OBSCN (obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF)

Gene

• Entrez ID: 84033
• Gene name: Obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
• Gene symbol: OBSCN
• Synonyms (NCBI Gene): ARHGEF30, RHABDO1, UNC89
• Chromosome: 1
• Chromosome location: 1q42.13
• Summary: 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 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

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
MIRT1201674	hsa-let-7e	CLIP-seq
MIRT1201675	hsa-let-7f	CLIP-seq
MIRT1201676	hsa-let-7g	CLIP-seq
MIRT1201677	hsa-let-7i	CLIP-seq
MIRT1201678	hsa-miR-1294	CLIP-seq
MIRT1201679	hsa-miR-1321	CLIP-seq
MIRT1201680	hsa-miR-202	CLIP-seq
MIRT1201681	hsa-miR-2467-3p	CLIP-seq
MIRT1201682	hsa-miR-2861	CLIP-seq
MIRT1201683	hsa-miR-3126-5p	CLIP-seq
MIRT1201684	hsa-miR-3154	CLIP-seq
MIRT1201685	hsa-miR-3158-5p	CLIP-seq
MIRT1201686	hsa-miR-3653	CLIP-seq
MIRT1201687	hsa-miR-3678-3p	CLIP-seq
MIRT1201688	hsa-miR-4419a	CLIP-seq
MIRT1201689	hsa-miR-4458	CLIP-seq
MIRT1201690	hsa-miR-4459	CLIP-seq
MIRT1201691	hsa-miR-4487	CLIP-seq
MIRT1201692	hsa-miR-4500	CLIP-seq
MIRT1201693	hsa-miR-4510	CLIP-seq
MIRT1201694	hsa-miR-4641	CLIP-seq
MIRT1201695	hsa-miR-4646-5p	CLIP-seq
MIRT1201696	hsa-miR-4658	CLIP-seq
MIRT1201697	hsa-miR-4663	CLIP-seq
MIRT1201698	hsa-miR-4728-5p	CLIP-seq
MIRT1201699	hsa-miR-4739	CLIP-seq
MIRT1201700	hsa-miR-4747-5p	CLIP-seq
MIRT1201701	hsa-miR-4756-5p	CLIP-seq
MIRT1201702	hsa-miR-4758-5p	CLIP-seq
MIRT1201703	hsa-miR-4765	CLIP-seq
MIRT1201704	hsa-miR-4779	CLIP-seq
MIRT1201705	hsa-miR-628-5p	CLIP-seq
MIRT1201706	hsa-miR-665	CLIP-seq
MIRT1201707	hsa-miR-98	CLIP-seq
MIRT2058215	hsa-miR-3922-5p	CLIP-seq
MIRT2286624	hsa-miR-1910	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	TAS
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
GO:0005547	Function	Phosphatidylinositol-3,4,5-trisphosphate binding	IDA	28826662
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0008289	Function	Lipid binding	IEA
GO:0008307	Function	Structural constituent of muscle	NAS	11717165
GO:0010314	Function	Phosphatidylinositol-5-phosphate binding	IDA	28826662
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0016740	Function	Transferase activity	IEA
GO:0030016	Component	Myofibril	NAS	11717165
GO:0030018	Component	Z disc	IEA
GO:0030018	Component	Z disc	ISS	11717165
GO:0030154	Process	Cell differentiation	IEA
GO:0030506	Function	Ankyrin binding	IPI	18782775
GO:0031430	Component	M band	IEA
GO:0031430	Component	M band	ISS	11717165, 18782775
GO:0031432	Function	Titin binding	IPI	11717165
GO:0032266	Function	Phosphatidylinositol-3-phosphate binding	IDA	28826662
GO:0036309	Process	Protein localization to M-band	ISS	18782775
GO:0042383	Component	Sarcolemma	IEA
GO:0043325	Function	Phosphatidylinositol-3,4-bisphosphate binding	IDA	28826662
GO:0045214	Process	Sarcomere organization	TAS	18782775
GO:0046872	Function	Metal ion binding	IEA
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS
GO:0070273	Function	Phosphatidylinositol-4-phosphate binding	IDA	28826662
GO:0106310	Function	Protein serine kinase activity	IEA
GO:1902531	Process	Regulation of intracellular signal transduction	IEA
GO:1902936	Function	Phosphatidylinositol bisphosphate binding	IEA

