Detailed information for COL11A1
Basic information
| Official symbol | COL2A1 |
|---|---|
| Official full name | collagen, type II, alpha 1 |
| Location | 12q13.11 |
| Gene type | protein-coding |
| Synonyms | ANFH|AOM|COL11A3|SEDC |
| Quick links | Entrez ID:1280; HGNC:2200; MIM:120140; Ensembl:ENSG00000139219; HPRD:00361; Vega:OTTHUMG00000149896 |
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:0050953 | sensory perception of light stimulus | 205 | 100 | 2.55 | 39.21 | 8.72e-146 | 1.02e-142 |
| GO:0007601 | visual perception | 204 | 99 | 2.54 | 39.01 | 7.39e-144 | 4.34e-141 |
| GO:0007600 | sensory perception | 495 | 103 | 6.16 | 16.73 | 4.54e-105 | 1.78e-102 |
| GO:0050877 | neurological system process | 1237 | 106 | 15.39 | 6.89 | 1.82e-66 | 5.34e-64 |
| GO:0003008 | system process | 1695 | 108 | 21.09 | 5.12 | 1.12e-54 | 2.63e-52 |
| GO:0007423 | sensory organ development | 436 | 48 | 5.42 | 8.85 | 3.27e-32 | 3.84e-30 |
| 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: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:0030030 | cell projection organization | 934 | 46 | 11.62 | 3.96 | 2.85e-16 | 9.84e-15 |
| GO:0048856 | anatomical structure development | 4030 | 102 | 50.13 | 2.03 | 4.19e-16 | 1.33e-14 |
| GO:0000902 | cell morphogenesis | 945 | 42 | 11.76 | 3.57 | 2.49e-13 | 7.69e-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:0005578 | proteinaceous extracellular matrix | 360 | 14 | 3.93 | 3.57 | 4.22e-05 | 0.0002 |
| GO:0031012 | extracellular matrix | 426 | 15 | 4.65 | 3.23 | 6.94e-05 | 0.0004 |
Pathway related
| Term | Surce | Number of reference genes | Number of genes | Expected number | Ratio of enrichment | P-value | Adjusted P-value |
|---|
PPI related
| ID | Number of reference genes | Number of genes | Expected number | Ratio of enrichment | P-value | Adjusted P-value |
|---|---|---|---|---|---|---|
| Hsapiens_Module_582 | 9 | 2 | 0.09 | 21.64 | 0.0036 | 0.0156 |
| Hsapiens_Module_263 | 18 | 2 | 0.18 | 10.82 | 0.0144 | 0.0440 |
OMIM related
| chromosome | begin | end | disorder MIM number | disorder | phene mapping key | gene/locus MIM number | cytogenetic loaction |
|---|---|---|---|---|---|---|---|
| chr12 | 48365747 | 48399285 | 200610 | "Achondrogenesis, type II or hypochondrogenesis" | 3 | 120140 | 12q13.11 |
| chr12 | 48365747 | 48399285 | 608805 | Avascular necrosis of the femoral head | 3 | 120140 | 12q13.11 |
| chr12 | 48365747 | 48399285 | 609162 | Czech dysplasia | - | 120140 | 12q13.11 |
| chr12 | 48365747 | 48399285 | 132450 | "Epiphyseal dysplasia, multiple, with myopia and deafness" | 3 | 120140 | 12q13.11 |
| chr12 | 48365747 | 48399285 | 156550 | Kniest dysplasia | 3 | 120140 | 12q13.11 |
| chr12 | 48365747 | 48399285 | 150600 | Legg-Calve-Perthes disease | 3 | 120140 | 12q13.11 |
| chr12 | 48365747 | 48399285 | 604864 | Osteoarthritis with mild chondrodysplasia | 3 | 120140 | 12q13.11 |
| chr12 | 48365747 | 48399285 | 215150 | Otospondylomegaepiphyseal dysplasia | 3 | 120140 | 12q13.11 |
