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COL4A4 collagen type IV alpha 4 chain [ Homo sapiens (human) ]

Gene ID: 1286, updated on 16-Mar-2019

Summary

Official Symbol
COL4A4provided by HGNC
Official Full Name
collagen type IV alpha 4 chainprovided by HGNC
Primary source
HGNC:HGNC:2206
See related
Ensembl:ENSG00000081052 MIM:120131
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BFH; ATS2; CA44
Summary
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 RefSeq, Jul 2008]
Expression
Broad expression in kidney (RPKM 5.3), thyroid (RPKM 4.9) and 18 other tissues See more
Orthologs

Genomic context

See COL4A4 in Genome Data Viewer
Location:
2q36.3
Exon count:
54
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (226970293..227164559, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (227867427..228029275, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene microRNA 5702 Neighboring gene insulin receptor substrate 1 Neighboring gene rhomboid domain containing 1 Neighboring gene collagen type IV alpha 3 chain Neighboring gene uncharacterized LOC654841 Neighboring gene stress induced phosphoprotein 1 pseudogene 2 Neighboring gene mitochondrial fission factor

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Alport syndrome, autosomal recessive
MedGen: C1567744 OMIM: 203780 GeneReviews: Alport Syndrome
Compare labs
Benign familial hematuria
MedGen: C0241908 OMIM: 141200 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 and serum-free macrophage supernatant (MSP) enhance synthesis of type IV collagen by mesangial cells; anti-TGF-beta antibodies attenuate this gp160/MSP-induced collagen synthesis PubMed
Tat tat HIV-1 Tat enhances adhesion of human U937 monocyte-like cells to proteins of the extracellular matrix, such as collagen IV, laminin, and ECM1 PubMed
tat Treatment with cannabinoids inhibits HIV-1 Tat-enhanced attachment of U937 cells to collagen IV, laminin, or ECM1 proteins, which is linked to the cannabinoid receptor type 2 and the modulation of beta1-integrin and actin distribution PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • AGE-RAGE signaling pathway in diabetic complications, organism-specific biosystem (from KEGG)
    AGE-RAGE signaling pathway in diabetic complications, organism-specific biosystemAdvanced glycation end products (AGEs) are a complex group of compounds produced through the non-enzymatic glycation and oxidation of proteins, lipids and nucleic acids, primarily due to aging and un...
  • AGE-RAGE signaling pathway in diabetic complications, conserved biosystem (from KEGG)
    AGE-RAGE signaling pathway in diabetic complications, conserved biosystemAdvanced glycation end products (AGEs) are a complex group of compounds produced through the non-enzymatic glycation and oxidation of proteins, lipids and nucleic acids, primarily due to aging and un...
  • Amoebiasis, organism-specific biosystem (from KEGG)
    Amoebiasis, organism-specific biosystemEntamoeba histolytica, an extracellular protozoan parasite is a human pathogen that invades the intestinal epithelium. Infection occurs on ingestion of contaminated water and food. The pathogenesis o...
  • Amoebiasis, conserved biosystem (from KEGG)
    Amoebiasis, conserved biosystemEntamoeba histolytica, an extracellular protozoan parasite is a human pathogen that invades the intestinal epithelium. Infection occurs on ingestion of contaminated water and food. The pathogenesis o...
  • Assembly of collagen fibrils and other multimeric structures, organism-specific biosystem (from REACTOME)
    Assembly of collagen fibrils and other multimeric structures, organism-specific biosystemCollagen trimers in triple-helical form, referred to as procollagen or collagen molecules, are exported from the ER and trafficked through the Golgi network before secretion into the extracellular sp...
  • Axon guidance, organism-specific biosystem (from REACTOME)
    Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
  • Collagen biosynthesis and modifying enzymes, organism-specific biosystem (from REACTOME)
    Collagen biosynthesis and modifying enzymes, organism-specific biosystemThe biosynthesis of collagen is a multistep process. Collagen propeptides are cotranslationally translocated into the ER lumen. Propeptides undergo a number of post-translational modifications. Proli...
  • Collagen chain trimerization, organism-specific biosystem (from REACTOME)
    Collagen chain trimerization, organism-specific biosystemThe C-propeptides of collagen propeptide chains are essential for the association of three peptide chains into a trimeric but non-helical procollagen. This initial binding event determines the compo...
  • Collagen formation, organism-specific biosystem (from REACTOME)
    Collagen formation, organism-specific biosystemCollagen is a family of at least 29 structural proteins derived from over 40 human genes (Myllyharju & Kivirikko 2004). It is the main component of connective tissue, and the most abundant protein in...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • ECM-receptor interaction, organism-specific biosystem (from KEGG)