Other IDs

• MIM: 608616
• HGNC: 15719
• e!Ensembl: 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
  DGDLYRLTILDLALGDSGQYVCRARNAIGEAFAAVGLQVDAEAACAEQAPHFLLRPTSIR
  VREGSEATFRCRVGGSPRPAVSWSKDGRRLGEPDGPRVRVEELGEASALRIRAARPRDGG
  TYEVRAENPLGAASAAAALVVDSDAADTASRPGTSTAALLAHLQRRREAMRAEGAPASPP
  STGTRTCTVTEGKHARLSCYVTGEPKPETVWKKDGQLVTEGRRHVVYEDAQENFVLKILF
  CKQSDRGLYTCTASNLVGQTYSSVLVVVREPAVPFKKRLQDLEVREKESATFLCEVPQPS
  TEAAWFKEETRLWASAKYGIEEEGTERRLTVRNVSADDDAVYICETPEGSRTVAELAVQG
  NLLRKLPRKTAVRVGDTAMFCVELAVPVGPVHWLRNQEEVVAGGRVAISAEGTRHTLTIS
  QCCLEDVGQVAFMAGDCQTSTQFCVSAPRKPPLQPPVDPVVKARMESSVILSWSPPPHGE
  RPVTIDGYLVEKKKLGTYTWIRCHEAEWVATPELTVADVAEEGNFQFRVSALNSFGQSPY
  LEFPGTVHLAPKLAVRTPLKAVQAVEGGEVTFSVDLTVASAGEWFLDGQALKASSVYEIH
  CDRTRHTLTIREVPASLHGAQLKFVANGIESSIRMEVRAAPGLTANKPPAAAAREVLARL
  HEEAQLLAELSDQAAAVTWLKDGRTLSPGPKYEVQASAGRRVLLVRDVARDDAGLYECVS
  RGGRIAYQLSVQGLARFLHKDMAGSCVDAVAGGPAQFECETSEAHVHVHWYKDGMELGHS
  GERFLQEDVGTRHRLVAATVTRQDEGTYSCRVGEDSVDFRLRVSEPKVVFAKEQLARRKL
  QAEAGASATLSCEVAQAQTEVTWYKDGKKLSSSSKVCMEATGCTRRLVVQQAGQADAGEY
  SCEAGGQRLSFHLDVKEPKVVFAKDQVAHSEVQAEAGASATLSCEVAQAQTEVMWYKDGK
  KLSSSLKVHVEAKGCRRRLVVQQAGKTDAGDYSCEARGQRVSFRLHITEPKMMFAKEQSV
  HNEVQAEAGASAMLSCEVAQAQTEVTWYKDGKKLSSSSKVGMEVKGCTRRLVLPQAGKAD
  AGEYSCEAGGQRVSFHLHITEPKGVFAKEQSVHNEVQAEAGTTAMLSCEVAQPQTEVTWY
  KDGKKLSSSSKVRMEVKGCTRRLVVQQVGKADAGEYSCEAGGQRVSFQLHITEPKAVFAK
  EQLVHNEVRTEAGASATLSCEVAQAQTEVTWYKDGKKLSSSSKVRIEAAGCMRQLVVQQA
  GQADAGEYTCEAGGQRLSFHLDVSEPKAVFAKEQLAHRKVQAEAGAIATLSCEVAQAQTE
  VTWYKDGKKLSSSSKVRMEAVGCTRRLVVQQACQADTGEYSCEAGGQRLSFSLDVAEPKV
  VFAKEQPVHREVQAQAGASTTLSCEVAQAQTEVMWYKDGKKLSFSSKVRMEAVGCTRRLV
  VQQAGQAVAGEYSCEAGSQRLSFHLHVAEPKAVFAKEQPASREVQAEAGTSATLSCEVAQ
  AQTEVTWYKDGKKLSSSSKVRMEAVGCTRRLVVQEAGQADAGEYSCKAGDQRLSFHLHVA
  EPKVVFAKEQPAHREVQAEAGASATLSCEVAQAQTEVTWYKDGKKLSSSSKVRVEAVGCT
  RRLVVQQAGQAEAGEYSCEAGGQQLSFRLQVAELEPQISERPCRREPLVVKEHEDIILTA
  TLATPSAATVTWLKDGVEIRRSKRHETASQGDTHTLTVHGAQVLDSAIYSCRVGAEGQDF
  PVQVEEVAAKFCRLLEPVCGELGGTVTLACELSPACAEVVWRCGNTQLRVGKRFQMVAEG
  PVRSLTVLGLRAEDAGEYVCESRDDHTSAQLTVSVPRVVKFMSGLSTVVAEEGGEATFQC
  VVSPSDVAVVWFRDGALLQPSEKFAISQSGASHSLTISDLVLEDAGQITVEAEGASSSAA
