Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8997
Gene name Gene Name - the full gene name approved by the HGNC.
Kalirin RhoGEF kinase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KALRN
Synonyms (NCBI Gene) Gene synonyms aliases
ARHGEF24, CHD5, CHDS5, DUET, DUO, HAPIP, KALNC2, TRAD
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q21.1-q21.2
Summary Summary of gene provided in NCBI Entrez 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 p
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs9289231 T>G Pathogenic Intron variant, genic upstream transcript variant
rs1578498572 A>G Likely-pathogenic Genic downstream transcript variant, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT018300 hsa-miR-335-5p Microarray 18185580
MIRT613207 hsa-miR-362-3p HITS-CLIP 23824327
MIRT613206 hsa-miR-329-3p HITS-CLIP 23824327
MIRT613205 hsa-miR-1197 HITS-CLIP 23824327
MIRT613204 hsa-miR-8485 HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004672 Function Protein kinase activity IEA
GO:0004674 Function Protein serine/threonine kinase activity IEA
GO:0004674 Function Protein serine/threonine kinase activity TAS 10023074
GO:0005085 Function Guanyl-nucleotide exchange factor activity EXP 12546821
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604605 4814 ENSG00000160145
Protein
UniProt ID O60229
Protein name Kalirin (EC 2.7.11.1) (Huntingtin-associated protein-interacting protein) (Protein Duo) (Serine/threonine-protein kinase with Dbl- and pleckstrin homology domain)
Protein 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 lamel
PDB 5QQD , 5QQE , 5QQF , 5QQG , 5QQH , 5QQI , 5QQJ , 5QQK , 5QQL , 5QQM , 5QQN , 5QU9 , 8C7D
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13716 CRAL_TRIO_2 54 230 Divergent CRAL/TRIO domain Domain
PF00435 Spectrin 310 416 Spectrin repeat Domain
PF00435 Spectrin 536 642 Spectrin repeat Domain
PF00435 Spectrin 890 1003 Spectrin repeat Domain
PF00435 Spectrin 1130 1236 Spectrin repeat Domain
PF00621 RhoGEF 1285 1457 RhoGEF domain Domain
PF00169 PH 1471 1580 PH domain Domain
PF16609 SH3-RhoG_link 1705 1911 Disordered
PF00621 RhoGEF 1933 2102 RhoGEF domain Domain
PF07679 I-set 2471 2565 Immunoglobulin I-set domain Domain
PF00041 fn3 2570 2654 Fibronectin type III domain Domain
PF00069 Pkinase 2684 2938 Protein kinase domain Domain
Tissue specificity 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. {ECO:0000269|PubMed:1002307
Sequence
MTDRFWDQWYLWYLRLLRLLDRGSFRNDGLKASDVLPILKEKVAFVSGGRDKRGGPILTF
PARSNHDRIRQEDLRKLVTYLASVPSEDVCKRGFTVIIDMRGSKWDLIKPLLKTLQEAFP
AEIHVALIIKPDNFWQKQKTNFGSSKFIFETSMVSVEGLTKLVDPSQLTEEFDGSLDYNH
EEWIELRLSLEEFFNSAVHLLSRLEDLQEMLARKEFPVDVEGSRRLIDEH
TQLKKKVLKA
PVEELDREGQRLLQCIRCSDGFSGRNCIPGSADFQSLVPKITSLLDKLHSTRQHLHQMWH
VRKLKLDQCFQLRLFEQDAEKMFDWISHNKELFLQSHTEIGVSYQYALDLQTQHNHFAMN
SMNAYVNINRIMSVASRLSEAGHYASQQIKQISTQLDQEWKSFAAALDERSTILAM
SAVF
HQKAEQFLSGVDAWCKMCSEGGLPSEMQDLELAIHHHQTLYEQVTQAYTEVSQDGKALLD
VLQRPLSPGNSESLTATANYSKAVHQVLDVVHEVLHHQRRLESIWQHRKVRLHQRLQLCV
FQQDVQQVLDWIENHGEAFLSKHTGVGKSLHRARALQKRHDDFEEVAQNTYTNADKLLEA
AEQLAQTGECDPEEIYKAARHLEVRIQDFVRRVEQRKLLLDM
SVSFHTHTKELWTWMEDL
QKEMLEDVCADSVDAVQELIKQFQQQQTATLDATLNVIKEGEDLIQQLRSAPPSLGEPSE
