Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84033
Gene name Gene Name - the full gene name approved by the HGNC.
Obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
OBSCN
Synonyms (NCBI Gene) Gene synonyms aliases
ARHGEF30, RHABDO1, UNC89
Disease Acronyms (UniProt) Disease acronyms from UniProt database
RHABDO1
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q42.13
Summary Summary of gene provided in NCBI Entrez Gene.
The obscurin gene spans more than 150 kb, contains over 80 exons and encodes a protein of approximately 720 kDa. The encoded protein contains 68 Ig domains, 2 fibronectin domains, 1 calcium/calmodulin-binding domain, 1 RhoGEF domain with an associated PH
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs747262678 C>T Likely-pathogenic Coding sequence variant, missense variant
rs869312933 ATTCCAGGTGG>- Pathogenic Splice acceptor variant, coding sequence variant, intron variant
rs1480591236 C>T Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT020811 hsa-miR-155-5p Proteomics 18668040
MIRT1201670 hsa-let-7a CLIP-seq
MIRT1201671 hsa-let-7b CLIP-seq
MIRT1201672 hsa-let-7c CLIP-seq
MIRT1201673 hsa-let-7d CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005085 Function Guanyl-nucleotide exchange factor activity IEA
GO:0005515 Function Protein binding IPI 11448995, 12527750, 16962094, 20133654, 20489725, 23414517
GO:0005516 Function Calmodulin binding IEA
GO:0005524 Function ATP binding IEA
GO:0005546 Function Phosphatidylinositol-4,5-bisphosphate binding IDA 28826662
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608616 15719 ENSG00000154358
Protein
UniProt ID Q5VST9
Protein name Obscurin (EC 2.7.11.1) (Obscurin-RhoGEF) (Obscurin-myosin light chain kinase) (Obscurin-MLCK)
Protein function Structural component of striated muscles which plays a role in myofibrillogenesis. Probably involved in the assembly of myosin into sarcomeric A bands in striated muscle (PubMed:11448995, PubMed:16205939). Has serine/threonine protein kinase act
PDB 1V1C , 2CR6 , 2DKU , 2DM7 , 2E7B , 2EDF , 2EDH , 2EDL , 2EDQ , 2EDR , 2EDT , 2EDW , 2ENY , 2EO1 , 2GQH , 2MWC , 2N56 , 2YZ8 , 4C4K , 4RSV , 4UOW , 5TZM , 6MG9 , 7R67 , 7R68