  LRVREAPVLFKKKLEPQTVEERSSVTLEVELTRPWPELRWTRNATALAPGKNVEIHAEGA
  RHRLVLHNVGFADRGFFGCETPDDKTQAKLTVEMRQVRLVRGLQAVEAREQGTATMEVQL
  SHADVDGSWTRDGLRFQQGPTCHLAVRGPMHTLTLSGLRPEDSGLMVFKAEGVHTSARLV
  VTELPVSFSRPLQDVVTTEKEKVTLECELSRPNVDVRWLKDGVELRAGKTMAIAAQGACR
  SLTIYRCEFADQGVYVCDAHDAQSSASVKVQGRTYTLIYRRVLAEDAGEIQFVAENAESR
  AQLRVKELPVTLVRPLRDKIAMEKHRGVLECQVSRASAQVRWFKGSQELQPGPKYELVSD
  GLYRKLIISDVHAEDEDTYTCDAGDVKTSAQFFVEEQSITIVRGLQDVTVMEPAPAWFEC
  ETSIPSVRPPKWLLGKTVLQAGGNVGLEQEGTVHRLMLRRTCSTMTGPVHFTVGKSRSSA
  RLVVSDIPVVLTRPLEPKTGRELQSVVLSCDFRPAPKAVQWYKDDTPLSPSEKFKMSLEG
  QMAELRILRLMPADAGVYRCQAGSAHSSTEVTVEAREVTVTGPLQDAEATEEGWASFSCE
  LSHEDEEVEWSLNGMPLYNDSFHEISHKGRRHTLVLKSIQRADAGIVRASSLKVSTSARL
  EVRVKPVVFLKALDDLSAEERGTLALQCEVSDPEAHVVWRKDGVQLGPSDKYDFLHTAGT
  RGLVVHDVSPEDAGLYTCHVGSEETRARVRVHDLHVGITKRLKTMEVLEGESCSFECVLS
  HESASDPAMWTVGGKTVGSSSRFQATRQGRKYILVVREAAPSDAGEVVFSVRGLTSKASL
  IVRERPAAIIKPLEDQWVAPGEDVELRCELSRAGTPVHWLKDRKAIRKSQKYDVVCEGTM
  AMLVIRGASLKDAGEYTCEVEASKSTASLHVEEKANCFTEELTNLQVEEKGTAVFTCKTE
  HPAATVTWRKGLLELRASGKHQPSQEGLTLRLTISALEKADSDTYTCDIGQAQSRAQLLV
  QGRRVHIIEDLEDVDVQEGSSATFRCRISPANYEPVHWFLDKTPLHANELNEIDAQPGGY
  HVLTLRQLALKDSGTIYFEAGDQRASAALRVTEKPSVFSRELTDATITEGEDLTLVCETS
  TCDIPVCWTKDGKTLRGSARCQLSHEGHRAQLLITGATLQDSGRYKCEAGGACSSSIVRV
  HARPVRFQEALKDLEVLEGGAATLRCVLSSVAAPVKWCYGNNVLRPGDKYSLRQEGAMLE
  LVVRNLRPQDSGRYSCSFGDQTTSATLTVTALPAQFIGKLRNKEATEGATATLRCELSKA
  APVEWRKGSETLRDGDRYCLRQDGAMCELQIRGLAMVDAAEYSCVCGEERTSASLTIRPM
  PAHFIGRLRHQESIEGATATLRCELSKAAPVEWRKGRESLRDGDRHSLRQDGAVCELQIC
  GLAVADAGEYSCVCGEERTSATLTVKALPAKFTEGLRNEEAVEGATAMLWCELSKVAPVE
  WRKGPENLRDGDRYILRQEGTRCELQICGLAMADAGEYLCVCGQERTSATLTIRALPARF
  IEDVKNQEAREGATAVLQCELNSAAPVEWRKGSETLRDGDRYSLRQDGTKCELQIRGLAM
  ADTGEYSCVCGQERTSAMLTVRALPIKFTEGLRNEEATEGATAVLRCELSKMAPVEWWKG
  HETLRDGDRHSLRQDGARCELQIRGLVAEDAGEYLCMCGKERTSAMLTVRAMPSKFIEGL
  RNEEATEGDTATLWCELSKAAPVEWRKGHETLRDGDRHSLRQDGSRCELQIRGLAVVDAG
  EYSCVCGQERTSATLTVRALPARFIEDVKNQEAREGATAVLQCELSKAAPVEWRKGSETL
  RGGDRYSLRQDGTRCELQIHGLSVADTGEYSCVCGQERTSATLTVRAPQPVFREPLQSLQ
  AEEGSTATLQCELSEPTATVVWSKGGLQLQANGRREPRLQGCTAELVLQDLQREDTGEYT
