Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	4038
Gene name	LDL receptor related protein 4
Gene symbol	LRP4
Synonyms (NCBI Gene)	CLSSCMS17LRP-4LRP10MEGF7SOST2
Chromosome	11
Chromosome location	11p11.2
Summary	This gene encodes a member of the low-density lipoprotein receptor-related protein family. The encoded protein may be a regulator of Wnt signaling. Mutations in this gene are associated with Cenani-Lenz syndrome. [provided by RefSeq, May 2010]

21 Show/Hide all (21)

SNP ID	Visualize variation	Clinical significance	Consequence
rs61742871	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs138589242	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, synonymous variant
rs144974139	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, synonymous variant, upstream transcript variant
rs147353838	G>A,C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant
rs148557097	C>A,T	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant
rs150681693	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs151234321	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs267607220	C>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs267607221	C>T	Pathogenic	Coding sequence variant, upstream transcript variant, missense variant, genic upstream transcript variant
rs267607222	C>T	Pathogenic	Coding sequence variant, upstream transcript variant, missense variant, genic upstream transcript variant
rs267607223	T>C,G	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs267607224	C>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs372210790	A>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs387906883	C>A,G,T	Uncertain-significance, pathogenic, likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs387906884	G>A	Pathogenic	Missense variant, coding sequence variant
rs746136135	C>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs762425885	C>T	Pathogenic	Splice donor variant, upstream transcript variant, genic upstream transcript variant
rs780336679	C>T	Pathogenic	Splice donor variant, upstream transcript variant, genic upstream transcript variant
rs786205153	C>T	Pathogenic	Missense variant, coding sequence variant
rs1565785959	C>A	Pathogenic	Coding sequence variant, stop gained
rs1565801326	C>T	Pathogenic	Intron variant, genic upstream transcript variant

