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ALS2 (alsin Rho guanine nucleotide exchange factor ALS2)

Gene

Alsin Rho guanine nucleotide exchange factor ALS2

ALS2

ALS2CR6, ALSJ, IAHSP, PLSJ

2

2q33.1

The protein encoded by this gene contains an ATS1/RCC1-like domain, a RhoGEF domain, and a vacuolar protein sorting 9 (VPS9) domain, all of which are guanine-nucleotide exchange factors that activate members of the Ras superfamily of GTPases. The protein

Show/Hide all(49)

SNP ID	Visualize variation	Clinical significance	Consequence
rs61745503	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs61757691	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant
rs121908137	G>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic downstream transcript variant, synonymous variant
rs121908138	C>T	Pathogenic	Non coding transcript variant, upstream transcript variant, coding sequence variant, missense variant, genic upstream transcript variant
rs121908139	G>A	Pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, stop gained, genic downstream transcript variant
rs185911369	G>A	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs190369242	G>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, upstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs202219507	T>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs369577952	A>C,G	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, stop gained, genic downstream transcript variant, non coding transcript variant, synonymous variant, upstream transcript variant, coding sequence variant
rs386134173	T>-	Pathogenic	Genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs386134174	T>-	Pathogenic	Upstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs386134175	AT>-	Pathogenic	Genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs386134176	CT>-	Pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs386134178	C>T	Pathogenic	Missense variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant, genic downstream transcript variant
rs386134179	->ACTGC	Pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs386134180	C>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, stop gained
rs386134181	AG>-	Pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs386134182	T>A	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs386134183	AT>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, frameshift variant
rs386134184	T>C	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs386134185	C>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, frameshift variant
rs386134186	C>G	Pathogenic	Intron variant, genic downstream transcript variant
rs386134187	T>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, stop gained
rs386134188	A>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, frameshift variant
rs387906316	C>A	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs587777132	G>A,T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, synonymous variant, stop gained, non coding transcript variant, coding sequence variant
rs730882255	C>A	Pathogenic	Genic downstream transcript variant, 5 prime UTR variant, stop gained, non coding transcript variant, coding sequence variant
rs730882256	->C	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs746255868	G>A	Likely-pathogenic	Genic upstream transcript variant, stop gained, non coding transcript variant, coding sequence variant, upstream transcript variant
rs757972700	T>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs761291489	C>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs767350733	G>A	Pathogenic, likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs797044934	G>A	Pathogenic	Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs863225293	G>A	Likely-pathogenic, pathogenic	Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs863225294	G>T	Likely-pathogenic, pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant, genic downstream transcript variant
rs878855058	CTCT>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant, genic downstream transcript variant
rs1057523547	C>G,T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic upstream transcript variant, missense variant, upstream transcript variant
rs1057524355	C>G	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1060503672	C>T	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1064793583	CTTT>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic upstream transcript variant, upstream transcript variant
rs1064797281	C>T	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant, genic downstream transcript variant
rs1553506317	->GTGCGTGGAG	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553511680	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs1574655402	C>-	Likely-pathogenic	Splice acceptor variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1574698048	C>A	Pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1574748038	C>A	Likely-pathogenic	Non coding transcript variant, stop gained, genic downstream transcript variant, 5 prime UTR variant, coding sequence variant
rs1574786170	CTGACAGT>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs1574786641	G>-	Pathogenic	Non coding transcript variant, stop gained, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs1574787779	G>A	Pathogenic, likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, stop gained, coding sequence variant, upstream transcript variant

Show/Hide all(179)

