Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID	7402
Gene name	Utrophin
Gene symbol	UTRN
Synonyms (NCBI Gene)	DMDLDRPDRP1
Chromosome	6
Chromosome location	6q24.2
Summary	This gene shares both structural and functional similarities with the dystrophin gene. It contains an actin-binding N-terminus, a triple coiled-coil repeat central region, and a C-terminus that consists of protein-protein interaction motifs which interact

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miRTarBase ID	miRNA	Experiments	Reference
MIRT001788	hsa-miR-206	Reporter assay	17030984
MIRT023543	hsa-miR-1-3p	Proteomics	18668040
MIRT030742	hsa-miR-21-5p	Microarray	18591254
MIRT052224	hsa-let-7b-5p	CLASH	23622248
MIRT043263	hsa-miR-331-3p	CLASH	23622248
MIRT042097	hsa-miR-484	CLASH	23622248
MIRT040990	hsa-miR-505-3p	CLASH	23622248
MIRT037857	hsa-miR-455-3p	CLASH	23622248
MIRT528790	hsa-miR-4714-3p	PAR-CLIP	22012620
MIRT528789	hsa-miR-6793-3p	PAR-CLIP	22012620
MIRT528788	hsa-miR-1915-5p	PAR-CLIP	22012620
MIRT528787	hsa-miR-26a-1-3p	PAR-CLIP	22012620
MIRT528786	hsa-miR-26a-2-3p	PAR-CLIP	22012620
MIRT528785	hsa-miR-4313	PAR-CLIP	22012620
MIRT528783	hsa-miR-3136-3p	PAR-CLIP	22012620
MIRT528790	hsa-miR-4714-3p	PAR-CLIP	22012620
MIRT528789	hsa-miR-6793-3p	PAR-CLIP	22012620
MIRT528788	hsa-miR-1915-5p	PAR-CLIP	22012620
MIRT528787	hsa-miR-26a-1-3p	PAR-CLIP	22012620
MIRT528786	hsa-miR-26a-2-3p	PAR-CLIP	22012620
MIRT528785	hsa-miR-4313	PAR-CLIP	22012620
MIRT528783	hsa-miR-3136-3p	PAR-CLIP	22012620
MIRT1481329	hsa-let-7a	CLIP-seq
MIRT1481330	hsa-let-7b	CLIP-seq
MIRT1481331	hsa-let-7c	CLIP-seq
MIRT1481332	hsa-let-7d	CLIP-seq
MIRT1481333	hsa-let-7e	CLIP-seq
MIRT1481334	hsa-let-7f	CLIP-seq
MIRT1481335	hsa-let-7g	CLIP-seq
MIRT1481336	hsa-let-7i	CLIP-seq
MIRT1481337	hsa-miR-1255a	CLIP-seq
MIRT1481338	hsa-miR-1255b	CLIP-seq
MIRT1481339	hsa-miR-1256	CLIP-seq
MIRT1481340	hsa-miR-1272	CLIP-seq
MIRT1481341	hsa-miR-135a	CLIP-seq
MIRT1481342	hsa-miR-135b	CLIP-seq
MIRT1481343	hsa-miR-153	CLIP-seq
MIRT1481344	hsa-miR-202	CLIP-seq
MIRT1481345	hsa-miR-21	CLIP-seq
MIRT1481346	hsa-miR-3119	CLIP-seq
MIRT1481347	hsa-miR-3124-3p	CLIP-seq
MIRT1481348	hsa-miR-3134	CLIP-seq
MIRT1481349	hsa-miR-3137	CLIP-seq
MIRT1481350	hsa-miR-3185	CLIP-seq
MIRT1481351	hsa-miR-3200-5p	CLIP-seq
MIRT1481352	hsa-miR-323-5p	CLIP-seq
MIRT1481353	hsa-miR-3647-3p	CLIP-seq
MIRT1481354	hsa-miR-3673	CLIP-seq
MIRT1481355	hsa-miR-380	CLIP-seq
