KALRN (kalirin RhoGEF kinase)

Gene

• Entrez ID: 8997
• Gene name: Kalirin RhoGEF kinase
• Gene symbol: KALRN
• Synonyms (NCBI Gene): ARHGEF24, CHD5, CHDS5, DUET, DUO, HAPIP, KALNC2, TRAD
• Chromosome: 3
• Chromosome location: 3q21.1-q21.2
• Summary: 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 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

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
MIRT613203	hsa-miR-4436a	HITS-CLIP	23824327
MIRT613202	hsa-miR-5000-3p	HITS-CLIP	23824327
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
MIRT613203	hsa-miR-4436a	HITS-CLIP	23824327
MIRT613202	hsa-miR-5000-3p	HITS-CLIP	23824327
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
MIRT613203	hsa-miR-4436a	HITS-CLIP	23824327
MIRT613202	hsa-miR-5000-3p	HITS-CLIP	23824327
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
MIRT613203	hsa-miR-4436a	HITS-CLIP	23824327
MIRT613202	hsa-miR-5000-3p	HITS-CLIP	23824327
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
MIRT613203	hsa-miR-4436a	HITS-CLIP	23824327
MIRT613202	hsa-miR-5000-3p	HITS-CLIP	23824327
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
MIRT613203	hsa-miR-4436a	HITS-CLIP	23824327
MIRT613202	hsa-miR-5000-3p	HITS-CLIP	23824327
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
MIRT613203	hsa-miR-4436a	HITS-CLIP	23824327
MIRT613202	hsa-miR-5000-3p	HITS-CLIP	23824327
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
MIRT613203	hsa-miR-4436a	HITS-CLIP	23824327
MIRT613202	hsa-miR-5000-3p	HITS-CLIP	23824327
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
MIRT613203	hsa-miR-4436a	HITS-CLIP	23824327
MIRT613202	hsa-miR-5000-3p	HITS-CLIP	23824327
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
MIRT624360	hsa-miR-5000-5p	HITS-CLIP	23824327
MIRT613203	hsa-miR-4436a	HITS-CLIP	23824327
MIRT613202	hsa-miR-5000-3p	HITS-CLIP	23824327
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
MIRT613203	hsa-miR-4436a	HITS-CLIP	23824327
MIRT613202	hsa-miR-5000-3p	HITS-CLIP	23824327
MIRT615088	hsa-miR-6851-3p	HITS-CLIP	23824327
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
MIRT613203	hsa-miR-4436a	HITS-CLIP	23824327
MIRT613202	hsa-miR-5000-3p	HITS-CLIP	23824327
MIRT496986	hsa-miR-4690-3p	PAR-CLIP	22291592
MIRT496985	hsa-miR-5685	PAR-CLIP	22291592
MIRT496984	hsa-miR-186-3p	PAR-CLIP	22291592
MIRT735137	hsa-miR-15b-5p	Microarray, qRT-PCR, Flow cytometry	32661467
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
MIRT613203	hsa-miR-4436a	HITS-CLIP	23824327
MIRT613202	hsa-miR-5000-3p	HITS-CLIP	23824327
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
MIRT613203	hsa-miR-4436a	HITS-CLIP	23824327
MIRT613202	hsa-miR-5000-3p	HITS-CLIP	23824327
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
MIRT613203	hsa-miR-4436a	HITS-CLIP	23824327
MIRT613202	hsa-miR-5000-3p	HITS-CLIP	23824327
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
MIRT613203	hsa-miR-4436a	HITS-CLIP	23824327
MIRT613202	hsa-miR-5000-3p	HITS-CLIP	23824327
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
MIRT613203	hsa-miR-4436a	HITS-CLIP	23824327
MIRT613202	hsa-miR-5000-3p	HITS-CLIP	23824327
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
MIRT613203	hsa-miR-4436a	HITS-CLIP	23824327
MIRT613202	hsa-miR-5000-3p	HITS-CLIP	23824327
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
MIRT613203	hsa-miR-4436a	HITS-CLIP	23824327
