Detailed information for LRP5
Basic information
| Official symbol | LRP5 |
|---|---|
| Official full name | low density lipoprotein receptor-related protein 5 |
| Location | 11q13.4 |
| Gene type | protein-coding |
| Synonyms | BMND1|EVR1|EVR4|HBM|LR3|LRP7|OPPG|OPS|OPTA1|VBCH2 |
| Quick links | Entrez ID:4041; HGNC:6697; MIM:603506; Ensembl:ENSG00000162337; HPRD:04616; Vega:OTTHUMG00000167570 |
GO related
| GO term accession | GO term name | Number of reference genes | Number of genes | Expected number | Ratio of enrichment | P-value | Adjusted P-Value |
|---|---|---|---|---|---|---|---|
| GO:0003008 | system process | 1695 | 108 | 21.09 | 5.12 | 1.12e-54 | 2.63e-52 |
| GO:0060041 | retina development in camera-type eye | 105 | 31 | 1.31 | 23.73 | 1.13e-34 | 1.90e-32 |
| GO:0007423 | sensory organ development | 436 | 48 | 5.42 | 8.85 | 3.27e-32 | 3.84e-30 |
| GO:0001654 | eye development | 276 | 39 | 3.43 | 11.36 | 3.01e-30 | 2.94e-28 |
| GO:0044707 | single-multicellular organism process | 5612 | 143 | 69.81 | 2.05 | 9.21e-29 | 7.72e-27 |
| GO:0032501 | multicellular organismal process | 5644 | 143 | 70.21 | 2.04 | 1.83e-28 | 1.43e-26 |
| GO:0043010 | camera-type eye development | 237 | 33 | 2.95 | 11.19 | 2.13e-25 | 1.25e-23 |
| GO:0048592 | eye morphogenesis | 126 | 24 | 1.57 | 15.31 | 5.38e-22 | 2.53e-20 |
| GO:0044699 | single-organism process | 7682 | 152 | 95.57 | 1.59 | 9.26e-19 | 3.88e-17 |
| GO:0048646 | anatomical structure formation involved in morphogenesis | 1594 | 62 | 19.83 | 3.13 | 4.32e-17 | 1.64e-15 |
| GO:0009653 | anatomical structure morphogenesis | 2055 | 70 | 25.56 | 2.74 | 1.99e-16 | 7.08e-15 |
| GO:0060042 | retina morphogenesis in camera-type eye | 37 | 13 | 0.46 | 28.24 | 3.05e-16 | 1.02e-14 |
| GO:0048856 | anatomical structure development | 4030 | 102 | 50.13 | 2.03 | 4.19e-16 | 1.33e-14 |
| GO:0048593 | camera-type eye morphogenesis | 90 | 15 | 1.12 | 13.40 | 3.00e-13 | 9.03e-12 |
| GO:0032502 | developmental process | 4572 | 104 | 56.88 | 1.83 | 3.53e-13 | 1.04e-11 |
| GO:0005488 | binding | 11955 | 150 | 132.97 | 1.13 | 0.0005 | 0.0090 |
| GO:0005515 | protein binding | 7337 | 102 | 81.61 | 1.25 | 0.0011 | 0.0149 |
| GO:0042813 | Wnt-activated receptor activity | 21 | 3 | 0.23 | 12.84 | 0.0016 | 0.0170 |
Pathway related
| Term | Surce | Number of reference genes | Number of genes | Expected number | Ratio of enrichment | P-value | Adjusted P-value |
|---|---|---|---|---|---|---|---|
| Wnt | Pathway commons | 82 | 3 | 0.37 | 8.13 | 0.0061 | 0.0273 |
PPI related
| ID | Number of reference genes | Number of genes | Expected number | Ratio of enrichment | P-value | Adjusted P-value |
|---|---|---|---|---|---|---|
| Hsapiens_Module_29 | 33 | 4 | 0.34 | 11.80 | 0.0003 | 0.0022 |
OMIM related
| chromosome | begin | end | disorder MIM number | disorder | phene mapping key | gene/locus MIM number | cytogenetic loaction |