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07679 I-set 10 99 Immunoglobulin I-set domain Domain
PF07679 I-set 110 201 Immunoglobulin I-set domain Domain
PF07679 I-set 241 328 Immunoglobulin I-set domain Domain
PF07679 I-set 333 415 Immunoglobulin I-set domain Domain
PF00041 fn3 514 600 Fibronectin type III domain Domain
PF07679 I-set 712 784 Immunoglobulin I-set domain Domain
PF07679 I-set 803 883 Immunoglobulin I-set domain Domain
PF07679 I-set 892 969 Immunoglobulin I-set domain Domain
PF07679 I-set 985 1062 Immunoglobulin I-set domain Domain
PF07679 I-set 1076 1155 Immunoglobulin I-set domain Domain
PF07679 I-set 1168 1250 Immunoglobulin I-set domain Domain
PF07679 I-set 1260 1337 Immunoglobulin I-set domain Domain
PF07679 I-set 1352 1430 Immunoglobulin I-set domain Domain
PF07679 I-set 1443 1524 Immunoglobulin I-set domain Domain
PF07679 I-set 1536 1614 Immunoglobulin I-set domain Domain
PF07679 I-set 1627 1711 Immunoglobulin I-set domain Domain
PF07679 I-set 1716 1804 Immunoglobulin I-set domain Domain
PF07679 I-set 1809 1896 Immunoglobulin I-set domain Domain
PF07679 I-set 1899 1984 Immunoglobulin I-set domain Domain
PF07679 I-set 1988 2075 Immunoglobulin I-set domain Domain
PF07679 I-set 2166 2251 Immunoglobulin I-set domain Domain
PF07679 I-set 2290 2374 Immunoglobulin I-set domain Domain
PF07679 I-set 2469 2556 Immunoglobulin I-set domain Domain
PF07679 I-set 2558 2643 Immunoglobulin I-set domain Domain
PF07679 I-set 2647 2732 Immunoglobulin I-set domain Domain
PF07679 I-set 2736 2822 Immunoglobulin I-set domain Domain
PF07679 I-set 2827 2912 Immunoglobulin I-set domain Domain
PF07679 I-set 2916 3000 Immunoglobulin I-set domain Domain
PF07679 I-set 3005 3091 Immunoglobulin I-set domain Domain
PF07679 I-set 3096 3180 Immunoglobulin I-set domain Domain
PF07679 I-set 3185 3269 Immunoglobulin I-set domain Domain
PF07679 I-set 3274 3357 Immunoglobulin I-set domain Domain
PF07679 I-set 3362 3446 Immunoglobulin I-set domain Domain
PF07679 I-set 3450 3534 Immunoglobulin I-set domain Domain
PF07679 I-set 3538 3621 Immunoglobulin I-set domain Domain