MIRT1481356	hsa-miR-3927	CLIP-seq
MIRT1481357	hsa-miR-4422	CLIP-seq
MIRT1481358	hsa-miR-4426	CLIP-seq
MIRT1481359	hsa-miR-4446-3p	CLIP-seq
MIRT1481360	hsa-miR-4458	CLIP-seq
MIRT1481361	hsa-miR-4500	CLIP-seq
MIRT1481362	hsa-miR-4527	CLIP-seq
MIRT1481363	hsa-miR-4642	CLIP-seq
MIRT1481364	hsa-miR-4647	CLIP-seq
MIRT1481365	hsa-miR-4649-3p	CLIP-seq
MIRT1481366	hsa-miR-4650-3p	CLIP-seq
MIRT1481367	hsa-miR-4662b	CLIP-seq
MIRT1481368	hsa-miR-4672	CLIP-seq
MIRT1481369	hsa-miR-4675	CLIP-seq
MIRT1481370	hsa-miR-4699-5p	CLIP-seq
MIRT1481371	hsa-miR-4741	CLIP-seq
MIRT1481372	hsa-miR-4753-3p	CLIP-seq
MIRT1481373	hsa-miR-4768-5p	CLIP-seq
MIRT1481374	hsa-miR-553	CLIP-seq
MIRT1481375	hsa-miR-570	CLIP-seq
MIRT1481376	hsa-miR-590-5p	CLIP-seq
MIRT1481377	hsa-miR-628-5p	CLIP-seq
MIRT1481378	hsa-miR-890	CLIP-seq
MIRT1481379	hsa-miR-9	CLIP-seq
MIRT1481380	hsa-miR-98	CLIP-seq
MIRT1481341	hsa-miR-135a	CLIP-seq
MIRT1481342	hsa-miR-135b	CLIP-seq
MIRT2144828	hsa-miR-141	CLIP-seq
MIRT2144829	hsa-miR-200a	CLIP-seq
MIRT1481347	hsa-miR-3124-3p	CLIP-seq
MIRT2144830	hsa-miR-598	CLIP-seq
MIRT2365145	hsa-miR-103a	CLIP-seq
MIRT2365146	hsa-miR-107	CLIP-seq
MIRT2365147	hsa-miR-1184	CLIP-seq
MIRT1481337	hsa-miR-1255a	CLIP-seq
MIRT1481338	hsa-miR-1255b	CLIP-seq
MIRT2365148	hsa-miR-1277	CLIP-seq
MIRT2365149	hsa-miR-1283	CLIP-seq
MIRT2365150	hsa-miR-142-5p	CLIP-seq
MIRT2365151	hsa-miR-15a	CLIP-seq
MIRT2365152	hsa-miR-15b	CLIP-seq
MIRT2365153	hsa-miR-16	CLIP-seq
MIRT2365154	hsa-miR-195	CLIP-seq
MIRT2365155	hsa-miR-219-1-3p	CLIP-seq
MIRT2365156	hsa-miR-3166	CLIP-seq
MIRT2365157	hsa-miR-3198	CLIP-seq
MIRT2365158	hsa-miR-3671	CLIP-seq
MIRT2365159	hsa-miR-3677-3p	CLIP-seq
MIRT2365160	hsa-miR-3678-3p	CLIP-seq
MIRT2365161	hsa-miR-3920	CLIP-seq
MIRT2365162	hsa-miR-424	CLIP-seq
MIRT2365163	hsa-miR-4309	CLIP-seq
MIRT2365164	hsa-miR-432	CLIP-seq
MIRT2365165	hsa-miR-4418	CLIP-seq
MIRT1481357	hsa-miR-4422	CLIP-seq
MIRT1481358	hsa-miR-4426	CLIP-seq
MIRT2365166	hsa-miR-4494	CLIP-seq
MIRT2365167	hsa-miR-4633-3p	CLIP-seq
MIRT2365168	hsa-miR-4640-5p	CLIP-seq
MIRT1481364	hsa-miR-4647	CLIP-seq
MIRT2365169	hsa-miR-4653-3p	CLIP-seq
MIRT1481367	hsa-miR-4662b	CLIP-seq
MIRT1481370	hsa-miR-4699-5p	CLIP-seq
MIRT2365170	hsa-miR-4726-5p	CLIP-seq
MIRT2365171	hsa-miR-4762-3p	CLIP-seq
MIRT2365172	hsa-miR-4762-5p	CLIP-seq
MIRT2365173	hsa-miR-4771	CLIP-seq
MIRT2365174	hsa-miR-497	CLIP-seq
MIRT2365175	hsa-miR-509-3-5p	CLIP-seq
MIRT2365176	hsa-miR-509-5p	CLIP-seq