152 Show/Hide all (152)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004194	hsa-miR-197-3p	Microarray	16822819
MIRT019394	hsa-miR-148b-3p	Microarray	17612493
MIRT029485	hsa-miR-26b-5p	Microarray	19088304
MIRT004194	hsa-miR-197-3p	CLASH	23622248
MIRT1118060	hsa-miR-106a	CLIP-seq
MIRT1118061	hsa-miR-106b	CLIP-seq
MIRT1118062	hsa-miR-1253	CLIP-seq
MIRT1118063	hsa-miR-1275	CLIP-seq
MIRT1118064	hsa-miR-1343	CLIP-seq
MIRT1118065	hsa-miR-148a	CLIP-seq
MIRT1118066	hsa-miR-148b	CLIP-seq
MIRT1118067	hsa-miR-152	CLIP-seq
MIRT1118068	hsa-miR-17	CLIP-seq
MIRT1118069	hsa-miR-197	CLIP-seq
MIRT1118070	hsa-miR-20a	CLIP-seq
MIRT1118071	hsa-miR-20b	CLIP-seq
MIRT1118072	hsa-miR-302a	CLIP-seq
MIRT1118073	hsa-miR-302b	CLIP-seq
MIRT1118074	hsa-miR-302c	CLIP-seq
MIRT1118075	hsa-miR-302d	CLIP-seq
MIRT1118076	hsa-miR-302e	CLIP-seq
MIRT1118077	hsa-miR-3121-3p	CLIP-seq
MIRT1118078	hsa-miR-3125	CLIP-seq
MIRT1118079	hsa-miR-3175	CLIP-seq
MIRT1118080	hsa-miR-3671	CLIP-seq
MIRT1118081	hsa-miR-372	CLIP-seq
MIRT1118082	hsa-miR-373	CLIP-seq
MIRT1118083	hsa-miR-3916	CLIP-seq
MIRT1118084	hsa-miR-3928	CLIP-seq
MIRT1118085	hsa-miR-4434	CLIP-seq
MIRT1118086	hsa-miR-4516	CLIP-seq
MIRT1118087	hsa-miR-4521	CLIP-seq
MIRT1118088	hsa-miR-4525	CLIP-seq
MIRT1118089	hsa-miR-4665-5p	CLIP-seq
MIRT1118090	hsa-miR-4723-5p	CLIP-seq
MIRT1118091	hsa-miR-4797-5p	CLIP-seq
MIRT1118092	hsa-miR-499-3p	CLIP-seq
MIRT1118093	hsa-miR-499a-3p	CLIP-seq
MIRT1118094	hsa-miR-519d	CLIP-seq
MIRT1118095	hsa-miR-520a-3p	CLIP-seq
MIRT1118096	hsa-miR-520b	CLIP-seq
MIRT1118097	hsa-miR-520c-3p	CLIP-seq
MIRT1118098	hsa-miR-520d-3p	CLIP-seq
MIRT1118099	hsa-miR-520e	CLIP-seq
MIRT1118100	hsa-miR-520g	CLIP-seq
MIRT1118101	hsa-miR-520h	CLIP-seq
MIRT1118102	hsa-miR-625	CLIP-seq
MIRT1118103	hsa-miR-627	CLIP-seq
MIRT1118104	hsa-miR-637	CLIP-seq
MIRT1118105	hsa-miR-711	CLIP-seq
MIRT1118106	hsa-miR-924	CLIP-seq
MIRT1118107	hsa-miR-93	CLIP-seq
MIRT2033383	hsa-miR-3140-3p	CLIP-seq
MIRT1118091	hsa-miR-4797-5p	CLIP-seq
MIRT2263798	hsa-miR-1207-3p	CLIP-seq
MIRT2263799	hsa-miR-3157-5p	CLIP-seq
MIRT2263800	hsa-miR-4290	CLIP-seq
MIRT2263801	hsa-miR-4687-5p	CLIP-seq
MIRT2263802	hsa-miR-4690-3p	CLIP-seq
MIRT2263803	hsa-miR-532-3p	CLIP-seq
MIRT1118062	hsa-miR-1253	CLIP-seq
MIRT1118063	hsa-miR-1275	CLIP-seq
MIRT1118064	hsa-miR-1343	CLIP-seq
MIRT1118079	hsa-miR-3175	CLIP-seq
MIRT1118085	hsa-miR-4434	CLIP-seq
MIRT1118086	hsa-miR-4516	CLIP-seq
MIRT1118088	hsa-miR-4525	CLIP-seq
MIRT1118089	hsa-miR-4665-5p	CLIP-seq
MIRT1118090	hsa-miR-4723-5p	CLIP-seq
MIRT1118102	hsa-miR-625	CLIP-seq
MIRT1118104	hsa-miR-637	CLIP-seq
MIRT1118062	hsa-miR-1253	CLIP-seq
MIRT1118063	hsa-miR-1275	CLIP-seq
MIRT1118064	hsa-miR-1343	CLIP-seq
MIRT1118079	hsa-miR-3175	CLIP-seq
