Seroatlas · Human Serome Atlas

SUMF2

Inactive C-alpha-formylglycine-generating enzyme 2

Also known as: DKFZp566I1024, SUMF2_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q8NBJ7
Gene: SUMF2
Ensembl: ENSG00000129103
Chromosome: 7
Canonical length: 301 aa
Protein class: Plasma proteins, Predicted intracellular proteins
Subcellular location: Vesicles,Plasma membrane
Secretome location: Intracellular and membrane
Quaternary structure: Homodimer

OverviewNCBI Gene

The catalytic sites of sulfatases are only active if they contain a unique amino acid, C-alpha-formylglycine (FGly). The FGly residue is posttranslationally generated from a cysteine by enzymes with FGly-generating activity. The gene described in this record is a member of the sulfatase-modifying factor family and encodes a protein with a DUF323 domain that localizes to the lumen of the endoplasmic reticulum. This protein has low levels of FGly-generating activity but can heterodimerize with another family member - a protein with high levels of FGly-generating activity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

301 residues, UniProt reviewed canonical sequence.

>Q8NBJ7|SUMF2
     1  MARHGLPLLP LLSLLVGAWL KLGNGQATSM VQLQGGRFLM GTNSPDSRDG DGPVREATVK
    61  PFAIDIFPVT NKDFRDFVRE KKYRTEAEMF GWSFVFEDFV SDELRNKATQ PMKSVLWWLP
   121  VEKAFWRQPA GPGSGIRERL EHPVLHVSWN DARAYCAWRG KRLPTEEEWE FAARGGLKGQ
   181  VYPWGNWFQP NRTNLWQGKF PKGDKAEDGF HGVSPVNAFP AQNNYGLYDL LGNVWEWTAS
   241  PYQAAEQDMR VLRGASWIDT ADGSANHRAR VTTRMGNTPD SASDNLGFRC AADAGRPPGE
   301  L

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SUMF2 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: 0
Mean surface accessibility (rSASA): 0.29
Highest tissue expression: 109 nTPM

Expression across tissuesHPA

Tissue

parathyroid gland: 109 nTPM
choroid plexus: 98 nTPM
fallopian tube: 97 nTPM
pancreas: 93 nTPM
liver: 89 nTPM
stomach: 88 nTPM

Single-cell type

decidual stromal cells: 152 nCPM
fallopian tube ciliated cells: 143 nCPM
mucous neck cells: 141 nCPM
extravillous trophoblasts: 135 nCPM
gastric chief cells: 131 nCPM
gastric progenitor cells: 112 nCPM

Immune cell

plasmacytoid DC: 133 nTPM
MAIT T-cell: 91 nTPM
non-classical monocyte: 91 nTPM
total PBMC: 90 nTPM
T-reg: 83 nTPM
intermediate monocyte: 80 nTPM

Brain region

choroid plexus: 77 nTPM
medulla oblongata: 58 nTPM
white matter: 58 nTPM
thalamus: 49 nTPM
spinal cord: 46 nTPM
pons: 45 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SUMF2.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 124 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Multiple sulfatase deficiency

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): 1.28
gnomAD pLI: 0
gnomAD missense Z: -0.53
DepMap mean gene effect: 0.01
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 11% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SUMF2 as an antibody target. Whether an autoantibody or antibody against SUMF2 could matter depends on whether native SUMF2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SUMF2 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 SUMF2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...