PF07679 I-set 3626 3709 Immunoglobulin I-set domain Domain
PF07679 I-set 3714 3798 Immunoglobulin I-set domain Domain
PF07679 I-set 3802 3886 Immunoglobulin I-set domain Domain
PF07679 I-set 3890 3976 Immunoglobulin I-set domain Domain
PF07679 I-set 3979 4065 Immunoglobulin I-set domain Domain
PF07679 I-set 4068 4154 Immunoglobulin I-set domain Domain
PF07679 I-set 4159 4246 Immunoglobulin I-set domain Domain
PF07679 I-set 4250 4337 Immunoglobulin I-set domain Domain
PF00041 fn3 4524 4607 Fibronectin type III domain Domain
PF07679 I-set 4626 4711 Immunoglobulin I-set domain Domain
PF00612 IQ 4873 4893 IQ calmodulin-binding motif Motif
PF07679 I-set 4898 4988 Immunoglobulin I-set domain Domain
PF07679 I-set 5126 5216 Immunoglobulin I-set domain Domain
PF07679 I-set 5260 5350 Immunoglobulin I-set domain Domain
PF07679 I-set 5371 5466 Immunoglobulin I-set domain Domain
PF00621 RhoGEF 5697 5874 RhoGEF domain Domain
PF07679 I-set 6014 6104 Immunoglobulin I-set domain Domain
PF07679 I-set 6108 6199 Immunoglobulin I-set domain Domain
PF07679 I-set 6357 6446 Immunoglobulin I-set domain Domain
PF00069 Pkinase 6468 6721 Protein kinase domain Domain
PF07679 I-set 7463 7552 Immunoglobulin I-set domain Domain
PF00069 Pkinase 7672 7924 Protein kinase domain Domain
Sequence
MDQPQFSGAPRFLTRPKAFVVSVGKDATLSCQIVGNPTPQVSWEKDQQPVAAGARFRLAQ
DGDLYRLTILDLALGDSGQYVCRARNAIGEAFAAVGLQV
DAEAACAEQAPHFLLRPTSIR
VREGSEATFRCRVGGSPRPAVSWSKDGRRLGEPDGPRVRVEELGEASALRIRAARPRDGG
TYEVRAENPLGAASAAAALVV
DSDAADTASRPGTSTAALLAHLQRRREAMRAEGAPASPP
STGTRTCTVTEGKHARLSCYVTGEPKPETVWKKDGQLVTEGRRHVVYEDAQENFVLKILF
CKQSDRGLYTCTASNLVGQTYSSVLVVV
REPAVPFKKRLQDLEVREKESATFLCEVPQPS
TEAAWFKEETRLWASAKYGIEEEGTERRLTVRNVSADDDAVYICETPEGSRTVAE
LAVQG
NLLRKLPRKTAVRVGDTAMFCVELAVPVGPVHWLRNQEEVVAGGRVAISAEGTRHTLTIS
QCCLEDVGQVAFMAGDCQTSTQFCVSAPRKPPLQPPVDPVVKARMESSVILSWSPPPHGE
RPVTIDGYLVEKKKLGTYTWIRCHEAEWVATPELTVADVAEEGNFQFRVSALNSFGQSPY

LEFPGTVHLAPKLAVRTPLKAVQAVEGGEVTFSVDLTVASAGEWFLDGQALKASSVYEIH
CDRTRHTLTIREVPASLHGAQLKFVANGIESSIRMEVRAAPGLTANKPPAAAAREVLARL
HEEAQLLAELSDQAAAVTWLKDGRTLSPGPKYEVQASAGRRVLLVRDVARDDAGLYECVS
RGGR
IAYQLSVQGLARFLHKDMAGSCVDAVAGGPAQFECETSEAHVHVHWYKDGMELGHS