MIRT2365177	hsa-miR-5096	CLIP-seq
MIRT2365178	hsa-miR-548ag	CLIP-seq
MIRT2365179	hsa-miR-548ai	CLIP-seq
MIRT2365180	hsa-miR-548m	CLIP-seq
MIRT2365181	hsa-miR-633	CLIP-seq
MIRT1481378	hsa-miR-890	CLIP-seq
MIRT2365161	hsa-miR-3920	CLIP-seq
MIRT1481358	hsa-miR-4426	CLIP-seq
MIRT1481364	hsa-miR-4647	CLIP-seq
MIRT1481367	hsa-miR-4662b	CLIP-seq
MIRT2365171	hsa-miR-4762-3p	CLIP-seq
MIRT1481329	hsa-let-7a	CLIP-seq
MIRT1481330	hsa-let-7b	CLIP-seq
MIRT1481331	hsa-let-7c	CLIP-seq
MIRT1481332	hsa-let-7d	CLIP-seq
MIRT1481333	hsa-let-7e	CLIP-seq
MIRT1481334	hsa-let-7f	CLIP-seq
MIRT1481335	hsa-let-7g	CLIP-seq
MIRT1481336	hsa-let-7i	CLIP-seq
MIRT2365145	hsa-miR-103a	CLIP-seq
MIRT2365146	hsa-miR-107	CLIP-seq
MIRT2365147	hsa-miR-1184	CLIP-seq
MIRT1481337	hsa-miR-1255a	CLIP-seq
MIRT1481338	hsa-miR-1255b	CLIP-seq
MIRT1481341	hsa-miR-135a	CLIP-seq
MIRT1481342	hsa-miR-135b	CLIP-seq
MIRT2365151	hsa-miR-15a	CLIP-seq
MIRT2365152	hsa-miR-15b	CLIP-seq
MIRT2365153	hsa-miR-16	CLIP-seq
MIRT2365154	hsa-miR-195	CLIP-seq
MIRT2658923	hsa-miR-1973	CLIP-seq
MIRT1481344	hsa-miR-202	CLIP-seq
MIRT1481346	hsa-miR-3119	CLIP-seq
MIRT1481347	hsa-miR-3124-3p	CLIP-seq
MIRT1481348	hsa-miR-3134	CLIP-seq
MIRT2658924	hsa-miR-3161	CLIP-seq
MIRT2658925	hsa-miR-3163	CLIP-seq
MIRT2365156	hsa-miR-3166	CLIP-seq
MIRT2658926	hsa-miR-3179	CLIP-seq
MIRT1481351	hsa-miR-3200-5p	CLIP-seq
MIRT1481352	hsa-miR-323-5p	CLIP-seq
MIRT2658927	hsa-miR-3613-3p	CLIP-seq
MIRT2365160	hsa-miR-3678-3p	CLIP-seq
MIRT2658928	hsa-miR-3689d	CLIP-seq
MIRT2658929	hsa-miR-371b-5p	CLIP-seq
MIRT2658930	hsa-miR-3908	CLIP-seq
MIRT1481356	hsa-miR-3927	CLIP-seq
MIRT2658931	hsa-miR-3942-5p	CLIP-seq
MIRT2658932	hsa-miR-410	CLIP-seq
MIRT2365162	hsa-miR-424	CLIP-seq
MIRT2658933	hsa-miR-4263	CLIP-seq
MIRT2658934	hsa-miR-4275	CLIP-seq
MIRT2658935	hsa-miR-4305	CLIP-seq
MIRT2365165	hsa-miR-4418	CLIP-seq
MIRT1481357	hsa-miR-4422	CLIP-seq
MIRT1481358	hsa-miR-4426	CLIP-seq
MIRT1481360	hsa-miR-4458	CLIP-seq
MIRT2365166	hsa-miR-4494	CLIP-seq
MIRT1481361	hsa-miR-4500	CLIP-seq
MIRT2658936	hsa-miR-4503	CLIP-seq
MIRT1481364	hsa-miR-4647	CLIP-seq
MIRT1481365	hsa-miR-4649-3p	CLIP-seq
MIRT1481366	hsa-miR-4650-3p	CLIP-seq
MIRT1481367	hsa-miR-4662b	CLIP-seq
MIRT1481370	hsa-miR-4699-5p	CLIP-seq
MIRT2658937	hsa-miR-4703-5p	CLIP-seq
MIRT2658938	hsa-miR-4766-3p	CLIP-seq
MIRT2365173	hsa-miR-4771	CLIP-seq
MIRT2365174	hsa-miR-497	CLIP-seq
MIRT2365175	hsa-miR-509-3-5p	CLIP-seq
