Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23064
Gene name Gene Name - the full gene name approved by the HGNC.
Senataxin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SETX
Synonyms (NCBI Gene) Gene synonyms aliases
ALS4, AOA2, SCAN2, SCAR1, STEX, Sen1, bA479K20.2
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q34.13
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein named for its homology to the Sen1p protein of fungi which has RNA helicase activity encoded by a domain at the C-terminal end of the protein. The protein encoded by this gene contains a DNA/RNA helicase domain at its C-termina
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs28940290 G>A Pathogenic Missense variant, downstream transcript variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs28941475 G>A Likely-pathogenic, pathogenic, uncertain-significance Missense variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs29001584 A>G Pathogenic, uncertain-significance Missense variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs29001665 G>A Pathogenic Missense variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs113831637 G>C Conflicting-interpretations-of-pathogenicity, likely-benign Non coding transcript variant, genic upstream transcript variant, coding sequence variant, upstream transcript variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016893 hsa-miR-335-5p Microarray 18185580
MIRT040922 hsa-miR-18a-3p CLASH 23622248
MIRT462332 hsa-miR-541-5p PAR-CLIP 23592263
MIRT462331 hsa-miR-586 PAR-CLIP 23592263
MIRT462330 hsa-miR-125a-3p PAR-CLIP 23592263
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000228 Component Nuclear chromosome IDA 24105744
GO:0000781 Component Chromosome, telomeric region IEA
GO:0001147 Function Transcription termination site sequence-specific DNA binding IBA
GO:0001147 Function Transcription termination site sequence-specific DNA binding IDA 21700224
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608465 445 ENSG00000107290
Protein
UniProt ID Q7Z333
Protein name Probable helicase senataxin (EC 3.6.4.-) (Amyotrophic lateral sclerosis 4 protein) (SEN1 homolog) (Senataxin)
Protein function Probable RNA/DNA helicase involved in diverse aspects of RNA metabolism and genomic integrity. Plays a role in transcription regulation by its ability to modulate RNA Polymerase II (Pol II) binding to chromatin and through its interaction with p
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13086 AAA_11 1933 2218 AAA domain Domain
PF13087 AAA_12 2225 2426 AAA domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in skeletal muscle. Expressed in heart, fibroblast, placenta and liver. Weakly expressed in brain and lung. Expressed in the cortex of the kidney (highly expressed in tubular epithelial cells but low expression in the
Sequence
MSTCCWCTPGGASTIDFLKRYASNTPSGEFQTADEDLCYCLECVAEYHKARDELPFLHEV
LWELETLRLINHFEKSMKAEIGDDDELYIVDNNGEMPLFDITGQDFENKLRVPLLEILKY
PYLLLHERVNELCVEALCRMEQANCSFQVFDKHPGIYLFLVHPNEMVRRWAILTARNLGK
VDRDDYYDLQEVLLCLFKVIELGLLESPDIYTSSVLEKGKLILLPSHMYDTTNYKSYWLG
ICMLLTILEEQAMDSLLLGSDKQNDFMQSILHTMEREADDDSVDPFWPALHCFMVILDRL
GSKVWGQLMDPIVAFQTIINNASYNREIRHIRNSSVRTKLEPESYLDDMVTCSQIVYNYN
PEKTKKDSGWRTAICPDYCPNMYEEMETLASVLQSDIGQDMRVHNSTFLWFIPFVQSLMD
LKDLGVAYIAQVVNHLYSEVKEVLNQTDAVCDKVTEFFLLILVSVIELHRNKKCLHLLWV
SSQQWVEAVVKCAKLPTTAFTRSSEKSSGNCSKGTAMISSLSLHSMPSNSVQLAYVQLIR
SLLKEGYQLGQQSLCKRFWDKLNLFLRGNLSLGWQLTSQETHELQSCLKQIIRNIKFKAP
PCNTFVDLTSACKISPASYNKEESEQMGKTSRKDMHCLEASSPTFSKEPMKVQDSVLIKA
DNTIEGDNNEQNYIKDVKLEDHLLAGSCLKQSSKNIFTERAEDQIKISTRKQKSVKEISS
YTPKDCTSRNGPERGCDRGIIVSTRLLTDSSTDALEKVSTSNEDFSLKDDALAKTSKRKT
KVQKDEICAKLSHVIKKQHRKSTLVDNTINLDENLTVSNIESFYSRKDTGVQKGDGFIHN
LSLDPSGVLDDKNGEQKSQNNVLPKEKQLKNEELVIFSFHENNCKIQEFHVDGKELIPFT
