O60229-6   (Produced by alternative splicing. No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KALRN: NX_O60229

Explore proteomics data for KALRN at MOPED 

Post-translational modifications:

  • UniProtKB: Autophosphorylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O60229

  • 4/24 DME Specific Peptides for KALRN (O60229) (see all 24)
     DPCKFAL  EEKVAFY  SPIEYQR  KYQLLLK 

    KALRN Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KALRN Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001019831.2  NP_003938.1  NP_008995.2  

    ENSEMBL proteins: 
     ENSP00000395236   ENSP00000418611   ENSP00000240874   ENSP00000346122   ENSP00000402950  
     ENSP00000377134   ENSP00000291478   ENSP00000400064   ENSP00000420318   ENSP00000418790  
     ENSP00000353109   ENSP00000402419  
    Reactome Protein details: O60229
    Human Recombinant Protein Products for KALRN: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for KALRN 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005829cytosol TAS--
    GO:0015629actin cytoskeleton TAS10023074

    KALRN for ontologies           About GeneDecksing



    KALRN Antibody Products: 
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    Cloud-Clone Corp. CLIAs for KALRN


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    FN3: Fibronectin type III domain containing
    ISET: Immunoglobulin superfamily / I-set domain containing
    ARHGEF: Rho guanine nucleotide exchange factors

    IUPHAR Guide to PHARMACOLOGY protein family classification: kalirin, RhoGEF kinase 
    Trio family

    5/17 InterPro protein domains (see all 17):
     IPR003598 Ig_sub2
     IPR017441 Protein_kinase_ATP_BS
     IPR002017 Spectrin_repeat
     IPR002290 Ser/Thr_dual-sp_kinase_dom
     IPR000219 DH-domain

    Graphical View of Domain Structure for InterPro Entry O60229

    ProtoNet protein and cluster: O60229

    3 Blocks protein domains:
    IPB000219 DH domain
    IPB001849 Pleckstrin-like
    IPB002017 Spectrin repeat


    UniProtKB/Swiss-Prot: KALRN_HUMAN, O60229
    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)
    Similarity: Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family
    Similarity: Contains 1 CRAL-TRIO domain
    Similarity: Contains 2 DH (DBL-homology) domains
    Similarity: Contains 1 fibronectin type-III domain
    Similarity: Contains 1 Ig-like C2-type (immunoglobulin-like) domain
    Similarity: Contains 2 PH domains
    Similarity: Contains 1 protein kinase domain
    Similarity: Contains 2 SH3 domains
    Similarity: Contains 5 spectrin repeats


    KALRN for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KALRN_HUMAN, O60229
    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
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein

         Enzyme Number (IUBMB): EC 2.7.11.11 2

         Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity ----
    GO:0004674protein serine/threonine kinase activity IEA--
    GO:0004713protein tyrosine kinase activity ----
    GO:0005085guanyl-nucleotide exchange factor activity TAS9285789
    GO:0005089Rho guanyl-nucleotide exchange factor activity IEA--
         
    KALRN for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for KALRN:
     Decreased focal adhesion (FA)   Decreased substrate adherent c  Synthetic lethal with Ras 

         4 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Kalrn):
     behavior/neurological  homeostasis/metabolism  nervous system  no phenotypic analysis 

    KALRN for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for KALRN: Kalrntm1.1Riem Kalrntm1Ppen

       inGenious Targeting Laboratory - Custom generated mouse model solutions for KALRN 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for KALRN

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KALRN 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KALRN 

    miRNA
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    8/98 QIAGEN miScript miRNA Assays for microRNAs that regulate KALRN (see all 98):
    hsa-miR-194* hsa-miR-300 hsa-miR-15a hsa-miR-200a hsa-miR-938 hsa-miR-30d hsa-miR-3653 hsa-miR-3921
    SwitchGear 3'UTR luciferase reporter plasmidKALRN 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KALRN