MIRT2365176	hsa-miR-509-5p	CLIP-seq
MIRT2365177	hsa-miR-5096	CLIP-seq
MIRT2658939	hsa-miR-543	CLIP-seq
MIRT2658940	hsa-miR-548ac	CLIP-seq
MIRT2658941	hsa-miR-548ae	CLIP-seq
MIRT2365178	hsa-miR-548ag	CLIP-seq
MIRT2365179	hsa-miR-548ai	CLIP-seq
MIRT2658942	hsa-miR-548aj	CLIP-seq
MIRT2658943	hsa-miR-548am	CLIP-seq
MIRT2658944	hsa-miR-548d-3p	CLIP-seq
MIRT2365180	hsa-miR-548m	CLIP-seq
MIRT2658945	hsa-miR-548x	CLIP-seq
MIRT2658946	hsa-miR-548z	CLIP-seq
MIRT2658947	hsa-miR-576-5p	CLIP-seq
MIRT2658948	hsa-miR-888	CLIP-seq
MIRT1481380	hsa-miR-98	CLIP-seq
MIRT1481329	hsa-let-7a	CLIP-seq
MIRT1481330	hsa-let-7b	CLIP-seq
MIRT1481331	hsa-let-7c	CLIP-seq
MIRT1481332	hsa-let-7d	CLIP-seq
MIRT1481333	hsa-let-7e	CLIP-seq
MIRT1481334	hsa-let-7f	CLIP-seq
MIRT1481335	hsa-let-7g	CLIP-seq
MIRT1481336	hsa-let-7i	CLIP-seq
MIRT2365145	hsa-miR-103a	CLIP-seq
MIRT2365146	hsa-miR-107	CLIP-seq
MIRT2365147	hsa-miR-1184	CLIP-seq
MIRT1481337	hsa-miR-1255a	CLIP-seq
MIRT1481338	hsa-miR-1255b	CLIP-seq
MIRT1481341	hsa-miR-135a	CLIP-seq
MIRT1481342	hsa-miR-135b	CLIP-seq
MIRT2365151	hsa-miR-15a	CLIP-seq
MIRT2365152	hsa-miR-15b	CLIP-seq
MIRT2365153	hsa-miR-16	CLIP-seq
MIRT2365154	hsa-miR-195	CLIP-seq
MIRT1481344	hsa-miR-202	CLIP-seq
MIRT1481346	hsa-miR-3119	CLIP-seq
MIRT1481347	hsa-miR-3124-3p	CLIP-seq
MIRT1481348	hsa-miR-3134	CLIP-seq
MIRT2365156	hsa-miR-3166	CLIP-seq
MIRT1481351	hsa-miR-3200-5p	CLIP-seq
MIRT1481352	hsa-miR-323-5p	CLIP-seq
MIRT2365160	hsa-miR-3678-3p	CLIP-seq
MIRT2658928	hsa-miR-3689d	CLIP-seq
MIRT2658930	hsa-miR-3908	CLIP-seq
MIRT1481356	hsa-miR-3927	CLIP-seq
MIRT2658931	hsa-miR-3942-5p	CLIP-seq
MIRT2365162	hsa-miR-424	CLIP-seq
MIRT2658933	hsa-miR-4263	CLIP-seq
MIRT2658935	hsa-miR-4305	CLIP-seq
MIRT2365165	hsa-miR-4418	CLIP-seq
MIRT1481357	hsa-miR-4422	CLIP-seq
MIRT1481358	hsa-miR-4426	CLIP-seq
MIRT1481360	hsa-miR-4458	CLIP-seq
MIRT2365166	hsa-miR-4494	CLIP-seq
MIRT1481361	hsa-miR-4500	CLIP-seq
MIRT2658936	hsa-miR-4503	CLIP-seq
MIRT1481364	hsa-miR-4647	CLIP-seq
MIRT1481365	hsa-miR-4649-3p	CLIP-seq
MIRT1481366	hsa-miR-4650-3p	CLIP-seq
MIRT1481367	hsa-miR-4662b	CLIP-seq
MIRT1481370	hsa-miR-4699-5p	CLIP-seq
MIRT2658937	hsa-miR-4703-5p	CLIP-seq
MIRT2658938	hsa-miR-4766-3p	CLIP-seq
MIRT2365173	hsa-miR-4771	CLIP-seq
MIRT2365174	hsa-miR-497	CLIP-seq
MIRT2365175	hsa-miR-509-3-5p	CLIP-seq
MIRT2365176	hsa-miR-509-5p	CLIP-seq
MIRT2658947	hsa-miR-576-5p	CLIP-seq
MIRT1481380	hsa-miR-98	CLIP-seq

