Details for: COL4A3

Gene ID: 1285

Symbol: COL4A3

Ensembl ID: ENSG00000169031

Description: collagen type IV alpha 3 chain

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 4.46
    Marker Score: 5999
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 3.59
    Marker Score: 4344
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 3.17
    Marker Score: 1846
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 2.81
    Marker Score: 1644
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 2.67
    Marker Score: 5134
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 2.55
    Marker Score: 5595.5
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 2.53
    Marker Score: 2562
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 2.36
    Marker Score: 1234.5
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 2.35
    Marker Score: 1239
  • Cell Name: type I pneumocyte (CL0002062)
    Fold Change: 2.28
    Marker Score: 2743
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 2.12
    Marker Score: 5677
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 2.1
    Marker Score: 8787
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 2.06
    Marker Score: 861
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 1.87
    Marker Score: 546
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 1.63
    Marker Score: 4093
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 1.61
    Marker Score: 439
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.6
    Marker Score: 1166
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 1.56
    Marker Score: 1800
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 1.54
    Marker Score: 1901
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 1.53
    Marker Score: 1619
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 168274
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.44
    Marker Score: 1438.5
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 1.44
    Marker Score: 522
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.37
    Marker Score: 868
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 1.34
    Marker Score: 651
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.28
    Marker Score: 20621
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.26
    Marker Score: 853
  • Cell Name: podocyte (CL0000653)
    Fold Change: 1.24
    Marker Score: 458
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.21
    Marker Score: 2851
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 1.18
    Marker Score: 1275
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 1.17
    Marker Score: 486
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 1.16
    Marker Score: 521
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.15
    Marker Score: 4806
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 1.14
    Marker Score: 4060.5
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 1.13
    Marker Score: 359
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 1.09
    Marker Score: 502
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 1.07
    Marker Score: 1185
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 1.06
    Marker Score: 813
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71810
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48034
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.99
    Marker Score: 508
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30407
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.98
    Marker Score: 461
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 0.96
    Marker Score: 913
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2411
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.93
    Marker Score: 374
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.92
    Marker Score: 5278
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.91
    Marker Score: 417.5
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2736
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.91
    Marker Score: 326
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.89
    Marker Score: 280.5
  • Cell Name: fat cell (CL0000136)
    Fold Change: 0.88
    Marker Score: 494
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5282
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 0.86
    Marker Score: 223
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.85
    Marker Score: 652
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.85
    Marker Score: 13285
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.8
    Marker Score: 421
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.8
    Marker Score: 161
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.78
    Marker Score: 8086
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1266
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.77
    Marker Score: 707
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 0.77
    Marker Score: 11582
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.77
    Marker Score: 245
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 397
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.77
    Marker Score: 195
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.76
    Marker Score: 4586
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.76
    Marker Score: 10138
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 0.76
    Marker Score: 943
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.76
    Marker Score: 1071
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.75
    Marker Score: 256
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.75
    Marker Score: 304
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.72
    Marker Score: 461
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.71
    Marker Score: 2873.5
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.7
    Marker Score: 179
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.68
    Marker Score: 177
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 0.64
    Marker Score: 2651
  • Cell Name: follicular B cell (CL0000843)
    Fold Change: 0.6
    Marker Score: 651
  • Cell Name: ionocyte (CL0005006)
    Fold Change: 0.59
    Marker Score: 179
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.58
    Marker Score: 969
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.57
    Marker Score: 1163
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.56
    Marker Score: 149
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 448
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.56
    Marker Score: 337
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.55
    Marker Score: 18655
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.55
    Marker Score: 191
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.55
    Marker Score: 230
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.55
    Marker Score: 174
  • Cell Name: monocyte (CL0000576)
    Fold Change: 0.54
    Marker Score: 706
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.53
    Marker Score: 170
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 0.53
    Marker Score: 4032
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.52
    Marker Score: 164
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 0.49
    Marker Score: 247
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.49
    Marker Score: 673
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.47
    Marker Score: 192
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.46
    Marker Score: 1641
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.46
    Marker Score: 107
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.45
    Marker Score: 417
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.44
    Marker Score: 248
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.43
    Marker Score: 126
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 0.43
    Marker Score: 2789