    ECM-receptor interaction, organism-specific biosystemThe extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell ...
  • ECM-receptor interaction, conserved biosystem (from KEGG)
    ECM-receptor interaction, conserved biosystemThe extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell ...
  • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
    Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
  • Focal Adhesion, organism-specific biosystem (from WikiPathways)
    Focal Adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
  • Focal adhesion, organism-specific biosystem (from KEGG)
    Focal adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
  • Focal adhesion, conserved biosystem (from KEGG)
    Focal adhesion, conserved biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
  • Integrin cell surface interactions, organism-specific biosystem (from REACTOME)
    Integrin cell surface interactions, organism-specific biosystemThe extracellular matrix (ECM) is a network of macro-molecules that underlies all epithelia and endothelia and that surrounds all connective tissue cells. This matrix provides the mechanical strength...
  • NCAM signaling for neurite out-growth, organism-specific biosystem (from REACTOME)
    NCAM signaling for neurite out-growth, organism-specific biosystemThe neural cell adhesion molecule, NCAM, is a member of the immunoglobulin (Ig) superfamily and is involved in a variety of cellular processes of importance for the formation and maintenance of the n...
  • NCAM1 interactions, organism-specific biosystem (from REACTOME)
    NCAM1 interactions, organism-specific biosystemThe neural cell adhesion molecule, NCAM1 is generally considered as a cell adhesion mediator, but it is also considered to be a signal transducing receptor molecule. NCAM1 is involved in multiple cis...
  • PI3K-Akt signaling pathway, organism-specific biosystem (from KEGG)
    PI3K-Akt signaling pathway, organism-specific biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
  • PI3K-Akt signaling pathway, conserved biosystem (from KEGG)
    PI3K-Akt signaling pathway, conserved biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
  • Pathways in cancer, organism-specific biosystem (from KEGG)
    Pathways in cancer, organism-specific biosystem
    Pathways in cancer
  • Primary Focal Segmental Glomerulosclerosis FSGS, organism-specific biosystem (from WikiPathways)
    Primary Focal Segmental Glomerulosclerosis FSGS, organism-specific biosystemPrimary or idiopathic focal segmental glomerulosclerosis (FSGS) a cause of nephrotic syndrome in children and adolescents, as well as an important cause of end stage renal disease in adults. FSGS is ...
  • Protein digestion and absorption, organism-specific biosystem (from KEGG)
    Protein digestion and absorption, organism-specific biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...
  • Protein digestion and absorption, conserved biosystem (from KEGG)
    Protein digestion and absorption, conserved biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by PDGF, organism-specific biosystem (from REACTOME)
    Signaling by PDGF, organism-specific biosystemPlatelet-derived Growth Factor (PDGF) is a potent stimulator of growth and motility of connective tissue cells such as fibroblasts and smooth muscle cells as well as other cells such as capillary end...
  • Small cell lung cancer, organism-specific biosystem (from KEGG)
    Small cell lung cancer, organism-specific biosystemLung cancer is a leading cause of cancer death among men and women in industrialized countries. Small cell lung carcinoma (SCLC) is a highly aggressive neoplasm, which accounts for approximately 25% ...
  • Small cell lung cancer, conserved biosystem (from KEGG)
    Small cell lung cancer, conserved biosystemLung cancer is a leading cause of cancer death among men and women in industrialized countries. Small cell lung carcinoma (SCLC) is a highly aggressive neoplasm, which accounts for approximately 25% ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
angiogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endothelial cell morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular matrix organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular matrix organization TAS
Traceable Author Statement
more info
 
glomerular basement membrane development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glomerular basement membrane development IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
basement membrane IDA
Inferred from Direct Assay
more info
PubMed 
collagen type IV trimer IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
collagen type IV trimer IDA
Inferred from Direct Assay
more info
PubMed 
collagen-containing extracellular matrix HDA PubMed 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
collagen alpha-4(IV) chain
Names
Collagen IV, alpha-4 polypeptide
collagen of basement membrane, alpha-4 chain
collagen, type IV, alpha 4

