SMARCD2 - SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 Gene

Homo sapiens

Also known as SGD2; Rsc6p; BAF60B; CRACD2; PRO2451

Gene ID: 6603 | Gene type: protein coding

About SMARCD2

Cytogenetic location: 17q23.3 Genomic coordinates (GRCh38): 17:63,832,081-63,842,685 (from NCBI)

This gene has 28 transcripts (splice variants), 220 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in skin (RPKM 24.5), esophagus (RPKM 18.0) and 25 other tissues.

Summary

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]

SMARCD2 Products(3)

mRNA	Protein	Name
NM_001098426.2	NP_001091896.1	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2 isoform 1
NM_001330439.1	NP_001317368.1	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2 isoform 2
NM_001330440.2	NP_001317369.1	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2 isoform 3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	20148946	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in chromatin remodeling	IDA IDA: Inferred from direct assay	11726552	GOA
involved in nucleosome disassembly	IDA IDA: Inferred from direct assay	8895581	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of SWI/SNF complex	IDA IDA: Inferred from direct assay	8804307	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SMARCD2 Protein Structure

SWIB

0
100
200
300
400
500
531 a.a.

Protein Preferred Names

Protein Names

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2

60 kDa BRG-1/Brm-associated factor subunit B

SMARCD2 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	SMARCD2	Q92925	ARID1A	Homo sapiens	O14497	Anti Tag CoIP	35271311
Intra	SMARCD2	Q92925	ARID1A	Homo sapiens	O14497	Crosslink	30021884
Intra	SMARCD2	Q92925	UNKL	Homo sapiens	Q9H9P5	Y2H	20148946

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Specific Granule Deficiency 2

SGD2

Specific Granule Deficiency 1

Specific Granule Deficiency	Neutrophil-Specific Granule Deficiency
SGD1	Lactoferrin-Deficient Neutrophils
Neutrophil Lactoferrin Deficiency	Recurrent Infection Due To Specific Granule Deficiency
Neutrophil Secondary Granule Deficiency

Autosomal Recessive Severe Congenital Neutropenia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13413	SMARCD2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	SMARCD2	VGNC	VGNC:34994
Canis familiaris	SMARCD2	VGNC	VGNC:46538
Rattus norvegicus	SMARCD2	RGD	RGD:69289
Macaca mulatta	SMARCD2	VGNC	VGNC:77654
Mus musculus	SMARCD2	MGD	MGI:1933621
Felis catus	SMARCD2	VGNC	VGNC:65472

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