miRTarBase ID	miRNA	Experiments	Reference
MIRT047362	hsa-miR-34a-5p	CLASH	23622248
MIRT038866	hsa-miR-93-3p	CLASH	23622248
MIRT036325	hsa-miR-1229-3p	CLASH	23622248
MIRT779185	hsa-miR-203	CLIP-seq
MIRT779186	hsa-miR-205	CLIP-seq
MIRT779187	hsa-miR-21	CLIP-seq
MIRT779188	hsa-miR-216a	CLIP-seq
MIRT779189	hsa-miR-216b	CLIP-seq
MIRT779190	hsa-miR-23a	CLIP-seq
MIRT779191	hsa-miR-23b	CLIP-seq
MIRT779192	hsa-miR-23c	CLIP-seq
MIRT779193	hsa-miR-3122	CLIP-seq
MIRT779194	hsa-miR-3192	CLIP-seq
MIRT779195	hsa-miR-362-5p	CLIP-seq
MIRT779196	hsa-miR-3689a-3p	CLIP-seq
MIRT779197	hsa-miR-3689c	CLIP-seq
MIRT779198	hsa-miR-369-3p	CLIP-seq
MIRT779199	hsa-miR-374a	CLIP-seq
MIRT779200	hsa-miR-374b	CLIP-seq
MIRT779201	hsa-miR-3913-5p	CLIP-seq
MIRT779202	hsa-miR-3929	CLIP-seq
MIRT779203	hsa-miR-4263	CLIP-seq
MIRT779204	hsa-miR-4419b	CLIP-seq
MIRT779205	hsa-miR-4478	CLIP-seq
MIRT779206	hsa-miR-4494	CLIP-seq
MIRT779207	hsa-miR-4683	CLIP-seq
MIRT779208	hsa-miR-4724-3p	CLIP-seq
MIRT779209	hsa-miR-4728-5p	CLIP-seq
MIRT779210	hsa-miR-4799-5p	CLIP-seq
MIRT779211	hsa-miR-485-5p	CLIP-seq
MIRT779212	hsa-miR-490-3p	CLIP-seq
MIRT779213	hsa-miR-499a-5p	CLIP-seq
MIRT779214	hsa-miR-500b	CLIP-seq
MIRT779215	hsa-miR-501-5p	CLIP-seq
MIRT779216	hsa-miR-548c-3p	CLIP-seq
MIRT779217	hsa-miR-576-5p	CLIP-seq
MIRT779218	hsa-miR-590-5p	CLIP-seq
MIRT779219	hsa-miR-1323	CLIP-seq
MIRT779220	hsa-miR-145	CLIP-seq
MIRT779221	hsa-miR-1825	CLIP-seq
MIRT779222	hsa-miR-186	CLIP-seq
MIRT779223	hsa-miR-199a-5p	CLIP-seq
MIRT779224	hsa-miR-199b-5p	CLIP-seq
MIRT779225	hsa-miR-3133	CLIP-seq
MIRT779226	hsa-miR-3137	CLIP-seq
MIRT779227	hsa-miR-3155	CLIP-seq
MIRT779228	hsa-miR-3155b	CLIP-seq
MIRT779229	hsa-miR-3202	CLIP-seq
MIRT779230	hsa-miR-4427	CLIP-seq
MIRT779231	hsa-miR-4452	CLIP-seq
MIRT779232	hsa-miR-4476	CLIP-seq
MIRT779233	hsa-miR-4639-3p	CLIP-seq
MIRT779234	hsa-miR-4680-3p	CLIP-seq
MIRT779235	hsa-miR-4769-3p	CLIP-seq
MIRT779236	hsa-miR-4778-3p	CLIP-seq
MIRT779237	hsa-miR-4785	CLIP-seq
MIRT779238	hsa-miR-484	CLIP-seq
MIRT779239	hsa-miR-518a-5p	CLIP-seq
MIRT779240	hsa-miR-527	CLIP-seq