GERFLQEDVGTRHRLVAATVTRQDEGTYSCRVGEDSVDFRLRV
SEPKVVFAKEQLARRKL
QAEAGASATLSCEVAQAQTEVTWYKDGKKLSSSSKVCMEATGCTRRLVVQQAGQADAGEY
SCEAGGQRL
SFHLDVKEPKVVFAKDQVAHSEVQAEAGASATLSCEVAQAQTEVMWYKDGK
KLSSSLKVHVEAKGCRRRLVVQQAGKTDAGDYSCEARGQRVS
FRLHITEPKMMFAKEQSV
HNEVQAEAGASAMLSCEVAQAQTEVTWYKDGKKLSSSSKVGMEVKGCTRRLVLPQAGKAD
AGEYSCEAGGQRVSF
HLHITEPKGVFAKEQSVHNEVQAEAGTTAMLSCEVAQPQTEVTWY
KDGKKLSSSSKVRMEVKGCTRRLVVQQVGKADAGEYSCEAGGQRVSFQLH
ITEPKAVFAK
EQLVHNEVRTEAGASATLSCEVAQAQTEVTWYKDGKKLSSSSKVRIEAAGCMRQLVVQQA
GQADAGEYTCEAGGQRL
SFHLDVSEPKAVFAKEQLAHRKVQAEAGAIATLSCEVAQAQTE
VTWYKDGKKLSSSSKVRMEAVGCTRRLVVQQACQADTGEYSCEAGGQRLS
FSLDVAEPKV
VFAKEQPVHREVQAQAGASTTLSCEVAQAQTEVMWYKDGKKLSFSSKVRMEAVGCTRRLV
VQQAGQAVAGEYSCEAGSQRLSFH
LHVAEPKAVFAKEQPASREVQAEAGTSATLSCEVAQ
AQTEVTWYKDGKKLSSSSKVRMEAVGCTRRLVVQEAGQADAGEYSCKAGDQRLS
FHLHVA
EPKVVFAKEQPAHREVQAEAGASATLSCEVAQAQTEVTWYKDGKKLSSSSKVRVEAVGCT
RRLVVQQAGQAEAGEYSCEAGGQQLSFRLQV
AELEPQISERPCRREPLVVKEHEDIILTA
TLATPSAATVTWLKDGVEIRRSKRHETASQGDTHTLTVHGAQVLDSAIYSCRVGAEGQDF
PVQV
EEVAAKFCRLLEPVCGELGGTVTLACELSPACAEVVWRCGNTQLRVGKRFQMVAEG
PVRSLTVLGLRAEDAGEYVCESRDDHTSAQLTVSVP
RVVKFMSGLSTVVAEEGGEATFQC
VVSPSDVAVVWFRDGALLQPSEKFAISQSGASHSLTISDLVLEDAGQITVEAEGASSSAA
LRVR
EAPVLFKKKLEPQTVEERSSVTLEVELTRPWPELRWTRNATALAPGKNVEIHAEGA
RHRLVLHNVGFADRGFFGCETPDDKTQAKLTVEMR
QVRLVRGLQAVEAREQGTATMEVQL
SHADVDGSWTRDGLRFQQGPTCHLAVRGPMHTLTLSGLRPEDSGLMVFKAEGVHTSARLV
VTELPVSFSRPLQDVVTTEKEKVTLECELSRPNVDVRWLKDGVELRAGKTMAIAAQGACR
SLTIYRCEFADQGVYVCDAHDAQSSASVKVQ
GRTYTLIYRRVLAEDAGEIQFVAENAESR
AQLRVKELPVTLVRPLRDKIAMEKHRGVLECQVSRASAQVRWFKGSQELQPGPKYELVSD
GLYRKLIISDVHAEDEDTYTCDAGDVKTSAQFFV
EEQSITIVRGLQDVTVMEPAPAWFEC
ETSIPSVRPPKWLLGKTVLQAGGNVGLEQEGTVHRLMLRRTCSTMTGPVHFTVGKSRSSA
RLVVSDIPVVLTRPLEPKTGRELQSVVLSCDFRPAPKAVQWYKDDTPLSPSEKFKMSLEG
QMAELRILRLMPADAGVYRCQAGSAHSSTEVTVEAR
EVTVTGPLQDAEATEEGWASFSCE
LSHEDEEVEWSLNGMPLYNDSFHEISHKGRRHTLVLKSIQRADAGIVRASSLKVSTSARL
EVR
VKPVVFLKALDDLSAEERGTLALQCEVSDPEAHVVWRKDGVQLGPSDKYDFLHTAGT
RGLVVHDVSPEDAGLYTCHVGSEETRARVRVH
DLHVGITKRLKTMEVLEGESCSFECVLS
HESASDPAMWTVGGKTVGSSSRFQATRQGRKYILVVREAAPSDAGEVVFSVRGLTSKASL
IV
RERPAAIIKPLEDQWVAPGEDVELRCELSRAGTPVHWLKDRKAIRKSQKYDVVCEGTM
AMLVIRGASLKDAGEYTCEVEASKSTASLHVE
EKANCFTEELTNLQVEEKGTAVFTCKTE
