LRP1B (LDL receptor related protein 1B)

Gene

• Entrez ID: 53353
• Gene name: LDL receptor related protein 1B
• Gene symbol: LRP1B
• Synonyms (NCBI Gene): LRP-1B, LRP-DIT, LRPDIT
• Chromosome: 2
• Chromosome location: 2q22.1-q22.2
• Summary: This gene encodes a member of the low density lipoprotein (LDL) receptor family. These receptors play a wide variety of roles in normal cell function and development due to their interactions with multiple ligands. Disruption of this gene has been reporte

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016828	hsa-miR-335-5p	Microarray	18185580
MIRT020555	hsa-miR-155-5p	Other	20584899
MIRT028914	hsa-miR-26b-5p	Microarray	19088304
MIRT053461	hsa-miR-200c-3p	Microarray	23807165
MIRT713286	hsa-miR-5692a	HITS-CLIP	19536157
MIRT713285	hsa-miR-106b-3p	HITS-CLIP	19536157
MIRT713286	hsa-miR-5692a	HITS-CLIP	19536157
MIRT713285	hsa-miR-106b-3p	HITS-CLIP	19536157
MIRT1117869	hsa-miR-103a	CLIP-seq
MIRT1117870	hsa-miR-106a	CLIP-seq
MIRT1117871	hsa-miR-106b	CLIP-seq
MIRT1117872	hsa-miR-107	CLIP-seq
MIRT1117873	hsa-miR-1323	CLIP-seq
MIRT1117874	hsa-miR-15a	CLIP-seq
MIRT1117875	hsa-miR-15b	CLIP-seq
MIRT1117876	hsa-miR-16	CLIP-seq
MIRT1117877	hsa-miR-17	CLIP-seq
MIRT1117878	hsa-miR-195	CLIP-seq
MIRT1117879	hsa-miR-20a	CLIP-seq
MIRT1117880	hsa-miR-20b	CLIP-seq
MIRT1117881	hsa-miR-214	CLIP-seq
MIRT1117882	hsa-miR-2467-3p	CLIP-seq
MIRT1117883	hsa-miR-25	CLIP-seq
MIRT1117884	hsa-miR-3074-3p	CLIP-seq
MIRT1117885	hsa-miR-3117-5p	CLIP-seq
MIRT1117886	hsa-miR-3125	CLIP-seq
MIRT1117887	hsa-miR-3143	CLIP-seq
MIRT1117888	hsa-miR-3148	CLIP-seq
MIRT1117889	hsa-miR-32	CLIP-seq
MIRT1117890	hsa-miR-3613-5p	CLIP-seq
MIRT1117891	hsa-miR-3614-3p	CLIP-seq
MIRT1117892	hsa-miR-3619-5p	CLIP-seq
MIRT1117893	hsa-miR-363	CLIP-seq
MIRT1117894	hsa-miR-367	CLIP-seq
MIRT1117895	hsa-miR-3678-3p	CLIP-seq
MIRT1117896	hsa-miR-3688-3p	CLIP-seq
MIRT1117897	hsa-miR-3916	CLIP-seq
MIRT1117898	hsa-miR-3923	CLIP-seq
MIRT1117899	hsa-miR-3928	CLIP-seq
MIRT1117900	hsa-miR-424	CLIP-seq
MIRT1117901	hsa-miR-425	CLIP-seq
MIRT1117902	hsa-miR-4279	CLIP-seq
MIRT1117903	hsa-miR-4290	CLIP-seq
MIRT1117904	hsa-miR-4291	CLIP-seq
MIRT1117905	hsa-miR-4310	CLIP-seq
MIRT1117906	hsa-miR-4325	CLIP-seq
MIRT1117907	hsa-miR-4517	CLIP-seq
MIRT1117908	hsa-miR-4687-5p	CLIP-seq
MIRT1117909	hsa-miR-4699-5p	CLIP-seq
MIRT1117910	hsa-miR-4709-3p	CLIP-seq
MIRT1117911	hsa-miR-4742-3p	CLIP-seq
MIRT1117912	hsa-miR-4756-3p	CLIP-seq
MIRT1117913	hsa-miR-495	CLIP-seq
MIRT1117914	hsa-miR-497	CLIP-seq
MIRT1117915	hsa-miR-498	CLIP-seq
MIRT1117916	hsa-miR-519a	CLIP-seq
MIRT1117917	hsa-miR-519b-3p	CLIP-seq
MIRT1117918	hsa-miR-519c-3p	CLIP-seq
MIRT1117919	hsa-miR-519d	CLIP-seq
MIRT1117920	hsa-miR-543	CLIP-seq