MIRT613202	hsa-miR-5000-3p	HITS-CLIP	23824327
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
MIRT613203	hsa-miR-4436a	HITS-CLIP	23824327
MIRT613202	hsa-miR-5000-3p	HITS-CLIP	23824327
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
MIRT613203	hsa-miR-4436a	HITS-CLIP	23824327
MIRT613202	hsa-miR-5000-3p	HITS-CLIP	23824327
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
MIRT624360	hsa-miR-5000-5p	HITS-CLIP	23824327
MIRT613203	hsa-miR-4436a	HITS-CLIP	23824327
MIRT613202	hsa-miR-5000-3p	HITS-CLIP	23824327
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
MIRT613203	hsa-miR-4436a	HITS-CLIP	23824327
MIRT613202	hsa-miR-5000-3p	HITS-CLIP	23824327
MIRT615088	hsa-miR-6851-3p	HITS-CLIP	23824327
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
MIRT613203	hsa-miR-4436a	HITS-CLIP	23824327
MIRT613202	hsa-miR-5000-3p	HITS-CLIP	23824327
MIRT496986	hsa-miR-4690-3p	PAR-CLIP	22291592
MIRT496985	hsa-miR-5685	PAR-CLIP	22291592
MIRT496984	hsa-miR-186-3p	PAR-CLIP	22291592
MIRT1078433	hsa-miR-3157-3p	CLIP-seq
MIRT1078434	hsa-miR-3921	CLIP-seq
MIRT1078435	hsa-miR-4290	CLIP-seq
MIRT1078436	hsa-miR-4303	CLIP-seq
MIRT1078437	hsa-miR-4423-5p	CLIP-seq
MIRT1078438	hsa-miR-4653-5p	CLIP-seq
MIRT1078439	hsa-miR-874	CLIP-seq
MIRT1078440	hsa-miR-103a	CLIP-seq
MIRT1078441	hsa-miR-107	CLIP-seq
MIRT1078442	hsa-miR-1272	CLIP-seq
MIRT1078443	hsa-miR-15a	CLIP-seq
MIRT1078444	hsa-miR-15b	CLIP-seq
MIRT1078445	hsa-miR-16	CLIP-seq
MIRT1078446	hsa-miR-181a	CLIP-seq
MIRT1078447	hsa-miR-181b	CLIP-seq
MIRT1078448	hsa-miR-181c	CLIP-seq
MIRT1078449	hsa-miR-181d	CLIP-seq
MIRT1078450	hsa-miR-195	CLIP-seq
MIRT1078451	hsa-miR-203	CLIP-seq
MIRT1078452	hsa-miR-23a	CLIP-seq
MIRT1078453	hsa-miR-23b	CLIP-seq
MIRT1078454	hsa-miR-23c	CLIP-seq
MIRT1078455	hsa-miR-3973	CLIP-seq
MIRT1078456	hsa-miR-424	CLIP-seq
MIRT1078457	hsa-miR-4262	CLIP-seq
MIRT1078458	hsa-miR-4282	CLIP-seq
MIRT1078459	hsa-miR-431	CLIP-seq
MIRT1078460	hsa-miR-4310	CLIP-seq
MIRT1078461	hsa-miR-4699-3p	CLIP-seq
MIRT1078462	hsa-miR-4704-3p	CLIP-seq
MIRT1078463	hsa-miR-4757-5p	CLIP-seq
MIRT1078464	hsa-miR-4789-5p	CLIP-seq
MIRT1078465	hsa-miR-497	CLIP-seq
MIRT1078466	hsa-miR-513a-3p	CLIP-seq
MIRT1078467	hsa-miR-520g	CLIP-seq
MIRT1078468	hsa-miR-520h	CLIP-seq
MIRT1078469	hsa-miR-582-5p	CLIP-seq
MIRT1078470	hsa-miR-622	CLIP-seq
MIRT1078471	hsa-miR-7	CLIP-seq
MIRT1078472	hsa-miR-944	CLIP-seq
MIRT1921783	hsa-miR-4778-3p	CLIP-seq
MIRT1921783	hsa-miR-4778-3p	CLIP-seq
MIRT1921783	hsa-miR-4778-3p	CLIP-seq
MIRT2251374	hsa-miR-3182	CLIP-seq
MIRT2251375	hsa-miR-3686	CLIP-seq
MIRT2251376	hsa-miR-4325	CLIP-seq
MIRT1921783	hsa-miR-4778-3p	CLIP-seq
MIRT2251377	hsa-miR-495	CLIP-seq
MIRT1921783	hsa-miR-4778-3p	CLIP-seq
MIRT1921783	hsa-miR-4778-3p	CLIP-seq
MIRT2554658	hsa-miR-141	CLIP-seq
MIRT2554659	hsa-miR-200a	CLIP-seq
MIRT2554660	hsa-miR-224	CLIP-seq
MIRT2554661	hsa-miR-3117-5p	CLIP-seq
MIRT2554662	hsa-miR-33a	CLIP-seq
MIRT2554663	hsa-miR-33b	CLIP-seq
MIRT2554664	hsa-miR-4461	CLIP-seq
MIRT2554665	hsa-miR-4724-5p	CLIP-seq
MIRT2683143	hsa-miR-1248	CLIP-seq
MIRT1078433	hsa-miR-3157-3p	CLIP-seq
MIRT2251374	hsa-miR-3182	CLIP-seq
MIRT2683144	hsa-miR-4539	CLIP-seq
MIRT2683145	hsa-miR-4659a-3p	CLIP-seq
MIRT2683146	hsa-miR-4659b-3p	CLIP-seq
MIRT1921783	hsa-miR-4778-3p	CLIP-seq
MIRT1078439	hsa-miR-874	CLIP-seq
MIRT2683147	hsa-miR-938	CLIP-seq

