Details for: COL4A4

Gene ID: 1286

Symbol: COL4A4

Ensembl ID: ENSG00000081052

Description: collagen type IV alpha 4 chain

Associated with

Cells (max top 100)

(Marker Scores and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 4.15
    Marker Score: 5,587
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 3.14
    Marker Score: 1,831
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 2.89
    Marker Score: 5,563
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 2.79
    Marker Score: 1,634
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 2.62
    Marker Score: 3,172
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 2.46
    Marker Score: 2,495
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 2.45
    Marker Score: 1,292
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 1.85
    Marker Score: 773
  • Cell Name: type I pneumocyte (CL0002062)
    Fold Change: 1.73
    Marker Score: 2,085
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 1.61
    Marker Score: 4,313
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 1.53
    Marker Score: 742
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 1.48
    Marker Score: 1,705
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 168,933
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 1.47
    Marker Score: 3,231
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 1.45
    Marker Score: 395
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 1.38
    Marker Score: 402
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.36
    Marker Score: 864
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.27
    Marker Score: 2,984
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.25
    Marker Score: 5,250
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.25
    Marker Score: 849
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 1.24
    Marker Score: 1,316
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.23
    Marker Score: 893
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 1.22
    Marker Score: 3,067
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 1.17
    Marker Score: 1,450
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 1.16
    Marker Score: 482
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.15
    Marker Score: 4,805
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 1.11
    Marker Score: 351
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.1
    Marker Score: 17,590
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 1.08
    Marker Score: 498
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.04
    Marker Score: 791
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,812
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48,037
  • Cell Name: podocyte (CL0000653)
    Fold Change: 1
    Marker Score: 368
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.98
    Marker Score: 335
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,407
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.98
    Marker Score: 504
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.97
    Marker Score: 458
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.97
    Marker Score: 352
  • Cell Name: fat cell (CL0000136)
    Fold Change: 0.96
    Marker Score: 539
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2,411
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.92
    Marker Score: 370
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2,734
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.91
    Marker Score: 407
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 323
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.9
    Marker Score: 5,124
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 0.88
    Marker Score: 835
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,280
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.86
    Marker Score: 202
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.85
    Marker Score: 5,114
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.83
    Marker Score: 895
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 0.81
    Marker Score: 423
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.8
    Marker Score: 1,327
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.77
    Marker Score: 1,255
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 0.77
    Marker Score: 3,213
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 0.76
    Marker Score: 950
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 0.76
    Marker Score: 197
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 393
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.75
    Marker Score: 689
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.75
    Marker Score: 152
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.75
    Marker Score: 829
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.74
    Marker Score: 11,525
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.73
    Marker Score: 335
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.72
    Marker Score: 458
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.71
    Marker Score: 228
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.7
    Marker Score: 221
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: 0.69
    Marker Score: 591
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 176
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.69
    Marker Score: 7,074
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.68
    Marker Score: 968
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.68
    Marker Score: 177
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.66
    Marker Score: 2,341
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.65
    Marker Score: 498
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.64
    Marker Score: 1,302
  • Cell Name: epithelial cell of glomerular capsule (CL1000450)
    Fold Change: 0.62
    Marker Score: 158
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.62
    Marker Score: 370
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 0.61
    Marker Score: 9,096
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.57
    Marker Score: 146
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 444
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.55
    Marker Score: 147
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.55
    Marker Score: 230
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.54
    Marker Score: 172
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 0.53
    Marker Score: 3,432
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 0.53
    Marker Score: 4,026
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.52
    Marker Score: 164
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.5
    Marker Score: 6,627
  • Cell Name: IgG memory B cell (CL0000979)
    Fold Change: 0.49
    Marker Score: 294
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 0.45
    Marker Score: 733
  • Cell Name: class switched memory B cell (CL0000972)
    Fold Change: 0.44
    Marker Score: 411
  • Cell Name: monocyte (CL0000576)
    Fold Change: 0.43
    Marker Score: 560
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.43
    Marker Score: 203
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 0.42
    Marker Score: 111
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 0.4
    Marker Score: 2,116
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.4
    Marker Score: 13,583
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.4
    Marker Score: 162
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.4
    Marker Score: 1,006
  • Cell Name: ionocyte (CL0005006)
    Fold Change: 0.4
    Marker Score: 121
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.39
    Marker Score: 122
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 0.38
    Marker Score: 191
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.37
    Marker Score: 368
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 0.36
    Marker Score: 402