MIRT1117921	hsa-miR-548o	CLIP-seq
MIRT1117922	hsa-miR-548p	CLIP-seq
MIRT1117923	hsa-miR-548t	CLIP-seq
MIRT1117924	hsa-miR-577	CLIP-seq
MIRT1117925	hsa-miR-592	CLIP-seq
MIRT1117926	hsa-miR-597	CLIP-seq
MIRT1117927	hsa-miR-761	CLIP-seq
MIRT1117928	hsa-miR-922	CLIP-seq
MIRT1117929	hsa-miR-92a	CLIP-seq
MIRT1117930	hsa-miR-92b	CLIP-seq
MIRT1117931	hsa-miR-93	CLIP-seq
MIRT1117883	hsa-miR-25	CLIP-seq
MIRT1117889	hsa-miR-32	CLIP-seq
MIRT1117893	hsa-miR-363	CLIP-seq
MIRT1117894	hsa-miR-367	CLIP-seq
MIRT1117898	hsa-miR-3923	CLIP-seq
MIRT1117906	hsa-miR-4325	CLIP-seq
MIRT1117915	hsa-miR-498	CLIP-seq
MIRT1117922	hsa-miR-548p	CLIP-seq
MIRT1117929	hsa-miR-92a	CLIP-seq
MIRT1117930	hsa-miR-92b	CLIP-seq
MIRT1117883	hsa-miR-25	CLIP-seq
MIRT1117889	hsa-miR-32	CLIP-seq
MIRT1117893	hsa-miR-363	CLIP-seq
MIRT1117894	hsa-miR-367	CLIP-seq
MIRT1117898	hsa-miR-3923	CLIP-seq
MIRT1117906	hsa-miR-4325	CLIP-seq
MIRT2033345	hsa-miR-4704-3p	CLIP-seq
MIRT1117915	hsa-miR-498	CLIP-seq
MIRT2033346	hsa-miR-548n	CLIP-seq
MIRT1117922	hsa-miR-548p	CLIP-seq
MIRT1117923	hsa-miR-548t	CLIP-seq
MIRT1117929	hsa-miR-92a	CLIP-seq
MIRT1117930	hsa-miR-92b	CLIP-seq
MIRT2263680	hsa-miR-1283	CLIP-seq
MIRT2263681	hsa-miR-2116	CLIP-seq
MIRT1117883	hsa-miR-25	CLIP-seq
MIRT1117889	hsa-miR-32	CLIP-seq
MIRT2263682	hsa-miR-3202	CLIP-seq
MIRT2263683	hsa-miR-361-5p	CLIP-seq
MIRT1117893	hsa-miR-363	CLIP-seq
MIRT1117894	hsa-miR-367	CLIP-seq
MIRT1117898	hsa-miR-3923	CLIP-seq
MIRT2263684	hsa-miR-4273	CLIP-seq
MIRT2263685	hsa-miR-4277	CLIP-seq
MIRT1117906	hsa-miR-4325	CLIP-seq
MIRT2263686	hsa-miR-4493	CLIP-seq
MIRT2263687	hsa-miR-4533	CLIP-seq
MIRT2263688	hsa-miR-4659a-3p	CLIP-seq
MIRT2263689	hsa-miR-4659b-3p	CLIP-seq
MIRT2263690	hsa-miR-4677-5p	CLIP-seq
MIRT2033345	hsa-miR-4704-3p	CLIP-seq
MIRT2263691	hsa-miR-4796-5p	CLIP-seq
MIRT1117915	hsa-miR-498	CLIP-seq
MIRT2263692	hsa-miR-548c-3p	CLIP-seq
MIRT2033346	hsa-miR-548n	CLIP-seq
MIRT1117922	hsa-miR-548p	CLIP-seq
MIRT1117923	hsa-miR-548t	CLIP-seq
MIRT2263693	hsa-miR-890	CLIP-seq
MIRT1117929	hsa-miR-92a	CLIP-seq
MIRT1117930	hsa-miR-92b	CLIP-seq
MIRT1117883	hsa-miR-25	CLIP-seq
MIRT1117889	hsa-miR-32	CLIP-seq
MIRT1117893	hsa-miR-363	CLIP-seq
MIRT1117894	hsa-miR-367	CLIP-seq
MIRT1117898	hsa-miR-3923	CLIP-seq
MIRT1117906	hsa-miR-4325	CLIP-seq
MIRT1117915	hsa-miR-498	CLIP-seq
MIRT1117922	hsa-miR-548p	CLIP-seq
MIRT1117929	hsa-miR-92a	CLIP-seq
MIRT1117930	hsa-miR-92b	CLIP-seq
MIRT2563023	hsa-miR-452	CLIP-seq
MIRT2563024	hsa-miR-4676-3p	CLIP-seq
MIRT2563025	hsa-miR-548a-5p	CLIP-seq
MIRT2563026	hsa-miR-548ab	CLIP-seq
MIRT2563027	hsa-miR-548ak	CLIP-seq
MIRT2563028	hsa-miR-548b-5p	CLIP-seq
MIRT2563029	hsa-miR-548c-5p	CLIP-seq
MIRT2563030	hsa-miR-548d-5p	CLIP-seq
MIRT2563031	hsa-miR-548h	CLIP-seq
