Seroatlas · Human Serome Atlas

SIM2

Single-minded homolog 2

Also known as: bHLHe15, MGC119447, SIM, SIM2_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q14190
Gene: SIM2
Ensembl: ENSG00000159263
Chromosome: 21
Canonical length: 667 aa
Protein class: Predicted intracellular proteins, Transcription factors
Subcellular location: Nucleoplasm,Nuclear bodies

OverviewNCBI Gene

This gene represents a homolog of the Drosophila single-minded (sim) gene, which encodes a transcription factor that is a master regulator of neurogenesis. The encoded protein is ubiquitinated by RING-IBR-RING-type E3 ubiquitin ligases, including the parkin RBR E3 ubiquitin protein ligase. This gene maps within the so-called Down syndrome chromosomal region, and is thus thought to contribute to some specific Down syndrome phenotypes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014]

Canonical amino-acid sequenceUniProt

667 residues, UniProt reviewed canonical sequence.

>Q14190|SIM2
     1  MKEKSKNAAK TRREKENGEF YELAKLLPLP SAITSQLDKA SIIRLTTSYL KMRAVFPEGL
    61  GDAWGQPSRA GPLDGVAKEL GSHLLQTLDG FVFVVASDGK IMYISETASV HLGLSQVELT
   121  GNSIYEYIHP SDHDEMTAVL TAHQPLHHHL LQEYEIERSF FLRMKCVLAK RNAGLTCSGY
   181  KVIHCSGYLK IRQYMLDMSL YDSCYQIVGL VAVGQSLPPS AITEIKLYSN MFMFRASLDL
   241  KLIFLDSRVT EVTGYEPQDL IEKTLYHHVH GCDVFHLRYA HHLLLVKGQV TTKYYRLLSK
   301  RGGWVWVQSY ATVVHNSRSS RPHCIVSVNY VLTEIEYKEL QLSLEQVSTA KSQDSWRTAL
   361  STSQETRKLV KPKNTKMKTK LRTNPYPPQQ YSSFQMDKLE CGQLGNWRAS PPASAAAPPE
   421  LQPHSESSDL LYTPSYSLPF SYHYGHFPLD SHVFSSKKPM LPAKFGQPQG SPCEVARFFL
   481  STLPASGECQ WHYANPLVPS SSSPAKNPPE PPANTARHSL VPSYEAPAAA VRRFGEDTAP
   541  PSFPSCGHYR EEPALGPAKA ARQAARDGAR LALARAAPEC CAPPTPEAPG APAQLPFVLL
   601  NYHRVLARRG PLGGAAPAAS GLACAPGGPE AATGALRLRH PSPAATSPPG APLPHYLGAS
   661  VIITNGR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SIM2 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): 0.51
Highest tissue expression: 64 nTPM

Expression across tissuesHPA

Tissue

kidney: 64 nTPM
esophagus: 29 nTPM
skeletal muscle: 10 nTPM
stomach: 9.3 nTPM
prostate: 6.2 nTPM
tonsil: 3.2 nTPM

Single-cell type

loop of henle epithelial cells: 357 nCPM
basal keratinocytes: 100 nCPM
esophageal basal cells: 89 nCPM
prostatic glandular cells: 85 nCPM
mucous neck cells: 80 nCPM
esophageal apical cells: 77 nCPM

Immune cell

basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

hypothalamus: 4.6 nTPM
thalamus: 4.4 nTPM
amygdala: 3.1 nTPM
hippocampal formation: 2.4 nTPM
midbrain: 2.3 nTPM
basal ganglia: 1.6 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SIM2.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 132 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Neurodevelopmental with craniofacial anomalies disorder

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): 0.46
gnomAD pLI: 0.2
gnomAD missense Z: 0.96
DepMap mean gene effect: 0.05
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 SIM2 as an antibody target. Whether an autoantibody or antibody against SIM2 could matter depends on whether native SIM2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SIM2 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 SIM2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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