full name
collagen type II alpha 1 chain

synonyms
ANFH, AOM, COL11A3, SEDC, COL2A1, ENSG00000139219

HGNC
HGNC:2200

Entrez Gene
Gene:1280

ENSEMBL
ENSG00000139219

location
chr: 12
start: 48366748
stop: 48398285
strand: -

OMIM
OMIM:120140: COL2A1 (Autosomal dominant inheritance)
OMIM:200610: Achondrogenesis, type II or hypochondrogenesis
OMIM:608805: Avascular necrosis of the femoral head
OMIM:609162: Czech dysplasia
OMIM:132450: Epiphyseal dysplasia, multiple, with myopia and deafness
OMIM:156550: Kniest dysplasia
OMIM:150600: Legg-Calve-Perthes disease
OMIM:604864: Osteoarthritis with mild chondrodysplasia
OMIM:151210: Platyspondylic skeletal dysplasia, Torrance type
OMIM:183900: SED congenita
OMIM:184250: SMED Strudwick type
OMIM:616583: Spondyloepiphyseal dysplasia, Stanescu type
OMIM:271700: Spondyloperipheral dysplasia
OMIM:609508: Stickler sydrome, type I, nonsyndromic ocular
OMIM:108300: Stickler syndrome, type I

transcripts
NM_033150.2
NM_001844.4

pathways
Assembly of collagen fibrils and other multimeric structures [NCBI:1270247] [REACTOME:R-HSA-2022090] [PUBMED:8645190] [PUBMED:21182410]
Collagen biosynthesis and modifying enzymes [NCBI:1270246] [REACTOME:R-HSA-1650814] [PUBMED:14698617] [PUBMED:17550969]
Collagen chain trimerization [NCBI:1470926] [REACTOME:R-HSA-8948216] [PUBMED:710450] [PUBMED:171650]
Collagen formation [NCBI:1270245] [REACTOME:R-HSA-1474290] [PUBMED:7574488] [PUBMED:19693541]
ECM-receptor interaction [NCBI:83068] [KEGG:hsa04512] [PUBMED:7698997] [PUBMED:15381249] [PUBMED:12796473] [PUBMED:11331578] [PUBMED:15036264] [PUBMED:12125070] [PUBMED:12736199] [PUBMED:15229478] [PUBMED:11572082] [PUBMED:10617638] [PUBMED:12845610] [PUBMED:12921709]
Extracellular matrix organization [NCBI:1270244] [REACTOME:R-HSA-1474244] [PUBMED:21123617] [PUBMED:21917992] [PUBMED:12845610]
Focal adhesion [NCBI:83067] [KEGG:hsa04510] [PUBMED:10698680] [PUBMED:15459662] [PUBMED:14756624] [PUBMED:11573199] [PUBMED:12640026] [PUBMED:15179030] [PUBMED:15108811] [PUBMED:15053919] [PUBMED:11082269] [PUBMED:15034601] [PUBMED:12235283] [PUBMED:14519391] [PUBMED:11146675] [PUBMED:11229600] [PUBMED:15688067] [PUBMED:14744429] [PUBMED:11882383]
PI3K-Akt signaling pathway [NCBI:692234] [KEGG:hsa04151] [PUBMED:12048182] [PUBMED:11357143] [PUBMED:21440011] [PUBMED:15209374] [PUBMED:12669022] [PUBMED:18842113] [PUBMED:16847462] [PUBMED:12660731] [PUBMED:17360849] [PUBMED:9838078] [PUBMED:15505410] [PUBMED:16248975] [PUBMED:12531180] [PUBMED:21779440] [PUBMED:16187290] [PUBMED:15784165] [PUBMED:21620960]
Protein digestion and absorption [NCBI:172847] [KEGG:hsa04974] [PUBMED:15772300] [PUBMED:18195088] [PUBMED:9687539] [PUBMED:18400692] [PUBMED:12583961] [PUBMED:18626068] [PUBMED:20522896] [PUBMED:14977407] [PUBMED:7937532] [PUBMED:11546643] [PUBMED:20093818] [PUBMED:16887608] [PUBMED:12237156]