MIRT2563032	hsa-miR-548i	CLIP-seq
MIRT2563033	hsa-miR-548j	CLIP-seq
MIRT2033346	hsa-miR-548n	CLIP-seq
MIRT2563034	hsa-miR-548w	CLIP-seq
MIRT2563035	hsa-miR-548y	CLIP-seq
MIRT2563036	hsa-miR-559	CLIP-seq
MIRT2563023	hsa-miR-452	CLIP-seq
MIRT2563024	hsa-miR-4676-3p	CLIP-seq
MIRT2563025	hsa-miR-548a-5p	CLIP-seq
MIRT2563026	hsa-miR-548ab	CLIP-seq
MIRT2563027	hsa-miR-548ak	CLIP-seq
MIRT2563028	hsa-miR-548b-5p	CLIP-seq
MIRT2563029	hsa-miR-548c-5p	CLIP-seq
MIRT2563030	hsa-miR-548d-5p	CLIP-seq
MIRT2563031	hsa-miR-548h	CLIP-seq
MIRT2563032	hsa-miR-548i	CLIP-seq
MIRT2563033	hsa-miR-548j	CLIP-seq
MIRT2033346	hsa-miR-548n	CLIP-seq
MIRT2563034	hsa-miR-548w	CLIP-seq
MIRT2563035	hsa-miR-548y	CLIP-seq
MIRT2563036	hsa-miR-559	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005041	Function	Low-density lipoprotein particle receptor activity	IBA	21873635
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0006898	Process	Receptor-mediated endocytosis	TAS	10766186
GO:0015031	Process	Protein transport	TAS	10766186
GO:0016021	Component	Integral component of membrane	IEA
GO:0043235	Component	Receptor complex	IBA	21873635
GO:0043235	Component	Receptor complex	IDA	23382219

Other IDs

• MIM: 608766
• HGNC: 6693
• e!Ensembl: ENSG00000168702

Protein

• UniProt ID: Q9NZR2
• Protein name: Low-density lipoprotein receptor-related protein 1B (LRP-1B) (Low-density lipoprotein receptor-related protein-deleted in tumor) (LRP-DIT)
• Protein function: Potential cell surface proteins that bind and internalize ligands in the process of receptor-mediated endocytosis.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00057	Ldl_recept_a	30 → 69	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	75 → 113	Low-density lipoprotein receptor domain class A	Repeat
  PF07645	EGF_CA	155 → 193	Calcium-binding EGF domain	Domain
  PF00058	Ldl_recept_b	295 → 335	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	568 → 608	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	611 → 654	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	657 → 704	Low-density lipoprotein receptor repeat class B	Repeat
  PF14670	FXa_inhibition	798 → 833		Domain
  PF00057	Ldl_recept_a	843 → 881	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	884 → 922	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	925 → 962	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	965 → 1002	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	1004 → 1042	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	1051 → 1088	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	1093 → 1131	Low-density lipoprotein receptor domain class A	Repeat
  PF14670	FXa_inhibition	1176 → 1212		Domain