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011592.1 RefSeqGene

    Range
    5001..166849
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_231

mRNA and Protein(s)

  1. NM_000092.4NP_000083.3  collagen alpha-4(IV) chain precursor

    See identical proteins and their annotated locations for NP_000083.3

    Status: REVIEWED

    Source sequence(s)
    AC073149, AC079235, BX094848, X81053
    Consensus CDS
    CCDS42828.1
    UniProtKB/Swiss-Prot
    P53420
    Related
    ENSP00000379866.3, ENST00000396625.4
    Conserved Domains (2) summary
    pfam01391
    Location:829880
    Collagen; Collagen triple helix repeat (20 copies)
    pfam01413
    Location:14661570
    C4; C-terminal tandem repeated domain in type 4 procollagen

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    226970293..227164559 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011510565.2XP_011508867.1  collagen alpha-4(IV) chain isoform X11

    Conserved Domains (1) summary
    pfam01391
    Location:829880
    Collagen; Collagen triple helix repeat (20 copies)
  2. XM_011510570.2XP_011508872.1  collagen alpha-4(IV) chain isoform X14

    See identical proteins and their annotated locations for XP_011508872.1

    Conserved Domains (1) summary
    pfam01391
    Location:829880
    Collagen; Collagen triple helix repeat (20 copies)
  3. XM_011510562.2XP_011508864.1  collagen alpha-4(IV) chain isoform X8

    See identical proteins and their annotated locations for XP_011508864.1

    Conserved Domains (3) summary
    pfam01391
    Location:829880
    Collagen; Collagen triple helix repeat (20 copies)
    pfam01413
    Location:14661570
    C4; C-terminal tandem repeated domain in type 4 procollagen
    cl02467
    Location:15741607
    C4; C-terminal tandem repeated domain in type 4 procollagen
  4. XM_011510569.2XP_011508871.1  collagen alpha-4(IV) chain isoform X14

    See identical proteins and their annotated locations for XP_011508871.1

    Conserved Domains (1) summary
    pfam01391
    Location:829880
    Collagen; Collagen triple helix repeat (20 copies)
  5. XM_017003300.1XP_016858789.1  collagen alpha-4(IV) chain isoform X14

    Conserved Domains (1) summary
    pfam01391
    Location:829880
    Collagen; Collagen triple helix repeat (20 copies)
  6. XM_011510567.2XP_011508869.1  collagen alpha-4(IV) chain isoform X12

    See identical proteins and their annotated locations for XP_011508869.1

    Conserved Domains (1) summary
    pfam01391
    Location:829880
    Collagen; Collagen triple helix repeat (20 copies)
  7. XM_011510566.2XP_011508868.1  collagen alpha-4(IV) chain isoform X12

    See identical proteins and their annotated locations for XP_011508868.1

    Conserved Domains (1) summary
    pfam01391
    Location:829880
    Collagen; Collagen triple helix repeat (20 copies)
  8. XM_011510561.2XP_011508863.1  collagen alpha-4(IV) chain isoform X8

    See identical proteins and their annotated locations for XP_011508863.1

    Conserved Domains (3) summary
    pfam01391
    Location:829880
    Collagen; Collagen triple helix repeat (20 copies)
    pfam01413
    Location:14661570
    C4; C-terminal tandem repeated domain in type 4 procollagen
    cl02467
    Location:15741607
    C4; C-terminal tandem repeated domain in type 4 procollagen
  9. XM_017003298.1XP_016858787.1  collagen alpha-4(IV) chain isoform X8

    Conserved Domains (3) summary
    pfam01391
    Location:829880
    Collagen; Collagen triple helix repeat (20 copies)
    pfam01413
    Location:14661570
    C4; C-terminal tandem repeated domain in type 4 procollagen
    cl02467
    Location:15741607
    C4; C-terminal tandem repeated domain in type 4 procollagen
  10. XM_011510560.2XP_011508862.1  collagen alpha-4(IV) chain isoform X7