Show/Hide all (4)

Transcription factor	Regulation	Reference
EN1	Repression	21672318
ERF	Repression	17507653
SP1	Activation	11237613
SP3	Activation	11237613

Show/Hide all (43)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001954	Process	Positive regulation of cell-matrix adhesion	IMP	19786618
GO:0003779	Function	Actin binding	IDA	16803572
GO:0003779	Function	Actin binding	IEA
GO:0005178	Function	Integrin binding	IPI	16803572
GO:0005515	Function	Protein binding	IPI	8576247, 10767429, 16777071, 18838687, 19786618, 33961781, 35271311
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	19786618
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005856	Component	Cytoskeleton	TAS	8977119
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	8977119
GO:0005929	Component	Cilium	IDA
GO:0006936	Process	Muscle contraction	IEA
GO:0006936	Process	Muscle contraction	TAS	9288751
GO:0007517	Process	Muscle organ development	TAS	9288751
GO:0008270	Function	Zinc ion binding	IEA
GO:0016010	Component	Dystrophin-associated glycoprotein complex	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	1426262
GO:0017166	Function	Vinculin binding	IEA
GO:0017166	Function	Vinculin binding	IPI	16803572
GO:0019901	Function	Protein kinase binding	IPI	16803572
GO:0030175	Component	Filopodium	IDA	16803572
GO:0031527	Component	Filopodium membrane	IDA	16803572
GO:0031527	Component	Filopodium membrane	IEA
GO:0031594	Component	Neuromuscular junction	IEA
GO:0032991	Component	Protein-containing complex	IDA	18468998
GO:0032991	Component	Protein-containing complex	IEA
GO:0036064	Component	Ciliary basal body	IDA
GO:0042383	Component	Sarcolemma	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070938	Component	Contractile ring	IDA	16803572
GO:0099536	Process	Synaptic signaling	IBA
GO:1902305	Process	Regulation of sodium ion transmembrane transport	ISS	21677768

MIM	HGNC	e!Ensembl
128240	12635	ENSG00000152818

P46939

Protein name

Utrophin (Dystrophin-related protein 1) (DRP-1)

Protein function

May play a role in anchoring the cytoskeleton to the plasma membrane.

PDB

1BHD , 1QAG , 6M5G

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00307	CH	31 → 136	Calponin homology (CH) domain	Domain
PF00307	CH	150 → 256	Calponin homology (CH) domain	Domain
PF00435	Spectrin	309 → 417	Spectrin repeat	Domain
PF00435	Spectrin	418 → 526	Spectrin repeat	Domain
PF00435	Spectrin	1016 → 1122	Spectrin repeat	Domain
PF00435	Spectrin	1125 → 1230	Spectrin repeat	Domain
PF00435	Spectrin	1544 → 1649	Spectrin repeat	Domain
PF00435	Spectrin	1652 → 1753	Spectrin repeat	Domain
PF00435	Spectrin	1976 → 2081	Spectrin repeat	Domain
PF00435	Spectrin	2230 → 2333	Spectrin repeat	Domain
PF00435	Spectrin	2444 → 2556	Spectrin repeat	Domain
PF00435	Spectrin	2691 → 2797	Spectrin repeat	Domain
PF00397	WW	2815 → 2843	WW domain	Domain
PF09068	EF-hand_2	2846 → 2964	EF hand	Domain
PF09069	EF-hand_3	2968 → 3059	EF-hand	Domain
PF00569	ZZ	3064 → 3109	Zinc finger, ZZ type	Domain

Tissue specificity

TISSUE SPECIFICITY: Isoform 1 has high expression in muscle. Isoforms Up70 and Up140 were found in all the adult and fetal tissues tested and relatively abundant in lung and kidney. {ECO:0000269|PubMed:10369873}.

