COL4A6

Protein identityUniProt · HPA

UniProt accession

Q14031

Gene

COL4A6

Ensembl

ENSG00000197565

Chromosome

X

Canonical length

1691 aa

Protein class

Disease related genes, Human disease related genes, Predicted secreted proteins

Subcellular location

Endoplasmic reticulum

Secretome location

Secreted to extracellular matrix

OverviewNCBI Gene

This gene encodes one of the six subunits of type IV collagen, the major structural component 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, alpha 5 type IV collagen, so that the gene pair shares a common promoter. Deletions in the alpha 5 gene that extend into the alpha 6 gene result in diffuse leiomyomatosis accompanying the X-linked Alport syndrome caused by the deletion in the alpha 5 gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]

Canonical amino-acid sequenceUniProt

1691 residues, UniProt reviewed canonical sequence.

>Q14031|COL4A6
     1  MLINKLWLLL VTLCLTEELA AAGEKSYGKP CGGQDCSGSC QCFPEKGARG RPGPIGIQGP
    61  TGPQGFTGST GLSGLKGERG FPGLLGPYGP KGDKGPMGVP GFLGINGIPG HPGQPGPRGP
   121  PGLDGCNGTQ GAVGFPGPDG YPGLLGPPGL PGQKGSKGDP VLAPGSFKGM KGDPGLPGLD
   181  GITGPQGAPG FPGAVGPAGP PGLQGPPGPP GPLGPDGNMG LGFQGEKGVK GDVGLPGPAG
   241  PPPSTGELEF MGFPKGKKGS KGEPGPKGFP GISGPPGFPG LGTTGEKGEK GEKGIPGLPG
   301  PRGPMGSEGV QGPPGQQGKK GTLGFPGLNG FQGIEGQKGD IGLPGPDVFI DIDGAVISGN
   361  PGDPGVPGLP GLKGDEGIQG LRGPSGVPGL PALSGVPGAL GPQGFPGLKG DQGNPGRTTI
   421  GAAGLPGRDG LPGPPGPPGP PSPEFETETL HNKESGFPGL RGEQGPKGNL GLKGIKGDSG
   481  FCACDGGVPN TGPPGEPGPP GPWGLIGLPG LKGARGDRGS GGAQGPAGAP GLVGPLGPSG
   541  PKGKKGEPIL STIQGMPGDR GDSGSQGFRG VIGEPGKDGV PGLPGLPGLP GDGGQGFPGE
   601  KGLPGLPGEK GHPGPPGLPG NGLPGLPGPR GLPGDKGKDG LPGQQGLPGS KGITLPCIIP
   661  GSYGPSGFPG TPGFPGPKGS RGLPGTPGQP GSSGSKGEPG SPGLVHLPEL PGFPGPRGEK
   721  GLPGFPGLPG KDGLPGMIGS PGLPGSKGAT GDIFGAENGA PGEQGLQGLT GHKGFLGDSG
   781  LPGLKGVHGK PGLLGPKGER GSPGTPGQVG QPGTPGSSGP YGIKGKSGLP GAPGFPGISG
   841  HPGKKGTRGK KGPPGSIVKK GLPGLKGLPG NPGLVGLKGS PGSPGVAGLP ALSGPKGEKG
   901  SVGFVGFPGI PGLPGIPGTR GLKGIPGSTG KMGPSGRAGT PGEKGDRGNP GPVGIPSPRR
   961  PMSNLWLKGD KGSQGSAGSN GFPGPRGDKG EAGRPGPPGL PGAPGLPGII KGVSGKPGPP
  1021  GFMGIRGLPG LKGSSGITGF PGMPGESGSQ GIRGSPGLPG ASGLPGLKGD NGQTVEISGS
  1081  PGPKGQPGES GFKGTKGRDG LIGNIGFPGN KGEDGKVGVS GDVGLPGAPG FPGVAGMRGE
  1141  PGLPGSSGHQ GAIGPLGSPG LIGPKGFPGF PGLHGLNGLP GTKGTHGTPG PSITGVPGPA
  1201  GLPGPKGEKG YPGIGIGAPG KPGLRGQKGD RGFPGLQGPA GLPGAPGISL PSLIAGQPGD
  1261  PGRPGLDGER GRPGPAGPPG PPGPSSNQGD TGDPGFPGIP GPKGPKGDQG IPGFSGLPGE
  1321  LGLKGMRGEP GFMGTPGKVG PPGDPGFPGM KGKAGPRGSS GLQGDPGQTP TAEAVQVPPG
  1381  PLGLPGIDGI PGLTGDPGAQ GPVGLQGSKG LPGIPGKDGP SGLPGPPGAL GDPGLPGLQG
  1441  PPGFEGAPGQ QGPFGMPGMP GQSMRVGYTL VKHSQSEQVP PCPIGMSQLW VGYSLLFVEG
  1501  QEKAHNQDLG FAGSCLPRFS TMPFIYCNIN EVCHYARRND KSYWLSTTAP IPMMPVSQTQ
  1561  IPQYISRCSV CEAPSQAIAV HSQDITIPQC PLGWRSLWIG YSFLMHTAAG AEGGGQSLVS
  1621  PGSCLEDFRA TPFIECSGAR GTCHYFANKY SFWLTTVEER QQFGELPVSE TLKAGQLHTR
  1681  VSRCQVCMKS L

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against COL4A6 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Secreted

Secreted

Yes

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.67

Highest tissue expression

40 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about COL4A6.

Disease | AllUniProt

Conditions COL4A6 is implicated in, by any mechanism.

• Deafness, X-linked, 6 (DFNX6) MIM:300914

Disease | GeneticClinVar

6 pathogenic / likely-pathogenic of 907 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hearing loss, X-linked 6
• COL4A6-related disorder
• X-linked Alport syndrome

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.32

gnomAD pLI

0.9

gnomAD missense Z

1.48

DepMap mean gene effect

0.05

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cell adhesion
• cellular response to amino acid stimulus
• collagen fibril organization
• collagen-activated tyrosine kinase receptor signaling pathway

Molecular functions

• extracellular matrix structural constituent conferring tensile strength

Cellular components

• collagen type IV trimer
• endoplasmic reticulum lumen
• extracellular matrix
• extracellular region

Protein domainsUniProt · Pfam · InterPro

• Collagen IV, non-collagenous
• Collagen triple helix repeat
• C-type lectin fold
• Collagen IV, non-collagenous domain superfamily
• Collagen superfamily
• Collagen triple helix repeat (20 copies)
• C-terminal tandem repeated domain in type 4 procollagen

KeywordsUniProt

• Basement membrane
• Cell adhesion
• Chromosomal rearrangement
• Collagen
• Deafness
• Disulfide bond
• Extracellular matrix
• Glycoprotein
• Hydroxylation
• Non-syndromic deafness
• Repeat
• Secreted
• Signal