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Tbio
COL4A4
Collagen alpha-4(IV) chain

Protein Summary
Description
Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen. This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. This particular collagen IV subunit, however, is only found in a subset of basement membranes. 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. Mutations in this gene are associated with type II autosomal recessive Alport syndrome (hereditary glomerulonephropathy) and with familial benign hematuria (thin basement membrane disease). Two transcripts, differing only in their transcription start sites, have been identified for this gene and, as is common for collagen genes, multiple polyadenylation sites are found in the 3' UTR. [provided by RefSe ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000396625
  • ENSP00000379866
  • ENSG00000081052

Symbol
  • BFH
  • ATS2
  • CA44
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
transcription factor perturbation
0.8
microRNA
0.7
histone modification site profile
0.66
tissue sample
0.65
cellular component
0.57


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 115.33   (req: < 5)
Gene RIFs: 51   (req: <= 3)
Antibodies: 66   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 115.33   (req: >= 5)
Gene RIFs: 51   (req: > 3)
Antibodies: 66   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 5
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (2)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
urinary albumin to creatinine ratio
3
3
3
66.2
albuminuria
2
1
2
36.8
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
urinary albumin to creatinine ratio
3
66.2
albuminuria
2
36.8
Orthologs (9)
1 – 5 of 9
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Macaque
collagen type IV alpha 4 chain
708287
Mouse
MGI:104687
12829
Dog
collagen type IV alpha 4 chain
VGNC:39476
403841
Horse
collagen type IV alpha 4 chain
VGNC:16741
100062160
Cow
collagen type IV alpha 4 chain
VGNC:50083
407107
Species
Name
OMA
EggNOG
Inparanoid
Macaque
collagen type IV alpha 4 chain
Mouse
Dog
collagen type IV alpha 4 chain
Horse
collagen type IV alpha 4 chain
Cow
collagen type IV alpha 4 chain
Protein Structure (1 Structure, 1 AlphaFold Model)
RepresentationColor Scheme

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-P53420-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 1 of 1
PDB Structure Id
Ligand
Method
Resolution (Å)
Residues
Fraction of Total Protein
Pub Year
Title
PDB Structure Id
Fraction of Total Protein
Resolution
Pub Year
Pathways (35)
Assembly of collagen fibrils and other multimeric structures (R-HSA-2022090)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 13
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Assembly of collagen fibrils and other multimeric structures
Reactome
Axon guidance
Reactome
Collagen biosynthesis and modifying enzymes
Reactome
Collagen chain trimerization
Reactome
Collagen formation
Name
Explore in Pharos
Explore in Source
Assembly of collagen fibrils and other multimeric structures
Axon guidance
Collagen biosynthesis and modifying enzymes
Collagen chain trimerization
Collagen formation
Gene Ontology Terms (11)
Items per page:
10
1 – 1 of 1
GO Term
Evidence
Assigned by
Inferred from Mutant Phenotype (IMP)
UniProtKB
Protein-Protein Interactions (137)
1 – 10 of 137
LAIR2
Tbio
Novelty: 0.06117644
p_int: 0.995786517
p_ni: 1.13e-7
p_wrong: 0.00421337
Data Source: BioPlex
COL4A3
Tbio
Novelty: 0.00296126
Score: 0.949
Data Source: Reactome,STRINGDB
COL6A6
Tbio
Novelty: 0.11314196
Score: 0.929
Data Source: STRINGDB
COL1A2
Tbio
Novelty: 0.00048334
Score: 0.928
Data Source: STRINGDB
ITGB1
Tclin
Novelty: 0.00055626
Score: 0.926
Data Source: STRINGDB
COL19A1
Tbio
Novelty: 0.15030115
Score: 0.925
Data Source: STRINGDB
COL5A1
Tbio
Novelty: 0.00506815
Score: 0.925
Data Source: STRINGDB
COL5A2
Tbio
Novelty: 0.01352973
Score: 0.924
Data Source: STRINGDB
COL8A1
Tbio
Novelty: 0.02203574
Score: 0.924
Data Source: STRINGDB
COL11A1
Tbio
Novelty: 0.00594683
Score: 0.923
Data Source: STRINGDB
Publication Statistics
PubMed Score  115.33

PubMed score by year
PubTator Score  89.3

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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