Sequence

MAKYGEHEASPDNGQNEFSDIIKSRSDEHNDVQKKTFTKWINARFSKSGKPPINDMFTDL
KDGRKLLDLLEGLTGTSLPKERGSTRVHALNNVNRVLQVLHQNNVELVNIGGTDIVDGNH
KLTLGLLWSIILHWQVKDVMKDVMSDLQQTNSEKILLSWVRQTTRPYSQVNVLNFTTSWT
DGLAFNAVLHRHKPDLFSWDKVVKMSPIERLEHAFSKAQTYLGIEKLLDPEDVAVQLPDK
KSIIMYLTSLFEVLPQQVTIDAIREVETLPRKYKKECEEEAINIQSTAPEEEHESPRAET
PSTVTEVDMDLDSYQIALEEVLTWLLSAEDTFQEQDDISDDVEEVKDQFATHEAFMMELT
AHQSSVGSVLQAGNQLITQGTLSDEEEFEIQEQMTLLNARWEALRVESMDRQSRLHDVLM
ELQKKQLQQLSAWLTLTEERIQKMETCPLDDDVKSLQKLLEEHKSLQSDLEAEQVKVNSL
THMVVIVDENSGESATAILEDQLQKLGERWTAVCRWTEERWNRLQEINILWQELLEEQCL
LKAWLTEKEEALNKVQTSNFKDQKELSVSVRRLAILKEDMEMKRQTLDQLSEIGQDVGQL
LDNSKASKKINSDSEELTQRWDSLVQRLEDSSNQVTQAVAKLGMSQIPQKDLLETVRVRE
QAITKKSKQELPPPPPPKKRQIHVDIEAKKKFDAISAELLNWILKWKTAIQTTEIKEYMK
MQDTSEMKKKLKALEKEQRERIPRADELNQTGQILVEQMGKEGLPTEEIKNVLEKVSSEW
KNVSQHLEDLERKIQLQEDINAYFKQLDELEKVIKTKEEWVKHTSISESSRQSLPSLKDS
CQRELTNLLGLHPKIEMARASCSALMSQPSAPDFVQRGFDSFLGRYQAVQEAVEDRQQHL
ENELKGQPGHAYLETLKTLKDVLNDSENKAQVSLNVLNDLAKVEKALQEKKTLDEILENQ
KPALHKLAEETKALEKNVHPDVEKLYKQEFDDVQGKWNKLKVLVSKDLHLLEEIALTLRA
FEADSTVIEKWMDGVKDFLMKQQAAQGDDAGLQRQLDQCSAFVNEIETIESSLKNMKEIE
TNLRSGPVAGIKTWVQTRLGDYQTQLEKLSKEIATQKSRLSESQEKAANLKKDLAEMQEW
MTQAEEEYLERDFEYKSPEELESAVEEMKRAKEDVLQKEVRVKILKDNIKLLAAKVPSGG
QELTSELNVVLENYQLLCNRIRGKCHTLEEVWSCWIELLHYLDLETTWLNTLEERMKSTE
VLPEKTDAVNEALESLESVLRHPADNRTQIRELGQTLIDGGILDDIISEKLEAFNSRYED
LSHLAESKQISLEKQLQVLRETDQMLQVLQESLGELDKQLTTYLTDRIDAFQVPQEAQKI
QAEISAHELTLEELRRNMRSQPLTSPESRTARGGSQMDVLQRKLREVSTKFQLFQKPANF
EQRMLDCKRVLDGVKAELHVLDVKDVDPDVIQTHLDKCMKLYKTLSEVKLEVETVIKTGR
HIVQKQQTDNPKGMDEQLTSLKVLYNDLGAQVTEGKQDLERASQLARKMKKEAASLSEWL
SATETELVQKSTSEGLLGDLDTEISWAKNVLKDLEKRKADLNTITESSAALQNLIEGSEP
ILEERLCVLNAGWSRVRTWTEDWCNTLMNHQNQLEIFDGNVAHISTWLYQAEALLDEIEK
KPTSKQEEIVKRLVSELDDANLQVENVRDQALILMNARGSSSRELVEPKLAELNRNFEKV
