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KALRN (kalirin, RhoGEF kinase)

Identity

Other aliasARHGEF24
CHD5
CHDS5
DUET
DUO
HAPIP
TRAD
HGNC (Hugo) KALRN
LocusID (NCBI) 8997
Atlas_Id 56634
Location 3q21.2  [Link to chromosome band 3q21]
Location_base_pair Starts at 123813528 and ends at 124445172 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ECT2 (3q26.31) / KALRN (3q21.2)KALRN (3q21.2) / ELF3 (1q32.1)KALRN (3q21.2) / PRB4 (12p13.2)
KPNB1 (17q21.32) / KALRN (3q21.2)NLK (17q11.2) / KALRN (3q21.2)RYK (3q22.2) / KALRN (3q21.2)
UMPS (3q21.2) / KALRN (3q21.2)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)KALRN   4814
Cards
Entrez_Gene (NCBI)KALRN  8997  kalirin, RhoGEF kinase
AliasesARHGEF24; CHD5; CHDS5; DUET; 
DUO; HAPIP; TRAD
GeneCards (Weizmann)KALRN
Ensembl hg19 (Hinxton) [Gene_View]  chr3:123813528-124445172 [Contig_View]  KALRN [Vega]
Ensembl hg38 (Hinxton) [Gene_View]  chr3:123813528-124445172 [Contig_View]  KALRN [Vega]
TCGA cBioPortalKALRN
AceView (NCBI)KALRN
Genatlas (Paris)KALRN
WikiGenes8997
SOURCE (Princeton)KALRN
Genetics Home Reference (NIH)KALRN
Genomic and cartography
GoldenPath hg19 (UCSC)KALRN  -     chr3:123813528-124445172 +  3q21.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)KALRN  -     3q21.2   [Description]    (hg38-Dec_2013)
EnsemblKALRN - 3q21.2 [CytoView hg19]  KALRN - 3q21.2 [CytoView hg38]
Mapping of homologs : NCBIKALRN [Mapview hg19]  KALRN [Mapview hg38]
OMIM604605   608901   
Gene and transcription
Genbank (Entrez)AB011422 AI024603 AK022394 AK096580 AK123068
RefSeq transcript (Entrez)NM_001024660 NM_001322988 NM_001322989 NM_001322990 NM_001322991 NM_001322992 NM_001322993 NM_001322994 NM_001322995 NM_001322996 NM_001322997 NM_001322998 NM_001322999 NM_001323000 NM_001323001 NM_003947 NM_007064
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KALRN
Cluster EST : UnigeneHs.13281 [ NCBI ]
CGAP (NCI)Hs.13281
Gene ExpressionKALRN [ NCBI-GEO ]   KALRN [ EBI - ARRAY_EXPRESS ]   KALRN [ SEEK ]   KALRN [ MEM ]
Gene Expression Viewer (FireBrowse)KALRN [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8997
GTEX Portal (Tissue expression)KALRN
Protein : pattern, domain, 3D structure
UniProt/SwissProtO60229   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO60229  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO60229
Splice isoforms : SwissVarO60229
Catalytic activity : Enzyme2.7.11.1 [ Enzyme-Expasy ]   2.7.11.12.7.11.1 [ IntEnz-EBI ]   2.7.11.1 [ BRENDA ]   2.7.11.1 [ KEGG ]   
PhosPhoSitePlusO60229
Domaine pattern : Prosite (Expaxy)CRAL_TRIO (PS50191)    DH_2 (PS50010)    FN3 (PS50853)    IG_LIKE (PS50835)    PH_DOMAIN (PS50003)    PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_ST (PS00108)    SH3 (PS50002)   
Domains : Interpro (EBI)CRAL-TRIO_dom    DH-domain    FN3_dom    Ig-like_dom    Ig-like_fold    Ig_I-set    Ig_sub    Ig_sub2    Kalirin    Kinase-like_dom    PH_dom-like    PH_domain    Prot_kinase_dom    Protein_kinase_ATP_BS    Ser/Thr_kinase_AS    SH3_domain    Spectrin/alpha-actinin    Spectrin_repeat   
Domain families : Pfam (Sanger)CRAL_TRIO (PF00650)    fn3 (PF00041)    I-set (PF07679)    PH (PF00169)    Pkinase (PF00069)    RhoGEF (PF00621)    Spectrin (PF00435)   
Domain families : Pfam (NCBI)pfam00650    pfam00041    pfam07679    pfam00169    pfam00069    pfam00621    pfam00435   
Domain families : Smart (EMBL)FN3 (SM00060)  IG (SM00409)  IGc2 (SM00408)  PH (SM00233)  RhoGEF (SM00325)  S_TKc (SM00220)  SEC14 (SM00516)  SH3 (SM00326)  SPEC (SM00150)  
Conserved Domain (NCBI)KALRN
DMDM Disease mutations8997
Blocks (Seattle)KALRN
SuperfamilyO60229
Peptide AtlasO60229
IPIIPI00028382   IPI00794432   IPI00021156   IPI00410727   IPI00410728   IPI00607777   IPI00953447   IPI00793858   IPI00793481   IPI00946196   IPI00939290   IPI00794877   
Protein Interaction databases
DIP (DOE-UCLA)O60229
IntAct (EBI)O60229
BioGRIDKALRN
STRING (EMBL)KALRN
ZODIACKALRN
Ontologies - Pathways
QuickGOO60229