Gene ontology (GO)

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
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	TAS	9285789
GO:0005515	Function	Protein binding	IPI	23284848, 36217029
GO:0005524	Function	ATP binding	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0006468	Process	Protein phosphorylation	TAS	10023074
GO:0007165	Process	Signal transduction	TAS	9285789
GO:0007399	Process	Nervous system development	ISS
GO:0007411	Process	Axon guidance	IBA
GO:0014069	Component	Postsynaptic density	IBA
GO:0015629	Component	Actin cytoskeleton	TAS	10023074
GO:0016192	Process	Vesicle-mediated transport	TAS	9285789
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019898	Component	Extrinsic component of membrane	IBA
GO:0035556	Process	Intracellular signal transduction	IBA
GO:0035556	Process	Intracellular signal transduction	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0048013	Process	Ephrin receptor signaling pathway	TAS
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0106310	Function	Protein serine kinase activity	IEA

Other IDs

• MIM: 604605
• HGNC: 4814
• e!Ensembl: 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
  EEWIELRLSLEEFFNSAVHLLSRLEDLQEMLARKEFPVDVEGSRRLIDEHTQLKKKVLKA
  PVEELDREGQRLLQCIRCSDGFSGRNCIPGSADFQSLVPKITSLLDKLHSTRQHLHQMWH
  VRKLKLDQCFQLRLFEQDAEKMFDWISHNKELFLQSHTEIGVSYQYALDLQTQHNHFAMN
  SMNAYVNINRIMSVASRLSEAGHYASQQIKQISTQLDQEWKSFAAALDERSTILAMSAVF
  HQKAEQFLSGVDAWCKMCSEGGLPSEMQDLELAIHHHQTLYEQVTQAYTEVSQDGKALLD
  VLQRPLSPGNSESLTATANYSKAVHQVLDVVHEVLHHQRRLESIWQHRKVRLHQRLQLCV
  FQQDVQQVLDWIENHGEAFLSKHTGVGKSLHRARALQKRHDDFEEVAQNTYTNADKLLEA
  AEQLAQTGECDPEEIYKAARHLEVRIQDFVRRVEQRKLLLDMSVSFHTHTKELWTWMEDL
  QKEMLEDVCADSVDAVQELIKQFQQQQTATLDATLNVIKEGEDLIQQLRSAPPSLGEPSE
  ARDSAVSNNKTPHSSSISHIESVLQQLDDAQVQMEELFHERKIKLDIFLQLRIFEQYTIE
  VTAELDAWNEDLLRQMNDFNTEDLTLAEQRLQRHTERKLAMNNMTFEVIQQGQDLHQYIT
  EVQASGIELICEKDIDLAAQVQELLEFLHEKQHELELNAEQTHKRLEQCLQLRHLQAEVK
  QVLGWIRNGESMLNASLVNASSLSEAEQLQREHEQFQLAIESLFHATSLQKTHQSALQVQ
  QKAEVLLQAGHYDADAIRECAEKVALHWQQLMLKMEDRLKLVNASVAFYKTSEQVCSVLE
