COL4A3

GENERAL INFORMATION

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Gene name

COL4A3

Gene description

Collagen, type IV, alpha 3 (Goodpasture antigen)

Protein class

Cancer-related genes
Disease related genes
Plasma proteins
Predicted intracellular proteins
Predicted secreted proteins

Predicted localization

Intracellular,Secreted

Number of transcripts

2
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enhanced (kidney, lung)
GTEx:Tissue enhanced (kidney, thyroid gland)

Protein evidence

Evidence at protein level

Protein localization

Superficial gastric mucosa, glandular cells in cervix and trophoblasts showed strong cytoplasmic positivity. Fractions of cells in renal glomeruli and parts of the intestine were moderately stained. Plasma, subsets of stromal cells and the basement membrane in for example bladder was distinctly stained. Normal tissues in general were negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA042064
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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 (kidney, lung)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (kidney, thyroid gland)

Organ

Expression



GENE INFORMATION

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Gene name

COL4A3

Synonyms

Description

Collagen, type IV, alpha 3 (Goodpasture antigen) (HGNC Symbol)

Entrez gene summary

Type IV collagen, the major structural component of basement membranes, is a multimeric protein composed of 3 alpha subunits. These subunits are encoded by 6 different genes, alpha 1 through alpha 6, each of which can form a triple helix structure with 2 other subunits to form type IV collagen. This gene encodes alpha 3. In the Goodpasture syndrome, autoantibodies bind to the collagen molecules in the basement membranes of alveoli and glomeruli. The epitopes that elicit these autoantibodies are localized largely to the non-collagenous C-terminal domain of the protein. A specific kinase phosphorylates amino acids in this same C-terminal region and the expression of this kinase is upregulated during pathogenesis. This gene is also linked to an autosomal recessive form of Alport syndrome. The mutations contributing to this syndrome are also located within the exons that encode this C-terminal region. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jun 2010]

Chromosome

2

Cytoband

q36.3

Chromosome location (bp)

227164565 - 227314792

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000169031 (version 78.38)

Entrez gene

1285

UniProt

Q01955 (UniProt - Evidence at protein level)

neXtProt

NX_Q01955

Antibodypedia

COL4A3 antibodies


PROTEIN BROWSER

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ENST00000304990
 
ENST00000396578
 
 
 
 


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)

COL4A3-001 ENSP00000379823
ENST00000396578
Q01955
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Show » Show » 1670 161.8 Yes 0
COL4A3-004 ENSP00000302781
ENST00000304990
H7BXM4
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Show » 156 14.7 No 0