MIRT779241	hsa-miR-548o	CLIP-seq
MIRT779242	hsa-miR-630	CLIP-seq
MIRT1930012	hsa-miR-1273e	CLIP-seq
MIRT779188	hsa-miR-216a	CLIP-seq
MIRT779189	hsa-miR-216b	CLIP-seq
MIRT779193	hsa-miR-3122	CLIP-seq
MIRT1930013	hsa-miR-3664-3p	CLIP-seq
MIRT1930014	hsa-miR-3670	CLIP-seq
MIRT779196	hsa-miR-3689a-3p	CLIP-seq
MIRT779197	hsa-miR-3689c	CLIP-seq
MIRT779201	hsa-miR-3913-5p	CLIP-seq
MIRT779202	hsa-miR-3929	CLIP-seq
MIRT779204	hsa-miR-4419b	CLIP-seq
MIRT1930015	hsa-miR-4433	CLIP-seq
MIRT1930016	hsa-miR-4459	CLIP-seq
MIRT779205	hsa-miR-4478	CLIP-seq
MIRT779209	hsa-miR-4728-5p	CLIP-seq
MIRT1930017	hsa-miR-4768-3p	CLIP-seq
MIRT779211	hsa-miR-485-5p	CLIP-seq
MIRT779220	hsa-miR-145	CLIP-seq
MIRT2170775	hsa-miR-1197	CLIP-seq
MIRT2170776	hsa-miR-1282	CLIP-seq
MIRT2170777	hsa-miR-1305	CLIP-seq
MIRT2170778	hsa-miR-2110	CLIP-seq
MIRT2170779	hsa-miR-3144-5p	CLIP-seq
MIRT2170780	hsa-miR-3150a-3p	CLIP-seq
MIRT2170781	hsa-miR-3191	CLIP-seq
MIRT779229	hsa-miR-3202	CLIP-seq
MIRT1930013	hsa-miR-3664-3p	CLIP-seq
MIRT2170782	hsa-miR-3664-5p	CLIP-seq
MIRT2170783	hsa-miR-3692	CLIP-seq
MIRT2170784	hsa-miR-4260	CLIP-seq
MIRT2170785	hsa-miR-4264	CLIP-seq
MIRT2170786	hsa-miR-4436a	CLIP-seq
MIRT2170787	hsa-miR-4475	CLIP-seq
MIRT779232	hsa-miR-4476	CLIP-seq
MIRT2170788	hsa-miR-4533	CLIP-seq
MIRT2170789	hsa-miR-4652-5p	CLIP-seq
MIRT2170790	hsa-miR-4704-3p	CLIP-seq
MIRT2170791	hsa-miR-4717-3p	CLIP-seq
MIRT2170792	hsa-miR-4719	CLIP-seq
MIRT2170793	hsa-miR-4742-3p	CLIP-seq
MIRT2170794	hsa-miR-4797-3p	CLIP-seq
MIRT2170795	hsa-miR-4802-3p	CLIP-seq
MIRT2170796	hsa-miR-507	CLIP-seq
MIRT2170797	hsa-miR-510	CLIP-seq
MIRT779239	hsa-miR-518a-5p	CLIP-seq
MIRT779240	hsa-miR-527	CLIP-seq
MIRT2170798	hsa-miR-557	CLIP-seq
MIRT2170799	hsa-miR-873	CLIP-seq
MIRT2384101	hsa-miR-1262	CLIP-seq
MIRT2384102	hsa-miR-4701-3p	CLIP-seq
MIRT2384103	hsa-miR-508-5p	CLIP-seq
MIRT2384104	hsa-miR-542-3p	CLIP-seq
MIRT2384105	hsa-miR-661	CLIP-seq
MIRT2384106	hsa-miR-766	CLIP-seq
MIRT779188	hsa-miR-216a	CLIP-seq
MIRT779189	hsa-miR-216b	CLIP-seq
MIRT779193	hsa-miR-3122	CLIP-seq
MIRT2443593	hsa-miR-3613-3p	CLIP-seq