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for KALRN About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Cell adhesion Ephrins signaling
    Cell adhesion Ephrins signaling0.30
    EPHB forward signaling0.30
    2Cell death signalling via NRAGE, NRIF and NADE
    Cell death signalling via NRAGE, NRIF and NADE0.74
    p75 NTR receptor-mediated signalling0.73
    NRAGE signals death through JNK0.74
    G alpha (12/13) signalling events0.46
    3Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.55
    GPCR downstream signaling0.90
    4G alpha (q) signalling events
    Gastrin-CREB signalling pathway via PKC and MAPK0.90
    G alpha (q) signalling events0.90
    5Rho GTPase cycle
    Signaling by Rho GTPases1.00
    Rho GTPase cycle1.00

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for KALRN
        Cell adhesion Ephrins signaling


    1 GeneGo (Thomson Reuters) Pathway for KALRN
        Cell adhesion Ephrins signaling

    3 BioSystems Pathways for KALRN
        Arf6 downstream pathway
    EPHB forward signaling
    Regulation of RAC1 activity

    5/12        Reactome Pathways for KALRN (see all 12)
        GPCR downstream signaling
    Signaling by Rho GTPases
    G alpha (12/13) signalling events
    Cell death signalling via NRAGE, NRIF and NADE
    Gastrin-CREB signalling pathway via PKC and MAPK



    KALRN for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KALRN

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    5/29 Interacting proteins for KALRN (O602292, 3 ENSP000002408744) via UniProtKB, MINT, STRING, and/or I2D (see all 29)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COILP384322, 3, ENSP000002403164MINT-2865680 MINT-2865661 I2D: score=3 STRING: ENSP00000240316
    GFI1BQ5VTD92, 3, ENSP000003447824MINT-2865699 I2D: score=3 STRING: ENSP00000344782
    PAMP190213, ENSP000003061004I2D: score=3 STRING: ENSP00000306100
    DISC1Q9NRI53, ENSP000003555964I2D: score=2 STRING: ENSP00000355596
    NDEL1Q9GZM83, ENSP000003339824I2D: score=2 STRING: ENSP00000333982
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006468protein phosphorylation TAS10023074
    GO:0007165signal transduction TAS9285789
    GO:0007264small GTPase mediated signal transduction TAS--
    GO:0007399nervous system development ISS--
    GO:0016192vesicle-mediated transport TAS9285789

    KALRN for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for KALRN

    2 HMDB Compounds for KALRN    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--
    MagnesiumMagnesium (see all 2)7439-95-4--

    Search CenterWatch for drugs/clinical trials and news about KALRN

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for KALRN gene (3 alternative transcripts): 
    NM_001024660.3  NM_003947.4  NM_007064.3  

    Unigene Cluster for KALRN:

    Kalirin, RhoGEF kinase
    Hs.8004  [show with all ESTs]
    Unigene Representative Sequence: NM_001024660
    18/23 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 23):
    ENST00000448253 ENST00000477496(uc003ehe.3 uc010hru.2 uc010hrw.2)
    ENST00000488825 ENST00000460856 ENST00000240874(uc010hrv.1 uc003ehf.1 uc011bjy.1)
    ENST00000483658(uc003ehd.3) ENST00000354186 ENST00000498499 ENST00000439170
    ENST00000522553 ENST00000484224 ENST00000393501(uc003ehh.1) ENST00000494648
    ENST00000473056 ENST00000393496(uc003ehi.3 uc011bjz.2) ENST00000471431
    ENST00000291478(uc003ehj.2 uc003ehk.3) ENST00000454902

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    Additional mRNA sequence: 

    AB011422.1 AK022394.1 AK123068.1 AK125979.1 AK128223.1 AK131379.1 AK296657.1 AK311154.1 
    AK311581.1 AK314126.1 AL137629.1 BC026865.1 BC037924.2 BC058015.1 NR_028136.1 U94190.1 

    24/26 DOTS entries (see all 26):

    DT.312935  DT.111681  DT.100658812  DT.309621  DT.101970226  DT.120902473  DT.100679684  DT.91743142 
    DT.75142475  DT.101963343  DT.308858  DT.120902528  DT.40276332  DT.120902464  DT.40131939  DT.91939654 
    DT.95306053  DT.97841248  DT.120902639  DT.95107955  DT.95108668  DT.95325918  DT.100664367  DT.86836071 

    24/189 AceView cDNA sequences (see all 189):