MIRT1118085	hsa-miR-4434	CLIP-seq
MIRT1118086	hsa-miR-4516	CLIP-seq
MIRT1118088	hsa-miR-4525	CLIP-seq
MIRT1118089	hsa-miR-4665-5p	CLIP-seq
MIRT1118090	hsa-miR-4723-5p	CLIP-seq
MIRT1118102	hsa-miR-625	CLIP-seq
MIRT1118104	hsa-miR-637	CLIP-seq
MIRT2563046	hsa-miR-1251	CLIP-seq
MIRT1118062	hsa-miR-1253	CLIP-seq
MIRT1118063	hsa-miR-1275	CLIP-seq
MIRT1118064	hsa-miR-1343	CLIP-seq
MIRT2563047	hsa-miR-186	CLIP-seq
MIRT2563048	hsa-miR-2110	CLIP-seq
MIRT2563049	hsa-miR-2355-3p	CLIP-seq
MIRT2563050	hsa-miR-2861	CLIP-seq
MIRT2563051	hsa-miR-3153	CLIP-seq
MIRT1118079	hsa-miR-3175	CLIP-seq
MIRT2563052	hsa-miR-3655	CLIP-seq
MIRT2563053	hsa-miR-3675-3p	CLIP-seq
MIRT2563054	hsa-miR-4252	CLIP-seq
MIRT2563055	hsa-miR-4269	CLIP-seq
MIRT2563056	hsa-miR-4271	CLIP-seq
MIRT2563057	hsa-miR-4274	CLIP-seq
MIRT1118085	hsa-miR-4434	CLIP-seq
MIRT2563058	hsa-miR-4512	CLIP-seq
MIRT1118086	hsa-miR-4516	CLIP-seq
MIRT2563059	hsa-miR-4519	CLIP-seq
MIRT1118088	hsa-miR-4525	CLIP-seq
MIRT1118089	hsa-miR-4665-5p	CLIP-seq
MIRT2563060	hsa-miR-4667-5p	CLIP-seq
MIRT2563061	hsa-miR-4690-5p	CLIP-seq
MIRT2563062	hsa-miR-4700-5p	CLIP-seq
MIRT2563063	hsa-miR-4708-3p	CLIP-seq
MIRT1118090	hsa-miR-4723-5p	CLIP-seq
MIRT2563064	hsa-miR-4725-3p	CLIP-seq
MIRT2563065	hsa-miR-4735-5p	CLIP-seq
MIRT2563066	hsa-miR-4774-5p	CLIP-seq
MIRT2563067	hsa-miR-5096	CLIP-seq
MIRT2563068	hsa-miR-576-5p	CLIP-seq
MIRT1118102	hsa-miR-625	CLIP-seq
MIRT1118104	hsa-miR-637	CLIP-seq
MIRT2563069	hsa-miR-676	CLIP-seq
MIRT2563046	hsa-miR-1251	CLIP-seq
MIRT1118062	hsa-miR-1253	CLIP-seq
MIRT1118063	hsa-miR-1275	CLIP-seq
MIRT1118064	hsa-miR-1343	CLIP-seq
MIRT2563047	hsa-miR-186	CLIP-seq
MIRT2684161	hsa-miR-193a-5p	CLIP-seq
MIRT2563050	hsa-miR-2861	CLIP-seq
MIRT1118079	hsa-miR-3175	CLIP-seq
MIRT2684162	hsa-miR-346	CLIP-seq
MIRT2563053	hsa-miR-3675-3p	CLIP-seq
MIRT2563054	hsa-miR-4252	CLIP-seq
MIRT2684163	hsa-miR-4266	CLIP-seq
MIRT2563055	hsa-miR-4269	CLIP-seq
MIRT2563057	hsa-miR-4274	CLIP-seq
MIRT1118085	hsa-miR-4434	CLIP-seq
MIRT2563058	hsa-miR-4512	CLIP-seq
MIRT1118086	hsa-miR-4516	CLIP-seq
MIRT2563059	hsa-miR-4519	CLIP-seq
MIRT1118088	hsa-miR-4525	CLIP-seq
MIRT2684164	hsa-miR-4527	CLIP-seq
MIRT2684165	hsa-miR-4659a-5p	CLIP-seq
MIRT2684166	hsa-miR-4659b-5p	CLIP-seq
MIRT1118089	hsa-miR-4665-5p	CLIP-seq
MIRT2563061	hsa-miR-4690-5p	CLIP-seq
MIRT2684167	hsa-miR-4695-5p	CLIP-seq
MIRT2563063	hsa-miR-4708-3p	CLIP-seq
MIRT1118090	hsa-miR-4723-5p	CLIP-seq
MIRT2684168	hsa-miR-4727-5p	CLIP-seq
MIRT2563065	hsa-miR-4735-5p	CLIP-seq
MIRT2684169	hsa-miR-4769-3p	CLIP-seq
MIRT2563066	hsa-miR-4774-5p	CLIP-seq
MIRT2684170	hsa-miR-4779	CLIP-seq
MIRT2563068	hsa-miR-576-5p	CLIP-seq
MIRT1118102	hsa-miR-625	CLIP-seq
MIRT1118104	hsa-miR-637	CLIP-seq