MIRT2443594	hsa-miR-3667-5p	CLIP-seq
MIRT779196	hsa-miR-3689a-3p	CLIP-seq
MIRT779197	hsa-miR-3689c	CLIP-seq
MIRT2443595	hsa-miR-371-5p	CLIP-seq
MIRT2443596	hsa-miR-371b-5p	CLIP-seq
MIRT779201	hsa-miR-3913-5p	CLIP-seq
MIRT779202	hsa-miR-3929	CLIP-seq
MIRT779204	hsa-miR-4419b	CLIP-seq
MIRT779205	hsa-miR-4478	CLIP-seq
MIRT779209	hsa-miR-4728-5p	CLIP-seq
MIRT779211	hsa-miR-485-5p	CLIP-seq
MIRT2443597	hsa-miR-495	CLIP-seq
MIRT779188	hsa-miR-216a	CLIP-seq
MIRT779189	hsa-miR-216b	CLIP-seq
MIRT779193	hsa-miR-3122	CLIP-seq
MIRT779196	hsa-miR-3689a-3p	CLIP-seq
MIRT779197	hsa-miR-3689c	CLIP-seq
MIRT779201	hsa-miR-3913-5p	CLIP-seq
MIRT779209	hsa-miR-4728-5p	CLIP-seq
MIRT2473441	hsa-miR-1183	CLIP-seq
MIRT2473442	hsa-miR-1200	CLIP-seq
MIRT2473443	hsa-miR-1273f	CLIP-seq
MIRT2170777	hsa-miR-1305	CLIP-seq
MIRT2473444	hsa-miR-143	CLIP-seq
MIRT2473445	hsa-miR-3064-3p	CLIP-seq
MIRT2473446	hsa-miR-3148	CLIP-seq
MIRT779229	hsa-miR-3202	CLIP-seq
MIRT2473447	hsa-miR-3671	CLIP-seq
MIRT2473448	hsa-miR-3688-3p	CLIP-seq
MIRT2473449	hsa-miR-3935	CLIP-seq
MIRT2473450	hsa-miR-411	CLIP-seq
MIRT2473451	hsa-miR-4324	CLIP-seq
MIRT779232	hsa-miR-4476	CLIP-seq
MIRT2473452	hsa-miR-4659a-3p	CLIP-seq
MIRT2473453	hsa-miR-4659b-3p	CLIP-seq
MIRT2473454	hsa-miR-4682	CLIP-seq
MIRT2473455	hsa-miR-4693-5p	CLIP-seq
MIRT2473456	hsa-miR-4694-3p	CLIP-seq
MIRT2473457	hsa-miR-4708-5p	CLIP-seq
MIRT2473458	hsa-miR-4770	CLIP-seq
MIRT779236	hsa-miR-4778-3p	CLIP-seq
MIRT2473459	hsa-miR-4793-5p	CLIP-seq
MIRT2473460	hsa-miR-522	CLIP-seq
MIRT2473461	hsa-miR-544b	CLIP-seq
MIRT2473462	hsa-miR-577	CLIP-seq
MIRT2473463	hsa-miR-607	CLIP-seq
MIRT2473441	hsa-miR-1183	CLIP-seq
MIRT2170777	hsa-miR-1305	CLIP-seq
MIRT779229	hsa-miR-3202	CLIP-seq
MIRT2473447	hsa-miR-3671	CLIP-seq
MIRT2473449	hsa-miR-3935	CLIP-seq
MIRT2473450	hsa-miR-411	CLIP-seq
MIRT779232	hsa-miR-4476	CLIP-seq
MIRT2473455	hsa-miR-4693-5p	CLIP-seq
MIRT2473456	hsa-miR-4694-3p	CLIP-seq
MIRT779236	hsa-miR-4778-3p	CLIP-seq
MIRT2674943	hsa-miR-487a	CLIP-seq
MIRT2473460	hsa-miR-522	CLIP-seq
MIRT2473462	hsa-miR-577	CLIP-seq
MIRT2473463	hsa-miR-607	CLIP-seq