  PF00058	Ldl_recept_b	1347 → 1387	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	1390 → 1434	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	1618 → 1658	Low-density lipoprotein receptor repeat class B	Repeat
  PF14670	FXa_inhibition	1838 → 1874		Domain
  PF00058	Ldl_recept_b	1965 → 2005	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	2008 → 2049	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	2330 → 2372	Low-density lipoprotein receptor repeat class B	Repeat
  PF00057	Ldl_recept_a	2508 → 2547	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	2550 → 2586	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	2589 → 2625	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	2641 → 2674	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	2680 → 2716	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	2718 → 2756	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	2759 → 2799	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	2803 → 2840	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	2843 → 2884	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	2889 → 2925	Low-density lipoprotein receptor domain class A	Repeat
  PF12662	cEGF	2948 → 2971	Complement Clr-like EGF-like	Domain
  PF16472	DUF5050	3007 → 3241	Domain of unknown function (DUF5050)	Domain
  PF14670	FXa_inhibition	3277 → 3313		Domain
  PF00057	Ldl_recept_a	3315 → 3352	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	3355 → 3391	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	3394 → 3431	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	3434 → 3471	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	3474 → 3510	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	3513 → 3549	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	3551 → 3587	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	3592 → 3628	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	3630 → 3667	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	3672 → 3710	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	3760 → 3796	Low-density lipoprotein receptor domain class A	Repeat
  PF07645	EGF_CA	3844 → 3880	Calcium-binding EGF domain	Domain
  PF00058	Ldl_recept_b	4039 → 4080	Low-density lipoprotein receptor repeat class B	Repeat
  PF00008	EGF	4253 → 4283	EGF-like domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in thyroid gland and in salivary gland, as well as in adult and fetal brain. {ECO:0000269|PubMed:11384978}.
• Sequence:

  MSEFLLALLTLSGLLPIARVLTVGADRDQQLCDPGEFLCHDHVTCVSQSWLCDGDPDCPD
  DSDESLDTCPEEVEIKCPLNHIACLGTNKCVHLSQLCNGVLDCPDGYDEGVHCQELLSNC
  QQLNCQYKCTMVRNSTRCYCEDGFEITEDGRSCKDQDECAVYGTCSQTCRNTHGSYTCSC
  VEGYLMQPDNRSCKAKIEPTDRPPILLIANFETIEVFYLNGSKMATLSSVNGNEIHTLDF
  IYNEDMICWIESRESSNQLKCIQITKAGGLTDEWTINILQSFHNVQQMAIDWLTRNLYFV