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Other Information

**Key characteristics:** * Col4a3 is a transmembrane protein that is expressed in a variety of cell types. * It is a key component of the ECM of the skin, cartilage, and other tissues. * It is also found in the ECM of blood vessels and the lens of the eye. * Col4a3 is a major component of anchoring fibril formation and the assembly of collagen fibrils. * It is also involved in axon guidance, collagen biosynthesis and modifying enzymes, and the degradation of the extracellular matrix. **Pathways and functions:** * Col4a3 is involved in the formation of the ECM. * It is a key component of the extracellular matrix of blood vessels and the lens of the eye. * It is also involved in the development of the nervous system. * It is a major component of the basement membrane of skin and cartilage. **Clinical significance:** * Mutations in the COL4A3 gene have been linked to a number of human diseases, including alkaptonuria, cataracts, and dry eyes. * These diseases are caused by mutations in genes that encode collagen type IV alpha 3 chains. * Col4a3 mutations can also be caused by mutations in other genes that are involved in the ECM. * Targeting COL4A3 has been investigated as a potential treatment for these diseases. **Additional notes:** * Col4a3 is a highly conserved protein. It is found in mammals of all species. * It is a transmembrane protein that is expressed on the surface of cells. * It is a glycoprotein that is composed of three types of polypeptide chains. * It is a major component of the ECM of blood vessels and the lens of the eye.

Genular Protein ID: 4167604688

Symbol: CO4A3_HUMAN

Name: Collagen alpha-3(IV) chain

UniProtKB Accession Codes:

Database IDs:

Citations:

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: 11134255

Title: Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome.

PubMed ID: 11134255

DOI: 10.1681/asn.v12197

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: 1737849

Title: Molecular cloning of the human Goodpasture antigen demonstrates it to be the alpha 3 chain of type IV collagen.

PubMed ID: 1737849

DOI: 10.1172/jci115625

PubMed ID: 1400291

Title: Exon/intron structure of the human alpha 3(IV) gene encompassing the Goodpasture antigen (alpha 3(IV)NC1). Identification of a potentially antigenic region at the triple helix/NC1 domain junction.

PubMed ID: 1400291

DOI: 10.1016/s0021-9258(19)88621-0

PubMed ID: 8006044

Title:

PubMed ID: 8006044

DOI: 10.1016/s0021-9258(17)32561-9

PubMed ID: 7758473

Title: Characterization and expression of multiple alternatively spliced transcripts of the Goodpasture antigen gene region. Goodpasture antibodies recognize recombinant proteins representing the autoantigen and one of its alternative forms.

PubMed ID: 7758473

DOI: 10.1111/j.1432-1033.1995.tb20524.x

PubMed ID: 10766752

Title: Distinct antitumor properties of a type IV collagen domain derived from basement membrane.

PubMed ID: 10766752

DOI: 10.1074/jbc.m001956200

PubMed ID: 8294492

Title: Alternative splicing of the NC1 domain of the human alpha 3(IV) collagen gene. Differential expression of mRNA transcripts that predict three protein variants with distinct carboxyl regions.

PubMed ID: 8294492

DOI: 10.1016/s0021-9258(17)42173-9

PubMed ID: 1882840

Title: Sequence and localization of a partial cDNA encoding the human alpha 3 chain of type IV collagen.

PubMed ID: 1882840

PubMed ID: 8505332

Title: The human mRNA encoding the Goodpasture antigen is alternatively spliced.

PubMed ID: 8505332

DOI: 10.1016/s0021-9258(19)50312-x

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: 10212244

Title: Characterization of a novel type of serine/threonine kinase that specifically phosphorylates the human goodpasture antigen.

PubMed ID: 10212244

DOI: 10.1074/jbc.274.18.12642

PubMed ID: 10837460

Title: Two RGD-independent alpha vbeta 3 integrin binding sites on tumstatin regulate distinct anti-tumor properties.

PubMed ID: 10837460

DOI: 10.1074/jbc.c000186200

PubMed ID: 11044206

Title: Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation.

PubMed ID: 11044206

DOI: 10.1111/j.1523-1755.2000.00358.x

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: 12682293

Title: Human tumstatin and human endostatin exhibit distinct antiangiogenic activities mediated by alpha v beta 3 and alpha 5 beta 1 integrins.

PubMed ID: 12682293

DOI: 10.1073/pnas.0730882100

PubMed ID: 15492988

Title: Implication of tumstatin in tumor progression of human bronchopulmonary carcinomas.

PubMed ID: 15492988

DOI: 10.1016/j.humpath.2004.06.008

PubMed ID: 7987301

Title: Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome.

PubMed ID: 7987301

DOI: 10.1093/hmg/3.8.1269

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: 15954103

Title: Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.

PubMed ID: 15954103

DOI: 10.1002/humu.9349

PubMed ID: 29946535

Title: Heterozygous COL4A3 variants in histologically diagnosed focal segmental glomerulosclerosis.