  CTCGSQATSATLTVTAAPVRFLRELQHQEVDEGGTAHLCCELSRAGASVEWRKGSLQLFP
  CAKYQMVQDGAAAELLVRGVEQEDAGDYTCDTGHTQSMASLSVRVPRPKFKTRLQSLEQE
  TGDIARLCCQLSDAESGAVVQWLKEGVELHAGPKYEMRSQGATRELLIHQLEAKDTGEYA
  CVTGGQKTAASLRVTEPEVTIVRGLVDAEVTADEDVEFSCEVSRAGATGVQWCLQGLPLQ
  SNEVTEVAVRDGRIHTLRLKGVTPEDAGTVSFHLGNHASSAQLTVRAPEVTILEPLQDVQ
  LSEGQDASFQCRLSRASGQEARWALGGVPLQANEMNDITVEQGTLHLLTLHKVTLEDAGT
  VSFHVGTCSSEAQLKVTAKNTVVRGLENVEALEGGEALFECQLSQPEVAAHTWLLDDEPV
  HTSENAEVVFFENGLRHLLLLKNLRPQDSCRVTFLAGDMVTSAFLTVRGWRLEILEPLKN
  AAVRAGAQACFTCTLSEAVPVGEASWYINGAAVQPDDSDWTVTADGSHHALLLRSAQPHH
  AGEVTFACRDAVASARLTVLGLPDPPEDAEVVARSSHTVTLSWAAPMSDGGGGLCGYRVE
  VKEGATGQWRLCHELVPGPECVVDGLAPGETYRFRVAAVGPVGAGEPVHLPQTVRLAEPP
  KPVPPQPSAPESRQVAAGEDVSLELEVVAEAGEVIWHKGMERIQPGGRFEVVSQGRQQML
  VIKGFTAEDQGEYHCGLAQGSICPAAATFQVALSPASVDEAPQPSLPPEAAQEGDLHLLW
  EALARKRRMSREPTLDSISELPEEDGRSQRLPQEAEEVAPDLSEGYSTADELARTGDADL
  SHTSSDDESRAGTPSLVTYLKKAGRPGTSPLASKVGAPAAPSVKPQQQQEPLAAVRPPLG
  DLSTKDLGDPSMDKAAVKIQAAFKGYKVRKEMKQQEGPMFSHTFGDTEAQVGDALRLECV
  VASKADVRARWLKDGVELTDGRHHHIDQLGDGTCSLLITGLDRADAGCYTCQVSNKFGQV
  THSACVVVSGSESEAESSSGGELDDAFRRAARRLHRLFRTKSPAEVSDEELFLSADEGPA
  EPEEPADWQTYREDEHFICIRFEALTEARQAVTRFQEMFATLGIGVEIKLVEQGPRRVEM
  CISKETPAPVVPPEPLPSLLTSDAAPVFLTELQNQEVQDGYPVSFDCVVTGQPMPSVRWF
  KDGKLLEEDDHYMINEDQQGGHQLIITAVVPADMGVYRCLAENSMGVSSTKAELRVDLTS
  TDYDTAADATESSSYFSAQGYLSSREQEGTESTTDEGQLPQVVEELRDLQVAPGTRLAKF
  QLKVKGYPAPRLYWFKDGQPLTASAHIRMTDKKILHTLEIISVTREDSGQYAAYISNAMG
  AAYSSARLLVRGPDEPEEKPASDVHEQLVPPRMLERFTPKKVKKGSSITFSVKVEGRPVP
  TVHWLREEAERGVLWIGPDTPGYTVASSAQQHSLVLLDVGRQHQGTYTCIASNAAGQALC
  SASLHVSGLPKVEEQEKVKEALISTFLQGTTQAISAQGLETASFADLGGQRKEEPLAAKE
  ALGHLSLAEVGTEEFLQKLTSQITEMVSAKITQAKLQVPGGDSDEDSKTPSASPRHGRSR
  PSSSIQESSSESEDGDARGEIFDIYVVTADYLPLGAEQDAITLREGQYVEVLDAAHPLRW
  LVRTKPTKSSPSRQGWVSPAYLDRRLKLSPEWGAAEAPEFPGEAVSEDEYKARLSSVIQE
  LLSSEQAFVEELQFLQSHHLQHLERCPHVPIAVAGQKAVIFRNVRDIGRFHSSFLQELQQ
  CDTDDDVAMCFIKNQAAFEQYLEFLVGRVQAESVVVSTAIQEFYKKYAEEALLAGDPSQP
  PPPPLQHYLEQPVERVQRYQALLKELIRNKARNRQNCALLEQAYAVVSALPQRAENKLHV
  SLMENYPGTLQALGEPIRQGHFIVWEGAPGARMPWKGHNRHVFLFRNHLVICKPRRDSRT