| chr12 | 48365747 | 48399285 | 151210 | "Platyspondylic skeletal dysplasia, Torrance type" | 3 | 120140 | 12q13.11 |
| chr12 | 48365747 | 48399285 | 183900 | SED congenita | 3 | 120140 | 12q13.11 |
| chr12 | 48365747 | 48399285 | - | "SED, Namaqualand type" | 3 | 120140 | 12q13.11 |
| chr12 | 48365747 | 48399285 | 184250 | SMED Strudwick type | 3 | 120140 | 12q13.11 |
| chr12 | 48365747 | 48399285 | 271700 | Spondyloperipheral dysplasia | 3 | 120140 | 12q13.11 |
| chr12 | 48365747 | 48399285 | 609508 | "Stickler sydrome, type I, nonsyndromic ocular" | 3 | 120140 | 12q13.11 |
| chr12 | 48365747 | 48399285 | 108300 | "Stickler syndrome, type I" | 3 | 120140 | 12q13.11 |
| chr12 | 48365747 | 48399285 | - | Vitreoretinopathy with phalangeal epiphyseal dysplasia | 3 | 120140 | 12q13.11 |
MGI related
| chromosome | begin | end | gene ID | gene symbol of mouse | MGI | MP | phenotype description |
|---|---|---|---|---|---|---|---|
| chr12 | 48365747 | 48399285 | 1280 | Col2a1 | MGI:88452 | MP:0002873 | normal phenotype |
| chr12 | 48365747 | 48399285 | 1280 | Col2a1 | MGI:88452 | MP:0003631 | nervous system phenotype |
| chr12 | 48365747 | 48399285 | 1280 | Col2a1 | MGI:88452 | MP:0005367 | renal/urinary system phenotype |
| chr12 | 48365747 | 48399285 | 1280 | Col2a1 | MGI:88452 | MP:0005370 | liver/biliary system phenotype |
| chr12 | 48365747 | 48399285 | 1280 | Col2a1 | MGI:88452 | MP:0005371 | limbs/digits/tail phenotype |
| chr12 | 48365747 | 48399285 | 1280 | Col2a1 | MGI:88452 | MP:0005375 | adipose tissue phenotype |
| chr12 | 48365747 | 48399285 | 1280 | Col2a1 | MGI:88452 | MP:0005377 | hearing/vestibular/ear phenotype |
| chr12 | 48365747 | 48399285 | 1280 | Col2a1 | MGI:88452 | MP:0005378 | growth/size phenotype |
| chr12 | 48365747 | 48399285 | 1280 | Col2a1 | MGI:88452 | MP:0005380 | embryogenesis phenotype |
| chr12 | 48365747 | 48399285 | 1280 | Col2a1 | MGI:88452 | MP:0005381 | digestive/alimentary phenotype |
| chr12 | 48365747 | 48399285 | 1280 | Col2a1 | MGI:88452 | MP:0005382 | craniofacial phenotype |
| chr12 | 48365747 | 48399285 | 1280 | Col2a1 | MGI:88452 | MP:0005385 | cardiovascular system phenotype |
| chr12 | 48365747 | 48399285 | 1280 | Col2a1 | MGI:88452 | MP:0005386 | behavior/neurological phenotype |
| chr12 | 48365747 | 48399285 | 1280 | Col2a1 | MGI:88452 | MP:0005387 | immune system phenotype |
| chr12 | 48365747 | 48399285 | 1280 | Col2a1 | MGI:88452 | MP:0005388 | respiratory system phenotype |
| chr12 | 48365747 | 48399285 | 1280 | Col2a1 | MGI:88452 | MP:0005390 | skeleton phenotype |
| chr12 | 48365747 | 48399285 | 1280 | Col2a1 | MGI:88452 | MP:0005391 | vision/eye phenotype |
| chr12 | 48365747 | 48399285 | 1280 | Col2a1 | MGI:88452 | MP:0010768 | mortality/aging |
Mutation spectrum
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Gene-disease network
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