Seroatlas · Human Serome Atlas

CYP4V2

Cytochrome P450 4V2

Also known as: CP4V2_HUMAN, CYP4AH1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q6ZWL3
Gene
CYP4V2
Ensembl
ENSG00000145476
Chromosome
4
Canonical length
525 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins
Subcellular location
Nuclear speckles

OverviewNCBI Gene

This gene encodes a member of the cytochrome P450 hemethiolate protein superfamily which are involved in oxidizing various substrates in the metabolic pathway. It is implicated in the metabolism of fatty acid precursors into n-3 polyunsaturated fatty acids. Mutations in this gene result in Bietti crystalline corneoretinal dystrophy. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

525 residues, UniProt reviewed canonical sequence.

>Q6ZWL3|CYP4V2
     1  MAGLWLGLVW QKLLLWGAAS ALSLAGASLV LSLLQRVASY ARKWQQMRPI PTVARAYPLV
    61  GHALLMKPDG REFFQQIIEY TEEYRHMPLL KLWVGPVPMV ALYNAENVEV ILTSSKQIDK
   121  SSMYKFLEPW LGLGLLTSTG NKWRSRRKML TPTFHFTILE DFLDIMNEQA NILVKKLEKH
   181  INQEAFNCFF YITLCALDII CETAMGKNIG AQSNDDSEYV RAVYRMSEMI FRRIKMPWLW
   241  LDLWYLMFKE GWEHKKSLQI LHTFTNSVIA ERANEMNANE DCRGDGRGSA PSKNKRRAFL
   301  DLLLSVTDDE GNRLSHEDIR EEVDTFMFEG HDTTAAAINW SLYLLGSNPE VQKKVDHELD
   361  DVFGKSDRPA TVEDLKKLRY LECVIKETLR LFPSVPLFAR SVSEDCEVAG YRVLKGTEAV
   421  IIPYALHRDP RYFPNPEEFQ PERFFPENAQ GRHPYAYVPF SAGPRNCIGQ KFAVMEEKTI
   481  LSCILRHFWI ESNQKREELG LEGQLILRPS NGIWIKLKRR NADER

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CYP4V2 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
Other membrane
Secreted
No
Transmembrane segments
1
Mean surface accessibility (rSASA)
0.25
Highest tissue expression
106 nTPM

Expression across tissuesHPA

Tissue

  • liver: 106 nTPM
  • kidney: 32 nTPM
  • parathyroid gland: 31 nTPM
  • thyroid gland: 16 nTPM
  • small intestine: 16 nTPM
  • adrenal gland: 16 nTPM

Single-cell type

  • müller glia: 73 nCPM
  • astrocytes: 68 nCPM
  • choroid plexus epithelial cells: 60 nCPM
  • bergmann glia: 54 nCPM
  • lactotrophs: 53 nCPM
  • proximal tubule cells: 47 nCPM

Immune cell

  • non-classical monocyte: 3.1 nTPM
  • intermediate monocyte: 1.9 nTPM
  • gdT-cell: 1.8 nTPM
  • memory CD8 T-cell: 1.8 nTPM
  • memory CD4 T-cell: 1.4 nTPM
  • naive CD4 T-cell: 1.3 nTPM

Brain region

  • choroid plexus: 44 nTPM
  • basal ganglia: 20 nTPM
  • white matter: 19 nTPM
  • midbrain: 19 nTPM
  • cerebellum: 18 nTPM
  • spinal cord: 18 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CYP4V2.

Disease | AllUniProt

Conditions CYP4V2 is implicated in, by any mechanism.

  • Bietti crystalline corneoretinal dystrophy (BCD) MIM:210370

Disease | GeneticClinVar

88 pathogenic / likely-pathogenic of 618 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
1.03
gnomAD pLI
0
gnomAD missense Z
-0.12
DepMap mean gene effect
0.14
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CYP4V2 as an antibody target. Whether an autoantibody or antibody against CYP4V2 could matter depends on whether native CYP4V2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CYP4V2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label CYP4V2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/CYP4V2. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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