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COL9A3

GENERAL INFORMATION

Gene name

 COL9A3

Gene description

 Collagen, type IX, alpha 3

Protein class

 Disease related genes
Predicted intracellular proteins
Predicted secreted proteins

Predicted localization

 Intracellular,Secreted

Number of transcripts

 2
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Group enriched (cerebral cortex, salivary gland, testis, thyroid gland)
GTEx:Mixed
FANTOM5:Tissue enhanced (retina)

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in most tissues

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly not consistent with RNA expression data. Secreted protein, tissue location of RNA and protein might differ and correlation is complex.

Reliability score

 Uncertain based on 1 antibody.
HPA040125
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (cerebral cortex, salivary gland, testis, thyroid gland)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (retina)

GENE INFORMATION

Gene name

 COL9A3 (HGNC Symbol)

Synonyms

 DJ885L7.4.1, EDM3, FLJ90759, IDD, MED

Description

 Collagen, type IX, alpha 3 (HGNC Symbol)

Entrez gene summary

 This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. Mutations in this gene are associated with multiple epiphyseal dysplasia type 3. [provided by RefSeq, Jan 2010]

Chromosome

 20

Cytoband

 q13.33

Chromosome location (bp)

 62816244 - 62841159

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000092758 (version 83.38)

Entrez gene

 1299

UniProt

 Q14050 (UniProt - Evidence at protein level)

neXtProt

 NX_Q14050

Antibodypedia

 COL9A3 antibodies

PROTEIN BROWSER
COL9A3-001
COL9A3-005

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
COL9A3-001
ENSP00000341640
ENST00000343916
Q14050 [Direct mapping]
Collagen alpha-3(IX) chain
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   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:0005576 [extracellular region]
GO:0005578 [proteinaceous extracellular matrix]
GO:0005594 [collagen type IX trimer]
GO:0005788 [endoplasmic reticulum lumen]
GO:0007411 [axon guidance]
GO:0008584 [male gonad development]
GO:0008585 [female gonad development]
GO:0022617 [extracellular matrix disassembly]
GO:0030020 [extracellular matrix structural constituent conferring tensile strength]
GO:0030198 [extracellular matrix organization]
GO:0030574 [collagen catabolic process]
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 684 aa
63.6 kDa 		Yes 0
COL9A3-005
ENSP00000394280
ENST00000452372
Q4VXW1 [Direct mapping]
Collagen alpha-3(IX) chain
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Predicted intracellular proteins
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 191 aa
17.6 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.