    See identical proteins and their annotated locations for XP_011508862.1

    Conserved Domains (3) summary
    pfam01391
    Location:829880
    Collagen; Collagen triple helix repeat (20 copies)
    pfam01413
    Location:14661570
    C4; C-terminal tandem repeated domain in type 4 procollagen
    cl02467
    Location:15741605
    C4; C-terminal tandem repeated domain in type 4 procollagen
  11. XM_011510559.2XP_011508861.1  collagen alpha-4(IV) chain isoform X7

    See identical proteins and their annotated locations for XP_011508861.1

    Conserved Domains (3) summary
    pfam01391
    Location:829880
    Collagen; Collagen triple helix repeat (20 copies)
    pfam01413
    Location:14661570
    C4; C-terminal tandem repeated domain in type 4 procollagen
    cl02467
    Location:15741605
    C4; C-terminal tandem repeated domain in type 4 procollagen
  12. XM_005246281.3XP_005246338.1  collagen alpha-4(IV) chain isoform X1

    See identical proteins and their annotated locations for XP_005246338.1

    UniProtKB/Swiss-Prot
    P53420
    Conserved Domains (2) summary
    pfam01391
    Location:829880
    Collagen; Collagen triple helix repeat (20 copies)
    pfam01413
    Location:14661570
    C4; C-terminal tandem repeated domain in type 4 procollagen
  13. XM_005246282.3XP_005246339.1  collagen alpha-4(IV) chain isoform X10

    Conserved Domains (2) summary
    pfam01391
    Location:644695
    Collagen; Collagen triple helix repeat (20 copies)
    pfam01413
    Location:12811385
    C4; C-terminal tandem repeated domain in type 4 procollagen
  14. XM_011510558.2XP_011508860.1  collagen alpha-4(IV) chain isoform X4

    Conserved Domains (2) summary
    pfam01391
    Location:793844
    Collagen; Collagen triple helix repeat (20 copies)
    pfam01413
    Location:14301534
    C4; C-terminal tandem repeated domain in type 4 procollagen
  15. XM_011510557.2XP_011508859.1  collagen alpha-4(IV) chain isoform X2

    Conserved Domains (2) summary
    pfam01391
    Location:829880
    Collagen; Collagen triple helix repeat (20 copies)
    pfam01413
    Location:14391543
    C4; C-terminal tandem repeated domain in type 4 procollagen
  16. XM_017003297.1XP_016858786.1  collagen alpha-4(IV) chain isoform X5

  17. XM_011510572.3XP_011508874.1  collagen alpha-4(IV) chain isoform X15

    Conserved Domains (2) summary
    pfam01391
    Location:271322
    Collagen; Collagen triple helix repeat (20 copies)
    pfam01413
    Location:9081012
    C4; C-terminal tandem repeated domain in type 4 procollagen
  18. XM_006712246.3XP_006712309.1  collagen alpha-4(IV) chain isoform X6

    Conserved Domains (3) summary
    pfam01391
    Location:829880
    Collagen; Collagen triple helix repeat (20 copies)
    pfam01413
    Location:15111623
    C4; C-terminal tandem repeated domain in type 4 procollagen
    cl02467
    Location:14451507
    C4; C-terminal tandem repeated domain in type 4 procollagen
  19. XM_017003296.1XP_016858785.1  collagen alpha-4(IV) chain isoform X3

  20. XM_017003299.1XP_016858788.1  collagen alpha-4(IV) chain isoform X9

  21. XM_011510568.2XP_011508870.1  collagen alpha-4(IV) chain isoform X13

    Conserved Domains (1) summary
    pfam01391
    Location:829880
    Collagen; Collagen triple helix repeat (20 copies)

RNA

  1. XR_001738607.1 RNA Sequence

  2. XR_001738606.1 RNA Sequence

  3. XR_001738603.1 RNA Sequence

  4. XR_922837.2 RNA Sequence

  5. XR_001738602.1 RNA Sequence

  6. XR_001738604.1 RNA Sequence

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