Version 2.78

Description

The COL2A1 gene (collagen, type II, alpha 1) [HGNC Gene ID:2200] is located on chromosome 12q13.11. This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:1280] Source: National Center for Biotechnology Information (NCBI) Gene

Reference Information

Type Source Reference
Webcontent Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. Link to OMIM

Basic Part Properties

Part Display Name
COL2A1 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2000-05-04
Construct for LOINC Short Name
COL2A1 gene

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP19687-0
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP19687-0

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) COL2A1 基因
Synonyms: SEDC;Stickler 综合征;原发性骨关节炎;史蒂克勒氏症;脊椎骨骺发育;脊椎骨骺发育不良;软骨胶原基因;软骨胶原蛋白基因;遗传性关节眼病;Ⅱ型胶原蛋白基因;II型胶原蛋白基因;ANFH;AOM;COL11A3;MGC131516;SEDC;AOM;COL11A3;MGC131516;SEDC;OTTHUMP00000195063;cartilage collagen;chondrocalcin;collagen II, alpha-1 polypeptide;collagen, type II,
et-EE Estonian (Estonia) COL2A1 geen
es-ES Spanish (Spain) Gen COL2A1
it-IT Italian (Italy) COL2A1, gene
Synonyms: Gene COL2A1
tr-TR Turkish (Turkey) COL2A1 geni
ru-RU Russian (Russian Federation) COL2A1 ген
nl-NL Dutch (Netherlands) COL2A1-gen
Synonyms: COL2A1 gen