    BG697424 BU743210 AI982639 AA682905 AA725523 AA235876 AA609697 CA388966 
    AK125979 AV726450 BX116065 W35371 BX952656 BC026865 R90736 NM_003947 
    AA411833 AK131379 BX112817 BC058015 BC037924 BI831075 BX952039 T33303 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for KALRN (see all 10)    About this scheme

    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:                    -     -     -     -                                                                                                                     

    ExUns: 16 ^ 17a · 17b ^ 18a · 18b · 18c ^ 19 ^ 20 ^ 21a · 21b
    SP1:                                                            
    SP2:                                                            
    SP3:                                                            
    SP4:                                -     -                     
    SP5:                                                            


    ECgene alternative splicing isoforms for KALRN

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    KALRN expression in normal human tissues (normalized intensities)      KALRN embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    KALRN Expression
    About this image


    KALRN expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             vastus lateralis   
     
     Pancreas (Endocrine System)
             Posterior foregut-like cells ( A scalable, suspension protocol for derivation of...
     
     Liver (Hepatobiliary System)
             Mesothelial Cells Hepatic Mesenchyme
     
     Brain (Nervous System)

    See KALRN Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KALRN

    SOURCE GeneReport for Unigene cluster: Hs.8004

    UniProtKB/Swiss-Prot: KALRN_HUMAN, O60229
    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

        SABiosciences Expression via Pathway-Focused PCR Array including KALRN: 
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for KALRN gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kalrn1 , 5 kalirin, RhoGEF kinase1, 5 90.87(n)1
    98.02(a)1
      16 (24.27 cM)5
    5451561  NM_177357.31  NP_796331.21 
     339742585 
    chicken
    (Gallus gallus)
    Aves KALRN1 kalirin, RhoGEF kinase 82.41(n)
    94.16(a)
      424253  XM_001234054.2  XP_001234055.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    KALRN6
    (see all 3)
    kalirin, RhoGEF kinase
    (see all 3)

    52(a)
    (see all 3)
    possible ortholog
    1 ↔ 1
    (see all 3)
    AAWZ02040341(171-6327)
    1(78246630-78880120)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1001489881 kalirin-like 74.75(n)
    81.88(a)
      100148988  XM_003199173.1  XP_003199221.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta trio6
    CG158226
    --
    34(a)
    11(a)
    1 ↔ many
    possible ortholog
    3L(995982-1034875)
    3L(2153201-2163863)
    worm
    (Caenorhabditis elegans)
    Secernentea unc-736
    F55D12.26
    Protein F55D12.2, isoform a
    18(a)
    13(a)
    possible ortholog
    possible ortholog
    I(3999342-4031627)
    I(7889356-7894855)


    ENSEMBL Gene Tree for KALRN (if available)
    TreeFam Gene Tree for KALRN (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KALRN gene
    ARHGEF252  MCF2L22  PLEKHG4B2  TRIO2  MCF2L2  KIAA17552  PLEKHG42  ARHGEF402  
    MCF22  
    18/28 SIMAP similar genes for KALRN using alignment to 9 protein entries:     KALRN_HUMAN (see all proteins) (see all similar genes):
    TRIO    tgat    ARHGEF25    DAPK3    DAPK2    SESTD1
    STK17B    STK17A    MCF2L    MYLK4    STK32A    KIAA0999
    NUAK1    MCF2    MARK4    PNCK    CAMK2B    PRKD2

    KALRN for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/13179 SNPs in KALRN are shown (see all 13179)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0356254
    A breast cancer sample4--see VAR_0356252 S C mis40--------
    VAR_0359764
    A colorectal cancer sample4--see VAR_0359762 R W mis40--------
    VAR_0418984
    ----see VAR_0418982 S L mis40--------
    rs360823761,2
    C--121203145(+) ATGAC-/ATATATG 3 -- int10--------
    rs1429129601,2
    C--121213841(+) ACTAA-/AAATATA
    TATATATAT
    ATATA
    3 -- int10--------
    rs64388301,2
    C,A--121213842(+) CTAAAT/AATATA 3 -- int11Minor allele frequency- A:0.00WA 2
    rs1402840081,2
    C--121216338(+) AAAAA-/AAAGGCAA 3 -- cds1 int10--------
    rs1483181031,2
    C--121245855(+) TTTTC-/TTTTCT 3 -- int10--------
    rs130655401,2
    A--121264109(+) CATTCC/TTTTTT 2 -- int1 trp30--------
    rs113322271,2
    C--121297865(+) CAAAGA/-AAAAA 2 -- int1 trp32Minor allele frequency- -:0.25NA CSA 4