Show/Hide all(30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001726	Component	Ruffle	ISS
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	12837691, 16049005
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	15247254
GO:0005096	Function	GTPase activator activity	IDA	12837691, 15247254
GO:0005515	Function	Protein binding	IPI	21300063, 32814053
GO:0005634	Component	Nucleus	IDA	12837691
GO:0005769	Component	Early endosome	IDA	12837691
GO:0005813	Component	Centrosome	IDA	16085057
GO:0005829	Component	Cytosol	IDA	12837691
GO:0005829	Component	Cytosol	TAS
GO:0007032	Process	Endosome organization	IGI	17239822
GO:0007032	Process	Endosome organization	NAS	12837691
GO:0007041	Process	Lysosomal transport	IDA	12837691
GO:0030027	Component	Lamellipodium	ISS
GO:0030425	Component	Dendrite	IDA	15371724
GO:0030426	Component	Growth cone	ISS
GO:0031267	Function	Small GTPase binding	IDA	12837691, 15247254
GO:0031267	Function	Small GTPase binding	NAS	16670179
GO:0031982	Component	Vesicle	IDA	12837691
GO:0032991	Component	Protein-containing complex	IDA	15247254
GO:0035022	Process	Positive regulation of Rac protein signal transduction	IC	16049005
GO:0042802	Function	Identical protein binding	IDA	15247254
GO:0042803	Function	Protein homodimerization activity	IPI	15247254
GO:0043539	Function	Protein serine/threonine kinase activator activity	IDA	16049005
GO:0043547	Process	Positive regulation of GTPase activity	IDA	16049005
GO:0045860	Process	Positive regulation of protein kinase activity	IDA	16049005
GO:0048812	Process	Neuron projection morphogenesis	IDA	16049005
GO:0051036	Process	Regulation of endosome size	IEP	15247254
GO:0051260	Process	Protein homooligomerization	IDA	15247254
GO:0071902	Process	Positive regulation of protein serine/threonine kinase activity	IEA