SQHIKSAKLLIAQEPLYQCLVTTETFETGVPFSDLEKLENDIENMLKFVEKHLESSDEDE
KMDEESAQIEEVLQRGEEMLHQPMEDNKKEKIRLQLLLLHTRYNKIKAIPIQQRKMGQLA
SGIRSSLLPTDYLVEINKILLCMDDVELSLNVPELNTAIYEDFSFQEDSLKNIKDQLDKL
GEQIAVIHEKQPDVILEASGPEAIQIRDTLTQLNAKWDRINRMYSDRKGCFDRAMEEWRQ
FHCDLNDLTQWITEAEELLVDTCAPGGSLDLEKARIHQQELEVGISSHQPSFAALNRTGD
GIVQKLSQADGSFLKEKLAGLNQRWDAIVAEVKDRQPRLKGESKQVMKYRHQLDEIICWL
TKAEHAMQKRSTTELGENLQELRDLTQEMEVHAEKLKWLNRTELEMLSDKSLSLPERDKI
SESLRTVNMTWNKICREVPTTLKECIQEPSSVSQTRIAAHPNVQKVVLVSSASDIPVQSH
RTSEISIPADLDKTITELADWLVLIDQMLKSNIVTVGDVEEINKTVSRMKITKADLEQRH
PQLDYVFTLAQNLKNKASSSDMRTAITEKLERVKNQWDGTQHGVELRQQQLEDMIIDSLQ
WDDHREETEELMRKYEARLYILQQARRDPLTKQISDNQILLQELGPGDGIVMAFDNVLQK
LLEEYGSDDTRNVKETTEYLKTSWINLKQSIADRQNALEAEWRTVQASRRDLENFLKWIQ
EAETTVNVLVDASHRENALQDSILARELKQQMQDIQAEIDAHNDIFKSIDGNRQKMVKAL
GNSEEATMLQHRLDDMNQRWNDLKAKSASIRAHLEASAEKWNRLLMSLEELIKWLNMKDE
ELKKQMPIGGDVPALQLQYDHCKALRRELKEKEYSVLNAVDQARVFLADQPIEAPEEPRR
NLQSKTELTPEERAQKIAKAMRKQSSEVKEKWESLNAVTSNWQKQVDKALEKLRDLQGAM
DDLDADMKEAESVRNGWKPVGDLLIDSLQDHIEKIMAFREEIAPINFKVKTVNDLSSQLS
PLDLHPSLKMSRQLDDLNMRWKLLQVSVDDRLKQLQEAHRDFGPSSQHFLSTSVQLPWQR
SISHNKVPYYINHQTQTTCWDHPKMTELFQSLADLNNVRFSAYRTAIKIRRLQKALCLDL
LELSTTNEIFKQHKLNQNDQLLSVPDVINCLTTTYDGLEQMHKDLVNVPLCVDMCLNWLL
NVYDTGRTGKIRVQSLKIGLMSLSKGLLEEKYRYLFKEVAGPTEMCDQRQLGLLLHDAIQ
IPRQLGEVAAFGGSNIEPSVRSCFQQNNNKPEISVKEFIDWMHLEPQSMVWLPVLHRVAA
AETAKHQAKCNICKECPIVGFRYRSLKHFNYDVCQSCFFSGRTAKGHKLHYPMVEYCIPT
TSGEDVRDFTKVLKNKFRSKKYFAKHPRLGYLPVQTVLEGDNLETPITLISMWPEHYDPS
QSPQLFHDDTHSRIEQYATRLAQMERTNGSFLTDSSSTTGSVEDEHALIQQYCQTLGGES
PVSQPQSPAQILKSVEREERGELERIIADLEEEQRNLQVEYEQLKDQHLRRGLPVGSPPE
SIISPHHTSEDSELIAEAKLLRQHKGRLEARMQILEDHNKQLESQLHRLRQLLEQPESDS
RINGVSPWASPQHSALSYSLDPDASGPQFHQAAGEDLLAPPHDTSTDLTEVMEQIHSTFP
SCCPNVPSRPQAM

