Seroatlas · Human Serome Atlas

MTHFD2L

Bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial

Also known as: MGC72244, MTD2L_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q9H903
Gene: MTHFD2L
Ensembl: ENSG00000163738
Chromosome: 4
Canonical length: 347 aa
Protein class: Enzymes, Metabolic proteins, Predicted intracellular proteins

OverviewNCBI Gene

Predicted to enable methenyltetrahydrofolate cyclohydrolase activity; methylenetetrahydrofolate dehydrogenase (NAD+) activity; and methylenetetrahydrofolate dehydrogenase (NADP+) activity. Predicted to be involved in tetrahydrofolate interconversion. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

347 residues, UniProt reviewed canonical sequence.

>Q9H903|MTHFD2L
     1  MTVPVRGFSL LRGRLGRAPA LGRSTAPSVR APGEPGSAFR GFRSSGVRHE AIIISGTEMA
    61  KHIQKEIQRG VESWVSLGNR RPHLSIILVG DNPASHTYVR NKIRAASAVG ICSELILKPK
   121  DVSQEELLDV TDQLNMDPRV SGILVQLPLP DHVDERTICN GIAPEKDVDG FHIINIGRLC
   181  LDQHSLIPAT ASAVWEIIKR TGIQTFGKNV VVAGRSKNVG MPIAMLLHTD GEHERPGGDA
   241  TVTIAHRYTP KEQLKIHTQL ADIIIVAAGI PKLITSDMVK EGAAVIDVGI NYVHDPVTGK
   301  TKLVGDVDFE AVKKKAGFIT PVPGGVGPMT VAMLLKNTLL AAKKIIY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MTHFD2L 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: 0
Mean surface accessibility (rSASA): 0.32
Highest tissue expression: 3.5 nTPM

Expression across tissuesHPA

Tissue

liver: 3.5 nTPM
heart muscle: 3.4 nTPM
epididymis: 3.1 nTPM
cerebral cortex: 1.5 nTPM
hypothalamus: 1.5 nTPM
spinal cord: 1.5 nTPM

Single-cell type

breast lactating cells: 635 nCPM
alveolar cells type 2: 300 nCPM
epididymal principal cells: 295 nCPM
hepatocytes: 248 nCPM
transitional alveolar cells: 200 nCPM
hematopoietic stem cells: 185 nCPM

Immune cell

plasmacytoid DC: 0.4 nTPM
memory B-cell: 0.3 nTPM
myeloid DC: 0.3 nTPM
T-reg: 0.3 nTPM
total PBMC: 0.3 nTPM
classical monocyte: 0.2 nTPM

Brain region

white matter: 3.1 nTPM
hypothalamus: 2.3 nTPM
cerebral cortex: 2 nTPM
midbrain: 2 nTPM
pons: 2 nTPM
medulla oblongata: 1.9 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): 1.16
gnomAD pLI: 0
gnomAD missense Z: -0.17
DepMap mean gene effect: 0.01
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

folic acid metabolic process
methionine biosynthetic process
purine nucleotide biosynthetic process
tetrahydrofolate interconversion
10-formyltetrahydrofolate metabolic process

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads MTHFD2L as an antibody target. Whether an autoantibody or antibody against MTHFD2L could matter depends on whether native MTHFD2L is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MTHFD2L 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 MTHFD2L as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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