  SLEQEYRRDEDWCGGRDKLGPAAEIDHVIPLISKHLEQKEAFLKACTLARRNAEVFLKYI
  HRNNVSMPSVASHTRGPEQQVKAILSELLQRENRVLHFWTLKKRRLDQCQQYVVFERSAK
  QALDWIQETGEFYLSTHTSTGETTEETQELLKEYGEFRVPAKQTKEKVKLLIQLADSFVE
  KGHIHATEIRKWVTTVDKHYRDFSLRMGKYRYSLEKALGVNTEDNKDLELDIIPASLSDR
  EVKLRDANHEVNEEKRKSARKKEFIMAELLQTEKAYVRDLHECLETYLWEMTSGVEEIPP
  GILNKEHIIFGNIQEIYDFHNNIFLKELEKYEQLPEDVGHCFVTWADKFQMYVTYCKNKP
  DSNQLILEHAGTFFDEIQQRHGLANSISSYLIKPVQRITKYQLLLKELLTCCEEGKGELK
  DGLEVMLSVPKKANDAMHVSMLEGFDENLDVQGELILQDAFQVWDPKSLIRKGRERHLFL
  FEISLVFSKEIKDSSGHTKYVYKNKLLTSELGVTEHVEGDPCKFALWSGRTPSSDNKTVL
  KASNIETKQEWIKNIREVIQERIIHLKGALKEPLQLPKTPAKQRNNSKRDGVEDIDSQGD
  GSSQPDTISIASRTSQNTVDSDKLSGGCELTVVLQDFSAGHSSELTIQVGQTVELLERPS
  ERPGWCLVRTTERSPPLEGLVPSSALCISHSRSSVEMDCFFPLVKDAYSHSSSENGGKSE
  SVANLQAQPSLNSIHSSPGPKRSTNTLKKWLTSPVRRLNSGKADGNIKKQKKVRDGRKSF
  DLGSPKPGDETTPQGDSADEKSKKGWGEDEPDEESHTPLPPPMKIFDNDPTQDEMSSSLL
  AARQASTEVPTAADLVNAIEKLVKNKLSLEGSSYRGSLKDPAGCLNEGMAPPTPPKNPEE
  EQKAKALRGRMFVLNELVQTEKDYVKDLGIVVEGFMKRIEEKGVPEDMRGKDKIVFGNIH
  QIYDWHKDFFLAELEKCIQEQDRLAQLFIKHERKLHIYVWYCQNKPRSEYIVAEYDAYFE
  EVKQEINQRLTLSDFLIKPIQRITKYQLLLKDFLRYSEKAGLECSDIEKAVELMCLVPKR
  CNDMMNLGRLQGFEGTLTAQGKLLQQDTFYVIELDAGMQSRTKERRVFLFEQIVIFSELL
  RKGSLTPGYMFKRSIKMNYLVLEENVDNDPCKFALMNRETSERVVLQAANADIQQAWVQD
  INQVLETQRDFLNALQSPIEYQRKERSTAVMRSQPARLPQASPRPYSSVPAGSEKPPKGS
  SYNPPLPPLKISTSNGSPGFEYHQPGDKFEASKQNDLGGCNGTSSMAVIKDYYALKENEI
  CVSQGEVVQVLAVNQQNMCLVYQPASDHSPAAEGWVPGSILAPLTKATAAESSDGSIKKS
  CSWHTLRMRKRAEVENTGKNEATGPRKPKDILGNKVSVKETNSSEESECDDLDPNTSMEI
  LNPNFIQEVAPEFLVPLVDVTCLLGDTVILQCKVCGRPKPTITWKGPDQNILDTDNSSAT
  YTVSSCDSGEITLKICNLMPQDSGIYTCIATNDHGTTSTSATVKVQGVPAAPNRPIAQER
  SCTSVILRWLPPSSTGNCTISGYTVEYREEGSQIWQQSVASTLDTYLVIEDLSPGCPYQF
  RVSASNPWGISLPSEPSEFVRLPEYDAAADGATISWKENFDSAYTELNEIGRGRFSIVKK
  CIHKATRKDVAVKFVSKKMKKKEQAAHEAALLQHLQHPQYITLHDTYESPTSYILILELM
  DDGRLLDYLMNHDELMEEKVAFYIRDIMEALQYLHNCRVAHLDIKPENLLIDLRIPVPRV
  KLIDLEDAVQISGHFHIHHLLGNPEFAAPEVIQGIPVSLGTDIWSIGVLTYVMLSGVSPF
  LDESKEETCINVCRVDFSFPHEYFCGVSNAARDFINVILQEDFRRRPTAATCLQHPWLQP
  HNGSYSKIPLDTSRLACFIERRKHQNDVRPIPNVKSYIVNRVNQGT