  DTVSYVFRNMMKLSSIDLNDQVEGDDRAFEVWQEREDSVRKYLLQARTAIIKSSWVKEIC
  GIQQRLALPVWRPPDFEEELADCTAELGETVKLACRVTGTPKPVISWYKDGKAVQVDPHH
  ILIEDPDGSCALILDSLTGVDSGQYMCFAASAAGNCSTLGKILVQVPPRFVNKVRASPFV
  EGEDAQFTCTIEGAPYPQIRWYKDGALLTTGNKFQTLSEPRSGLLVLVIRAASKEDLGLY
  ECELVNRLGSARASAELRIQSPMLQAQEQCHREQLVAAVEDTTLERADQEVTSVLKRLLG
  PKAPGPSTGDLTGPGPCPRGAPALQETGSQPPVTGTSEAPAVPPRVPQPLLHEGPEQEPE
  AIARAQEWTVPIRMEGAAWPGAGTGELLWDVHSHVVRETTQRTYTYQAIDTHTARPPSMQ
  VTIEDVQAQTGGTAQFEAIIEGDPQPSVTWYKDSVQLVDSTRLSQQQEGTTYSLVLRHVA
  SKDAGVYTCLAQNTGGQVLCKAELLVLGGDNEPDSEKQSHRRKLHSFYEVKEEIGRGVFG
  FVKRVQHKGNKILCAAKFIPLRSRTRAQAYRERDILAALSHPLVTGLLDQFETRKTLILI
  LELCSSEELLDRLYRKGVVTEAEVKVYIQQLVEGLHYLHSHGVLHLDIKPSNILMVHPAR
  EDIKICDFGFAQNITPAELQFSQYGSPEFVSPEIIQQNPVSEASDIWAMGVISYLSLTCS
  SPFAGESDRATLLNVLEGRVSWSSPMAAHLSEDAKDFIKATLQRAPQARPSAAQCLSHPW
  FLKSMPAEEAHFINTKQLKFLLARSRWQRSLMSYKSILVMRSIPELLRGPPDSPSLGVAR
  HLCRDTGGSSSSSSSSDNELAPFARAKSLPPSPVTHSPLLHPRGFLRPSASLPEEAEASE
  RSTEAPAPPASPEGAGPPAAQGCVPRHSVIRSLFYHQAGESPEHGALAPGSRRHPARRRH
  LLKGGYIAGALPGLREPLMEHRVLEEEAAREEQATLLAKAPSFETALRLPASGTHLAPGH
  SHSLEHDSPSTPRPSSEACGEAQRLPSAPSGGAPIRDMGHPQGSKQLPSTGGHPGTAQPE
  RPSPDSPWGQPAPFCHPKQGSAPQEGCSPHPAVAPCPPGSFPPGSCKEAPLVPSSPFLGQ
  PQAPPAPAKASPPLDSKMGPGDISLPGRPKPGPCSSPGSASQASSSQVSSLRVGSSQVGT
  EPGPSLDAEGWTQEAEDLSDSTPTLQRPQEQATMRKFSLGGRGGYAGVAGYGTFAFGGDA
  GGMLGQGPMWARIAWAVSQSEEEEQEEARAESQSEEQQEARAESPLPQVSARPVPEVGRA
  PTRSSPEPTPWEDIGQVSLVQIRDLSGDAEAADTISLDISEVDPAYLNLSDLYDIKYLPF
  EFMIFRKVPKSAQPEPPSPMAEEELAEFPEPTWPWPGELGPHAGLEITEESEDVDALLAE
  AAVGRKRKWSSPSRSLFHFPGRHLPLDEPAELGLRERVKASVEHISRILKGRPEGLEKEG
  PPRKKPGLASFRLSGLKSWDRAPTFLRELSDETVVLGQSVTLACQVSAQPAAQATWSKDG
  APLESSSRVLISATLKNFQLLTILVVVAEDLGVYTCSVSNALGTVTTTGVLRKAERPSSS
  PCPDIGEVYADGVLLVWKPVESYGPVTYIVQCSLEGGSWTTLASDIFDCCYLTSKLSRGG
  TYTFRTACVSKAGMGPYSSPSEQVLLGGPSHLASEEESQGRSAQPLPSTKTFAFQTQIQR
  GRFSVVRQCWEKASGRALAAKIIPYHPKDKTAVLREYEALKGLRHPHLAQLHAAYLSPRH
  LVLILELCSGPELLPCLAERASYSESEVKDYLWQMLSATQYLHNQHILHLDLRSENMIIT
  EYNLLKVVDLGNAQSLSQEKVLPSDKFKDYLETMAPELLEGQGAVPQTDIWAIGVTAFIM
  LSAEYPVSSEGARDLQRGLRKGLVRLSRCYAGLSGGAVAFLRSTLCAQPWGRPCASSCLQ
  CPWLTEEGPACSRPAPVTFPTARLRVFVRNREKRRALLYKRHNLAQVR

