Seroatlas · Human Serome Atlas

SHOC2

Leucine-rich repeat protein SHOC-2

Also known as: KIAA0862, SHOC2_HUMAN, SOC-2, SOC2, SUR-8, SUR8

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

Protein identityUniProt · HPA

UniProt accession: Q9UQ13
Gene: SHOC2
Ensembl: ENSG00000108061
Chromosome: 10
Canonical length: 582 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, RAS pathway related proteins
Subcellular location: Nucleoplasm,Cytosol

OverviewNCBI Gene

This gene encodes a protein that consists almost entirely of leucine-rich repeats, a domain implicated in protein-protein interactions. The protein may function as a scaffold linking RAS to downstream signal transducers in the RAS/ERK MAP kinase signaling cascade. Mutations in this gene have been associated with Noonan-like syndrome with loose anagen hair. [provided by RefSeq, May 2010]

Canonical amino-acid sequenceUniProt

582 residues, UniProt reviewed canonical sequence.

>Q9UQ13|SHOC2
     1  MSSSLGKEKD SKEKDPKVPS AKEREKEAKA SGGFGKESKE KEPKTKGKDA KDGKKDSSAA
    61  QPGVAFSVDN TIKRPNPAPG TRKKSSNAEV IKELNKCREE NSMRLDLSKR SIHILPSSIK
   121  ELTQLTELYL YSNKLQSLPA EVGCLVNLMT LALSENSLTS LPDSLDNLKK LRMLDLRHNK
   181  LREIPSVVYR LDSLTTLYLR FNRITTVEKD IKNLSKLSML SIRENKIKQL PAEIGELCNL
   241  ITLDVAHNQL EHLPKEIGNC TQITNLDLQH NELLDLPDTI GNLSSLSRLG LRYNRLSAIP
   301  RSLAKCSALE ELNLENNNIS TLPESLLSSL VKLNSLTLAR NCFQLYPVGG PSQFSTIYSL
   361  NMEHNRINKI PFGIFSRAKV LSKLNMKDNQ LTSLPLDFGT WTSMVELNLA TNQLTKIPED
   421  VSGLVSLEVL ILSNNLLKKL PHGLGNLRKL RELDLEENKL ESLPNEIAYL KDLQKLVLTN
   481  NQLTTLPRGI GHLTNLTHLG LGENLLTHLP EEIGTLENLE ELYLNDNPNL HSLPFELALC
   541  SKLSIMSIEN CPLSHLPPQI VAGGPSFIIQ FLKMQGPYRA MV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SHOC2 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: 41 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 41 nTPM
testis: 34 nTPM
tonsil: 29 nTPM
parathyroid gland: 28 nTPM
lymph node: 27 nTPM
tongue: 25 nTPM

Single-cell type

neutrophils: 1,193 nCPM
neutrophil progenitors: 550 nCPM
pituicytes/fscs: 306 nCPM
sertoli cells: 263 nCPM
monocyte progenitors: 224 nCPM
monocytes: 214 nCPM

Immune cell

neutrophil: 71 nTPM
basophil: 55 nTPM
eosinophil: 34 nTPM
memory B-cell: 31 nTPM
non-classical monocyte: 29 nTPM
intermediate monocyte: 28 nTPM

Brain region

hypothalamus: 44 nTPM
pons: 44 nTPM
midbrain: 43 nTPM
cerebral cortex: 38 nTPM
cerebellum: 37 nTPM
basal ganglia: 35 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SHOC2.

Disease | AllUniProt

Conditions SHOC2 is implicated in, by any mechanism.

Noonan syndrome-like disorder with loose anagen hair 1 (NSLH1) MIM:607721

Disease | GeneticClinVar

6 pathogenic / likely-pathogenic of 715 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Noonan syndrome-like disorder with loose anagen hair 1
RASopathy
Noonan syndrome
Cardiovascular phenotype
Noonan syndrome-like disorder with loose anagen hair

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): 0.14
gnomAD pLI: 1
gnomAD missense Z: 2.97
DepMap mean gene effect: -0.28
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% 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

InteractionsUniProt · HPA

Protein binding partners of SHOC2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SHOC2 as an antibody target. Whether an autoantibody or antibody against SHOC2 could matter depends on whether native SHOC2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SHOC2 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 SHOC2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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