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** COL4A4 is a member of the collagen family, specifically type IV collagen, which is a network-forming collagen that provides mechanical strength and structural support to tissues. This particular chain is essential for the formation of basement membranes, which separate epithelial and endothelial cells from the underlying connective tissue. COL4A4 is composed of three alpha chains (IVα1, IVα2, and IVα3) that interact to form a tetrameric structure, which is then incorporated into the basement membrane. **Pathways and Functions:** COL4A4 is involved in various cellular processes, including: 1. **Anchoring fibril formation:** COL4A4 interacts with laminin and nidogen to form anchoring fibrils, which are critical for maintaining the structural integrity of basement membranes. 2. **Assembly of collagen fibrils:** COL4A4 is essential for the assembly of collagen fibrils, which are composed of type IV collagen and other ECM components. 3. **Basement membrane formation:** COL4A4 plays a crucial role in the formation and maintenance of basement membranes, which separate epithelial and endothelial cells from the underlying connective tissue. 4. **Extracellular matrix organization:** COL4A4 is involved in the organization of the ECM, which provides structural support and mechanical strength to tissues. 5. **Cell adhesion:** COL4A4 interacts with integrins and other ECM components to facilitate cell adhesion and migration. **Clinical Significance:** Dysregulation of COL4A4 has been implicated in various diseases, including: 1. **Alport syndrome:** A genetic disorder characterized by kidney disease, hearing loss, and eye abnormalities, caused by mutations in the COL4A3, COL4A4, and COL4A5 genes. 2. **Diabetic nephropathy:** COL4A4 is involved in the development of diabetic nephropathy, a leading cause of chronic kidney disease. 3. **Pulmonary fibrosis:** COL4A4 has been implicated in the pathogenesis of pulmonary fibrosis, a condition characterized by scarring of lung tissue. 4. **Cancer:** COL4A4 has been shown to be involved in the progression of certain cancers, including lung, breast, and colon cancer. In conclusion, COL4A4 is a critical component of the extracellular matrix that plays a vital role in maintaining tissue structure and function. Its dysregulation has been implicated in various diseases, highlighting the importance of further research into the mechanisms of COL4A4 and its role in human health and disease.

Genular Protein ID: 4233271545

Symbol: CO4A4_HUMAN

Name: Collagen alpha-4(IV) chain

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 7523402

Title: Complete primary structure of the human type IV collagen alpha 4(IV) chain. Comparison with structure and expression of the other alpha (IV) chains.

PubMed ID: 7523402

DOI: 10.1016/s0021-9258(18)47174-8

PubMed ID: 9792860

Title: Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.

PubMed ID: 9792860

DOI: 10.1086/302106

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 9537506

Title: Two genes, COL4A3 and COL4A4 coding for the human alpha3(IV) and alpha4(IV) collagen chains are arranged head-to-head on chromosome 2q36.

PubMed ID: 9537506

DOI: 10.1016/s0014-5793(98)00128-8

PubMed ID: 8365481

Title: cDNA isolation and partial gene structure of the human alpha 4(IV) collagen chain.

PubMed ID: 8365481

DOI: 10.1016/0014-5793(93)80256-t

PubMed ID: 1429714

Title: Isolation and sequencing of cDNAs and genomic DNAs encoding the alpha 4 chain of basement membrane collagen type IV and assignment of the gene to the distal long arm of human chromosome 2.

PubMed ID: 1429714

DOI: 10.1016/s0021-9258(18)35902-7

PubMed ID: 8083201

Title: Complete primary structure of the human alpha 3(IV) collagen chain. Coexpression of the alpha 3(IV) and alpha 4(IV) collagen chains in human tissues.

PubMed ID: 8083201

DOI: 10.1016/s0021-9258(17)31612-5

PubMed ID: 12193605

Title: Quaternary organization of the goodpasture autoantigen, the alpha 3(IV) collagen chain. Sequestration of two cryptic autoepitopes by intrapromoter interactions with the alpha4 and alpha5 NC1 domains.

PubMed ID: 12193605

DOI: 10.1074/jbc.m207769200

PubMed ID: 29777959

Title: Extracellular matrix component expression in human pluripotent stem cell-derived retinal organoids recapitulates retinogenesis in vivo and reveals an important role for IMPG1 and CD44 in the development of photoreceptors and interphotoreceptor matrix.

PubMed ID: 29777959

DOI: 10.1016/j.actbio.2018.05.023

PubMed ID: 9195222

Title: The clinical spectrum of type IV collagen mutations.

PubMed ID: 9195222

DOI: 10.1002/(sici)1098-1004(1997)9:6<477::aid-humu1>3.0.co;2-#

PubMed ID: 7987396

Title: Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome.

PubMed ID: 7987396

DOI: 10.1038/ng0994-77

PubMed ID: 8787673

Title: Benign familial hematuria due to mutation of the type IV collagen alpha4 gene.

PubMed ID: 8787673

DOI: 10.1172/jci118893

PubMed ID: 11961012

Title: Mutations in the COL4A4 and COL4A3 genes cause familial benign hematuria.