• Sequence length: 7968

Pathways

KEGG:

Cytoskeleton in muscle cells

Reactome:

NRAGE signals death through JNK
Rho GTPase cycle
G alpha (12/13) signalling events

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Hearing loss, autosomal recessive 120	Pathogenic	rs749025131	RCV003148583
OBSCN-related disorder	Pathogenic; Likely pathogenic	rs1206678898, rs2545712483	RCV004750834 RCV003393211
Rhabdomyolysis, susceptibility to, 1	Likely pathogenic; Pathogenic	rs200849058, rs531253434, rs2531495848	RCV003152651 RCV003148582 RCV004560348
Short stature	Likely pathogenic	rs1480591236	RCV000736180

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Acute myeloid leukemia	Benign; Uncertain significance	rs75801409, rs777276147, rs55704206, rs74142677, rs1771481	RCV005923565 RCV005927131 RCV005936907 RCV005933565 RCV005903446
Adrenocortical carcinoma, hereditary	Benign	rs111616349, rs115555077	RCV005932903 RCV005912341
Cervical cancer	Benign; Likely benign	rs75801409, rs55704206, rs116650932, rs74142677, rs12040506, rs117627593	RCV005923566 RCV005936910 RCV005933512 RCV005933566 RCV005906495 RCV005906090
Cholangiocarcinoma	Likely benign	rs189620214	RCV005927296
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	rs3795810	RCV005931584
Clear cell carcinoma of kidney	Benign; Likely benign	rs75801409, rs369705683, rs186870748, rs140749919, rs55883237, rs55704206, rs201268096, rs116650932, rs1771481, rs117627593	RCV005923567 RCV005931871 RCV005932006 RCV005926367 RCV005932913 RCV005936911 RCV005933232 RCV005933513 RCV005903448 RCV005906091
Colon adenocarcinoma	Likely benign; Benign	rs369078292, rs111616349, rs200271514, rs115555077	RCV005931915 RCV005932901 RCV005932907 RCV005912340
Familial cancer of breast	Likely benign; Benign	rs189809636, rs453140, rs372059649	RCV005932897 RCV005937313 RCV005935531
Familial pancreatic carcinoma	Benign	rs186870748, rs3795810, rs41305731	RCV005932007 RCV005931581 RCV005937026
Gastric cancer	Uncertain significance; Benign	rs768956667, rs186870748, rs368780726, rs55883237, rs116650932, rs117625801	RCV005931929 RCV005932008 RCV005927297 RCV005932914 RCV005933514 RCV005908403
Hepatocellular carcinoma	Likely benign; Benign	rs371440359, rs55883237, rs3795810, rs55704206, rs187064744, rs12040506	RCV005931925 RCV005932911 RCV005931578 RCV005936908 RCV005939369 RCV005906493
Lung cancer	Benign; Likely benign	rs186870748, rs189809636, rs116650932, rs74142677, rs1771481	RCV005932013 RCV005932900 RCV005933518 RCV005933568 RCV005903451
Lymphoma	Benign	rs186870748, rs55704206	RCV005932009 RCV005936913
Malignant lymphoma, large B-cell, diffuse	Benign	rs3795810	RCV005931582
Malignant tumor of esophagus	Uncertain significance; Benign; Likely benign	rs751925970, rs1558356982, rs111616349, rs55883237, rs1771481, rs12040506, rs117627593	RCV005931846 RCV005927284 RCV005932902 RCV005932912 RCV005903447 RCV005906494 RCV005906089