HPAATVTWRKGLLELRASGKHQPSQEGLTLRLTISALEKADSDTYTCDIGQAQSRAQLLV

QGRRVHIIEDLEDVDVQEGSSATFRCRISPANYEPVHWFLDKTPLHANELNEIDAQPGGY
HVLTLRQLALKDSGTIYFEAGDQRASAALRV
TEKPSVFSRELTDATITEGEDLTLVCETS
TCDIPVCWTKDGKTLRGSARCQLSHEGHRAQLLITGATLQDSGRYKCEAGGACSSSIVRV

HARPVRFQEALKDLEVLEGGAATLRCVLSSVAAPVKWCYGNNVLRPGDKYSLRQEGAMLE
LVVRNLRPQDSGRYSCSFGDQTTSATLTV
TALPAQFIGKLRNKEATEGATATLRCELSKA
APVEWRKGSETLRDGDRYCLRQDGAMCELQIRGLAMVDAAEYSCVCGEERTSASLTI
RPM
PAHFIGRLRHQESIEGATATLRCELSKAAPVEWRKGRESLRDGDRHSLRQDGAVCELQIC
GLAVADAGEYSCVCGEERTSATLTVK
ALPAKFTEGLRNEEAVEGATAMLWCELSKVAPVE
WRKGPENLRDGDRYILRQEGTRCELQICGLAMADAGEYLCVCGQERTSATLTIR
ALPARF
IEDVKNQEAREGATAVLQCELNSAAPVEWRKGSETLRDGDRYSLRQDGTKCELQIRGLAM
ADTGEYSCVCGQERTSAMLTV
RALPIKFTEGLRNEEATEGATAVLRCELSKMAPVEWWKG
HETLRDGDRHSLRQDGARCELQIRGLVAEDAGEYLCMCGKERTSAMLTV
RAMPSKFIEGL
RNEEATEGDTATLWCELSKAAPVEWRKGHETLRDGDRHSLRQDGSRCELQIRGLAVVDAG
EYSCVCGQERTSATLTVR
ALPARFIEDVKNQEAREGATAVLQCELSKAAPVEWRKGSETL
RGGDRYSLRQDGTRCELQIHGLSVADTGEYSCVCGQERTSATLTVR
APQPVFREPLQSLQ
AEEGSTATLQCELSEPTATVVWSKGGLQLQANGRREPRLQGCTAELVLQDLQREDTGEYT
CTCGSQATSATLTVTA
APVRFLRELQHQEVDEGGTAHLCCELSRAGASVEWRKGSLQLFP
CAKYQMVQDGAAAELLVRGVEQEDAGDYTCDTGHTQSMASLSVRV
PRPKFKTRLQSLEQE
TGDIARLCCQLSDAESGAVVQWLKEGVELHAGPKYEMRSQGATRELLIHQLEAKDTGEYA
CVTGGQKTAASLRV
TEPEVTIVRGLVDAEVTADEDVEFSCEVSRAGATGVQWCLQGLPLQ
SNEVTEVAVRDGRIHTLRLKGVTPEDAGTVSFHLGNHASSAQLTVR
APEVTILEPLQDVQ
LSEGQDASFQCRLSRASGQEARWALGGVPLQANEMNDITVEQGTLHLLTLHKVTLEDAGT
VSFHVGTCSSEAQLKVT
AKNTVVRGLENVEALEGGEALFECQLSQPEVAAHTWLLDDEPV
HTSENAEVVFFENGLRHLLLLKNLRPQDSCRVTFLAGDMVTSAFLTVRGWRLEILEPLKN
AAVRAGAQACFTCTLSEAVPVGEASWYINGAAVQPDDSDWTVTADGSHHALLLRSAQPHH
AGEVTFACRDAVASARLTVLGLPDPPEDAEVVARSSHTVTLSWAAPMSDGGGGLCGYRVE
VKEGATGQWRLCHELVPGPECVVDGLAPGETYRFRVAAVGPVGAGEP
VHLPQTVRLAEPP
KPVPPQPSAPESRQVAAGEDVSLELEVVAEAGEVIWHKGMERIQPGGRFEVVSQGRQQML
VIKGFTAEDQGEYHCGLAQGSICPAAATFQV
ALSPASVDEAPQPSLPPEAAQEGDLHLLW
EALARKRRMSREPTLDSISELPEEDGRSQRLPQEAEEVAPDLSEGYSTADELARTGDADL
SHTSSDDESRAGTPSLVTYLKKAGRPGTSPLASKVGAPAAPSVKPQQQQEPLAAVRPPLG
DLSTKDLGDPSMDKAAVKIQAAFKGYKVRKEMKQQEGPMFSHTFGDTEAQVGDALRLECV
VASKADVRARWLKDGVELTDGRHHHIDQLGDGTCSLLITGLDRADAGCYTCQVSNKFGQV
THSACVVV
SGSESEAESSSGGELDDAFRRAARRLHRLFRTKSPAEVSDEELFLSADEGPA