MIM	HGNC	e!Ensembl
606352	443	ENSG00000003393

Protein

UniProt ID

Protein name

Alsin (Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 6 protein) (Amyotrophic lateral sclerosis 2 protein)

Protein function

May act as a GTPase regulator. Controls survival and growth of spinal motoneurons (By similarity).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00415	RCC1	109 → 165	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF00415	RCC1	170 → 216	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF00415	RCC1	527 → 574	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF00621	RhoGEF	694 → 882	RhoGEF domain	Domain
PF02493	MORN	1049 → 1071	MORN repeat	Repeat
PF02493	MORN	1072 → 1094	MORN repeat	Repeat
PF02493	MORN	1100 → 1122	MORN repeat	Repeat
PF02493	MORN	1123 → 1142	MORN repeat	Repeat
PF02493	MORN	1151 → 1168	MORN repeat	Repeat
PF02493	MORN	1175 → 1191	MORN repeat	Repeat
PF02493	MORN	1198 → 1220	MORN repeat	Repeat
PF02493	MORN	1221 → 1244	MORN repeat	Repeat
PF02204	VPS9	1552 → 1656	Vacuolar sorting protein 9 (VPS9) domain	Family

Sequence

MDSKKRSSTEAEGSKERGLVHIWQAGSFPITPERLPGWGGKTVLQAALGVKHGVLLTEDG
EVYSFGTLPWRSGPVEICPSSPILENALVGQYVITVATGSFHSGAVTDNGVAYMWGENSA
GQCAVANQQYVPEPNPVSIADSEASPLLAVRILQLACGEEHTLALSISREIWAWGTGCQL
GLITTAFPVTKPQKVEHLAGRVVLQVACGAFHSLALVQCLPSQDLKPVPERCNQCSQLLI
TMTDKEDHVIISDSHCCPLGVTLTESQAENHASTALSPSTETLDRQEEVFENTLVANDQS
VATELNAVSAQITSSDAMSSQQNVMGTTEISSARNIPSYPDTQAVNEYLRKLSDHSVRED
SEHGEKPVPSQPLLEEAIPNLHSPPTTSTSALNSLVVSCASAVGVRVAATYEAGALSLKK
VMNFYSTTPCETGAQAGSSAIGPEGLKDSREEQVKQESMQGKKSSSLVDIREEETEGGSR
RLSLPGLLSQVSPRLLRKAARVKTRTVVLTPTYSGEADALLPSLRTEVWTWGKGKEGQLG
HGDVLPRLQPLCVKCLDGKEVIHLEAGGYHSLALTAKSQVYSWGSNTFGQLGHSDFPTTV
PRLAKISSENGVWSIAAGRDYSLFLVDTEDFQPGLYYSGRQDPTEGDNLPENHSGSKTPV
LLSCSKLGYISRVTAGKDSYLALVDKNIMGYIASLHELATTERRFYSKLSDIKSQILRPL
LSLENLGTTTTVQLLQEVASRFSKLCYLIGQHGASLSSFLHGVKEARSLVILKHSSLFLD
SYTEYCTSITNFLVMGGFQLLAKPAIDFLNKNQELLQDLSEVNDENTQLMEILNTLFFLP
IRRLHNYAKVLLKLATCFEVASPEYQKLQDSSSCYECLALHLGRKRKEAEYTLGFWKTFP
GKMTDSLRKPERRLLCESSNRALSLQHAGRFSVNWFILFNDALVHAQFSTHHVFPLATLW
AEPLSEEAGGVNGLKITTPEEQFTLISSTPQEKTKWLRAISQAVDQALRGMSDLPPYGSG
SSVQRQEPPISRSAKYTFYKDPRLKDATYDGRWLSGKPHGRGVLKWPDGKMYSGMFRNGL
EDGYGEYRIPNKAMNKEDHYVGHWKEGKMCGQGVYSYASGEVFEGCFQDNMRHGHGLLRS
GKLTSSSPSMFIGQWVMDKKAGYGVFDDITRGEKYMGMWQDDVCQGNGVVVTQFGLYYEG
NFHLNKMMGNGVLLSEDDTIYEGEFSDDWTLSGKGTLTMPNGDYIEGYFSGEWGSGIKIT
GTYFKPSLYESDKDRPKVFRKLGNLAVPADEKWKAVFDECWRQLGCEGPGQGEVWKAWDN
IAVALTTSRRQHRDSPEILSRSQTQTLESLEFIPQHVGAFSVEKYDDIRKYLIKACDTPL
HPLGRLVETLVAVYRMTYVGVGANRRLLQEAVKEIKSYLKRIFQLVRFLFPELPEEGSTI
PLSAPLPTERKSFCTGKSDSRSESPEPGYVVTSSGLLLPVLLPRLYPPLFMLYALDNDRE
EDIYWECVLRLNKQPDIALLGFLGVQRKFWPATLSILGESKKVLPTTKDACFASAVECLQ
QISTTFTPSDKLKVIQQTFEEISQSVLASLHEDFLWSMDDLFPVFLYVVLRARIRNLGSE
VHLIEDLMDPYLQHGEQGIMFTTLKACYYQIQREKLN