73 Show/Hide all (73)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001822	Process	Kidney development	IDA	20381006
GO:0001822	Process	Kidney development	IEA
GO:0001942	Process	Hair follicle development	IEA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	21471202, 28514442, 33961781
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0006897	Process	Endocytosis	IEA
GO:0007167	Process	Enzyme-linked receptor protein signaling pathway	IEA
GO:0008104	Process	Intracellular protein localization	IEA
GO:0009953	Process	Dorsal/ventral pattern formation	IEA
GO:0009954	Process	Proximal/distal pattern formation	IEA
GO:0009986	Component	Cell surface	IDA	20381006
GO:0009986	Component	Cell surface	IEA
GO:0009986	Component	Cell surface	ISS
GO:0014069	Component	Postsynaptic density	IEA
GO:0014069	Component	Postsynaptic density	ISS
GO:0015026	Function	Coreceptor activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030279	Process	Negative regulation of ossification	IMP	21471202
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	ISS
GO:0030971	Function	Receptor tyrosine kinase binding	IEA
GO:0030971	Function	Receptor tyrosine kinase binding	ISS
GO:0031594	Component	Neuromuscular junction	IEA
GO:0031594	Component	Neuromuscular junction	ISS
GO:0034185	Function	Apolipoprotein binding	IEA
GO:0035022	Process	Positive regulation of Rac protein signal transduction	IEA
GO:0042475	Process	Odontogenesis of dentin-containing tooth	IEA
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043025	Component	Neuronal cell body	ISS
GO:0043113	Process	Receptor clustering	IEA
GO:0044853	Component	Plasma membrane raft	IEA
GO:0044853	Component	Plasma membrane raft	ISS
GO:0045202	Component	Synapse	IEA
GO:0048699	Process	Generation of neurons	IBA
GO:0048731	Process	System development	IEA
GO:0048813	Process	Dendrite morphogenesis	IEA
GO:0048813	Process	Dendrite morphogenesis	ISS
GO:0050771	Process	Negative regulation of axonogenesis	IEA
GO:0050771	Process	Negative regulation of axonogenesis	ISS
GO:0050808	Process	Synapse organization	IBA
GO:0050808	Process	Synapse organization	IEA
GO:0050808	Process	Synapse organization	ISS
GO:0051124	Process	Synaptic assembly at neuromuscular junction	IEA
GO:0051124	Process	Synaptic assembly at neuromuscular junction	ISS
GO:0060173	Process	Limb development	IDA	20381006
GO:0071340	Process	Skeletal muscle acetylcholine-gated channel clustering	IEA
GO:0071340	Process	Skeletal muscle acetylcholine-gated channel clustering	ISS
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IBA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IDA	20093106
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IEA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IMP	20381006, 21471202
GO:0097060	Component	Synaptic membrane	IEA
GO:0097060	Component	Synaptic membrane	ISS
GO:0097104	Process	Postsynaptic membrane assembly	IEA
GO:0097104	Process	Postsynaptic membrane assembly	ISS
GO:0097105	Process	Presynaptic membrane assembly	IEA
GO:0097105	Process	Presynaptic membrane assembly	ISS
GO:0097110	Function	Scaffold protein binding	IEA
GO:0097110	Function	Scaffold protein binding	ISS
GO:0150052	Process	Regulation of postsynapse assembly	IEA
GO:0150094	Process	Amyloid-beta clearance by cellular catabolic process	IMP	18289866
GO:1901631	Process	Positive regulation of presynaptic membrane organization	IEA
GO:1901631	Process	Positive regulation of presynaptic membrane organization	ISS
GO:1904395	Process	Positive regulation of skeletal muscle acetylcholine-gated channel clustering	IEA

