Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7436
Gene name Gene Name - the full gene name approved by the HGNC.
Very low density lipoprotein receptor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
VLDLR
Synonyms (NCBI Gene) Gene synonyms aliases
CAMRQ1, CARMQ1, CHRMQ1, VLDL-R, VLDLRCH
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CAMRQ1
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9p24.2
Summary Summary of gene provided in NCBI Entrez Gene.
The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. This gene encodes a lipoprotein receptor that is a member of the LDLR family and plays important roles
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs80338905 C>A,T Pathogenic Coding sequence variant, non coding transcript variant, synonymous variant, stop gained
rs80338906 T>- Pathogenic Coding sequence variant, non coding transcript variant, frameshift variant
rs80338907 C>A,T Pathogenic Coding sequence variant, non coding transcript variant, synonymous variant, stop gained
rs116306908 A>G Conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, non coding transcript variant, missense variant
rs139671268 G>A Conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, non coding transcript variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT018291 hsa-miR-335-5p Microarray 18185580
MIRT020261 hsa-miR-130b-3p Sequencing 20371350
MIRT028137 hsa-miR-93-5p Sequencing 20371350
MIRT054784 hsa-miR-135a-5p Luciferase reporter assay, qRT-PCR, Western blot 24903309
MIRT713315 hsa-miR-100-3p HITS-CLIP 19536157
Transcription factors
Transcription factor Regulation Reference
CEBPA Unknown 10064725
HIC1 Repression 24076391
PPARG Activation 19861583
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005041 Function Low-density lipoprotein particle receptor activity TAS 10380922
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 8083232, 10571240, 10571241, 17330141, 17548821, 20223215
GO:0005765 Component Lysosomal membrane TAS
GO:0005886 Component Plasma membrane TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
192977 12698 ENSG00000147852
Protein
UniProt ID P98155
Protein name Very low-density lipoprotein receptor (VLDL receptor) (VLDL-R)
Protein function Multifunctional cell surface receptor that binds VLDL and transports it into cells by endocytosis and therefore plays an important role in energy metabolism. Also binds to a wide range of other molecules including Reelin/RELN or apolipoprotein E
PDB 1V9U , 3DPR , 6BYV , 8IHP , 8UA4 , 8UA8 , 8UFB , 8UFC , 8X0K , 8X0L , 8X0M , 8XI4 , 8XI5 , 8YS2 , 8YS4 , 8YVZ , 8YW0 , 8YW1 , 8YW2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00057 Ldl_recept_a 31 67 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 70 108 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 111 149 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 152 188 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 191 229 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 237 273 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 276 312 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 316 355 Low-density lipoprotein receptor domain class A Repeat
PF14670 FXa_inhibition 360 394 Domain
PF07645 EGF_CA 396 434 Calcium-binding EGF domain Domain
PF00058 Ldl_recept_b 481 522 Low-density lipoprotein receptor repeat class B Repeat
PF00058 Ldl_recept_b 525 565 Low-density lipoprotein receptor repeat class B Repeat
PF00058 Ldl_recept_b 568 609 Low-density lipoprotein receptor repeat class B Repeat
PF00058 Ldl_recept_b 612 654 Low-density lipoprotein receptor repeat class B Repeat
PF00058 Ldl_recept_b 655 695 Low-density lipoprotein receptor repeat class B Repeat
PF14670 FXa_inhibition 706 749 Domain
Tissue specificity TISSUE SPECIFICITY: Abundant in heart and skeletal muscle; also ovary and kidney; not in liver.
Sequence
MGTSALWALWLLLALCWAPRESGATGTGRKAKCEPSQFQCTNGRCITLLWKCDGDEDCVD
GSDEKNC
VKKTCAESDFVCNNGQCVPSRWKCDGDPDCEDGSDESPEQCHMRTCRIHEISC
GAHSTQCIPVSWRCDGENDCDSGEDEENC
GNITCSPDEFTCSSGRCISRNFVCNGQDDCS
DGSDELDC
APPTCGAHEFQCSTSSCIPISWVCDDDADCSDQSDESLEQCGRQPVIHTKCP
ASEIQCGSGECIHKKWRCDGDPDCKDGSDEVNC
PSRTCRPDQFECEDGSCIHGSRQCNGI
RDCVDGSDEVNC
KNVNQCLGPGKFKCRSGECIDISKVCNQEQDCRDWSDEPLKECHINEC
LVNNGGCSHICKDLVIGYECDCAAGFELIDRKTC
GDIDECQNPGICSQICINLKGGYKCE
CSRGYQMDLATGVC
KAVGKEPSLIFTNRRDIRKIGLERKEYIQLVEQLRNTVALDADIAA
QKLFWADLSQKAIFSASIDDKVGRHVKMIDNVYNPAAIAVDWVYKTIYWTDAASKTISVA
TLDGTKRKFLFNSDLREPASIAVDP
LSGFVYWSDWGEPAKIEKAGMNGFDRRPLVTADIQ
WPNGITLDL
IKSRLYWLDSKLHMLSSVDLNGQDRRIVLKSLEFLAHPLALTIFEDRVYWI
DGENEAVYGANKFTGSELATLVNNLNDAQDIIVYH
ELVQPSGKNWCEEDMENGGCEYLCL
PAPQINDHSPKYTCSCPSGYNVEENGRDC
QSTATTVTYSETKDTNTTEISATSGLVPGGI
NVTTAVSEVSVPPKGTSAAWAILPLLLLVMAAVGGYLMWRNWQHKNMKSMNFDNPVYLKT
TEEDLSIDIGRHSASVGHTYPAISVVSTDDDLA
Sequence length 873
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Spinocerebellar ataxia
Lipid and atherosclerosis
  Reelin signalling pathway
VLDLR internalisation and degradation
VLDL clearance
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Autism Autistic Disorder rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
15820235
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 rs80338907, rs80338906, rs267606695, rs80338905, rs387906598, rs587776906, rs546968533, rs398122380, rs397514750, rs267603791, rs730882206, rs770279237, rs797046092, rs770269674, rs138358708
View all (11 more)
18326629, 18364738, 16080122
Cerebral palsy Cerebral Palsy rs121918149, rs75184679, rs730880264, rs587777428, rs797045067, rs767399782, rs564185858, rs886039513
Unknown
Disease term Disease name Evidence References Source
Breast cancer Breast cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Psoriasis Psoriasis GWAS
Oligodendroglioma Oligodendroglioma GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 15884130, 21047397
Ataxia Associate 19332571
Atherosclerosis Associate 29042132, 8669483
Autistic Disorder Associate 36039581
Breast Neoplasms Associate 17696882
Carcinoma Renal Cell Stimulate 23185271
Carotid Artery Diseases Associate 18056683
Central Nervous System Infections Associate 37876925
Cerebellar Ataxia Associate 22532556
Cerebellar Hypoplasia Associate 16080122, 18326629, 19332571, 22532556