• Gene id: 57679

Gene Summary

• Gene Symbol: ALS2   Gene   UCSC   Ensembl
• Aliases: ALS2CR6, ALSJ, IAHSP, PLSJ
• Gene name: alsin Rho guanine nucleotide exchange factor ALS2
• Alternate names: alsin, ALS2, alsin Rho guanine nucleotide exchange factor, amyotrophic lateral sclerosis 2 (juvenile), amyotrophic lateral sclerosis 2 chromosomal region candidate gene 6 protein, amyotrophic lateral sclerosis 2 protein,
• Gene location: 2q33.1 (201781152: 201700266)     Exons: 37     NC_000002.12
• Gene summary(Entrez): 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
• OMIM: 606352

Protein Summary

• Protein general information: Q96Q42  
  • Name: Alsin (Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 6 protein) (Amyotrophic lateral sclerosis 2 protein)
  • Length: 1657  
  • Mass: 183634
• Sequence:

  MDSKKRSSTEAEGSKERGLVHIWQAGSFPITPERLPGWGGKTVLQAALGVKHGVLLTEDGEVYSFGTLPWRSGPV
  EICPSSPILENALVGQYVITVATGSFHSGAVTDNGVAYMWGENSAGQCAVANQQYVPEPNPVSIADSEASPLLAV
  RILQLACGEEHTLALSISREIWAWGTGCQLGLITTAFPVTKPQKVEHLAGRVVLQVACGAFHSLALVQCLPSQDL
  KPVPERCNQCSQLLITMTDKEDHVIISDSHCCPLGVTLTESQAENHASTALSPSTETLDRQEEVFENTLVANDQS
  VATELNAVSAQITSSDAMSSQQNVMGTTEISSARNIPSYPDTQAVNEYLRKLSDHSVREDSEHGEKPVPSQPLLE
  EAIPNLHSPPTTSTSALNSLVVSCASAVGVRVAATYEAGALSLKKVMNFYSTTPCETGAQAGSSAIGPEGLKDSR
  EEQVKQESMQGKKSSSLVDIREEETEGGSRRLSLPGLLSQVSPRLLRKAARVKTRTVVLTPTYSGEADALLPSLR
  TEVWTWGKGKEGQLGHGDVLPRLQPLCVKCLDGKEVIHLEAGGYHSLALTAKSQVYSWGSNTFGQLGHSDFPTTV
  PRLAKISSENGVWSIAAGRDYSLFLVDTEDFQPGLYYSGRQDPTEGDNLPENHSGSKTPVLLSCSKLGYISRVTA
  GKDSYLALVDKNIMGYIASLHELATTERRFYSKLSDIKSQILRPLLSLENLGTTTTVQLLQEVASRFSKLCYLIG
  QHGASLSSFLHGVKEARSLVILKHSSLFLDSYTEYCTSITNFLVMGGFQLLAKPAIDFLNKNQELLQDLSEVNDE
  NTQLMEILNTLFFLPIRRLHNYAKVLLKLATCFEVASPEYQKLQDSSSCYECLALHLGRKRKEAEYTLGFWKTFP
  GKMTDSLRKPERRLLCESSNRALSLQHAGRFSVNWFILFNDALVHAQFSTHHVFPLATLWAEPLSEEAGGVNGLK
  ITTPEEQFTLISSTPQEKTKWLRAISQAVDQALRGMSDLPPYGSGSSVQRQEPPISRSAKYTFYKDPRLKDATYD
  GRWLSGKPHGRGVLKWPDGKMYSGMFRNGLEDGYGEYRIPNKAMNKEDHYVGHWKEGKMCGQGVYSYASGEVFEG
  CFQDNMRHGHGLLRSGKLTSSSPSMFIGQWVMDKKAGYGVFDDITRGEKYMGMWQDDVCQGNGVVVTQFGLYYEG
  NFHLNKMMGNGVLLSEDDTIYEGEFSDDWTLSGKGTLTMPNGDYIEGYFSGEWGSGIKITGTYFKPSLYESDKDR
  PKVFRKLGNLAVPADEKWKAVFDECWRQLGCEGPGQGEVWKAWDNIAVALTTSRRQHRDSPEILSRSQTQTLESL
  EFIPQHVGAFSVEKYDDIRKYLIKACDTPLHPLGRLVETLVAVYRMTYVGVGANRRLLQEAVKEIKSYLKRIFQL
  VRFLFPELPEEGSTIPLSAPLPTERKSFCTGKSDSRSESPEPGYVVTSSGLLLPVLLPRLYPPLFMLYALDNDRE
  EDIYWECVLRLNKQPDIALLGFLGVQRKFWPATLSILGESKKVLPTTKDACFASAVECLQQISTTFTPSDKLKVI
  QQTFEEISQSVLASLHEDFLWSMDDLFPVFLYVVLRARIRNLGSEVHLIEDLMDPYLQHGEQGIMFTTLKACYYQ
  IQREKLN