Malignant tumor of urinary bladder	Benign; Likely benign	rs146227444, rs200271514	RCV005928642 RCV005932908
Melanoma	Benign; Uncertain significance	rs75801409, rs768956667, rs111616349	RCV005923572 RCV005931930 RCV005932906
Nonpapillary renal cell carcinoma	Benign	rs55704206, rs41305731	RCV005936909 RCV005937025
Ovarian cancer	Benign	rs3795810	RCV005931579
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs75801409, rs186870748, rs2532072379, rs189620214, rs189809636, rs111616349, rs200271514, rs116650932, rs117627593, rs369558704	RCV005923569 RCV005932010 RCV005927130 RCV005927295 RCV005932898 RCV005932904 RCV005932909 RCV005933515 RCV005906093 RCV005904569
Pancreatic adenocarcinoma	Likely benign	rs754957194	RCV005903152
Sarcoma	Benign	rs75801409, rs55704206, rs41305731, rs74142677, rs117627593	RCV005923568 RCV005936912 RCV005937027 RCV005933567 RCV005906092
Thymoma	Benign; Likely benign	rs75801409, rs186870748, rs55704206, rs116650932, rs12040506, rs117627593, rs115555077	RCV005923570 RCV005932011 RCV005936914 RCV005933517 RCV005906496 RCV005906095 RCV005912342
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs75801409, rs186870748, rs189809636, rs111616349, rs200271514, rs55704206, rs541390050, rs1771481, rs117627593	RCV005923571 RCV005932012 RCV005932899 RCV005932905 RCV005932910 RCV005936915 RCV005939370 RCV005903450 RCV005906096
Uterine carcinosarcoma	Benign	rs3795810, rs116650932, rs1771481, rs117627593	RCV005931583 RCV005933516 RCV005903449 RCV005906094
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs75801409, rs369705683, rs186870748, rs140749919, rs116650932, rs12040506, rs373806868, rs115555077	RCV005923573 RCV005931872 RCV005932014 RCV005926368 RCV005933519 RCV005906497 RCV005908625 RCV005912343
Uveal melanoma	Likely benign; Benign	rs777471831, rs3795810	RCV005931914 RCV005931580

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
Death	Associate	34601892, 34728707
Distal Myopathies	Associate	29073160
Gastroschisis	Associate	31075877
Glioblastoma	Associate	38166029
Keratoconus	Associate	37108600
Leiomyosarcoma	Associate	23731771
Lymphatic Metastasis	Associate	31958074
Moyamoya Disease	Associate	26530418
Muscle Cramp	Associate	38159459
Muscular Dystrophies	Associate	29073160
Myalgia	Associate	38159459
Myoglobinuria	Associate	38159459
Myopathy with Lactic Acidosis Hereditary	Associate	38159459
Neoplasm Metastasis	Associate	31958074, 36877839
Neoplasms	Associate	22441987, 25261370, 25381817, 27340278, 29575536, 31958074, 33232371
Neoplasms	Stimulate	33624434
Ovarian Neoplasms	Associate	30786925
Psoriasis	Associate	39344312
Rhabdomyolysis	Associate	34957489, 38159459
Stomach Neoplasms	Associate	32034058
Sudden Unexpected Death in Epilepsy	Associate	34728707
Triple Negative Breast Neoplasms	Associate	36877839