Ontology : AmiGObehavioral fear response  protein serine/threonine kinase activity  guanyl-nucleotide exchange factor activity  guanyl-nucleotide exchange factor activity  Rho guanyl-nucleotide exchange factor activity  GTPase activator activity  ATP binding  cytosol  protein phosphorylation  signal transduction  Rho protein signal transduction  nervous system development  neuromuscular junction development  lactation  memory  adult locomotory behavior  response to mechanical stimulus  postsynaptic density  smooth muscle cell migration  actin cytoskeleton  vesicle-mediated transport  Rac guanyl-nucleotide exchange factor activity  regulation of Rho protein signal transduction  social behavior  intracellular signal transduction  maternal behavior  positive regulation of apoptotic process  positive regulation of GTPase activity  metal ion binding  habituation  ephrin receptor signaling pathway  behavioral response to cocaine  regulation of neuronal synaptic plasticity  smooth muscle cell proliferation  regulation of small GTPase mediated signal transduction  regulation of synaptic transmission, glutamatergic  negative regulation of growth hormone secretion  maternal process involved in parturition  positive regulation of dendritic spine morphogenesis  behavioral response to formalin induced pain  extracellular exosome  positive regulation of long-term synaptic potentiation  regulation of protein localization to plasma membrane  
Ontology : EGO-EBIbehavioral fear response  protein serine/threonine kinase activity  guanyl-nucleotide exchange factor activity  guanyl-nucleotide exchange factor activity  Rho guanyl-nucleotide exchange factor activity  GTPase activator activity  ATP binding  cytosol  protein phosphorylation  signal transduction  Rho protein signal transduction  nervous system development  neuromuscular junction development  lactation  memory  adult locomotory behavior  response to mechanical stimulus  postsynaptic density  smooth muscle cell migration  actin cytoskeleton  vesicle-mediated transport  Rac guanyl-nucleotide exchange factor activity  regulation of Rho protein signal transduction  social behavior  intracellular signal transduction  maternal behavior  positive regulation of apoptotic process  positive regulation of GTPase activity  metal ion binding  habituation  ephrin receptor signaling pathway  behavioral response to cocaine  regulation of neuronal synaptic plasticity  smooth muscle cell proliferation  regulation of small GTPase mediated signal transduction  regulation of synaptic transmission, glutamatergic  negative regulation of growth hormone secretion  maternal process involved in parturition  positive regulation of dendritic spine morphogenesis  behavioral response to formalin induced pain  extracellular exosome  positive regulation of long-term synaptic potentiation  regulation of protein localization to plasma membrane  
NDEx NetworkKALRN
Atlas of Cancer Signalling NetworkKALRN
Wikipedia pathwaysKALRN
Orthology - Evolution
OrthoDB8997
Phylogenetic Trees/Animal Genes : TreeFamKALRN
HOVERGENO60229
HOGENOMO60229
Homologs : HomoloGeneKALRN
Homology/Alignments : Family Browser (UCSC)KALRN
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKALRN [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KALRN
dbVarKALRN
ClinVarKALRN
1000_GenomesKALRN 
Exome Variant ServerKALRN
ExAC (Exome Aggregation Consortium)KALRN (select the gene name)
Genetic variants : HAPMAP8997
Genomic Variants (DGV)KALRN [DGVbeta]
DECIPHER (Syndromes)3:123813528-124445172  
CONAN: Copy Number AnalysisKALRN 
Mutations
ICGC Data PortalKALRN 
TCGA Data PortalKALRN 
Broad Tumor PortalKALRN
OASIS PortalKALRN [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKALRN  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKALRN
BioMutasearch KALRN
DgiDB (Drug Gene Interaction Database)KALRN
DoCM (Curated mutations)KALRN (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KALRN (select a term)
intoGenKALRN
Cancer3DKALRN(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604605    608901   
Orphanet
MedgenKALRN
Genetic Testing Registry KALRN
NextProtO60229 [Medical]
TSGene8997
GENETestsKALRN
Huge Navigator KALRN [HugePedia]
snp3D : Map Gene to Disease8997
BioCentury BCIQKALRN
ClinGenKALRN
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8997
Chemical/Pharm GKB GenePA29189
Clinical trialKALRN
Miscellaneous
canSAR (ICR)KALRN (select the gene name)
Probes
Litterature
PubMed59 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKALRN
EVEXKALRN
GoPubMedKALRN
iHOPKALRN
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:11:24 CET 2017

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