Tissue expression of COL8A2 - Summary - The Human Protein Atlas

GENERAL INFORMATION
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

RNA tissue category

HPA:	Mixed
GTEx:	Mixed
FANTOM5:	Tissue enhanced (retina)

Protein evidence

Evidence at protein level

Protein expression

RNA-based expert annotation gave inconclusive results.

DATA RELIABILITY
Data reliability description	Pending external verification.
Reliability score	Uncertain based on 1 antibody. HPA049788
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RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

Cerebral cortex

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

Thyroid gland

Parathyroid gland

N/A

Adrenal gland

Bone marrow & immune system

Appendix

Bone marrow

Lymph node

Tonsil

Spleen

Muscle tissues

Heart muscle

Skeletal muscle

Smooth muscle

Lung

Nasopharynx

N/A

Bronchus

N/A

Lung

Liver & gallbladder

Liver

Gallbladder

Pancreas

Gastrointestinal tract

Oral mucosa

N/A

Salivary gland

Esophagus

Stomach

Duodenum

Small intestine

Colon

N/A

Rectum

Kidney & urinary bladder

Kidney

Urinary bladder

Male tissues

Testis

Epididymis

Prostate

Seminal vesicle

Female tissues

Breast

Vagina

N/A

Cervix, uterine

Endometrium

Fallopian tube

Ovary

Placenta

Adipose & soft tissue

Adipose tissue

Soft tissue

N/A

Skin

PROTEIN EXPRESSION OVERVIEW
Organ Expression Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Mixed
GTEx dataset Organ Expression Alphabetical RNA tissue category: Mixed
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (retina)

GENE INFORMATION
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 83.38)
Entrez gene	1296
UniProt	P25067 (UniProt - Evidence at protein level)
neXtProt	NX_P25067
Antibodypedia	COL8A2 antibodies

PROTEIN BROWSER

COL8A2-001	COL8A2-002	COL8A2-201	COL8A2-202

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
COL8A2-001 ENSP00000380901 ENST00000397799	P25067 [Direct mapping] Collagen alpha-2(VIII) chain Show all	MEMSAT3 predicted membrane proteins THUMBUP predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Disease related genes Protein evidence (Kim et al 2014) Show all	GO:0001525 [angiogenesis] GO:0005201 [extracellular matrix structural constituent] GO:0005515 [protein binding] GO:0005576 [extracellular region] GO:0005578 [proteinaceous extracellular matrix] GO:0005581 [collagen trimer] GO:0005604 [basement membrane] GO:0005788 [endoplasmic reticulum lumen] GO:0016337 [single organismal cell-cell adhesion] GO:0022617 [extracellular matrix disassembly] GO:0030198 [extracellular matrix organization] GO:0030574 [collagen catabolic process] GO:0030674 [protein binding, bridging] GO:0031012 [extracellular matrix] GO:0048593 [camera-type eye morphogenesis] GO:0050673 [epithelial cell proliferation] Show all	703 aa 67.2 kDa	Yes	0
COL8A2-002 ENSP00000436433 ENST00000481785	E9PP49 [Direct mapping] Collagen alpha-2(VIII) chain; Collagen type VIII alpha 2 Show all	Predicted intracellular proteins Show all	GO:0005515 [protein binding] GO:0005576 [extracellular region] GO:0005581 [collagen trimer] Show all	638 aa 60.7 kDa	No	0
COL8A2-201 ENSP00000305913 ENST00000303143	P25067 [Direct mapping] Collagen alpha-2(VIII) chain Show all	MEMSAT3 predicted membrane proteins THUMBUP predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Disease related genes Show all	GO:0001525 [angiogenesis] GO:0005201 [extracellular matrix structural constituent] GO:0005515 [protein binding] GO:0005576 [extracellular region] GO:0005578 [proteinaceous extracellular matrix] GO:0005581 [collagen trimer] GO:0005604 [basement membrane] GO:0005788 [endoplasmic reticulum lumen] GO:0016337 [single organismal cell-cell adhesion] GO:0022617 [extracellular matrix disassembly] GO:0030198 [extracellular matrix organization] GO:0030574 [collagen catabolic process] GO:0030674 [protein binding, bridging] GO:0031012 [extracellular matrix] Show all	703 aa 67.2 kDa	Yes	0
COL8A2-202 ENSP00000484406 ENST00000615990	Q4VAQ0 [Direct mapping] COL8A2 protein; Collagen alpha-2(VIII) chain Show all	MEMSAT3 predicted membrane proteins THUMBUP predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Show all	GO:0005515 [protein binding] GO:0005576 [extracellular region] GO:0005581 [collagen trimer] Show all	427 aa 42.5 kDa	Yes	0