    HapMap Linkage Disequilibrium report for KALRN (123798870 - 124048870 bp, first 250kb of KALRN)

    Structural Variations
         Database of Genomic Variants (DGV) 10/25 variations for KALRN (see all 25):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2571462CNV Deletion19546169
    esv2725846CNV Deletion23290073
    esv2660299CNV Deletion23128226
    esv2725848CNV Deletion23290073
    esv2725847CNV Deletion23290073
    esv2725849CNV Deletion23290073
    esv2533647CNV Deletion19546169
    esv1481321CNV Insertion17803354
    esv267747CNV Insertion20981092
    esv268012CNV Insertion20981092


    Human Gene Mutation Database (HGMD): KALRN
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for KALRN

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604605    OMIM disorders: --

    UniProtKB/Swiss-Prot: KALRN_HUMAN, O60229
  • Coronary heart disease 5 (CHDS5) [MIM:608901]: A multifactorial disease characterized by an imbalance
    between myocardial functional requirements and the capacity of the coronary vessels to supply sufficient blood
    flow. Decreased capacity of the coronary vessels is often associated with thickening and loss of elasticity of
    the coronary arteries. Note=Disease susceptibility is associated with variations affecting the gene represented
    in this entry

  • 14 diseases for KALRN:    About MalaCards
    huntington's disease    human immunodeficiency virus infectious disease    macular degeneration    coronary heart disease
    ataxia    diabetes mellitus    schizophrenia    hypertension
    cerebritis    neuronitis    ovarian cancer    alzheimer's disease
    prostate cancer    prostatitis


    KALRN for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): KALRN
    Human Genome Epidemiology (HuGE) Navigator: KALRN (6 documents)

    Export disorders for KALRN gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for KALRN gene, integrated from 9 sources (see all 57):
    (articles sorted by number of sources associating them with KALRN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Huntingtin-associated protein 1 (HAP1) binds to a Trio-like polypeptide, with a rac1 guanine nucleotide exchange factor domain. (PubMed id 9285789)1, 2, 3, 9 Colomer V.... Ross C.A. (1997)
    2. Duet is a novel serine/threonine kinase with Dbl-homology (DH) and pleckstrin-homology (PH) domains. (PubMed id 10023074)1, 2, 3, 9 Kawai T.... Akira S. (1999)
    3. Kalirin: a novel genetic risk factor for ischemic str oke. (PubMed id 20107840)1, 4, 9 Krug T....Oliveira S.A. (2010)
    4. Peakwide mapping on chromosome 3q13 identifies the kalirin gene as a novel candidate gene for coronary artery disease. (PubMed id 17357071)1, 2, 9 Wang L.... Vance J.M. (2007)
    5. New gene functions in megakaryopoiesis and platelet fo rmation. (PubMed id 22139419)1, 4 Gieger C....Soranzo N. (2011)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    7. Inherited genetic variant predisposes to aggressive b ut not indolent prostate cancer. (PubMed id 20080650)1, 4 Xu J....Isaacs W.B. (2010)
    8. Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening. (PubMed id 19807924)1, 2 Voss M....Janssen O. (2009)
    9. Validation study of genetic associations with coronar y artery disease on chromosome 3q13-21 and potential effect modification by smo king. (PubMed id 19706030)1, 4 Horne B.D....Kraus W.E. (2009)
    10. Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies. (PubMed id 18839057)1, 4 Lesch K.P....Jacob C. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8997 HGNC: 4814 AceView: HAPIPandTRAD Ensembl:ENSG00000160145 euGenes: HUgn8997
    ECgene: KALRN H-InvDB: KALRN

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for KALRN Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for KALRN gene:
    Search GeneIP for patents involving KALRN

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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