COL8A2

GENERAL INFORMATION

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Gene name

COL8A2

Gene description

Collagen, type VIII, alpha 2

Protein class

Disease related genes
Predicted intracellular proteins
Predicted secreted proteins

Predicted localization

Intracellular,Secreted

Number of transcripts

4
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Mixed
GTEx:Mixed

Protein evidence

Evidence at protein level

Protein localization

Small intestine, stomach, Leydig cells, exocrine pancreas, hepatocytes and squamous epithelia of tonsil displayed weak to moderate cytoplasmic staining. A subset of lymphoid cells scattered throughout most tissues showed strong staining. 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.
HPA049788
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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
Nasopharynx
N/A
N/A
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Rectum

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Mixed

Organ

Expression

GTEx dataset
RNA tissue category:  Mixed

Organ

Expression



GENE INFORMATION

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Gene name

COL8A2 (HGNC Symbol)

Synonyms

FECD, FECD1, PPCD, PPCD2

Description

Collagen, type VIII, alpha 2 (HGNC Symbol)

Entrez gene summary

This gene encodes the alpha 2 chain of type VIII collagen. This protein is a major component of the basement membrane of the corneal endothelium and forms homo- or heterotrimers with alpha 1 (VIII) type collagens. Defects in this gene are associated with Fuchs endothelial corneal dystrophy and posterior polymorphous corneal dystrophy type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

Chromosome

1

Cytoband

p34.3

Chromosome location (bp)

36095236 - 36125220

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000171812 (version 78.38)

Entrez gene

1296

UniProt

P25067 (UniProt - Evidence at protein level)

neXtProt

NX_P25067

Antibodypedia

COL8A2 antibodies


PROTEIN BROWSER

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ENST00000303143
 
ENST00000397799
 
ENST00000481785
 
ENST00000615990
 
 
 
 


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)

COL8A2-001 ENSP00000305913
ENST00000303143
P25067
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Show » Show » 703 67.2 Yes 0
COL8A2-002 ENSP00000436433
ENST00000481785
E9PP49
Show all »
Show » Show » 638 60.7 No 0
COL8A2-003 ENSP00000380901
ENST00000397799
P25067
Show all »
Show » Show » 703 67.2 Yes 0
COL8A2-201 ENSP00000484406
ENST00000615990
Q4VAQ0
Show all »
Show » Show » 427 42.5 Yes 0