Seroatlas · Human Serome Atlas

SAMD12

Sterile alpha motif domain-containing protein 12

Also known as: FLJ39458, SAM12_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q8N8I0
Gene
SAMD12
Ensembl
ENSG00000177570
Chromosome
8
Canonical length
201 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Golgi apparatus,Cytosol

OverviewNCBI Gene

Predicted to be involved in cell surface receptor protein tyrosine kinase signaling pathway. Predicted to be active in cytoplasmic side of plasma membrane. Implicated in familial adult myoclonic epilepsy 1. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

201 residues, UniProt reviewed canonical sequence.

>Q8N8I0|SAMD12
     1  MAVEALHCGL NPRGIDHPAH AEGIKLQIEG EGVESQSIKN KNFQKVPDQK GTPKRLQAEA
    61  ETAKSATVKL SKPVALWTQQ DVCKWLKKHC PNQYQIYSES FKQHDITGRA LLRLTDKKLE
   121  RMGIAQENLR QHILQQVLQL KVREEVRNLQ LLTQGTLLLP DGWMDGEIRR KTTLLLGQTG
   181  VRENLLLFLH RISIIENSIQ I

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SAMD12 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
Unknown
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.5
Highest tissue expression
9.5 nTPM

Expression across tissuesHPA

Tissue

  • thyroid gland: 9.5 nTPM
  • parathyroid gland: 9.1 nTPM
  • cerebral cortex: 7.7 nTPM
  • heart muscle: 6.5 nTPM
  • spinal cord: 5.7 nTPM
  • retina: 5.4 nTPM

Single-cell type

  • thyrotrophs: 1,054 nCPM
  • oligodendrocytes: 1,005 nCPM
  • lactotrophs: 978 nCPM
  • somatotrophs: 834 nCPM
  • renal collecting duct principal cells: 795 nCPM
  • renal collecting duct intercalated cells: 645 nCPM

Immune cell

  • memory B-cell: 1.5 nTPM
  • MAIT T-cell: 1 nTPM
  • naive B-cell: 1 nTPM
  • naive CD4 T-cell: 1 nTPM
  • memory CD4 T-cell: 0.8 nTPM
  • T-reg: 0.8 nTPM

Brain region

  • cerebral cortex: 39 nTPM
  • white matter: 38 nTPM
  • basal ganglia: 29 nTPM
  • hippocampal formation: 28 nTPM
  • pons: 26 nTPM
  • thalamus: 24 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SAMD12.

Disease | AllUniProt

Conditions SAMD12 is implicated in, by any mechanism.

  • Epilepsy, familial adult myoclonic, 1 (FAME1) MIM:601068

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 51 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Epilepsy, familial adult myoclonic, 1

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)
1.14
gnomAD pLI
0
gnomAD missense Z
-0.08
DepMap mean gene effect
0
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SAMD12 as an antibody target. Whether an autoantibody or antibody against SAMD12 could matter depends on whether native SAMD12 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SAMD12 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 SAMD12 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SAMD12. 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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