• Structural information:
  • Protein Domains: (690..88-)
    (/note="DH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00062-)
    (901..100-)
    (/note="PH-)
    (/evidence="ECO:0000305-)
    (1513..165-)
    (/note="VPS9-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00550"-)
  • Interpro: IPR035899  IPR000219  IPR003409  IPR011993  IPR009091   IPR000408  IPR003123  IPR037191  
  • Prosite: PS50010 PS00626 PS50012 PS51205
  • STRING: ENSP00000264276
• Other Databases: GeneCards:  ALS2  Malacards:  ALS2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0017137	Rab GTPase binding	IDA	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0051260	protein homooligomerization	IDA	biological process
GO:0048365	Rac GTPase binding	IDA	molecular function
GO:0042802	identical protein binding	IDA	molecular function
GO:0007041	lysosomal transport	IDA	biological process
GO:0005769	early endosome	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005096	GTPase activator activity	IDA	molecular function
GO:0005096	GTPase activator activity	IDA	molecular function
GO:0007032	endosome organization	IGI	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0043025	neuronal cell body	IEA	cellular component
GO:0030426	growth cone	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0008219	cell death	IEA	biological process
GO:0007409	axonogenesis	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0001701	in utero embryonic development	IEA	biological process
GO:0043197	dendritic spine	IEA	cellular component
GO:0043087	regulation of GTPase activity	IEA	biological process
GO:0030027	lamellipodium	IEA	cellular component
GO:0016197	endosomal transport	IEA	biological process
GO:0014069	postsynaptic density	IEA	cellular component
GO:0008104	protein localization	IEA	biological process
GO:0006979	response to oxidative stress	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0016601	Rac protein signal transduction	IEA	biological process
GO:0035249	synaptic transmission, glutamatergic	IEA	biological process
GO:0016050	vesicle organization	IEA	biological process
GO:0007626	locomotory behavior	IEA	biological process
GO:0007528	neuromuscular junction development	IEA	biological process
GO:0005813	centrosome	IEA	cellular component
GO:0001881	receptor recycling	IEA	biological process
GO:0001726	ruffle	IEA	cellular component
GO:0001662	behavioral fear response	IEA	biological process
GO:0071902	positive regulation of protein serine/threonine kinase activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IDA	biological process
GO:0031982	vesicle	IDA	cellular component
GO:0005769	early endosome	IDA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IDA	contributes to
GO:0048812	neuron projection morphogenesis	IDA	biological process
GO:0045860	positive regulation of protein kinase activity	IDA	biological process
GO:0017112	Rab guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0035022	positive regulation of Rac protein signal transduction	IC	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0043539	protein serine/threonine kinase activator activity	IDA	molecular function
GO:0032991	protein-containing complex	IDA	cellular component
GO:0030676	Rac guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0030425	dendrite	IDA	cellular component
GO:0017137	Rab GTPase binding	IDA	molecular function
GO:0030426	growth cone	ISS	cellular component
GO:0030027	lamellipodium	ISS	cellular component
GO:0051036	regulation of endosome size	IEP	biological process
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0017137	Rab GTPase binding	NAS	molecular function
GO:0007032	endosome organization	NAS	biological process
GO:0001726	ruffle	ISS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05014	Amyotrophic lateral sclerosis

Diseases

Associated diseases	References
Amyotrophic lateral sclerosis	KEGG:H00058
Juvenile primary lateral sclerosis	KEGG:H00970
Infantile ascending hereditary spastic paralysis	KEGG:H01172
Amyotrophic lateral sclerosis	KEGG:H00058
Juvenile primary lateral sclerosis	KEGG:H00970
Infantile ascending hereditary spastic paralysis	KEGG:H01172
Amyotrophic lateral sclerosis	PMID:11586297
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)