MIM	HGNC	e!Ensembl
604270	6696	ENSG00000134569

O75096

Protein name

Low-density lipoprotein receptor-related protein 4 (LRP-4) (Multiple epidermal growth factor-like domains 7)

Protein function

Mediates SOST-dependent inhibition of bone formation. Functions as a specific facilitator of SOST-mediated inhibition of Wnt signaling. Plays a key role in the formation and the maintenance of the neuromuscular junction (NMJ), the synapse betwee

PDB

8S9P

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00057	Ldl_recept_a	69 → 105	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	268 → 304	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	146 → 182	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	229 → 265	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	189 → 225	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	108 → 143	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	310 → 349	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	25 → 66	Low-density lipoprotein receptor domain class A	Repeat
PF00058	Ldl_recept_b	1179 → 1220	Low-density lipoprotein receptor repeat class B	Repeat
PF00058	Ldl_recept_b	1483 → 1524	Low-density lipoprotein receptor repeat class B	Repeat
PF00058	Ldl_recept_b	523 → 563	Low-density lipoprotein receptor repeat class B	Repeat
PF00058	Ldl_recept_b	871 → 912	Low-density lipoprotein receptor repeat class B	Repeat
PF00058	Ldl_recept_b	610 → 650	Low-density lipoprotein receptor repeat class B	Repeat
PF00058	Ldl_recept_b	566 → 607	Low-density lipoprotein receptor repeat class B	Repeat
PF00058	Ldl_recept_b	828 → 866	Low-density lipoprotein receptor repeat class B	Repeat
PF00058	Ldl_recept_b	1136 → 1176	Low-density lipoprotein receptor repeat class B	Repeat
PF00058	Ldl_recept_b	1440 → 1480	Low-density lipoprotein receptor repeat class B	Repeat
PF00058	Ldl_recept_b	785 → 825	Low-density lipoprotein receptor repeat class B	Repeat
PF00058	Ldl_recept_b	915 → 954	Low-density lipoprotein receptor repeat class B	Repeat
PF00058	Ldl_recept_b	1093 → 1133	Low-density lipoprotein receptor repeat class B	Repeat
PF00058	Ldl_recept_b	480 → 520	Low-density lipoprotein receptor repeat class B	Repeat
PF00058	Ldl_recept_b	1527 → 1563	Low-density lipoprotein receptor repeat class B	Repeat
PF00058	Ldl_recept_b	1397 → 1437	Low-density lipoprotein receptor repeat class B	Repeat
PF00058	Ldl_recept_b	956 → 996	Low-density lipoprotein receptor repeat class B	Repeat
PF12662	cEGF	376 → 398	Complement Clr-like EGF-like	Domain
PF14670	FXa_inhibition	1313 → 1348		Domain
PF14670	FXa_inhibition	1006 → 1043		Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in bone; present in osteoblasts and osteocytes. No expression is observed in osteoclast. Expressed in several regions of the brain. {ECO:0000269|PubMed:21471202}.