EPEEPADWQTYREDEHFICIRFEALTEARQAVTRFQEMFATLGIGVEIKLVEQGPRRVEM
CISKETPAPVVPPEPLPSLLTSDAAPVFLTELQNQEVQDGYPVSFDCVVTGQPMPSVRWF
KDGKLLEEDDHYMINEDQQGGHQLIITAVVPADMGVYRCLAENSMGVSSTKAELRV
DLTS
TDYDTAADATESSSYFSAQGYLSSREQEGTESTTDEGQLPQVVEELRDLQVAPGTRLAKF
QLKVKGYPAPRLYWFKDGQPLTASAHIRMTDKKILHTLEIISVTREDSGQYAAYISNAMG
AAYSSARLLV
RGPDEPEEKPASDVHEQLVPPRMLERFTPKKVKKGSSITFSVKVEGRPVP
TVHWLREEAERGVLWIGPDTPGYTVASSAQQHSLVLLDVGRQHQGTYTCIASNAAGQALC
SASLHV
SGLPKVEEQEKVKEALISTFLQGTTQAISAQGLETASFADLGGQRKEEPLAAKE
ALGHLSLAEVGTEEFLQKLTSQITEMVSAKITQAKLQVPGGDSDEDSKTPSASPRHGRSR
PSSSIQESSSESEDGDARGEIFDIYVVTADYLPLGAEQDAITLREGQYVEVLDAAHPLRW
LVRTKPTKSSPSRQGWVSPAYLDRRLKLSPEWGAAEAPEFPGEAVSEDEYKARLSSVIQE
LLSSEQAFVEELQFLQSHHLQHLERCPHVPIAVAGQKAVIFRNVRDIGRFHSSFLQELQQ
CDTDDDVAMCFIKNQAAFEQYLEFLVGRVQAESVVVSTAIQEFYKKYAEEALLAGDPSQP
PPPPLQHYLEQPVERVQRYQALLKELIRNKARNRQNCALLEQAYAVVSALPQRA
ENKLHV
SLMENYPGTLQALGEPIRQGHFIVWEGAPGARMPWKGHNRHVFLFRNHLVICKPRRDSRT
DTVSYVFRNMMKLSSIDLNDQVEGDDRAFEVWQEREDSVRKYLLQARTAIIKSSWVKEIC
GIQQRLALPVWRPPDFEEELADCTAELGETVKLACRVTGTPKPVISWYKDGKAVQVDPHH
ILIEDPDGSCALILDSLTGVDSGQYMCFAASAAGNCSTLGKILV
QVPPRFVNKVRASPFV
EGEDAQFTCTIEGAPYPQIRWYKDGALLTTGNKFQTLSEPRSGLLVLVIRAASKEDLGLY
ECELVNRLGSARASAELRI
QSPMLQAQEQCHREQLVAAVEDTTLERADQEVTSVLKRLLG
PKAPGPSTGDLTGPGPCPRGAPALQETGSQPPVTGTSEAPAVPPRVPQPLLHEGPEQEPE
AIARAQEWTVPIRMEGAAWPGAGTGELLWDVHSHVVRETTQRTYTYQAIDTHTARPPSMQ
VTIEDVQAQTGGTAQFEAIIEGDPQPSVTWYKDSVQLVDSTRLSQQQEGTTYSLVLRHVA
SKDAGVYTCLAQNTGGQVLCKAELLV
LGGDNEPDSEKQSHRRKLHSFYEVKEEIGRGVFG
FVKRVQHKGNKILCAAKFIPLRSRTRAQAYRERDILAALSHPLVTGLLDQFETRKTLILI
LELCSSEELLDRLYRKGVVTEAEVKVYIQQLVEGLHYLHSHGVLHLDIKPSNILMVHPAR
EDIKICDFGFAQNITPAELQFSQYGSPEFVSPEIIQQNPVSEASDIWAMGVISYLSLTCS
SPFAGESDRATLLNVLEGRVSWSSPMAAHLSEDAKDFIKATLQRAPQARPSAAQCLSHPW
F
LKSMPAEEAHFINTKQLKFLLARSRWQRSLMSYKSILVMRSIPELLRGPPDSPSLGVAR
HLCRDTGGSSSSSSSSDNELAPFARAKSLPPSPVTHSPLLHPRGFLRPSASLPEEAEASE
RSTEAPAPPASPEGAGPPAAQGCVPRHSVIRSLFYHQAGESPEHGALAPGSRRHPARRRH
LLKGGYIAGALPGLREPLMEHRVLEEEAAREEQATLLAKAPSFETALRLPASGTHLAPGH
SHSLEHDSPSTPRPSSEACGEAQRLPSAPSGGAPIRDMGHPQGSKQLPSTGGHPGTAQPE
RPSPDSPWGQPAPFCHPKQGSAPQEGCSPHPAVAPCPPGSFPPGSCKEAPLVPSSPFLGQ
PQAPPAPAKASPPLDSKMGPGDISLPGRPKPGPCSSPGSASQASSSQVSSLRVGSSQVGT