PubMed ID: 11961012

DOI: 10.1681/asn.v1351248

PubMed ID: 12631110

Title: Mutations in the COL4A4 gene in thin basement membrane disease.

PubMed ID: 12631110

DOI: 10.1046/j.1523-1755.2003.00780.x

Sequence Information:

  • Length: 1690
  • Mass: 164038
  • Checksum: C55711CDF14A57DB
  • Sequence:
  • MWSLHIVLMR CSFRLTKSLA TGPWSLILIL FSVQYVYGSG KKYIGPCGGR DCSVCHCVPE 
    KGSRGPPGPP GPQGPIGPLG APGPIGLSGE KGMRGDRGPP GAAGDKGDKG PTGVPGFPGL 
    DGIPGHPGPP GPRGKPGMSG HNGSRGDPGF PGGRGALGPG GPLGHPGEKG EKGNSVFILG 
    AVKGIQGDRG DPGLPGLPGS WGAGGPAGPT GYPGEPGLVG PPGQPGRPGL KGNPGVGVKG 
    QMGDPGEVGQ QGSPGPTLLV EPPDFCLYKG EKGIKGIPGM VGLPGPPGRK GESGIGAKGE 
    KGIPGFPGPR GDPGSYGSPG FPGLKGELGL VGDPGLFGLI GPKGDPGNRG HPGPPGVLVT 
    PPLPLKGPPG DPGFPGRYGE TGDVGPPGPP GLLGRPGEAC AGMIGPPGPQ GFPGLPGLPG 
    EAGIPGRPDS APGKPGKPGS PGLPGAPGLQ GLPGSSVIYC SVGNPGPQGI KGKVGPPGGR 
    GPKGEKGNEG LCACEPGPMG PPGPPGLPGR QGSKGDLGLP GWLGTKGDPG PPGAEGPPGL 
    PGKHGASGPP GNKGAKGDMV VSRVKGHKGE RGPDGPPGFP GQPGSHGRDG HAGEKGDPGP 
    PGDHEDATPG GKGFPGPLGP PGKAGPVGPP GLGFPGPPGE RGHPGVPGHP GVRGPDGLKG 
    QKGDTISCNV TYPGRHGPPG FDGPPGPKGF PGPQGAPGLS GSDGHKGRPG TPGTAEIPGP 
    PGFRGDMGDP GFGGEKGSSP VGPPGPPGSP GVNGQKGIPG DPAFGHLGPP GKRGLSGVPG 
    IKGPRGDPGC PGAEGPAGIP GFLGLKGPKG REGHAGFPGV PGPPGHSCER GAPGIPGQPG 
    LPGYPGSPGA PGGKGQPGDV GPPGPAGMKG LPGLPGRPGA HGPPGLPGIP GPFGDDGLPG 
    PPGPKGPRGL PGFPGFPGER GKPGAEGCPG AKGEPGEKGM SGLPGDRGLR GAKGAIGPPG 
    DEGEMAIISQ KGTPGEPGPP GDDGFPGERG DKGTPGMQGR RGEPGRYGPP GFHRGEPGEK 
    GQPGPPGPPG PPGSTGLRGF IGFPGLPGDQ GEPGSPGPPG FSGIDGARGP KGNKGDPASH 
    FGPPGPKGEP GSPGCPGHFG ASGEQGLPGI QGPRGSPGRP GPPGSSGPPG CPGDHGMPGL 
    RGQPGEMGDP GPRGLQGDPG IPGPPGIKGP SGSPGLNGLH GLKGQKGTKG ASGLHDVGPP 
    GPVGIPGLKG ERGDPGSPGI SPPGPRGKKG PPGPPGSSGP PGPAGATGRA PKDIPDPGPP 
    GDQGPPGPDG PRGAPGPPGL PGSVDLLRGE PGDCGLPGPP GPPGPPGPPG YKGFPGCDGK 
    DGQKGPVGFP GPQGPHGFPG PPGEKGLPGP PGRKGPTGLP GPRGEPGPPA DVDDCPRIPG 
    LPGAPGMRGP EGAMGLPGMR GPSGPGCKGE PGLDGRRGVD GVPGSPGPPG RKGDTGEDGY 
    PGGPGPPGPI GDPGPKGFGP GYLGGFLLVL HSQTDQEPTC PLGMPRLWTG YSLLYLEGQE 
    KAHNQDLGLA GSCLPVFSTL PFAYCNIHQV CHYAQRNDRS YWLASAAPLP MMPLSEEAIR 
    PYVSRCAVCE APAQAVAVHS QDQSIPPCPQ TWRSLWIGYS FLMHTGAGDQ GGGQALMSPG 
    SCLEDFRAAP FLECQGRQGT CHFFANKYSF WLTTVKADLQ FSSAPAPDTL KESQAQRQKI 
    SRCQVCVKYS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.