Sequence

MRRQWGALLLGALLCAHGLASSPECACGRSHFTCAVSALGECTCIPAQWQCDGDNDCGDH
SDEDGCILPTCSPLDFHCDNGKCIRRSWVCDGDNDCEDDSDEQDCPPRECEEDEFPCQNG
YCIRSLWHCDGDNDCGDNSDEQCDMRKCSDKEFRCSDGSCIAEHWYCDGDTDCKDGSDEE
NCPSAVPAPPCNLEEFQCAYGRCILDIYHCDGDDDCGDWSDESDCSSHQPCRSGEFMCDS
GLCINAGWRCDGDADCDDQSDERNCTTSMCTAEQFRCHSGRCVRLSWRCDGEDDCADNSD
EENCENTGSPQCALDQFLCWNGRCIGQRKLCNGVNDCGDNSDESPQQNCRPRTGEENCNV
NNGGCAQKCQMVRGAVQCTCHTGYRLTEDGHTCQDVNECAEEGYCSQGCTNSEGAFQCWC
ETGYELRPDRRSCKALGPEPVLLFANRIDIRQVLPHRSEYTLLLNNLENAIALDFHHRRE
LVFWSDVTLDRILRANLNGSNVEEVVSTGLESPGGLAVDWVHDKLYWTDSGTSRIEVANL
DGAHRKVLLWQNLEKPRAIALHPMEGTIYWTDWGNTPRIEASSMDGSGRRIIADTHLFWP
NGLTIDYAGRRMYWVDAKHHVIERANLDGSHRKAVISQGLPHPFAITVFEDSLYWTDWHT
KSINSANKFTGKNQEIIRNKLHFPMDIHTLHPQRQPAGKNRCGDNNGGCTHLCLPSGQNY
TCACPTGFRKISSHACAQSLDKFLLFARRMDIRRISFDTEDLSDDVIPLADVRSAVALDW
DSRDDHVYWTDVSTDTISRAKWDGTGQEVVVDTSLESPAGLAIDWVTNKLYWTDAGTDRI
EVANTDGSMRTVLIWENLDRPRDIVVEPMGGYMYWTDWGASPKIERAGMDASGRQVIISS
NLTWPNGLAIDYGSQRLYWADAGMKTIEFAGLDGSKRKVLIGSQLPHPFGLTLYGERIYW
TDWQTKSIQSADRLTGLDRETLQENLENLMDIHVFHRRRPPVSTPCAMENGGCSHLCLRS
PNPSGFSCTCPTGINLLSDGKTCSPGMNSFLIFARRIDIRMVSLDIPYFADVVVPINITM
KNTIAIGVDPQEGKVYWSDSTLHRISRANLDGSQHEDIITTGLQTTDGLAVDAIGRKVYW
TDTGTNRIEVGNLDGSMRKVLVWQNLDSPRAIVLYHEMGFMYWTDWGENAKLERSGMDGS
DRAVLINNNLGWPNGLTVDKASSQLLWADAHTERIEAADLNGANRHTLVSPVQHPYGLTL
LDSYIYWTDWQTRSIHRADKGTGSNVILVRSNLPGLMDMQAVDRAQPLGFNKCGSRNGGC
SHLCLPRPSGFSCACPTGIQLKGDGKTCDPSPETYLLFSSRGSIRRISLDTSDHTDVHVP
VPELNNVISLDYDSVDGKVYYTDVFLDVIRRADLNGSNMETVIGRGLKTTDGLAVDWVAR
NLYWTDTGRNTIEASRLDGSCRKVLINNSLDEPRAIAVFPRKGYLFWTDWGHIAKIERAN
LDGSERKVLINTDLGWPNGLTLDYDTRRIYWVDAHLDRIESADLNGKLRQVLVSHVSHPF
ALTQQDRWIYWTDWQTKSIQRVDKYSGRNKETVLANVEGLMDIIVVSPQRQTGTNACGVN
NGGCTHLCFARASDFVCACPDEPDSRPCSLVPGLVPPAPRATGMSEKSPVLPNTPPTTLY
SSTTRTRTSLEEVEGRCSERDARLGLCARSNDAVPAAPGEGLHISYAIGGLLSILLILVV
IAALMLYRHKKSKFTDPGMGNLTYSNPSYRTSTQEVKIEAIPKPAMYNQLCYKKEGGPDH
NYTKEKIKIVEGICLLSGDDAEWDDLKQLRSSRGGLLRDHVCMKTDTVSIQASSGSLDDT
ETEQLLQEEQSECSSVHTAATPERRGSLPDTGWKHERKLSSESQV