Sequence length

1657

Interactions

View interactions

	KEGG		Reactome
	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases		RAB GEFs exchange GTP for GDP on RABs

Associated diseases

Show/Hide Causal Diseases (5)

Causal
Disease name	Disease term	dbSNP ID	References
Amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis, AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder), Juvenile amyotrophic lateral sclerosis	rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733, rs80356731, rs80356726, rs267606928, rs267606929, rs1885090126, rs121434591, rs121912431, rs121912432, rs121912433, rs121912434, rs121912435, rs121912440, rs121912436, rs121912437, rs121912438, rs121912439, rs74315452, rs121912442, rs121912443, rs121912444, rs121912446, rs121912447, rs1197141604, rs121912448, rs121912449, rs121912450, rs121912451, rs121912452, rs121912453, rs121912454, rs369600566, rs121912455, rs121912456, rs121912457, rs121912458, rs1555836889, rs121909667, rs121909668, rs121909669, rs121909671, rs121909535, rs121909537, rs121909538, rs121909539, rs121909540, rs121909542, rs121909544, rs80356734, rs367543041, rs80356740, rs80356719, rs80356721, rs80356723, rs80356725, rs387906627, rs387906628, rs387906709, rs387906710, rs387906711, rs387906829, rs387907264, rs387907265, rs387907266, rs312262739, rs312262709, rs312262749, rs200793464, rs147713329, rs312262788, rs397514262, rs63751180, rs587777132, rs730880025, rs730880026, rs730880027, rs368743618, rs730880029, rs730882255, rs730882256, rs786205611, rs121912441, rs199947197, rs780136067, rs772731615, rs879253926, rs879254294, rs764717219, rs886041390, rs750159428, rs753207473, rs267607087, rs767350733, rs778305085, rs1554707680, rs1554707622, rs1393363759, rs750959420, rs1555509569, rs1554716504, rs11556620, rs1247392012, rs142083484, rs140385286, rs749428135, rs371575563, rs1402429085, rs1218712729, rs1555179091, rs1555179087, rs746971952, rs1555836950, rs368276916, rs140376902, rs747220413, rs76731700, rs770684782, rs1200906022, rs1804449, rs1482760341, rs769898852, rs140599944, rs757972700, rs1555451521, rs1592362719, rs1555836803, rs763455928, rs1378590183, rs1583695322, rs1362178149, rs1197928094, rs368751524, rs1555509609, rs1574787779, rs1601157750, rs1301635320, rs1341055534, rs1402092579, rs1568809172, rs1555836170, rs1315541036, rs1339283341, rs1643659556, rs1644506661, rs1435710212, rs1553122918, rs1689580631, rs374047961, rs775935265, rs2076486420, rs1820836522, rs757260058, rs1844420892, rs1833371664, rs1833438306, rs1833451208, rs2083790483, rs1303294230, rs1226110412, rs2053207945, rs2053208751, rs2053501632, rs2053539304, rs1567479067, rs544088874, rs1228194239, rs1568807400, rs1169198442, rs2049594204, rs2049594311, rs1568810641, rs1568811372, rs2049618449, rs1476760624, rs2079347087	11586298, 27601211, 20018642, 11586297, 23881933, 23282280
Lateral sclerosis	Juvenile primary lateral sclerosis, Primary lateral sclerosis juvenile	rs386134181, rs386134176, rs386134174, rs386134184, rs386134178, rs1693780539, rs1574698048	19122027, 27601211, 11586298, 23881933
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Spastic paralysis	Hereditary spastic paralysis, infantile onset ascending, Infantile-onset ascending hereditary spastic paralysis	rs386134181, rs386134187, rs387906316, rs386134183, rs386134175, rs386134188, rs121908137, rs121908138, rs121908139, rs386134182, rs587777132, rs730882256, rs863225293, rs863225294, rs878855058, rs767350733, rs1060503672, rs1064793583, rs1064797281, rs746255868, rs369577952, rs1553511680, rs757972700, rs1691183538, rs763455928, rs1693726956, rs1693462968, rs1574786170, rs1574787779, rs1574786641, rs374047961	23881933, 12145748, 11586298, 24315819, 27601211
Spastic paraplegia	Spastic Paraplegia	rs118204049, rs121918262, rs104894490, rs119476046, rs281865117, rs281865118, rs137853017, rs72554620, rs121908610, rs121908611, rs121908613, rs116171274, rs121434442, rs121434443, rs137852520, rs137852521, rs137852524, rs137852525, rs879253716, rs387906970, rs587776888, rs759947457, rs587776891, rs753426920, rs387907057, rs397514478, rs387907285, rs387907287, rs387907288, rs281865120, rs397514513, rs141431913, rs312262755, rs398123013, rs398123014, rs398122382, rs745744124, rs483352924, rs483352925, rs587777222, rs587779388, rs587783179, rs587783772, rs587784383, rs587784384, rs730882249, rs762947018, rs786204628, rs141315518, rs786204416, rs786204750, rs770866403, rs775059063, rs797044787, rs794729214, rs794729215, rs797045050, rs370828455, rs146262009, rs797045244, rs780247476, rs185246578, rs766773277, rs863224494, rs752669339, rs869320690, rs200737038, rs869312914, rs752283089, rs751713917, rs756205995, rs875989787, rs875989845, rs375817528, rs200440467, rs876661295, rs794727501, rs770285398, rs878854745, rs878854975, rs878855013, rs878855011