SMARCD2
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2
Also known as: BAF60B, CRACD2, PRO2451, Rsc6p, SMRD2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q92925
- Gene
- SMARCD2
- Ensembl
- ENSG00000108604
- Chromosome
- 17
- Canonical length
- 531 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- 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 has sequence similarity to the yeast Swp73 protein. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
531 residues, UniProt reviewed canonical sequence.
>Q92925|SMARCD2
1 MSGRGAGGFP LPPLSPGGGA VAAALGAPPP PAGPGMLPGP ALRGPGPAGG VGGPGAAAFR
61 PMGPAGPAAQ YQRPGMSPGN RMPMAGLQVG PPAGSPFGAA APLRPGMPPT MMDPFRKRLL
121 VPQAQPPMPA QRRGLKRRKM ADKVLPQRIR ELVPESQAYM DLLAFERKLD QTIARKRMEI
181 QEAIKKPLTQ KRKLRIYISN TFSPSKAEGD SAGTAGTPGG TPAGDKVASW ELRVEGKLLD
241 DPSKQKRKFS SFFKSLVIEL DKELYGPDNH LVEWHRMPTT QETDGFQVKR PGDLNVKCTL
301 LLMLDHQPPQ YKLDPRLARL LGVHTQTRAA IMQALWLYIK HNQLQDGHER EYINCNRYFR
361 QIFSCGRLRF SEIPMKLAGL LQHPDPIVIN HVISVDPNDQ KKTACYDIDV EVDDPLKAQM
421 SNFLASTTNQ QEIASLDVKI HETIESINQL KTQRDFMLSF STDPQDFIQE WLRSQRRDLK
481 IITDVIGNPE EERRAAFYHQ PWAQEAVGRH IFAKVQQRRQ ELEQVLGIRL TLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SMARCD2 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)
- 0.49
- Highest tissue expression
- 91 nTPM
Expression across tissuesHPA
Tissue
- skin: 91 nTPM
- pancreas: 81 nTPM
- salivary gland: 69 nTPM
- esophagus: 68 nTPM
- stomach: 64 nTPM
- thymus: 63 nTPM
Single-cell type
- hepatocytes: 97 nCPM
- breast lactating cells: 80 nCPM
- monocyte progenitors: 74 nCPM
- esophageal basal cells: 73 nCPM
- lacrimal acinar cells: 73 nCPM
- cytotrophoblasts: 71 nCPM
Immune cell
- myeloid DC: 8.2 nTPM
- neutrophil: 6.9 nTPM
- classical monocyte: 6.6 nTPM
- memory CD8 T-cell: 6.2 nTPM
- gdT-cell: 6 nTPM
- non-classical monocyte: 5.7 nTPM
Brain region
- cerebellum: 38 nTPM
- white matter: 33 nTPM
- choroid plexus: 32 nTPM
- medulla oblongata: 29 nTPM
- basal ganglia: 29 nTPM
- midbrain: 27 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SMARCD2.
Disease | AllUniProt
Conditions SMARCD2 is implicated in, by any mechanism.
- Specific granule deficiency 2 (SGD2) MIM:617475
Disease | GeneticClinVar
28 pathogenic / likely-pathogenic of 419 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Specific granule deficiency 2
- Specific granule deficiency 1
- Autosomal recessive severe congenital neutropenia
- SMARCD2-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)
- 0.63
- gnomAD pLI
- 0
- gnomAD missense Z
- 2.22
- DepMap mean gene effect
- -0.2
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- chromatin remodeling
- nucleosome disassembly
- positive regulation of cell differentiation
- positive regulation of double-strand break repair
- positive regulation of myoblast differentiation
- positive regulation of T cell differentiation
- regulation of G0 to G1 transition
- regulation of G1/S transition of mitotic cell cycle
- regulation of mitotic metaphase/anaphase transition
- regulation of nucleotide-excision repair
- regulation of transcription by RNA polymerase II
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- SWIB/MDM2 domain
- SWIB domain
- SWIB/MDM2 domain superfamily
- SWIB/MDM2 domain
- SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D 2, SWIB domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SMARCD2 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 SMARCD2 as an antibody target. Whether an autoantibody or antibody against SMARCD2 could matter depends on whether native SMARCD2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SMARCD2 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 SMARCD2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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