ARDSAVSNNKTPHSSSISHIESVLQQLDDAQVQMEELFHERKIKLDIFLQLRIFEQYTIE
VTAELDAWNEDLLRQMNDFNTEDLTLAEQRLQRHTERKLAMNNMTFEVIQQGQDLHQYIT
EVQASGIELICEKDIDLAAQVQELLEFLHEKQHELELNAEQTHKRLEQCLQLRHLQAEVK
QVLGWIRNGESMLNASLVNASSLSEAEQLQREHEQFQLAIESLFHATSLQKTHQSALQVQ
QKAEVLLQAGHYDADAIRECAEKVALHWQQLMLKMEDRLKLVN
ASVAFYKTSEQVCSVLE
SLEQEYRRDEDWCGGRDKLGPAAEIDHVIPLISKHLEQKEAFLKACTLARRNAEVFLKYI
HRNNVSMPSVASHTRGPEQQVKAILSELLQRENRVLHFWTLKKRRLDQCQQYVVFERSAK
QALDWIQETGEFYLSTHTSTGETTEETQELLKEYGEFRVPAKQTKEKVKLLIQLADSFVE
KGHIHATEIRKWVTTVDKHYRDFSLRMGKYRYSLEK
ALGVNTEDNKDLELDIIPASLSDR
EVKLRDANHEVNEEKRKSARKKEFIMAELLQTEKAYVRDLHECLETYLWEMTSGVEEIPP
GILNKEHIIFGNIQEIYDFHNNIFLKELEKYEQLPEDVGHCFVTWADKFQMYVTYCKNKP
DSNQLILEHAGTFFDEIQQRHGLANSISSYLIKPVQRITKYQLLLKELLTCCEEGKGELK
DGLEVMLSVPKKANDAM
HVSMLEGFDENLDVQGELILQDAFQVWDPKSLIRKGRERHLFL
FEISLVFSKEIKDSSGHTKYVYKNKLLTSELGVTEHVEGDPCKFALWSGRTPSSDNKTVL
KASNIETKQEWIKNIREVIQ
ERIIHLKGALKEPLQLPKTPAKQRNNSKRDGVEDIDSQGD
GSSQPDTISIASRTSQNTVDSDKLSGGCELTVVLQDFSAGHSSELTIQVGQTVELLERPS
ERPGWCLVRTTERSPPLEGLVPSSALCISHSRSSVEMDCFFPLVKDAYSHSSSENGGKSE
SVANLQAQPSLNSIHSSPGPKRSTNTLKKWLTSPVRRLNSGKADGNIKKQKKVRDGRKSF
DLGSPKPGDETTPQGDSADEKSKKGWGEDEPDEESHTPLPPPMKIFDNDPTQDEMSSSLL
AARQASTEVPTAADLVNAIEKLVKNKLSLEGSSYRGSLKDPAGCLNEGMAP
PTPPKNPEE
EQKAKALRGRMFVLNELVQTEKDYVKDLGIVVEGFMKRIEEKGVPEDMRGKDKIVFGNIH
QIYDWHKDFFLAELEKCIQEQDRLAQLFIKHERKLHIYVWYCQNKPRSEYIVAEYDAYFE
EVKQEINQRLTLSDFLIKPIQRITKYQLLLKDFLRYSEKAGLECSDIEKAVELMCLVPKR
CN
DMMNLGRLQGFEGTLTAQGKLLQQDTFYVIELDAGMQSRTKERRVFLFEQIVIFSELL
RKGSLTPGYMFKRSIKMNYLVLEENVDNDPCKFALMNRETSERVVLQAANADIQQAWVQD
INQVLETQRDFLNALQSPIEYQRKERSTAVMRSQPARLPQASPRPYSSVPAGSEKPPKGS
SYNPPLPPLKISTSNGSPGFEYHQPGDKFEASKQNDLGGCNGTSSMAVIKDYYALKENEI
CVSQGEVVQVLAVNQQNMCLVYQPASDHSPAAEGWVPGSILAPLTKATAAESSDGSIKKS
CSWHTLRMRKRAEVENTGKNEATGPRKPKDILGNKVSVKETNSSEESECDDLDPNTSMEI
LNPNFIQEVAPEFLVPLVDVTCLLGDTVILQCKVCGRPKPTITWKGPDQNILDTDNSSAT
YTVSSCDSGEITLKICNLMPQDSGIYTCIATNDHGTTSTSATVKV
QGVPAAPNRPIAQER
SCTSVILRWLPPSSTGNCTISGYTVEYREEGSQIWQQSVASTLDTYLVIEDLSPGCPYQF
RVSASNPWGISLPS
EPSEFVRLPEYDAAADGATISWKENFDSAYTELNEIGRGRFSIVKK
CIHKATRKDVAVKFVSKKMKKKEQAAHEAALLQHLQHPQYITLHDTYESPTSYILILELM
DDGRLLDYLMNHDELMEEKVAFYIRDIMEALQYLHNCRVAHLDIKPENLLIDLRIPVPRV
KLIDLEDAVQISGHFHIHHLLGNPEFAAPEVIQGIPVSLGTDIWSIGVLTYVMLSGVSPF
LDESKEETCINVCRVDFSFPHEYFCGVSNAARDFINVILQEDFRRRPTAATCLQHPWL
QP
HNGSYSKIPLDTSRLACFIERRKHQNDVRPIPNVKSYIVNRVNQGT
Sequence length 2986
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    NRAGE signals death through JNK
Rho GTPase cycle
EPHB-mediated forward signaling
G alpha (q) signalling events
G alpha (12/13) signalling events
MAPK6/MAPK4 signaling
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis N/A N/A GWAS
Coronary Heart Disease Coronary heart disease, susceptibility to, 5 N/A N/A ClinVar
Glaucoma Glaucoma N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Albuminuria Associate 28152519
Alzheimer Disease Inhibit 22429885
Asthma Associate 23046476
Atherosclerosis Associate 17357071
Bicuspid Aortic Valve Disease Associate 36071494
Brain Diseases Associate 29484035
Brain Ischemia Associate 20107840
Breast Neoplasms Associate 23380069
Cardiovascular Diseases Associate 28706949
Cerebral Infarction Associate 20107840, 28706949