• Sequence length: 2986

Pathways

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

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL ATHEROSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL INFARCTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERIOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease, susceptibility to, 5	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIFFUSE LARGE B-CELL LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENERALIZED ANXIETY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KALRN-related disorder	Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEPROSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROBLASTOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODONTAL DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODONTITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROLANDIC EPILEPSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	22429885	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	18057561		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	25917671		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	23046476		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	23046476	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	17357071	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	25917671		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	18839057		★☆☆☆☆ Found in Text Mining only
Bicuspid Aortic Valve Disease	Bicuspid aortic valve	Pubtator	36071494	Associate	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	29484035	Associate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Brain ischemia	Pubtator	20107840	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23380069	Associate	★☆☆☆☆ Found in Text Mining only
Cardioembolic stroke	Cardioembolic Stroke	BEFREE	21664346		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	28706949		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	28706949	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	20107840, 28706949	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Palsy	Cerebral palsy	Pubtator	29484035	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	20107840, 25917671		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	28152519	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	17357071, 25316661, 25917671		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	BEFREE	17357071, 25316661, 25917671, 27218147		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	LHGDN	17357071		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	17357071, 19706030	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	17357071, 25316661, 25917671		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Degenerative polyarthritis	Arthritis	BEFREE	30816583		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	20107840, 32075680	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	27218147		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	GWASCAT_DG	31407831		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dwarfism	Dwarfism	BEFREE	27421267		★☆☆☆☆ Found in Text Mining only
Epilepsy Rolandic	Rolandic epilepsy	Pubtator	32580138	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	35899307	Associate	★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	37466726	Stimulate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	27421267	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	22548195, 22720673		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	22720673	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	20107840, 28152519, 32227373	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	20107840		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	27421267		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	27421267	Associate	★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	31277101		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	20107840, 21664346, 25917671, 28706949, 30232674		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	29202008		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASCAT_DG	31407831		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	25224588		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	PSYGENET_DG	25224588		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29202008, 8130720		★☆☆☆☆ Found in Text Mining only
Marginal Zone B-Cell Lymphoma	B-Cell Lymphoma	GWASCAT_DG	31407831		★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29202008		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	33658318	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	31801062		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	28319837		★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	28893757		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	22429885	Inhibit	★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	28319837		★☆☆☆☆ Found in Text Mining only
Rotator cuff syndrome	Rotator cuff syndrome	BEFREE	30424787		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	29554915		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoidosis	Sarcoidosis	Pubtator	29554915	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	21041834, 28319837, 28418645, 28442991, 28535798, 29241584		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	28991256, 30285260		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Small Lymphocytic Lymphoma	Lymphocytic Leukemia	BEFREE	30287523		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	29879932	Associate	★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	25224588		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	PSYGENET_DG	25224588		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular Diseases	Vascular Diseases	BEFREE	20107840		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	28152519	Associate	★☆☆☆☆ Found in Text Mining only