COL1A2

GENERAL INFORMATION

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Gene name

COL1A2

Gene description

Collagen, type I, alpha 2

Protein class

Cancer-related genes
Disease related genes
Plasma proteins
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:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

General cytoplasmic expression.

ANTIBODY RELIABILITY

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Data reliability
description

Secreted protein, tissue location of RNA and protein might differ and correlation is complex.

Data reliability

Uncertain based on 1 antibody.
CAB032650
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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:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

COL1A2 (HGNC Symbol)

Synonyms

OI4

Description

Collagen, type I, alpha 2 (HGNC Symbol)

Entrez gene summary

This gene encodes the pro-alpha2 chain of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIB, recessive Ehlers-Danlos syndrome Classical type, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for the alpha1 chain of type I collagen (COL1A1) reflecting the different role of alpha2 chains in matrix integrity. Three transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]

Chromosome

7

Cytoband

q21.3

Chromosome location (bp)

94394561 - 94431232

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000164692 (version 78.38)

Entrez gene

1278

UniProt

P08123 (UniProt - Evidence at protein level)

neXtProt

NX_P08123

Antibodypedia

COL1A2 antibodies


PROTEIN BROWSER

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ENST00000297268
 
ENST00000620463
 
 
 
 


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)

COL1A2-001 ENSP00000297268
ENST00000297268
P08123
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Show » Show » 1366 129.3 Yes 0
COL1A2-201 ENSP00000477719
ENST00000620463
A2TIK1
Show all »
Show » Show » 1364 129.2 Yes 0