KALRN (kalirin RhoGEF kinase)

Gene

• Entrez ID: 8997
• Gene name: Kalirin RhoGEF kinase
• Gene symbol: KALRN
• Synonyms: 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:0004674	Function	Protein serine/threonine kinase activity	TAS	10023074
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	EXP	12546821
GO:0005524	Function	ATP binding	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006468	Process	Protein phosphorylation	IEA
GO:0007165	Process	Signal transduction	TAS	9285789
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0007399	Process	Nervous system development	ISS
GO:0007411	Process	Axon guidance	IEA
GO:0007417	Process	Central nervous system development	IEA
GO:0007528	Process	Neuromuscular junction development	IEA
GO:0007595	Process	Lactation	IEA
GO:0007613	Process	Memory	IEA
GO:0008344	Process	Adult locomotory behavior	IEA
GO:0015629	Component	Actin cytoskeleton	TAS	10023074
GO:0016192	Process	Vesicle-mediated transport	TAS	9285789
GO:0035176	Process	Social behavior	IEA
GO:0035556	Process	Intracellular signal transduction	ISS
GO:0042711	Process	Maternal behavior	IEA
GO:0043065	Process	Positive regulation of apoptotic process	TAS
GO:0043547	Process	Positive regulation of GTPase activity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0046959	Process	Habituation	IEA
GO:0048013	Process	Ephrin receptor signaling pathway	TAS
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS
GO:0060125	Process	Negative regulation of growth hormone secretion	IEA
GO:0060137	Process	Maternal process involved in parturition	IEA
GO:0061003	Process	Positive regulation of dendritic spine morphogenesis	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0106310	Function	Protein serine kinase activity	IEA
GO:0106311	Function	Protein threonine 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

