COL2A1

GENERAL INFORMATION

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Gene name

COL2A1

Gene description

Collagen, type II, alpha 1

Protein class

Cancer-related genes
Disease related genes
Predicted secreted proteins

Predicted localization

Secreted

Number of transcripts

2
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enhanced (prostate, stomach, testis)
GTEx:Group enriched (stomach, testis)

Protein evidence

Evidence at protein level

Protein localization

Distinct immunoreactivity was observed in collagen fibers. Weak cytoplasmic positivity was found in apical glandular cells of the gastrointestinal tract. Remaining normal tissues were negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
CAB002214
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (prostate, stomach, testis)

Organ

Expression

GTEx dataset
RNA tissue category:  Group enriched (stomach, testis)

Organ

Expression



GENE INFORMATION

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Gene name

COL2A1 (HGNC Symbol)

Synonyms

AOM, SEDC, STL1

Description

Collagen, type II, alpha 1 (HGNC Symbol)

Entrez gene summary

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]

Chromosome

12

Cytoband

q13.11

Chromosome location (bp)

47972965 - 48004486

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000139219 (version 78.38)

Entrez gene

1280

UniProt

P02458 (UniProt - Evidence at protein level)

neXtProt

NX_P02458

Antibodypedia

COL2A1 antibodies


PROTEIN BROWSER

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ENST00000337299
 
ENST00000380518
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

COL2A1-001 ENSP00000369889
ENST00000380518
P02458
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Show » Show » 1487 141.8 Yes 0
COL2A1-008 ENSP00000338213
ENST00000337299
P02458
Show all »
Show » Show » 1418 134.4 Yes 0