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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Hearing loss, autosomal recessive 120	Pathogenic	rs749025131	RCV003148583	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
OBSCN-related disorder	Pathogenic; Likely pathogenic	rs1206678898, rs2545712483	RCV004750834 RCV003393211	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rhabdomyolysis, susceptibility to, 1	Likely pathogenic; Pathogenic	rs200849058, rs531253434, rs2531495848	RCV003152651 RCV003148582 RCV004560348	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short stature	Likely pathogenic	rs1480591236	RCV000736180	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 120	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DILATED CARDIOMYOPATHY	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC RECURRENT MYOGLOBINURIA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign; Benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPERTROPHIC CARDIOMYOPATHY	—	ClinGen, Disgenet, GWAS catalog ClinGen, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic adenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	BEFREE	28750076		★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	28750076	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	22251166		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	36877839	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	29575536, 36877839	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	34957489, 38159459	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	26406308, 32916098	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	34601892	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	26406308, 30099631		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	15345656, 26406308, 30099631		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	34601892	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	22441987		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	33624434, 33714943	Associate	★☆☆☆☆ Found in Text Mining only
Distal Muscular Dystrophies	Distal Muscular Dystrophy	BEFREE	29073160		★☆☆☆☆ Found in Text Mining only
Distal Myopathies	Distal myopathy	Pubtator	29073160	Associate	★☆☆☆☆ Found in Text Mining only
Fibromuscular Dysplasia	Fibromuscular Dysplasia	BEFREE	26147384		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	LHGDN	17360660		★☆☆☆☆ Found in Text Mining only
Gastroschisis	Gastroschisis	Pubtator	31075877	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	38166029	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	28630914, 30099631		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	CLINGEN_DG	11448995, 16205939, 17716621, 26573135		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	17716621, 30099631		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	LHGDN	17716621		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	17716621		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	37108600	Associate	★☆☆☆☆ Found in Text Mining only
leiomyosarcoma	Leiomyosarcoma	LHGDN	17360660		★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	23731771	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	31958074	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17440062		★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya Disease	BEFREE	26147384		★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya disease	Pubtator	26530418	Associate	★☆☆☆☆ Found in Text Mining only
Moyamoya disease 1	Moyamoya disease	BEFREE	26147384		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	29073160		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	28756711		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	30786925	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	39344312	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyolysis	Rhabdomyolysis	Pubtator	34957489, 38159459	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	29510755		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	32034058	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	36877839	Associate	★☆☆☆☆ Found in Text Mining only