EPGPSLDAEGWTQEAEDLSDSTPTLQRPQEQATMRKFSLGGRGGYAGVAGYGTFAFGGDA
GGMLGQGPMWARIAWAVSQSEEEEQEEARAESQSEEQQEARAESPLPQVSARPVPEVGRA
PTRSSPEPTPWEDIGQVSLVQIRDLSGDAEAADTISLDISEVDPAYLNLSDLYDIKYLPF
EFMIFRKVPKSAQPEPPSPMAEEELAEFPEPTWPWPGELGPHAGLEITEESEDVDALLAE
AAVGRKRKWSSPSRSLFHFPGRHLPLDEPAELGLRERVKASVEHISRILKGRPEGLEKEG
PPRKKPGLASFRLSGLKSWDRAPTFLRELSDETVVLGQSVTLACQVSAQPAAQATWSKDG
APLESSSRVLISATLKNFQLLTILVVVAEDLGVYTCSVSNALGTVTTTGVLR
KAERPSSS
PCPDIGEVYADGVLLVWKPVESYGPVTYIVQCSLEGGSWTTLASDIFDCCYLTSKLSRGG
TYTFRTACVSKAGMGPYSSPSEQVLLGGPSHLASEEESQGRSAQPLPSTKTFAFQTQIQR
GRFSVVRQCWEKASGRALAAKIIPYHPKDKTAVLREYEALKGLRHPHLAQLHAAYLSPRH
LVLILELCSGPELLPCLAERASYSESEVKDYLWQMLSATQYLHNQHILHLDLRSENMIIT
EYNLLKVVDLGNAQSLSQEKVLPSDKFKDYLETMAPELLEGQGAVPQTDIWAIGVTAFIM
LSAEYPVSSEGARDLQRGLRKGLVRLSRCYAGLSGGAVAFLRSTLCAQPWGRPCASSCLQ
CPWL
TEEGPACSRPAPVTFPTARLRVFVRNREKRRALLYKRHNLAQVR
Sequence length 7968
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Cytoskeleton in muscle cells   NRAGE signals death through JNK
Rho GTPase cycle
G alpha (12/13) signalling events
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
Colorectal cancer Colorectal Carcinoma rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
Hypertrophic cardiomyopathy Hypertrophic Cardiomyopathy rs63750743, rs104894655, rs121908987, rs587776643, rs28938173, rs121908989, rs121908991, rs267606977, rs267606978, rs193922384, rs121909374, rs886041030, rs886041031, rs121909375, rs121909377
View all (752 more)
16205939, 11448995, 26573135, 17716621
Unknown
Disease term Disease name Evidence References Source
Myopathy dilated cardiomyopathy GenCC
Atrial Fibrillation Atrial Fibrillation GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenoma Associate 29575536
Arrhythmogenic Right Ventricular Dysplasia Associate 28750076
Breast Neoplasms Associate 36877839
Carcinogenesis Associate 29575536, 36877839
Carcinoma Adenosquamous Associate 31958074
Cardiomyopathies Associate 34957489, 38159459
Cardiomyopathy Dilated Associate 26406308, 32916098
Cardiomyopathy Hypertrophic Associate 34601892
Cardiovascular Diseases Associate 34601892
Colorectal Neoplasms Associate 33624434, 33714943