Details for: COL4A3

Gene ID: 1285

Symbol: COL4A3

Ensembl ID: ENSG00000169031

Description: collagen type IV alpha 3 chain

Associated with

Cells (max top 100)

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

  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 35.9624
    Cell Significance Index: -14.6100
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 15.3183
    Cell Significance Index: -14.6300
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: 6.7573
    Cell Significance Index: 109.0300
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 5.6629
    Cell Significance Index: 81.3200
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 5.3873
    Cell Significance Index: 81.9600
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 3.1124
    Cell Significance Index: 75.9400
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 3.1025
    Cell Significance Index: -6.7900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 2.6382
    Cell Significance Index: 4865.4500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 1.9160
    Cell Significance Index: 2605.2000
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 1.8770
    Cell Significance Index: 41.1000
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 1.7696
    Cell Significance Index: 13.6400
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 1.6316
    Cell Significance Index: 41.9400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 1.0868
    Cell Significance Index: 34.8100
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 1.0317
    Cell Significance Index: 24.9900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.9554
    Cell Significance Index: 1470.8200
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.8433
    Cell Significance Index: 10.4600
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.4422
    Cell Significance Index: 305.8600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.3669
    Cell Significance Index: 166.5300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.3448
    Cell Significance Index: 649.2900
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.3107
    Cell Significance Index: 2.3900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.2639
    Cell Significance Index: 167.6300
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.2280
    Cell Significance Index: 45.2400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1657
    Cell Significance Index: 31.5300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.1634
    Cell Significance Index: 32.7800
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 0.1468
    Cell Significance Index: 1.7800
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.1464
    Cell Significance Index: 1.7500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1382
    Cell Significance Index: 49.5600
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: 0.1203
    Cell Significance Index: 1.5000
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1050
    Cell Significance Index: 10.3900
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 0.0689
    Cell Significance Index: 0.7900
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 0.0621
    Cell Significance Index: 0.6600
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.0412
    Cell Significance Index: 0.8100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0347
    Cell Significance Index: 25.4600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0342
    Cell Significance Index: 2.6300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.0187
    Cell Significance Index: 1.1500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.0046
    Cell Significance Index: 0.6700
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0044
    Cell Significance Index: 0.2800
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.0011
    Cell Significance Index: 0.9900
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0047
    Cell Significance Index: -0.0800
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.0053
    Cell Significance Index: -0.3200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0118
    Cell Significance Index: -8.9600
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: -0.0151
    Cell Significance Index: -0.1300
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0166
    Cell Significance Index: -0.6300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0191
    Cell Significance Index: -14.1200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0194
    Cell Significance Index: -0.8600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0225
    Cell Significance Index: -4.0600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0242
    Cell Significance Index: -13.1900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0255
    Cell Significance Index: -14.3600
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: -0.0260
    Cell Significance Index: -2.8300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0281
    Cell Significance Index: -4.8100
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0285
    Cell Significance Index: -17.8200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0347
    Cell Significance Index: -9.9900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0427
    Cell Significance Index: -4.4500
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.0444
    Cell Significance Index: -0.5600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0476
    Cell Significance Index: -4.8600
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0487
    Cell Significance Index: -1.0100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: -0.0570
    Cell Significance Index: -9.2800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0595
    Cell Significance Index: -2.7000
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.0655
    Cell Significance Index: -0.9300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0756
    Cell Significance Index: -15.9300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0896
    Cell Significance Index: -12.3000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0918
    Cell Significance Index: -10.8300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0924
    Cell Significance Index: -2.3100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0925
    Cell Significance Index: -3.2500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.0930
    Cell Significance Index: -6.4300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0961
    Cell Significance Index: -11.8200
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: -0.1097
    Cell Significance Index: -1.3700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1138
    Cell Significance Index: -3.1800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1157
    Cell Significance Index: -13.2600
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.1227
    Cell Significance Index: -2.6500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1234
    Cell Significance Index: -15.9400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1245
    Cell Significance Index: -8.3700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.1286
    Cell Significance Index: -3.7100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.1339
    Cell Significance Index: -2.9000
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.1444
    Cell Significance Index: -2.1600
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: -0.1538
    Cell Significance Index: -1.3300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1548
    Cell Significance Index: -9.4900
  • Cell Name: invaginating midget bipolar cell (CL4033034)
    Fold Change: -0.1685
    Cell Significance Index: -2.0800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1727
    Cell Significance Index: -9.6900
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: -0.1779
    Cell Significance Index: -1.3600
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.1855
    Cell Significance Index: -5.0500
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1865
    Cell Significance Index: -14.7700
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.1923
    Cell Significance Index: -4.1000
  • Cell Name: ON-bipolar cell (CL0000749)
    Fold Change: -0.1974
    Cell Significance Index: -2.2300
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.2002
    Cell Significance Index: -10.5100
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.2137
    Cell Significance Index: -3.2200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2143
    Cell Significance Index: -15.9700
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: -0.2179
    Cell Significance Index: -2.5300
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.2179
    Cell Significance Index: -3.1200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.2186
    Cell Significance Index: -10.1900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.2324
    Cell Significance Index: -12.0800
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.2332
    Cell Significance Index: -7.3800
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.2352
    Cell Significance Index: -5.6400
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.2491
    Cell Significance Index: -12.9800
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: -0.2491
    Cell Significance Index: -2.2500
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.2776
    Cell Significance Index: -7.3000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.3096
    Cell Significance Index: -14.5500
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: -0.3105
    Cell Significance Index: -3.3400
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.3174
    Cell Significance Index: -13.8000
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.3183
    Cell Significance Index: -11.1500