EMTNASEKKSSPFKDLMTVPESRDEEMSNSTSVIYSNLTREQAPDISPKSDTLTDSQIDR
DLHKLSLLAQASVITFPSDSPQNSSQLQRKVKEDKRCFTANQNNVGDTSRGQVIIISDSD
DDDDERILSLEKLTKQDKICLEREHPEQHVSTVNSKEEKNPVKEEKTETLFQFEESDSQC
FEFESSSEVFSVWQDHPDDNNSVQDGEKKCLAPIANTTNGQGCTDYVSEVVKKGAEGIEE
HTRPRSISVEEFCEIEVKKPKRKRSEKPMAEDPVRPSSSVRNEGQSDTNKRDLVGNDFKS
IDRRTSTPNSRIQRATTVSQKKSSKLCTCTEPIRKVPVSKTPKKTHSDAKKGQNRSSNYL
SCRTTPAIVPPKKFRQCPEPTSTAEKLGLKKGPRKAYELSQRSLDYVAQLRDHGKTVGVV
DTRKKTKLISPQNLSVRNNKKLLTSQELQMQRQIRPKSQKNRRRLSDCESTDVKRAGSHT
AQNSDIFVPESDRSDYNCTGGTEVLANSNRKQLIKCMPSEPETIKAKHGSPATDDACPLN
QCDSVVLNGTVPTNEVIVSTSEDPLGGGDPTARHIEMAALKEGEPDSSSDAEEDNLFLTQ
NDPEDMDLCSQMENDNYKLIELIHGKDTVEVEEDSVSRPQLESLSGTKCKYKDCLETTKN
QGEYCPKHSEVKAADEDVFRKPGLPPPASKPLRPTTKIFSSKSTSRIAGLSKSLETSSAL
SPSLKNKSKGIQSILKVPQPVPLIAQKPVGEMKNSCNVLHPQSPNNSNRQGCKVPFGESK
YFPSSSPVNILLSSQSVSDTFVKEVLKWKYEMFLNFGQCGPPASLCQSISRPVPVRFHNY
GDYFNVFFPLMVLNTFETVAQEWLNSPNRENFYQLQVRKFPADYIKYWEFAVYLEECELA
KQLYPKENDLVFLAPERINEEKKDTERNDIQDLHEYHSGYVHKFRRTSVMRNGKTECYLS
IQTQENFPANLNELVNCIVISSLVTTQRKLKAMSLLGSRNQLARAVLNPNPMDFCTKDLL
TTTSERIIAYLRDFNEDQKKAIETAYAMVKHSPSVAKICLIHGPPGTGKSKTIVGLLYRL
LTENQRKGHSDENSNAKIKQNRVLVCAPSNAAVDELMKKIILEFKEKCKDKKNPLGNCGD
INLVRLGPEKSINSEVLKFSLDSQVNHRMKKELPSHVQAMHKRKEFLDYQLDELSRQRAL
CRGGREIQRQELDENISKVSKERQELASKIKEVQGRPQKTQSIIILESHIICCTLSTSGG
LLLESAFRGQGGVPFSCVIVDEAGQSCEIETLTPLIHRCNKLILVGDPKQLPPTVISM
KA
QEYGYDQSMMARFCRLLEENVEHNMISRLPILQLTVQYRMHPDICLFPSNYVYNRNLKTN
RQTEAIRCSSDWPFQPYLVFDVGDGSERRDNDSYINVQEIKLVMEIIKLIKDKRKDVSFR
NIGIITHYKAQKTMIQKDLDKEFDRKGPAEVDTVDAFQGRQKDCVIVTCVRANSIQGSIG
FLASLQRLNVTITRAKYSLFILGHLR
TLMENQHWNQLIQDAQKRGAIIKTCDKNYRHDAV
KILKLKPVLQRSLTHPPTIAPEGSRPQGGLPSSKLDSGFAKTSVAASLYHTPSDSKEITL
TVTSKDPERPPVHDQLQDPRLLKRMGIEVKGGIFLWDPQPSSPQHPGATPPTGEPGFPVV
HQDLSHIQQPAAVVAALSSHKPPVRGEPPAASPEASTCQSKCDDPEEELCHRREARAFSE
GEQEKCGSETHHTRRNSRWDKRTLEQEDSSSKKRKLL
Sequence length 2677
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Amyotrophic lateral sclerosis  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Amyotrophic Lateral Sclerosis amyotrophic lateral sclerosis type 4, amyotrophic lateral sclerosis rs121434378, rs750959420, rs770684782, rs29001584, rs1362178149, rs28941475 N/A
Distal Spinal Muscular Atrophy distal spinal muscular atrophy rs28941475, rs121434378, rs29001584 N/A
Spinocerebellar Ataxia, WITH AXONAL NEUROPATHY Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 rs752122764, rs879253866, rs1589734405, rs759213174, rs1564482221, rs776470487, rs1589757407, rs121434379, rs750959420, rs1331217337, rs121434376, rs121434381, rs754706851, rs121434377, rs587776537
View all (9 more)
N/A
cerebellar ataxia Cerebellar ataxia rs750959420 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Ataxia-oculomotor apraxia ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia N/A N/A ClinVar
Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease N/A N/A ClinVar
Dementia Dementia N/A N/A GWAS
Distal Hereditary Motor Neuronopathy Neuronopathy, distal hereditary motor, autosomal dominant N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 30419062
Amyotrophic Lateral Sclerosis Associate 23755159, 23881933, 28413711, 29416069, 32686621, 33661429, 33709219, 36271102, 37208601, 9497266
Amyotrophic Lateral Sclerosis 2 Juvenile Associate 30052327
Amyotrophic Lateral Sclerosis 4 Juvenile Associate 23141540, 24105744, 24244371, 27718307, 29395064, 29416069, 31957062, 32686621, 35045161
Apraxia oculomotor Cogan type Associate 18405395, 21324166, 23941260, 34193451
Astrocytoma Associate 23486687
Ataxia Associate 18405395, 24030952, 29127364, 32686621
Autoimmune Diseases Associate 36542058
Carcinoma Squamous Cell Associate 35235452
Cerebellar Ataxia Associate 18405395, 23941260, 25116135, 27644330, 29482223, 34193451, 34663476