  DHVGDRIFVCNSNGSVCVTLIDLELHNPKAIAVDPIAGKLFFTDYGNVAKVERCDMDGMN
  RTRIIDSKTEQPAALALDLVNKLVYWVDLYLDYVGVVDYQGKNRHTVIQGRQVRHLYGIT
  VFEDYLYATNSDNYNIVRINRFNGTDIHSLIKIENAWGIRIYQKRTQPTVRSHACEVDPY
  GMPGGCSHICLLSSSYKTRTCRCRTGFNLGSDGRSCKRPKNELFLFYGKGRPGIVRGMDL
  NTKIADEYMIPIENLVNPRALDFHAETNYIYFADTTSFLIGRQKIDGTERETILKDDLDN
  VEGIAVDWIGNNLYWTNDGHRKTINVARLEKASQSRKTLLEGEMSHPRGIVVDPVNGWMY
  WTDWEEDEIDDSVGRIEKAWMDGFNRQIFVTSKMLWPNGLTLDFHTNTLYWCDAYYDHIE
  KVFLNGTHRKIVYSGRELNHPFGLSHHGNYVFWTDYMNGSIFQLDLITSEVTLLRHERPP
  LFGLQIYDPRKQQGDNMCRVNNGGCSTLCLAIPGGRVCACADNQLLDENGTTCTFNPGEA
  LPHICKAGEFRCKNRHCIQARWKCDGDDDCLDGSDEDSVNCFNHSCPDDQFKCQNNRCIP
  KRWLCDGANDCGSNEDESNQTCTARTCQVDQFSCGNGRCIPRAWLCDREDDCGDQTDEMA
  SCEFPTCEPLTQFVCKSGRCISSKWHCDSDDDCGDGSDEVGCVHSCFDNQFRCSSGRCIP
  GHWACDGDNDCGDFSDEAQINCTKEEIHSPAGCNGNEFQCHPDGNCVPDLWRCDGEKDCE
  DGSDEKGCNGTIRLCDHKTKFSCWSTGRCINKAWVCDGDIDCEDQSDEDDCDSFLCGPPK
  HPCANDTSVCLQPEKLCNGKKDCPDGSDEGYLCDECSLNNGGCSNHCSVVPGRGIVCSCP
  EGLQLNKDNKTCEIVDYCSNHLKCSQVCEQHKHTVKCSCYEGWKLDVDGESCTSVDPFEA
  FIIFSIRHEIRRIDLHKRDYSLLVPGLRNTIALDFHFNQSLLYWTDVVEDRIYRGKLSES
  GGVSAIEVVVEHGLATPEGLTVDWIAGNIYWIDSNLDQIEVAKLDGSLRTTLIAGAMEHP
  RAIALDPRYGILFWTDWDANFPRIESASMSGAGRKTIYKDMKTGAWPNGLTVDHFEKRIV
  WTDARSDAIYSALYDGTNMIEIIRGHEYLSHPFAVSLYGSEVYWTDWRTNTLSKANKWTG
  QNVSVIQKTSAQPFDLQIYHPSRQPQAPNPCAANDGKGPCSHMCLINHNRSAACACPHLM
  KLSSDKKTCYEMKKFLLYARRSEIRGVDIDNPYFNFITAFTVPDIDDVTVIDFDASEERL
  YWTDIKTQTIKRAFINGTGLETVISRDIQSIRGLAVDWVSRNLYWISSEFDETQINVARL
  DGSLKTSIIHGIDKPQCLAAHPVRGKLYWTDGNTINMANMDGSNSKILFQNQKEPVGLSI
  DYVENKLYWISSGNGTINRCNLDGGNLEVIESMKEELTKATALTIMDKKLWWADQNLAQL
  GTCSKRDGRNPTILRNKTSGVVHMKVYDKEAQQGSNSCQLNNGGCSQLCLPTSETTRTCM
  CTVGYYLQKNRMSCQGIESFLMYSVHEGIRGIPLEPSDKMDALMPISGTSFAVGIDFHAE
  NDTIYWTDMGFNKISRAKRDQTWKEDIITNGLGRVEGIAVDWIAGNIYWTDHGFNLIEVA
  RLNGSFRYVIISQGLDQPRSIAVHPEKGLLFWTEWGQMPCIGKARLDGSEKVVLVSMGIA
  WPNGISIDYEENKLYWCDARTDKIERIDLETGGNREMVLSGSNVDMFSVAVFGAYIYWSD
  RAHANGSVRRGHKNDATETITMRTGLGVNLKEVKIFNRVREKGTNVCARDNGGCKQLCLY
  RGNSRRTCACAHGYLAEDGVTCLRHEGYLLYSGRTILKSIHLSDETNLNSPIRPYENPRY
  FKNVIALAFDYNQRRKGTNRIFYSDAHFGNIQLIKDNWEDRQVIVENVGSVEGLAYHRAW
  DTLYWTSSTTSSITRHTVDQTRPGAFDREAVITMSEDDHPHVLALDECQNLMFWTNWNEQ
  HPSIMRSTLTGKNAQVVVSTDILTPNGLTIDYRAEKLYFSDGSLGKIERCEYDGSQRHVI
  VKSGPGTFLSLAVYDNYIFWSDWGRRAILRSNKYTGGDTKILRSDIPHQPMGIIAVANDT
  NSCELSPCALLNGGCHDLCLLTPNGRVNCSCRGDRILLEDNRCVTKNSSCNAYSEFECGN
  GECIDYQLTCDGIPHCKDKSDEKLLYCENRSCRRGFKPCYNRRCIPHGKLCDGENDCGDN
  SDELDCKVSTCATVEFRCADGTCIPRSARCNQNIDCADASDEKNCNNTDCTHFYKLGVKT
  TGFIRCNSTSLCVLPTWICDGSNDCGDYSDELKCPVQNKHKCEENYFSCPSGRCILNTWI
  CDGQKDCEDGRDEFHCDSSCSWNQFACSAQKCISKHWICDGEDDCGDGLDESDSICGAIT
  CAADMFSCQGSRACVPRHWLCDGERDCPDGSDELSTAGCAPNNTCDENAFMCHNKVCIPK
  QFVCDHDDDCGDGSDESPQCGYRQCGTEEFSCADGRCLLNTQWQCDGDFDCPDHSDEAPL