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 Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

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 Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: 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 Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: 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** 1. **Structural role**: The COL4A3 gene encodes for a collagen alpha-3(IV) chain, which forms a trimeric structure with collagen alpha-2(IV) and alpha-5(IV) chains, contributing to the formation of the basement membrane. 2. **Cellular localization**: The COL4A3 gene is expressed in various cell types, including lens epithelial cells, corneal endothelial cells, kidney interstitial fibroblasts, and ciliary muscle cells. 3. **Functional significance**: The COL4A3 gene plays a critical role in maintaining the integrity and function of the basement membrane, which is essential for cell adhesion, migration, and signaling. 4. **Pathway involvement**: The COL4A3 gene is involved in various signaling pathways, including the activation of cysteine-type endopeptidase activity, anchoring fibril formation, and axon guidance. **Pathways and Functions** 1. **Basement membrane formation and maintenance**: The COL4A3 gene plays a crucial role in the formation and maintenance of the basement membrane, which is essential for cell adhesion, migration, and signaling. 2. **Apoptotic process**: The COL4A3 gene is involved in the activation of cysteine-type endopeptidase activity, which is essential for the apoptotic process. 3. **Axon guidance**: The COL4A3 gene is involved in axon guidance, which is critical for the development and function of the nervous system. 4. **Cell adhesion and migration**: The COL4A3 gene plays a role in cell adhesion and migration, which is essential for various physiological processes, including wound healing and tissue repair. 5. **Signaling pathways**: The COL4A3 gene is involved in various signaling pathways, including the collagen-activated tyrosine kinase receptor signaling pathway and the signaling by pdgf pathway. **Clinical Significance** 1. **Basement membrane disorders**: Mutations in the COL4A3 gene can lead to basement membrane disorders, such as Alport syndrome, which is characterized by kidney disease, hearing loss, and eye abnormalities. 2. **Kidney disease**: The COL4A3 gene is involved in the development and progression of kidney disease, including Alport syndrome and membranous nephropathy. 3. **Eye disease**: The COL4A3 gene is involved in the development of eye disease, including glaucoma and macular degeneration. 4. **Wound healing**: The COL4A3 gene plays a role in wound healing, which is essential for tissue repair and regeneration. In conclusion, the COL4A3 gene plays a critical role in maintaining the integrity and function of the basement membrane, which is essential for various physiological processes, including cell adhesion, migration, and signaling. Mutations in the COL4A3 gene can lead to basement membrane disorders, including Alport syndrome, kidney disease, and eye disease. Understanding the role of the COL4A3 gene in these diseases can lead to the development of new therapeutic strategies for the treatment of these conditions.

Genular Protein ID: 4167604688

Symbol: CO4A3_HUMAN

Name: Collagen alpha-3(IV) chain

UniProtKB Accession Codes:

Q01955 Q53QQ1 Q53R14 Q53RW8 Q9BQT2 Q9NYC4 Q9UDJ9 Q9UDK9 Q9UDL0 Q9UDL1

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CORUM 1 CTD 1 ChEMBL 1 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 64 Ensembl 1 ExpressionAtlas 1 GO 25 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 7 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 2 PIR 4 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 5 RNAct 1 Reactome 13 RefSeq 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

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: 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: 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: 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: 23927549

Title: A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population.

PubMed ID: 23927549

DOI: 10.1111/cge.12247

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. 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.