PubMed ID: 29946535

DOI: 10.3389/fped.2018.00171

Sequence Information:

  • Length: 1670
  • Mass: 161813
  • Checksum: AA65D50903D82B99
  • Sequence:
  • MSARTAPRPQ VLLLPLLLVL LAAAPAASKG CVCKDKGQCF CDGAKGEKGE KGFPGPPGSP 
    GQKGFTGPEG LPGPQGPKGF PGLPGLTGSK GVRGISGLPG FSGSPGLPGT PGNTGPYGLV 
    GVPGCSGSKG EQGFPGLPGT LGYPGIPGAA GLKGQKGAPA KEEDIELDAK GDPGLPGAPG 
    PQGLPGPPGF PGPVGPPGPP GFFGFPGAMG PRGPKGHMGE RVIGHKGERG VKGLTGPPGP 
    PGTVIVTLTG PDNRTDLKGE KGDKGAMGEP GPPGPSGLPG ESYGSEKGAP GDPGLQGKPG 
    KDGVPGFPGS EGVKGNRGFP GLMGEDGIKG QKGDIGPPGF RGPTEYYDTY QEKGDEGTPG 
    PPGPRGARGP QGPSGPPGVP GSPGSSRPGL RGAPGWPGLK GSKGERGRPG KDAMGTPGSP 
    GCAGSPGLPG SPGPPGPPGD IVFRKGPPGD HGLPGYLGSP GIPGVDGPKG EPGLLCTQCP 
    YIPGPPGLPG LPGLHGVKGI PGRQGAAGLK GSPGSPGNTG LPGFPGFPGA QGDPGLKGEK 
    GETLQPEGQV GVPGDPGLRG QPGRKGLDGI PGTPGVKGLP GPKGELALSG EKGDQGPPGD 
    PGSPGSPGPA GPAGPPGYGP QGEPGLQGTQ GVPGAPGPPG EAGPRGELSV STPVPGPPGP 
    PGPPGHPGPQ GPPGIPGSLG KCGDPGLPGP DGEPGIPGIG FPGPPGPKGD QGFPGTKGSL 
    GCPGKMGEPG LPGKPGLPGA KGEPAVAMPG GPGTPGFPGE RGNSGEHGEI GLPGLPGLPG 
    TPGNEGLDGP RGDPGQPGPP GEQGPPGRCI EGPRGAQGLP GLNGLKGQQG RRGKTGPKGD 
    PGIPGLDRSG FPGETGSPGI PGHQGEMGPL GQRGYPGNPG ILGPPGEDGV IGMMGFPGAI 
    GPPGPPGNPG TPGQRGSPGI PGVKGQRGTP GAKGEQGDKG NPGPSEISHV IGDKGEPGLK 
    GFAGNPGEKG NRGVPGMPGL KGLKGLPGPA GPPGPRGDLG STGNPGEPGL RGIPGSMGNM 
    GMPGSKGKRG TLGFPGRAGR PGLPGIHGLQ GDKGEPGYSE GTRPGPPGPT GDPGLPGDMG 
    KKGEMGQPGP PGHLGPAGPE GAPGSPGSPG LPGKPGPHGD LGFKGIKGLL GPPGIRGPPG 
    LPGFPGSPGP MGIRGDQGRD GIPGPAGEKG ETGLLRAPPG PRGNPGAQGA KGDRGAPGFP 
    GLPGRKGAMG DAGPRGPTGI EGFPGPPGLP GAIIPGQTGN RGPPGSRGSP GAPGPPGPPG 
    SHVIGIKGDK GSMGHPGPKG PPGTAGDMGP PGRLGAPGTP GLPGPRGDPG FQGFPGVKGE 
    KGNPGFLGSI GPPGPIGPKG PPGVRGDPGT LKIISLPGSP GPPGTPGEPG MQGEPGPPGP 
    PGNLGPCGPR GKPGKDGKPG TPGPAGEKGN KGSKGEPGPA GSDGLPGLKG KRGDSGSPAT 
    WTTRGFVFTR HSQTTAIPSC PEGTVPLYSG FSFLFVQGNQ RAHGQDLGTL GSCLQRFTTM 
    PFLFCNVNDV CNFASRNDYS YWLSTPALMP MNMAPITGRA LEPYISRCTV CEGPAIAIAV 
    HSQTTDIPPC PHGWISLWKG FSFIMFTSAG SEGTGQALAS PGSCLEEFRA SPFLECHGRG 
    TCNYYSNSYS FWLASLNPER MFRKPIPSTV KAGELEKIIS RCQVCMKKRH

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. For the full schema, download it here.