  NPKCKSAEQSCNSSFFMCKNGRCIPSGGLCDNKDDCGDGSDERNCHINECLSKKVSGCSQ
  DCQDLPVSYKCKCWPGFQLKDDGKTCVDIDECSSGFPCSQQCINTYGTYKCLCTDGYEIQ
  PDNPNGCKSLSDEEPFLILADHHEIRKISTDGSNYTLLKQGLNNVIAIDFDYREEFIYWI
  DSSRPNGSRINRMCLNGSDIKVVHNTAVPNALAVDWIGKNLYWSDTEKRIIEVSKLNGLY
  PTILVSKRLKFPRDLSLDPQAGYLYWIDCCEYPHIGRVGMDGTNQSVVIETKISRPMALT
  IDYVNRRLYWADENHIEFSNMDGSHRHKVPNQDIPGVIALTLFEDYIYWTDGKTKSLSRA
  HKTSGADRLSLIYSWHAITDIQVYHSYRQPDVSKHLCMINNGGCSHLCLLAPGKTHTCAC
  PTNFYLAADNRTCLSNCTASQFRCKTDKCIPFWWKCDTVDDCGDGSDEPDDCPEFRCQPG
  RFQCGTGLCALPAFICDGENDCGDNSDELNCDTHVCLSGQFKCTKNQKCIPVNLRCNGQD
  DCGDEEDERDCPENSCSPDYFQCKTTKHCISKLWVCDEDPDCADASDEANCDKKTCGPHE
  FQCKNNNCIPDHWRCDSQNDCSDNSDEENCKPQTCTLKDFLCANGDCVSSRFWCDGDFDC
  ADGSDERNCETSCSKDQFRCSNGQCIPAKWKCDGHEDCKYGEDEKSCEPASPTCSSREYI
  CASDGCISASLKCNGEYDCADGSDEMDCVTECKEDQFRCKNKAHCIPIRWLCDGIHDCVD
  GSDEENCERGGNICRADEFLCNNSLCKLHFWVCDGEDDCGDNSDEAPDMCVKFLCPSTRP
  HRCRNNRICLQSEQMCNGIDECGDNSDEDHCGGKLTYKARPCKKDEFACSNKKCIPMDLQ
  CDRLDDCGDGSDEQGCRIAPTEYTCEDNVNPCGDDAYCNQIKTSVFCRCKPGFQRNMKNR
  QCEDLNECLVFGTCSHQCINVEGSYKCVCDQNFQERNNTCIAEGSEDQVLYIANDTDILG
  FIYPFNYSGDHQQISHIEHNSRITGMDVYYQRDMIIWSTQFNPGGIFYKRIHGREKRQAN
  SGLICPEFKRPRDIAVDWVAGNIYWTDHSRMHWFSYYTTHWTSLRYSINVGQLNGPNCTR
  LLTNMAGEPYAIAVNPKRGMMYWTVVGDHSHIEEAAMDGTLRRILVQKNLQRPTGLAVDY
  FSERIYWADFELSIIGSVLYDGSNSVVSVSSKQGLLHPHRIDIFEDYIYGAGPKNGVFRV
  QKFGHGSVEYLALNIDKTKGVLISHRYKQLDLPNPCLDLACEFLCLLNPSGATCVCPEGK
  YLINGTCNDDSLLDDSCKLTCENGGRCILNEKGDLRCHCWPSYSGERCEVNHCSNYCQNG
  GTCVPSVLGRPTCSCALGFTGPNCGKTVCEDFCQNGGTCIVTAGNQPYCHCQPEYTGDRC
  QYYVCHHYCVNSESCTIGDDGSVECVCPTRYEGPKCEVDKCVRCHGGHCIINKDSEDIFC
  NCTNGKIASSCQLCDGYCYNGGTCQLDPETNVPVCLCSTNWSGTQCERPAPKSSKSDHIS
  TRSIAIIVPLVLLVTLITTLVIGLVLCKRKRRTKTIRRQPIINGGINVEIGNPSYNMYEV
  DHDHNDGGLLDPGFMIDPTKARYIGGGPSAFKLPHTAPPIYLNSDLKGPLTAGPTNYSNP
  VYAKLYMDGQNCRNSLGSVDERKELLPKKIEIGIRETVA

• Sequence length: 4599

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Congenital heart defects	Congenital Heart Defects	rs267607101, rs121434422, rs387906498, rs397509416, rs587777371, rs587777372, rs587777374, rs367537998, rs797044882, rs886041730, rs768027510, rs1064793873, rs1555447012, rs1554263268, rs1554263321, rs1555223294, rs782051102, rs1555896779, rs1555896778, rs1555897088, rs374016704, rs1555446983, rs1479104927, rs1562443558, rs755445139, rs1581616817, rs1581655293, rs1899172049	28468790
Diabetes mellitus	Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs80356663, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs371977235, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	29221444
