Seroatlas · Human Serome Atlas

SMARCC2

SWI/SNF complex subunit SMARCC2

Also known as: BAF170, CRACC2, Rsc8, SMRC2_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q8TAQ2
Gene: SMARCC2
Ensembl: ENSG00000139613
Chromosome: 12
Canonical length: 1214 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
Subcellular location: Nucleoplasm

OverviewNCBI Gene

The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and contains a predicted leucine zipper motif typical of many transcription factors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1214 residues, UniProt reviewed canonical sequence.

>Q8TAQ2|SMARCC2
     1  MAVRKKDGGP NVKYYEAADT VTQFDNVRLW LGKNYKKYIQ AEPPTNKSLS SLVVQLLQFQ
    61  EEVFGKHVSN APLTKLPIKC FLDFKAGGSL CHILAAAYKF KSDQGWRRYD FQNPSRMDRN
   121  VEMFMTIEKS LVQNNCLSRP NIFLCPEIEP KLLGKLKDII KRHQGTVTED KNNASHVVYP
   181  VPGNLEEEEW VRPVMKRDKQ VLLHWGYYPD SYDTWIPASE IEASVEDAPT PEKPRKVHAK
   241  WILDTDTFNE WMNEEDYEVN DDKNPVSRRK KISAKTLTDE VNSPDSDRRD KKGGNYKKRK
   301  RSPSPSPTPE AKKKNAKKGP STPYTKSKRG HREEEQEDLT KDMDEPSPVP NVEEVTLPKT
   361  VNTKKDSESA PVKGGTMTDL DEQEDESMET TGKDEDENST GNKGEQTKNP DLHEDNVTEQ
   421  THHIIIPSYA AWFDYNSVHA IERRALPEFF NGKNKSKTPE IYLAYRNFMI DTYRLNPQEY
   481  LTSTACRRNL AGDVCAIMRV HAFLEQWGLI NYQVDAESRP TPMGPPPTSH FHVLADTPSG
   541  LVPLQPKTPQ QTSASQQMLN FPDKGKEKPT DMQNFGLRTD MYTKKNVPSK SKAAASATRE
   601  WTEQETLLLL EALEMYKDDW NKVSEHVGSR TQDECILHFL RLPIEDPYLE DSEASLGPLA
   661  YQPIPFSQSG NPVMSTVAFL ASVVDPRVAS AAAKSALEEF SKMKEEVPTA LVEAHVRKVE
   721  EAAKVTGKAD PAFGLESSGI AGTTSDEPER IEESGNDEAR VEGQATDEKK EPKEPREGGG
   781  AIEEEAKEKT SEAPKKDEEK GKEGDSEKES EKSDGDPIVD PEKEKEPKEG QEEVLKEVVE
   841  SEGERKTKVE RDIGEGNLST AAAAALAAAA VKAKHLAAVE ERKIKSLVAL LVETQMKKLE
   901  IKLRHFEELE TIMDREREAL EYQRQQLLAD RQAFHMEQLK YAEMRARQQH FQQMHQQQQQ
   961  PPPALPPGSQ PIPPTGAAGP PAVHGLAVAP ASVVPAPAGS GAPPGSLGPS EQIGQAGSTA
  1021  GPQQQQPAGA PQPGAVPPGV PPPGPHGPSP FPNQQTPPSM MPGAVPGSGH PGVAGNAPLG
  1081  LPFGMPPPPP PPAPSIIPFG SLADSISINL PAPPNLHGHH HHLPFAPGTL PPPNLPVSMA
  1141  NPLHPNLPAT TTMPSSLPLG PGLGSAAAQS PAIVAAVQGN LLPSASPLPD PGTPLPPDPT
  1201  APSPGTVTPV PPPQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SMARCC2 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): 0.53
Highest tissue expression: 69 nTPM

Expression across tissuesHPA

Tissue

cerebellum: 69 nTPM
cerebral cortex: 55 nTPM
ovary: 54 nTPM
thyroid gland: 51 nTPM
amygdala: 47 nTPM
basal ganglia: 47 nTPM

Single-cell type

podocytes: 65 nCPM
distal convoluted tubule cells: 62 nCPM
papillary tip epithelial cells: 59 nCPM
renal connecting tubule cells: 58 nCPM
renal collecting duct principal cells: 58 nCPM
renal collecting duct intercalated cells: 58 nCPM

Immune cell

eosinophil: 21 nTPM
basophil: 16 nTPM
non-classical monocyte: 14 nTPM
MAIT T-cell: 12 nTPM
total PBMC: 12 nTPM
gdT-cell: 11 nTPM

Brain region

cerebral cortex: 127 nTPM
basal ganglia: 115 nTPM
hypothalamus: 113 nTPM
thalamus: 113 nTPM
white matter: 112 nTPM
cerebellum: 108 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SMARCC2.

Disease | AllUniProt

Conditions SMARCC2 is implicated in, by any mechanism.

Coffin-Siris syndrome 8 (CSS8) MIM:618362

Disease | GeneticClinVar

57 pathogenic / likely-pathogenic of 472 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Coffin-Siris syndrome 8
Inborn genetic diseases
SMARCC2-related BAFopathy
Neurodevelopmental disorder
SMARCC2-related 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): 0.12
gnomAD pLI: 1
gnomAD missense Z: 3.91
DepMap mean gene effect: -0.25
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% 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 SMARCC2 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 SMARCC2 as an antibody target. Whether an autoantibody or antibody against SMARCC2 could matter depends on whether native SMARCC2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SMARCC2 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 SMARCC2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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