, rs878855083, rs878853979, rs879255397, rs879255396, rs886039410, rs886039409, rs886039407, rs886039408, rs886039405, rs886039406, rs752598529, rs752059006, rs202199411, rs886041949, rs886041127, rs886042238, rs1057517123, rs747868017, rs1057517294, rs565203731, rs753205260, rs1057517002, rs779338945, rs755186798, rs1057517250, rs1057517060, rs753012964, rs758572409, rs1057516959, rs1057516438, rs145766983, rs1057516689, rs1057516932, rs1057516635, rs1057517366, rs759166250, rs1057517138, rs761089024, rs1057517297, rs1057517311, rs1057516779, rs1057517039, rs1057517285, rs1057516365, rs1057516625, rs1057516987, rs1057516837, rs1057518016, rs1057518880, rs1057518697, rs1057519289, rs1057519290, rs1057519291, rs1057519292, rs1057519293, rs1057521784, rs1060499756, rs1060499771, rs1060502224, rs1060502523, rs371019314, rs1060503431, rs774906736, rs372350326, rs776976178, rs370837940, rs1064793162, rs1064793920, rs1555177629, rs1555394376, rs377445018, rs767024102, rs768176054, rs1557090943, rs1557090161, rs1555178616, rs1555251539, rs754439135, rs1321353475, rs1555186937, rs767871841, rs867249938, rs1440541889, rs1555456727, rs1268722908, rs1557092247, rs1557092248, rs765632065, rs773246271, rs1554380391, rs1554517327, rs200268523, rs1156566314, rs1160357920, rs773182375, rs768366199, rs774809466, rs1555542889, rs915291720, rs1021034246, rs769676029, rs746979262, rs1033093801, rs955142329, rs760559263, rs1557091773, rs1372213267, rs1557091678, rs1402429085, rs1555179091, rs1555179087, rs374128662, rs142209254, rs1553259463, rs1555254256, rs755820725, rs1335804396, rs568176223, rs1555979596, rs780030221, rs1553314978, rs923921184, rs1556840029, rs374894037, rs1553262438, rs1555249362, rs950356390, rs1557091278, rs1557090220, rs1259615333, rs1555249276, rs1555249425, rs1555249479, rs1555249555, rs1555250949, rs1555252349, rs1167474602, rs1175545518, rs1555249648, rs1555249878, rs1400601705, rs1555252086, rs745907077, rs1555249371, rs1555249904, rs1555393393, rs1028098148, rs766711286, rs767164213, rs1470672632, rs1555252184, rs1224762841, rs769329153, rs1555254734, rs1555397331, rs941230062, rs545219731, rs200832994, rs1555250255, rs1240368715, rs1555393338, rs1049504575, rs1485209013, rs868672014, rs1214483973, rs558285072, rs1555398241, rs1186788102, rs981804211, rs935301743, rs1555251822, rs1555255676, rs369459721, rs772400670, rs1558119445, rs759033144, rs1565705251, rs1566055368, rs1566058677, rs1006060877, rs1448182827, rs1569544908, rs754944359, rs754944429, rs1569544723, rs1569285562, rs367916692, rs1566893090, rs1177577061, rs1566881181, rs1569280986, rs1590847310, rs746220436, rs1569281085, rs529495094, rs1563920268, rs1563920252, rs1563920172, rs1563919973, rs1563920000, rs1563920132, rs751568153, rs1569274606, rs1455411788, rs1571908452, rs768640920, rs1578729121, rs1585896928, rs1585808059, rs1588001500, rs1011987148, rs1594915468, rs1594925773, rs1361370524, rs1593121507, rs1365858851, rs1593125341, rs1181477970, rs1593129673, rs1593133395, rs1593133714, rs1593144167, rs1593144544, rs1593144887, rs767435985, rs1593147785, rs994374354, rs1593157923, rs1594900921, rs1594906944, rs1594910045, rs1594913346, rs1594930532, rs1594938339, rs140354725, rs1418885000, rs1603275195, rs1603276234, rs1574077569, rs1603275315, rs1587878722, rs1587879449, rs1593133607, rs770490672, rs1602099961, rs778722037, rs756830713, rs1593121484, rs763869212, rs1594912625, rs1597556143, rs778113360, rs377278120, rs933233143, rs1572337800, rs1573072864, rs1593125290, rs1593126754, rs1593123432, rs1571563769, rs1584514057, rs772704931, rs1587878961, rs1802811311, rs1052410160, rs1298132281, rs748480664, rs139015012, rs1340636078, rs927804920, rs1883405453, rs1883566609, rs1868403104, rs1868480299, rs1868481514, rs1868567420, rs1868626730, rs1868628768, rs1868872666, rs1869006331, rs769212398, rs757179309, rs2039098098, rs2039228359, rs774867891, rs2039613696, rs2039616151, rs2039786680, rs2039997721, rs748149642, rs2040215878, rs760484081, rs1204169977, rs367665974, rs201311640, rs1034820850, rs1930458591, rs1882179247, rs2039758874, rs1885117995, rs1805435464

Show/Hide Unknown Diseases (11)

Unknown
Disease name	Disease term	dbSNP ID	References
Anarthria speech disorder	Anarthria speech disorder
Cerebral cortical atrophy	Cerebral cortical atrophy
Distal amyotrophy	Distal amyotrophy	rs1457770815
Dysarthria	Dysarthria
Dysphagia	Deglutition Disorders
Motor delay	Clumsiness - motor delay
Peripheral axonal neuropathy	Peripheral axonal neuropathy	rs202219507, rs529035174, rs758974790, rs70983380, rs761291489, rs1579721449, rs1572614757, rs777077185
Quadriplegia	Quadriplegia
Sensory neuropathy	Sensory neuropathy
Spastic quadriplegia	Spastic Quadriplegia
Spastic tetraparesis	Spastic tetraparesis	rs35077384

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