Gene Gene information from NCBI Gene database.
Entrez ID 7436
Gene name Very low density lipoprotein receptor
Gene symbol VLDLR
Synonyms (NCBI Gene)
CAMRQ1CARMQ1CHRMQ1VLDL-RVLDLRCH
Chromosome 9
Chromosome location 9p24.2
Summary 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.
14
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.
365
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 assayqRT-PCRWestern blot 24903309
MIRT713315 hsa-miR-100-3p HITS-CLIP 19536157
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Transcription factor Regulation Reference
CEBPA Unknown 10064725
HIC1 Repression 24076391
PPARG Activation 19861583
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
46
GO ID Ontology Definition Evidence Reference
GO:0005041 Function Low-density lipoprotein particle receptor activity IEA
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, 32296183, 33961781
GO:0005615 Component Extracellular space IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
192977 12698 ENSG00000147852
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
276
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormality of the nervous system Pathogenic rs2130810638 RCV001814487
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 Pathogenic; Likely pathogenic rs1428899305, rs2130810631, rs2130785730, rs141396971, rs1404412704, rs761330915, rs797046092, rs770269674, rs1563758564, rs2488718618, rs778298702, rs80338907, rs80338906, rs1817930102, rs2488711363
View all (8 more)
RCV005040332
RCV001784014
RCV001807943
RCV002227004
RCV002283985
RCV002284300
RCV002051689
RCV002051690
RCV003325245
RCV003152927
RCV003155822
RCV000020557
RCV000020556
RCV003325251
RCV003325252
RCV003325253
RCV003325254
RCV005047808
RCV003988145
RCV000020555
RCV000785940
RCV000049269
RCV000054559
Cerebellar hypoplasia Pathogenic rs397514750 RCV004798764
Dysequilibrium syndrome Likely pathogenic rs2130801524 RCV002272962
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely benign rs140938258 RCV005925963
Cervical cancer Likely benign rs12348518 RCV005916429
Cholangiocarcinoma Benign; Likely benign rs11789583 RCV005889388
Congenital cerebellar hypoplasia Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance rs11789583, rs6143, rs148487944, rs6149, rs79720897, rs6148, rs6145, rs34336270, rs2242105, rs2219143, rs35782329, rs35339834, rs145995735, rs141850403, rs182216426
View all (41 more)
RCV000313450
RCV000370518
RCV000298244
RCV000333724
RCV000380151
RCV000285729
RCV000376598
RCV000311900
RCV000261481
RCV000276346
RCV000348298
RCV000270534
RCV000379212
RCV000287225
RCV000397896
RCV000359068
RCV000338938
RCV000308352
RCV000271545
RCV000328821
RCV000389212
RCV000373923
RCV000365308
RCV000340977
RCV000344566
RCV000291026
RCV000263076
RCV000320640
RCV000325553
RCV000337113
RCV000278361
RCV000308615
RCV000363802
RCV000385757
RCV000368967
RCV000283835
RCV000404689
RCV000355556
RCV000312186
RCV000366823
RCV000404429
RCV000278431
RCV000335588
RCV000402819
RCV000304150
RCV000273136
RCV000372010
RCV000319042
RCV000407386
RCV000406430
RCV000363490
RCV000274811
RCV000332222
RCV000281608
RCV000375905
RCV000404867
RCV000321941
RCV000282109
RCV000352066
Associations from Text MiningDisease associations identified through Pubtator
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