GenTIGS

Collagen type IX alpha 2 chain (COL9A2) Associated conditions: 1. Stickler 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_001852.4	NP_001843.1	NC_000001.11	(40300488..40317285, complement)	Reference GRCh38.p14 Primary Assembly	-

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 167 reference articles

Variant Information Collagen type IX alpha 2 chain (COL9A2) Mutation Visualization Dashboard: Pathogenic variant distribution chart

ClinVar variants:Revealing mutagenic patterns

GO Term of Collagen type IX alpha 2 chain (COL9A2)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	TAS	involved_in	skeletal system development	Process	10364514
2	Homo sapiens	IPI	enables	protein binding	Function	32296183
3	Homo sapiens	TAS	located_in	extracellular region	Component	-
4	Homo sapiens	IBA	part_of	collagen type IX trimer	Component	-
5	Homo sapiens	IDA	part_of	collagen type IX trimer	Component	8660302
6	Homo sapiens	TAS	part_of	collagen type IX trimer	Component	10364514
7	Homo sapiens	TAS	located_in	endoplasmic reticulum lumen	Component	-
8	Homo sapiens	IBA	enables	extracellular matrix structural constituent conferring tensile strength	Function	-
9	Homo sapiens	IC	enables	extracellular matrix structural constituent conferring tensile strength	Function	8660302
10	Homo sapiens	RCA	enables	extracellular matrix structural constituent conferring tensile strength	Function	25037231
11	Homo sapiens	IBA	involved_in	extracellular matrix organization	Process	-
12	Homo sapiens	HDA	located_in	extracellular matrix	Component	25037231
13	Homo sapiens	IBA	is_active_in	extracellular matrix	Component	-
14	Homo sapiens	IPI	enables	protein homodimerization activity	Function	8660302