Melanoma	melanoma	rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340, rs398123152, rs587780668, rs587782083, rs587782206, rs587782792, rs180177042, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs786204195, rs121913321, rs45476696, rs864622636, rs864622263, rs869025340, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs886041162, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1057520039, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050	22197931
Papillary renal carcinoma	Papillary Renal Cell Carcinoma	rs5030823, rs2137087134, rs121913668, rs121913669, rs121913670, rs121913671, rs121913673, rs121913243, rs786202724	22138691
Prostate cancer	Malignant neoplasm of prostate, Prostate carcinoma	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	29662167, 31095341
Renal carcinoma	Renal Cell Carcinoma, Conventional (Clear Cell) Renal Cell Carcinoma, Sarcomatoid Renal Cell Carcinoma, Collecting Duct Carcinoma of the Kidney	rs121913668, rs121913670, rs121913243, rs786202724	22138691
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	31374203
Uveal melanoma	Uveal melanoma	rs1559588632	31626034

Unknown
Disease term	Disease name	Evidence	References	Source
Asthma	Childhood asthma, Asthma		29551627	ClinVar, GWAS
Chromophobe carcinoma	Chromophobe Renal Cell Carcinoma		22138691	ClinVar
Uveal Melanoma	Uveal Melanoma	Furthermore, knocking-down GPS2 promoted the proliferation and metastatic abilities of UM cells both in vivo and in vitro.		GWAS, CBGDA
Keratoconus	Keratoconus			GWAS
Motion Sickness	Motion Sickness			GWAS
Glaucoma	Glaucoma			GWAS
Metabolic Syndrome	Metabolic Syndrome			GWAS
Glioblastoma	Glioblastoma	CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587		GWAS, CBGDA
Cataract	Cataract			GWAS
Takayasu Arteritis	Takayasu Arteritis			GWAS
Insomnia	Insomnia			GWAS
Renal Carcinoma	Renal Carcinoma			GWAS
Hypertension	Hypertension			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Associate	30121391, 30720096, 33500480, 34152098
Adenocarcinoma of Lung	Associate	18948947, 28522810, 35069585, 38166691
Adrenocortical Carcinoma	Associate	25078331, 34410225
Alzheimer Disease	Associate	26621834, 36951251
Anodontia	Associate	31270961
Biliary Tract Neoplasms	Associate	33754015
Breast Neoplasms	Associate	33653800
Carcinogenesis	Associate	16918994, 35069585
Carcinoma	Associate	37115272
Carcinoma Basal Cell	Associate	33928395
Carcinoma Hepatocellular	Associate	34386813, 35150083, 35389768, 35651292, 35777027, 36153509
Carcinoma Intraductal Noninfiltrating	Associate	26718977
Carcinoma Merkel Cell	Associate	36736454
Carcinoma Non Small Cell Lung	Inhibit	11031110
Carcinoma Non Small Cell Lung	Associate	33629637, 34603481, 36282125, 37525904
Carcinoma Pancreatic Ductal	Associate	33255265, 34313325
Carcinoma Renal Cell	Inhibit	23521319
Carcinosarcoma	Associate	32209061
Cardiovascular Diseases	Associate	23420841
