Seroatlas · Human Serome Atlas

FAXDC2

Fatty acid hydroxylase domain-containing protein 2

Also known as: C5orf4, FLJ13758, FXDC2_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q96IV6
Gene: FAXDC2
Ensembl: ENSG00000170271
Chromosome: 5
Canonical length: 333 aa
Protein class: Metabolic proteins, Predicted intracellular proteins, Predicted membrane proteins

OverviewNCBI Gene

Predicted to enable C-4 methylsterol oxidase activity. Involved in positive regulation of megakaryocyte differentiation and positive regulation of protein phosphorylation. Located in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

333 residues, UniProt reviewed canonical sequence.

>Q96IV6|FAXDC2
     1  MKGEAGHMLH NEKSKQEGHI WGSMRRTAFI LGSGLLSFVA FWNSVTWHLQ RFWGASGYFW
    61  QAQWERLLTT FEGKEWILFF IGAIQVPCLF FWSFNGLLLV VDTTGKPNFI SRYRIQVGKN
   121  EPVDPVKLRQ SIRTVLFNQC MISFPMVVFL YPFLKWWRDP CRRELPTFHW FLLELAIFTL
   181  IEEVLFYYSH RLLHHPTFYK KIHKKHHEWT APIGVISLYA HPIEHAVSNM LPVIVGPLVM
   241  GSHLSSITMW FSLALIITTI SHCGYHLPFL PSPEFHDYHH LKFNQCYGVL GVLDHLHGTD
   301  TMFKQTKAYE RHVLLLGFTP LSESIPDSPK RME

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FAXDC2 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: Intracellular
Secreted: No
Transmembrane segments: 6
Mean surface accessibility (rSASA): 0.3
Highest tissue expression: 287 nTPM

Expression across tissuesHPA

Tissue

parathyroid gland: 287 nTPM
liver: 131 nTPM
choroid plexus: 87 nTPM
spinal cord: 84 nTPM
ovary: 57 nTPM
epididymis: 53 nTPM

Single-cell type

platelets: 708 nCPM
oligodendrocytes: 245 nCPM
choroid plexus epithelial cells: 170 nCPM
megakaryocytes: 155 nCPM
leydig cells: 154 nCPM
müller glia: 125 nCPM

Immune cell

total PBMC: 6.6 nTPM
neutrophil: 4.1 nTPM
basophil: 3.5 nTPM
NK-cell: 2.3 nTPM
eosinophil: 1.3 nTPM
myeloid DC: 1.1 nTPM

Brain region

white matter: 166 nTPM
basal ganglia: 122 nTPM
medulla oblongata: 121 nTPM
cerebellum: 114 nTPM
midbrain: 110 nTPM
thalamus: 98 nTPM

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): 1.23
gnomAD pLI: 0
gnomAD missense Z: 0.6
DepMap mean gene effect: 0.04
DepMap dependency class: selective

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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads FAXDC2 as an antibody target. Whether an autoantibody or antibody against FAXDC2 could matter depends on whether native FAXDC2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

FAXDC2 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 FAXDC2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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