Sequence length

1905

Interactions

View interactions

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)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar Show/Hide Causal Diseases (7)
Abnormality of the musculature	Likely pathogenic; Pathogenic	rs1940998166	RCV001814451	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cenani-Lenz syndactyly syndrome	Likely pathogenic; Pathogenic	rs1479002757, rs1941502709, rs1218582533, rs1565790767, rs267607220, rs267607222, rs2134775125, rs762425885, rs267607221, rs267607224, rs267607223, rs1565801326, rs2539749999, rs2539729986, rs2539741932 View all (9 more)	RCV001535881 RCV001536119 RCV002541153 RCV001882347 RCV000006040 View all (19 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital myasthenic syndrome 17	Likely pathogenic; Pathogenic	rs1479002757, rs1941502709, rs1218582533, rs1565790767, rs267607222, rs762425885, rs2539749999, rs2539729986, rs1223476227, rs2539759435, rs2539746175, rs2539723743, rs1941543653, rs758169152, rs780336679, rs1565785959 View all (1 more)	RCV001535881 RCV001536119 RCV002541153 RCV001882347 RCV002496277 View all (11 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Isolated hand syndactyly	Likely pathogenic	rs1940862694, rs1940965143	RCV001034555 RCV001034554	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LRP4-related disorder	Likely pathogenic	rs747752349	RCV004536930	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Other rare neuromuscular disorders	Pathogenic	rs780336679	RCV005865323	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sclerosteosis 2	Likely pathogenic; Pathogenic	rs1479002757, rs1941502709, rs1218582533, rs1565790767, rs267607222, rs762425885, rs2539749999, rs2539729986, rs1223476227, rs2539759435, rs2539746175, rs2539723743, rs1941543653, rs758169152, rs387906884, rs780336679, rs1565785959 View all (2 more)	RCV001535881 RCV001536119 RCV002541153 RCV001882347 RCV002496277 View all (12 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (34)
Bone Mineral Density Variation	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENANI-LENZ SYNDROME	—	Orphanet	20381006, 23636941	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma susceptibility 1	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	31578528	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAFFUCCI SYNDROME	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	30643256	★★★★★ ★★☆☆☆ 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	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meniere disease	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MIGRAINE DISORDER	—	GWAS catalog	34294844	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 17	—	Disgenet, HPO Disgenet, HPO	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROMES, CONGENITAL	—	CTD, Disgenet CTD, Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	29942085, 30643256	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POSTSYNAPTIC CONGEN MYASTHENIC SYNDROMES	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POSTSYNAPTIC CONGENITAL MYASTHENIC SYNDROME	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	24234652, 24234652	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	26198764	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSTEOSIS	—	CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet	21471202, 21471202	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYNDACTYLY	—	CTD, Disgenet CTD, Disgenet	16207730	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYNDACTYLY CENANI LENZ TYPE	—	CTD, Disgenet CTD, Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOOTH ABNORMALITIES	—	CTD	16207730	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	31420334, 35285134	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
CHRNE	3	["Congenital myasthenic syndrome","Myasthenic syndrome","Postsynaptic congenital myasthenic syndrome"]	[]	8	["ClinVar (Congenital myasthenic syndrome)","GenCC (Congenital myasthenic syndrome)","HPO (Myasthenic syndrome)","Disgenet (Myasthenic syndrome)","CTD (Myasthenic syndrome)","Disgenet (Postsynaptic congenital myasthenic syndrome)","GWAS catalog (Postsynaptic congenital myasthenic syndrome)","Orphanet (Postsynaptic congenital myasthenic syndrome)"]
CHRNB1	3	["Congenital myasthenic syndrome","Myasthenic syndrome","Postsynaptic congenital myasthenic syndrome"]	[]	9	["ClinVar (Congenital myasthenic syndrome)","GenCC (Congenital myasthenic syndrome)","ClinGen (Congenital myasthenic syndrome)","HPO (Myasthenic syndrome)","Disgenet (Myasthenic syndrome)","CTD (Myasthenic syndrome)","Disgenet (Postsynaptic congenital myasthenic syndrome)","GWAS catalog (Postsynaptic congenital myasthenic syndrome)","Orphanet (Postsynaptic congenital myasthenic syndrome)"]
COL13A1	3	["Congenital myasthenic syndrome","Myasthenic syndrome","Postsynaptic congenital myasthenic syndrome"]	[]	8	["ClinVar (Congenital myasthenic syndrome)","GenCC (Congenital myasthenic syndrome)","HPO (Myasthenic syndrome)","Disgenet (Myasthenic syndrome)","CTD (Myasthenic syndrome)","Disgenet (Postsynaptic congenital myasthenic syndrome)","GWAS catalog (Postsynaptic congenital myasthenic syndrome)","Orphanet (Postsynaptic congenital myasthenic syndrome)"]
AGRN	3	["Congenital myasthenic syndrome","Myasthenic syndrome","Postsynaptic congenital myasthenic syndrome"]	[]	8	["ClinVar (Congenital myasthenic syndrome)","ClinGen (Congenital myasthenic syndrome)","HPO (Myasthenic syndrome)","Disgenet (Myasthenic syndrome)","CTD (Myasthenic syndrome)","Disgenet (Postsynaptic congenital myasthenic syndrome)","GWAS catalog (Postsynaptic congenital myasthenic syndrome)","Orphanet (Postsynaptic congenital myasthenic syndrome)"]
CHRND	3	["Congenital myasthenic syndrome","Myasthenic syndrome","Postsynaptic congenital myasthenic syndrome"]	[]	8	["ClinVar (Congenital myasthenic syndrome)","GenCC (Congenital myasthenic syndrome)","HPO (Myasthenic syndrome)","Disgenet (Myasthenic syndrome)","CTD (Myasthenic syndrome)","Disgenet (Postsynaptic congenital myasthenic syndrome)","GWAS catalog (Postsynaptic congenital myasthenic syndrome)","Orphanet (Postsynaptic congenital myasthenic syndrome)"]

LRP4 (LDL receptor related protein 4)

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