Sequence length

3433

Interactions

View interactions

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Duchenne muscular dystrophy	Likely pathogenic	rs766709360	RCV003989997

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cholangiocarcinoma	Benign	rs7756909, rs6570632	RCV005915243 RCV005916873
Familial cancer of breast	Likely benign	rs141979832	RCV005903007
Gastric cancer	Benign; Likely benign	rs6570632, rs141979832	RCV005916871 RCV005903009
Hepatocellular carcinoma	Benign	rs7756909, rs6570632, rs13208386	RCV005915242 RCV005916870 RCV005922231
Malignant tumor of urinary bladder	Likely benign	rs141979832	RCV005903008
Melanoma	Likely benign	rs142932212	RCV005904553
Thymoma	Benign	rs13208386	RCV005922232
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs371618253	RCV005932223
Uterine carcinosarcoma	Benign	rs6570632	RCV005916872

Show/Hide Text Mining Associations (55)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Antiphospholipid Syndrome	Associate	22529290
Arthrogryposis	Associate	20583184
Autism Spectrum Disorder	Associate	23333625
Breast Neoplasms	Associate	24416132
Carcinoma Hepatocellular	Associate	30981110
Carcinoma Ovarian Epithelial	Associate	27509055
Cardiomyopathy infantile histiocytoid	Associate	25822260
Charcot Marie Tooth disease Type 2B	Associate	35851620
Colorectal Neoplasms	Associate	37816729
Death	Associate	31127452
Diabetes Gestational	Associate	32144130
Diabetes Mellitus Type 2	Associate	27448167
Diabetes Mellitus Type 2	Stimulate	33426802
Fanconi Anemia	Associate	37047537
Fibroma	Associate	20696777
Glioblastoma	Associate	36922509
Head and Neck Neoplasms	Associate	35313071
Heart Diseases	Associate	26577411
Hereditary Breast and Ovarian Cancer Syndrome	Associate	36104324
Huntington Disease	Associate	39284371
Hypoxia Brain	Associate	27731374
Insulin Resistance	Associate	30363990
Leukemia B Cell	Associate	19786618
Leukemia Lymphocytic Chronic B Cell	Associate	19786618
Lewy Body Disease	Associate	34983390
Lung Neoplasms	Associate	33853833
Melanoma	Associate	32562785
Melanoma Cutaneous Malignant	Associate	40191195
Migraine Disorders	Associate	32918390
Migraine without Aura	Associate	32918390
Mitochondrial Diseases	Associate	22800932, 22955947, 23239023, 25390895, 29448246, 29726929, 30981110, 31062606, 35851620, 39284371
Muscular Dystrophies	Associate	35790299
Muscular Dystrophy Congenital Megaconial Type	Inhibit	34518586
Muscular Dystrophy Duchenne	Stimulate	12619170
Muscular Dystrophy Duchenne	Associate	1951635, 21672318, 22028826, 26686765, 27069119, 34521928, 37060897, 7919618
Myopathy with Giant Abnormal Mitochondria	Associate	30999892
Myositis	Associate	12619170
Neoplasm Metastasis	Stimulate	35313071
Neoplasms	Inhibit	20696777, 35790299
Neoplasms	Associate	25822260, 27509055, 29606096, 30862036, 30981110, 31127452, 33853833, 34964241, 35313071, 37816729
Nerve Degeneration	Associate	35026838
Neuroblastoma	Associate	36037157
Neurotoxicity Syndromes	Associate	23239023, 31062606
Osteoporosis	Associate	26577411
Ovarian Neoplasms	Associate	27509055
Parkinson Disease	Associate	34983390
Rectal Neoplasms	Associate	29241219
Restless Legs Syndrome	Associate	32918390
Retinal Dystrophies	Associate	37060897
Rhabdomyosarcoma	Associate	21672318
Sjogren's Syndrome	Associate	35359935
Sleep Deprivation	Associate	22955947, 25390895, 28079887, 28132899, 28330939, 30862036, 32245975, 35129048, 37962528
Squamous Cell Carcinoma of Head and Neck	Associate	31127452
Thyroid Neoplasms	Associate	25822260
Urinary Bladder Neoplasms	Associate	37694778, 37975230

UTRN (utrophin)