Colorectal Neoplasms	Associate	29575536, 33836681, 36520636, 37394872, 37992266
Diabetes Mellitus Type 1	Associate	22069270
Endometrial Neoplasms	Associate	39686583
Esophageal Neoplasms	Associate	28548104
Esophageal Squamous Cell Carcinoma	Inhibit	16918994
Glioblastoma	Associate	19435819, 34875133, 37511044
Glioma	Associate	16247447, 37511044
Hemihyperplasia Isolated	Associate	12004004
Keratoconus	Associate	33729517
Kidney Neoplasms	Associate	23521319
Laryngeal Neoplasms	Associate	35911687
Leukemia Lymphoma Adult T Cell	Associate	33562071
Leukemia Myeloid Acute	Associate	32011516, 38019014
Lung Diseases	Associate	33653800
Lung Neoplasms	Associate	28522810, 33200540
Lymphatic Metastasis	Associate	34152098, 39686583
Lymphoma	Associate	37657032
Lymphoma Follicular	Associate	30802265
Lymphoma Mantle Cell	Associate	37605345
Lymphoma Non Hodgkin	Associate	37742945
Lymphoma Primary Cutaneous Anaplastic Large Cell	Associate	34382383
Melanoma	Associate	33653800
Microsatellite Instability	Associate	31270961, 33653800
Multiple Myeloma	Associate	29895955
Neoplasm Metastasis	Associate	33255265, 37394872, 39673828
Neoplasms	Inhibit	11031110, 12004004, 17227771, 18948947, 20073072, 34689147, 36823311, 37742945
Neoplasms	Associate	23521319, 28548104, 29575536, 30703342, 30720096, 31312661, 32209061, 33432021, 33629637, 33653800, 33754015, 33810183, 33933102, 33994859, 34382383, 34410225, 34545149, 34603481, 34720757, 34875133, 34980012, 35389768, 35777027, 35860812, 35911687, 35918329, 36163440, 36282125, 36520636, 36606427, 36634615, 37511044, 37974218, 38381429, 39238637
Neoplastic Cells Circulating	Associate	29565466
Obesity	Associate	30755693
Ovarian Neoplasms	Associate	33432021, 34689147, 36721777, 37525498, 37742945
Pancreatic Neoplasms	Associate	25945796
Pdgfrb Associated Chronic Eosinophilic Leukemia	Associate	32011516
Pre Eclampsia	Associate	23420841
Prostatic Neoplasms	Associate	30877185, 31270961, 33115829, 33214693
Prostatitis	Associate	33653800
Pulmonary Disease Chronic Obstructive	Stimulate	28522810
Pulmonary Disease Chronic Obstructive	Associate	35860812
Red Cell Aplasia Pure	Associate	29767669
Rhabdomyosarcoma Embryonal	Associate	39379998
Sarcoma	Associate	33653800
Sarcopenia	Associate	36573383
Small Cell Lung Carcinoma	Associate	31199602, 35596192
Squamous Cell Carcinoma of Head and Neck	Associate	16918994, 33994859, 37340028, 37373553
Stomach Neoplasms	Associate	31312661, 32034058, 33511732, 33827485, 33900127, 33933102, 34551773, 34603481, 36823311
Stomach Neoplasms	Inhibit	36606427
Thyroid Neoplasms	Associate	36916542, 40184130
Urethral Neoplasms	Associate	12004004
Urinary Bladder Neoplasms	Associate	35841413
Uterine Cervical Neoplasms	Associate	17504382, 33994859, 36333792