• 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

Causal
Disease name	Disease term	dbSNP ID	References
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243
Colorectal cancer	Colorectal Carcinoma	rs137854568, rs137854573, rs137854575, rs387906234, rs1801155, rs121908380, rs121908702, rs267606674, rs4939827, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800, rs63750198, rs63751109, rs863223312, rs63750710, rs63751615, rs63750206, rs63750781, rs63750899, rs63750691, rs63750217, rs121912965, rs63749939, rs63751194, rs63750693, rs63750540, rs63751221, rs193922370, rs80359596, rs397514632, rs483352909, rs200495564, rs397514684, rs397516436, rs398122386, rs79512956, rs74953290, rs587779001, rs63750677, rs63749837, rs267607816, rs63751715, rs267607819, rs267607815, rs267607822, rs63749906, rs587778883, rs63750472, rs63751012, rs63750715, rs63750580, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs63751015, rs63751153, rs63751094, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs587778909, rs63750713, rs267607825, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607832, rs267607837, rs267607836, rs587778923, rs63750028, rs587778928, rs587778929, rs587778930, rs63751277, rs587778933, rs267607842, rs267607843, rs63750192, rs587778934, rs63750193, rs587778937, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs267607853, rs267607856, rs267607850, rs63751657, rs267607854, rs267607852, rs587778942, rs63750309, rs63750587, rs63749863, rs63751486, rs63750016, rs63749868, rs63750375, rs63750035, rs63750604, rs63750386, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63751594, rs63750152, rs63750850, rs267607867, rs267607868, rs63751632, rs267607871, rs63751892, rs587778956, rs63750469, rs587778958, rs63749792, rs267607875, rs63751255, rs281864938, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs267607878, rs587778966, rs267607883, rs267607887, rs63750061, rs63750663, rs587778968, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607722, rs63750769, rs267607717, rs587778973, rs267607716, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63750499, rs63751642, rs63751022, rs587778981, rs63750971, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs63750437, rs587778997, rs587778998, rs63750005, rs63750641, rs63751421, rs11541859, rs63750266, rs111052004, rs267607726, rs267607727, rs63750453, rs267607734, rs267607735, rs63751665, rs267607736, rs267607732, rs63749816, rs63750539, rs267607739, rs587779006, rs587779008, rs267607745, rs267607742, rs63751595, rs267607743, rs587779010, rs587779012, rs63750057, rs63749818, rs63751124, rs587779014, rs587779015, rs63749820, rs63751302, rs267607750, rs267607751, rs267607749, rs63750891, rs63749959, rs63749804, rs267607765, rs267607760, rs587779021, rs267607759, rs63750515, rs587779023, rs63751021, rs63751480, rs267607772, rs267607773, rs587779024, rs63751653, rs587779027, rs267607767, rs587779029, rs63750706, rs63750385, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs63750823, rs63750822, rs267607787, rs63750303, rs63749839, rs63749827, rs267607789, rs267607790, rs267607791, rs267607786, rs267607771, rs267607795, rs267607794, rs267607788, rs267607799, rs267607801, rs587779045, rs63750034, rs587779047, rs63750216, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750547, rs63750489, rs63750993, rs587779054, rs63751259, rs63749926, rs63750796, rs587779058, rs63750745, rs63750582, rs180177084, rs587779866, rs200389141, rs587779950, rs587780104, rs587780183, rs587778536, rs587780683, rs587781554, rs267607712, rs587777627, rs587783057, rs730881734, rs41542214, rs730881273, rs786203456, rs786201990, rs786202767, rs748005072, rs786204317, rs786204318, rs797045117, rs63750549, rs863225383, rs863225384, rs863225373, rs863225376, rs863225377, rs863225378, rs863225379, rs863225380, rs863225381, rs63750059, rs267607823, rs864622457, rs869312767, rs869312753, rs876661059, rs876658915, rs876658923, rs876660860, rs876660822, rs876660458, rs876660214, rs876658657, rs876658247, rs876659226, rs876658821, rs876660589, rs876659068, rs876659681, rs876659608, rs878853794, rs878853778, rs878853780, rs878853785, rs886039423, rs886039424, rs1057517543, rs1057517541, rs756843954, rs1057517617, rs1057517558, rs1057519256, rs1060500689, rs764085979, rs1060500707, rs1060500699, rs1060500706, rs1060500703, rs1064795341, rs1064793607, rs1064794348, rs1064795441, rs1064794373, rs1064793172, rs1064794122, rs1064795515, rs1064794331, rs63750978, rs1114167435, rs1553641362, rs63751448, rs1553648029, rs1553648058, rs587778903, rs1553653237, rs1553664353, rs267607744, rs1553647995, rs1553648047, rs1553653084, rs1553663750, rs1553664436, rs1553488015, rs1553637293, rs63750310, rs63750443, rs63751596, rs1553646681, rs550890395, rs1064796057, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1434898623, rs1553665683, rs1553648068, rs1553645331, rs1553644123, rs1553658246, rs1553651299, rs1553648149, rs1553663159, rs1302248679, rs1553664119, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664617, rs1553664702, rs1553647969, rs1553648040, rs1437454428, rs1553641273, rs63751101, rs1553646764, rs1553648225, rs1554082118, rs1553648201, rs1553149467, rs1553638868, rs1553665866, rs376736188, rs1553642707, rs1553645226, rs1553652883, rs63751435, rs1553653115, rs1553653195, rs63750300, rs1553662622, rs1553658104, rs1553648220, rs1559544064, rs63750584, rs267608083, rs1559551570, rs1559575107, rs1559553501, rs1565986506, rs1559524405, rs1559553492, rs1559554339, rs1559588540, rs1559558071, rs761329565, rs1559521039, rs1559574795, rs1567221417, rs1559578422, rs1481129490, rs1570714352, rs779783209, rs1575376830, rs1575469070, rs1575537843, rs1575620443, rs1575621506, rs587779022, rs1575414904, rs1575449093, rs1575469505, rs1575536254, rs1575537933, rs1575632112, rs1575639851, rs1575441094, rs1575449402, rs267607831, rs2081922847, rs2083403132, rs2085415927, rs2085469647, rs2043913790, rs147542208
Diffuse lymphoma	Diffuse Large B-Cell Lymphoma	rs121912651, rs121913289, rs121913293, rs878854402, rs869025340, rs1349928568, rs1569115687, rs121913291	31407831
Narcolepsy	Narcolepsy	rs104894574, rs387906655	19629137
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	30285260, 28991256

Unknown
Disease name	Disease term	dbSNP ID	References
B-cell lymphoma	Marginal Zone B-Cell Lymphoma		31407831
Lupus erythematosus	Lupus Erythematosus, Systemic		31407831
Mental depression	Unipolar Depression, Major Depressive Disorder	rs587778876, rs587778877	25224588