|---|---|---|---|---|---|---|---|
| chr11 | 68079107 | 68217743 | 601813 | Exudative vitreoretinopathy 4 | 3 | 603506 | 11q13.2 |
| chr11 | 68079107 | 68217743 | 144750 | "Hyperostosis, endosteal" | 3 | 603506 | 11q13.2 |
| chr11 | 68079107 | 68217743 | 607634 | "Osteopetrosis, autosomal dominant 1" | 3 | 603506 | 11q13.2 |
| chr11 | 68079107 | 68217743 | 259770 | Osteoporosis-pseudoglioma syndrome | 3 | 603506 | 11q13.2 |
| chr11 | 68079107 | 68217743 | 144750 | Osteosclerosis | 3 | 603506 | 11q13.2 |
| chr11 | 68079107 | 68217743 | 601884 | [Bone mineral density variability 1] | 3 | 603506 | 11q13.2 |
| chr11 | 68079107 | 68217743 | 607636 | "van Buchem disease, type 2" | 3 | 603506 | 11q13.2 |
| chr11 | 68079107 | 68217743 | 166710 | {Osteoporosis} | 3 | 603506 | 11q13.2 |
MGI related
| chromosome | begin | end | gene ID | gene symbol of mouse | MGI | MP | phenotype description |
|---|---|---|---|---|---|---|---|
| chr11 | 68079107 | 68217743 | 4041 | Lrp5 | MGI:1278315 | MP:0001186 | pigmentation phenotype |
| chr11 | 68079107 | 68217743 | 4041 | Lrp5 | MGI:1278315 | MP:0002873 | normal phenotype |
| chr11 | 68079107 | 68217743 | 4041 | Lrp5 | MGI:1278315 | MP:0003631 | nervous system phenotype |
| chr11 | 68079107 | 68217743 | 4041 | Lrp5 | MGI:1278315 | MP:0005370 | liver/biliary system phenotype |
| chr11 | 68079107 | 68217743 | 4041 | Lrp5 | MGI:1278315 | MP:0005371 | limbs/digits/tail phenotype |
| chr11 | 68079107 | 68217743 | 4041 | Lrp5 | MGI:1278315 | MP:0005376 | homeostasis/metabolism phenotype |
| chr11 | 68079107 | 68217743 | 4041 | Lrp5 | MGI:1278315 | MP:0005378 | growth/size phenotype |
| chr11 | 68079107 | 68217743 | 4041 | Lrp5 | MGI:1278315 | MP:0005379 | endocrine/exocrine gland phenotype |
| chr11 | 68079107 | 68217743 | 4041 | Lrp5 | MGI:1278315 | MP:0005380 | embryogenesis phenotype |
| chr11 | 68079107 | 68217743 | 4041 | Lrp5 | MGI:1278315 | MP:0005382 | craniofacial phenotype |
| chr11 | 68079107 | 68217743 | 4041 | Lrp5 | MGI:1278315 | MP:0005384 | cellular phenotype |
| chr11 | 68079107 | 68217743 | 4041 | Lrp5 | MGI:1278315 | MP:0005385 | cardiovascular system phenotype |
| chr11 | 68079107 | 68217743 | 4041 | Lrp5 | MGI:1278315 | MP:0005386 | behavior/neurological phenotype |
| chr11 | 68079107 | 68217743 | 4041 | Lrp5 | MGI:1278315 | MP:0005387 | immune system phenotype |
| chr11 | 68079107 | 68217743 | 4041 | Lrp5 | MGI:1278315 | MP:0005390 | skeleton phenotype |
| chr11 | 68079107 | 68217743 | 4041 | Lrp5 | MGI:1278315 | MP:0005391 | vision/eye phenotype |
| chr11 | 68079107 | 68217743 | 4041 | Lrp5 | MGI:1278315 | MP:0005397 | hematopoietic system phenotype |
| chr11 | 68079107 | 68217743 | 4041 | Lrp5 | MGI:1278315 | MP:0010768 | mortality/aging |
Mutation spectrum
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Gene-disease network
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