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Gene

COL4A4

collagen type IV alpha 4 chain

Summary

Cytogenetic location
2q36.3
Coordinates
Chromosome 2: 227,002,714–227,164,205 (GRCh38)
Exons
48 exons across 161.5 kb
Protein
1,690 amino acids
Also known as
CA44
MANE Select transcript
ENST00000396625.5NM_000092.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Alport Syndrome

    • A rare renal disease characterized by glomerular nephropathy with hematuria progressing to end-stage renal disease (ESRD), frequently associated with sensorineural deafness, and occasionally with ocular anomalies.

      • ClinGen rates the link definitive
      • 7 GenCC submitters rate it definitive or strong
      What knowing changes

      ACE inhibitors (ramipril, first-line, ideally before proteinuria); ARBs if ACEi-intolerant; kidney transplantation for ESRD; hearing aids; annual ophthalmological and audiological monitoring

How COL4A4 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 2, with a bracket where COL4A4 sits. COL4A4 and 7 genes near it on chromosome 2, from 226,583,460 to 227,583,459.Chromosome 22q36.3p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.3226.6 Mb226.8 Mb227 Mb227.2 Mb227.4 MbIRS1: 226,731,312–226,799,850, reverse strandIRS1RHBDD1: 226,835,581–227,001,006, forward strandRHBDD1COL4A4: 227,002,714–227,164,205, reverse strandCOL4A4COL4A3: 227,164,509–227,314,792, forward strandCOL4A3MFF: 227,325,151–227,361,188, forward strandMFFTM4SF20: 227,362,038–227,381,995, reverse strandTM4SF20SCYGR1: 227,387,683–227,387,949, reverse strandSCYGR1AGFG1: 227,472,134–227,561,411, forward strandAGFG1Diagram of COL4A4: 48 exons on the reverse strand of chromosome 2Exon 48: 12 known disease-causing sitesExon 47: 30 known disease-causing sitesExon 46: 19 known disease-causing sitesExon 45: 13 known disease-causing sitesExon 44: 13 known disease-causing sitesExon 42: 10 known disease-causing sitesExon 41: 17 known disease-causing sitesExon 40: 15 known disease-causing sitesExon 39: 15 known disease-causing sitesExon 38: 14 known disease-causing sitesExon 37: 17 known disease-causing sitesExon 36: 13 known disease-causing sitesExon 35: 9 known disease-causing sitesExon 34: 12 known disease-causing sitesExon 33: 32 known disease-causing sitesExon 32: 14 known disease-causing sitesExon 31: 20 known disease-causing sitesExon 30: 26 known disease-causing sitesExon 29: 22 known disease-causing sitesExon 28: 31 known disease-causing sitesExon 27: 12 known disease-causing sitesExon 26: 5 known disease-causing sitesExon 25: 35 known disease-causing sitesExon 24: 13 known disease-causing sitesExon 23: 4 known disease-causing sitesExon 22: 19 known disease-causing sitesExon 21: 14 known disease-causing sitesExon 20: 24 known disease-causing sitesExon 19: 15 known disease-causing sitesExon 18: 7 known disease-causing sitesExon 17: 8 known disease-causing sitesExon 16: 6 known disease-causing sitesExon 15: 4 known disease-causing sitesExon 14: 9 known disease-causing sitesExon 13: 8 known disease-causing sitesExon 12: 8 known disease-causing sitesExon 11: 7 known disease-causing sitesExon 10: 9 known disease-causing sitesExon 9: 5 known disease-causing sitesExon 8: 7 known disease-causing sitesExon 7: 12 known disease-causing sitesExon 6: 7 known disease-causing sitesExon 5: 12 known disease-causing sitesExon 4: 12 known disease-causing sitesExon 3: 8 known disease-causing sitesExon 2: 1 known disease-causing siteExon 48: 227,002,714–227,007,588, 4,875 basesExon 47: 227,008,018–227,008,304, 287 basesExon 46: 227,010,313–227,010,501, 189 basesExon 45: 227,012,181–227,012,297, 117 basesExon 44: 227,022,048–227,022,173, 126 basesExon 43: 227,025,802–227,025,810, 9 basesExon 42: 227,027,902–227,028,009, 108 basesExon 41: 227,030,443–227,030,598, 156 basesExon 40: 227,031,945–227,032,055, 111 basesExon 39: 227,032,148–227,032,276, 129 basesExon 38: 227,033,410–227,033,481, 72 basesExon 37: 227,042,148–227,042,255, 108 basesExon 36: 227,043,077–227,043,184, 108 basesExon 35: 227,047,475–227,047,549, 75 basesExon 34: 227,050,068–227,050,131, 64 basesExon 33: 227,050,977–227,051,158, 182 basesExon 32: 227,052,305–227,052,412, 108 basesExon 31: 227,054,594–227,054,737, 144 basesExon 30: 227,055,945–227,056,115, 171 basesExon 29: 227,057,439–227,057,600, 162 basesExon 28: 227,059,405–227,059,623, 219 basesExon 27: 227,060,136–227,060,243, 108 basesExon 26: 227,062,530–227,062,598, 69 basesExon 25: 227,077,894–227,078,077, 184 basesExon 24: 227,080,443–227,080,549, 107 basesExon 23: 227,082,115–227,082,187, 73 basesExon 22: 227,088,653–227,088,816, 164 basesExon 21: 227,089,868–227,089,957, 90 basesExon 20: 227,094,125–227,094,289, 165 basesExon 19: 227,098,694–227,098,798, 105 basesExon 18: 227,099,620–227,099,689, 70 basesExon 17: 227,101,504–227,101,557, 54 basesExon 16: 227,101,865–227,101,909, 45 basesExon 15: 227,102,789–227,102,848, 60 basesExon 14: 227,103,144–227,103,197, 54 basesExon 13: 227,103,972–227,104,052, 81 basesExon 12: 227,108,581–227,108,622, 42 basesExon 11: 227,108,833–227,108,868, 36 basesExon 10: 227,109,224–227,109,286, 63 basesExon 9: 227,111,678–227,111,713, 36 basesExon 8: 227,114,628–227,114,696, 69 basesExon 7: 227,118,645–227,118,761, 117 basesExon 6: 227,119,895–227,119,939, 45 basesExon 5: 227,121,014–227,121,148, 135 basesExon 4: 227,140,161–227,140,238, 78 basesExon 3: 227,144,516–227,144,558, 43 basesExon 2: 227,147,413–227,147,584, 172 basesExon 1: 227,164,007–227,164,205, 199 bases484540353025201510515′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 10 kb of the gene's 161.5 kb; 5,073 of those bases code for the protein.

How a genome test reads COL4A4

720

positions in COL4A4 where ClinVar classes a change as pathogenic or likely pathogenic

1 of them (0.1%) falls in a region short reads find hard.

  • Low mappability (1 site)Regions where 100 bp or 250 bp reads cannot be placed uniquely.

A whole genome covers all 161.5 kb of COL4A4, introns included, not only the 10 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). COL4A4 gene: collagen type IV alpha 4 chain. Retrieved 17 October 2026, from https://dantelabs.com/genes/col4a4

Vancouver

Dante Labs. COL4A4 gene: collagen type IV alpha 4 chain [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/col4a4

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