GenTIGS

Collagen type II alpha 1 chain (COL2A1) Associated conditions: 1. Stickler syndrome 2. Stargardt disease 3. Maffucci syndrome 4. Achondrogenesis 5. Otospondylomegaepiphyseal dysplasia 6. Spondylometaphyseal dysplasia - Sutcliffe type 7. KBG syndrome

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_001844.5	NP_001835.3	NC_000012.12	(47972966..48006211, complement)	Reference GRCh38.p14 Primary Assembly	P02458
2	REVIEWED	NM_033150.3	NP_149162.2	NC_000012.12	(47972966..48006211, complement)	Reference GRCh38.p14 Primary Assembly	P02458

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 1381 reference articles

Variant Information Collagen type II alpha 1 chain (COL2A1) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Collagen type II alpha 1 chain (COL2A1)

ClinVar variants:Revealing mutagenic patterns

GO Term of Collagen type II alpha 1 chain (COL2A1)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IMP	involved_in	skeletal system development	Process	1429602
2	Homo sapiens	IEA	involved_in	ossification	Process	-
3	Homo sapiens	IMP	involved_in	chondrocyte differentiation	Process	7829510
4	Homo sapiens	IDA	enables	extracellular matrix structural constituent	Function	7829510
5	Homo sapiens	IEA	enables	extracellular matrix structural constituent	Function	-
6	Homo sapiens	IPI	enables	protein binding	Function	32296183 32814053
7	Homo sapiens	HDA	located_in	extracellular region	Component	27068509
8	Homo sapiens	TAS	located_in	extracellular region	Component	-
9	Homo sapiens	IEA	part_of	collagen trimer	Component	-
10	Homo sapiens	IEA	part_of	fibrillar collagen trimer	Component	-
11	Homo sapiens	IBA	part_of	collagen type II trimer	Component	-
12	Homo sapiens	IDA	part_of	collagen type II trimer	Component	8660302 24113490
13	Homo sapiens	IEA	part_of	collagen type II trimer	Component	-
14	Homo sapiens	IDA	part_of	collagen type XI trimer	Component	7642541
15	Homo sapiens	IEA	located_in	basement membrane	Component	-
16	Homo sapiens	IEA	located_in	extracellular space	Component	-
17	Homo sapiens	IMP	located_in	extracellular space	Component	20603131
18	Homo sapiens	IEA	located_in	cytoplasm	Component	-
19	Homo sapiens	IEA	located_in	endoplasmic reticulum lumen	Component	-
20	Homo sapiens	TAS	located_in	endoplasmic reticulum lumen	Component	-
21	Homo sapiens	IEA	involved_in	central nervous system development	Process	-
22	Homo sapiens	IMP	involved_in	visual perception	Process	10486316 16752401
23	Homo sapiens	IMP	involved_in	sensory perception of sound	Process	16752401
24	Homo sapiens	HDA	enables	extracellular matrix structural constituent conferring tensile strength	Function	28344315
25	Homo sapiens	IBA	enables	extracellular matrix structural constituent conferring tensile strength	Function	-
26	Homo sapiens	IC	enables	extracellular matrix structural constituent conferring tensile strength	Function	8660302
27	Homo sapiens	RCA	enables	extracellular matrix structural constituent conferring tensile strength	Function	27559042 28327460 28675934
28	Homo sapiens	IBA	involved_in	collagen fibril organization	Process	-
29	Homo sapiens	IDA	involved_in	collagen fibril organization	Process	30464261
30	Homo sapiens	IEA	involved_in	collagen fibril organization	Process	-
31	Homo sapiens	IMP	involved_in	collagen fibril organization	Process	1429602
32	Homo sapiens	IEA	involved_in	notochord development	Process	-
33	Homo sapiens	HDA	located_in	extracellular matrix	Component	23658023 27559042 28327460 28344315 28675934
34	Homo sapiens	IBA	is_active_in	extracellular matrix	Component	-
35	Homo sapiens	IDA	is_active_in	extracellular matrix	Component	7829510
36	Homo sapiens	IEA	located_in	extracellular matrix	Component	-
37	Homo sapiens	NAS	located_in	extracellular matrix	Component	17876790
38	Homo sapiens	IPI	enables	MHC class II protein binding	Function	9354468
39	Homo sapiens	IEA	enables	identical protein binding	Function	-
40	Homo sapiens	IPI	enables	protein homodimerization activity	Function	8660302
41	Homo sapiens	IDA	enables	proteoglycan binding	Function	29030641
42	Homo sapiens	IEA	enables	metal ion binding	Function	-
43	Homo sapiens	IDA	enables	platelet-derived growth factor binding	Function	8900172
44	Homo sapiens	IEA	involved_in	animal organ development	Process	-
45	Homo sapiens	IBA	involved_in	skeletal system morphogenesis	Process	-
46	Homo sapiens	IEA	involved_in	system development	Process	-
47	Homo sapiens	TAS	involved_in	cartilage development	Process	7550321
48	Homo sapiens	IEA	involved_in	limb bud formation	Process	-
49	Homo sapiens	IMP	involved_in	embryonic skeletal joint morphogenesis	Process	16752401
50	Homo sapiens	IEA	involved_in	otic vesicle development	Process	-