SMARCC2 - SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 Gene

Also Known as CSS8; Rsc8; BAF170; CRACC2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6601

About SMARCC2

Cytogenetic location: 12q13.2 Genomic coordinates (GRCh38): 12:56,162,359-56,189,483 (from NCBI)

This gene has 15 transcripts (splice variants), 199 orthologues, 3 paralogues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 28.0), ovary (RPKM 22.4) 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 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]

SMARCC2 Products (4)

mRNA	Protein	Name
NM_001130420.3	NP_001123892.1	SWI/SNF complex subunit SMARCC2 isoform c
NM_001330288.2	NP_001317217.1	SWI/SNF complex subunit SMARCC2 isoform d
NM_003075.5	NP_003066.2	SWI/SNF complex subunit SMARCC2 isoform a
NM_139067.4	NP_620706.1	SWI/SNF complex subunit SMARCC2 isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12192000	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in chromatin remodeling	IDA IDA: Inferred from direct assay	10078207	GOA
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	12192000	GOA
involved in nucleosome disassembly	IDA IDA: Inferred from direct assay	8895581	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	11018012	GOA

Cellular Component GO Annotation	Evidence	References	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

SMARCC2 Protein Structure

SWIRM

Myb_DNA-binding

0
200
400
600
800
1000
1214 a.a.

Protein Preferred Names	Protein Names
SWI/SNF complex subunit SMARCC2	SWI/SNF complex 170 kDa subunit

SMARCC2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SMARCC2	Q8TAQ2	SMARCD1	Homo sapiens	Q96GM5	Anti Tag CoIP	35271311
Intra	SMARCC2	Q8TAQ2	SMARCA2	Homo sapiens	P51531	Y2H Pooling	21653829
Intra	SMARCC2	Q8TAQ2	SMARCA2	Homo sapiens	P51531	Anti Tag CoIP	21653829
Intra	SMARCC2	Q8TAQ2	SMARCA2	Homo sapiens	P51531	Anti Tag CoIP	33961781
Intra	SMARCC2	Q8TAQ2	ARID1B	Homo sapiens	Q8NFD5	Anti Tag CoIP	33961781
Intra	SMARCC2	Q8TAQ2	ARID1B	Homo sapiens	Q8NFD5	Anti Tag CoIP	35271311
Intra	SMARCC2	Q8TAQ2	TERF2IP	Homo sapiens	Q9NYB0	Pull Down	21044950
Intra	SMARCC2	Q8TAQ2	TERF2IP	Homo sapiens	Q9NYB0	BiFC	21044950

Cross: Cross-species interaction Intra: Intraspecies interaction

SMARCC2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P86786	BAF170 Antibody (YA6479)	WB, IHC-P, ICC/IF, IP, ChIP	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Coffin-Siris Syndrome 8	CSS8 Coffin-Siris Syndrome, Type 8
Coffin-Siris Syndrome 1	Coffin-Siris Syndrome Fifth Digit Syndrome Css CSS1 Mrd12 Mental Retardation, Autosomal Dominant 12 Hhid Dwarfism-Onychodysplasia Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features Autosomal Dominant Mental Retardation 12 Short Stature-Onychodysplasia. Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx Mental Retardation With Hypoplastic Fifth Fingernails And Toenails Short Stature-Onychodysplasia Coffin-Siris Syndrome, Type 1 Mental Retardation, Autosomal Dominant, Type 12
Hypertrichosis
Clark-Baraitser Syndrome	CLABARS Baraitser Syndrome Autosomal Dominant Intellectual Disability 49 Mental Retardation, Autosomal Dominant 49, Formerly Mrd49, Formerly Intellectual Developmental Disorder, Autosomal Dominant 49 Autosomal Dominant Mental Retardation 49 Intellectual Disability, Tall Stature, Obesity, Macrocephaly And Typical Facial Features Mrd49 Progeria Short Stature Pigmented Nevi
Spinal Meningioma	Spinal Cord Meningioma Meningioma, Spine Meningioma Meningioma, Benign, No Icd-O Subtype
Spinal Canal And Spinal Cord Meningioma
Neurilemmomatosis	Schwannomatosis Neurofibromatosis Type 3 Nf3 Neurilemmomatosis Congenital Cutaneous Neurinomatosis Congenital Cutaneous Neurilemmomatosis Multiple Neurilemmomas Multiple Schwannomas Neurilemmomatosis, Congenital Cutaneous Schwannomatosis 1 Neurofibromatosis 3 Mixed Central And Peripheral Neurofibromatosis Nf3 - [Neurofibromatosis Type 3]
Autosomal Dominant Intellectual Developmental Disorder	Autosomal Dominant Mental Retardation Autosomal Dominant Non-Syndromic Mental Retardation Autosomal Dominant Non-Syndromic Intellectual Disability Mental Retardation, Autosomal Dominant
Kidney Rhabdoid Cancer	Rhabdoid Tumor Of The Kidney Kidney Rhabdoid Tumor Renal Rhabdoid Tumor
Rhabdoid Cancer	Rhabdoid Tumor Malignant Rhabdoid Tumor Malignant Rhabdoid Tumour Rhabdoid Sarcoma Rhabdoid Tumor Predisposition Syndrome 1 Rhabdoid Tumor Predisposition Syndrome 2 Atypical Teratoid Rhabdoid Tumor Brain Tumor, Posterior Fossa, Of Infancy, Familial Atypical Teratoid/Rhabdoid Tumor
Atypical Teratoid Rhabdoid Tumor	Rhabdoid Tumor Predisposition Syndrome Rtps Atypical Teratoid/Rhabdoid Tumor Rhabdoid Predisposition Syndrome Familial Posterior Fossa Brain Tumor Of Infancy Familial Rhabdoid Tumor At/Rt Atypical Teratoid Rhabdoid Tumour Atypical Teratoid/Rhabdoid Tumour Rhabdoid Tumor Of The Cns Rhabdoid Tumour Of The Cns Familial Posterior Fossa Brain Tumor Syndrome Hereditary Swi/Snf Deficiency Syndrome Atrt

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13411	SMARCC2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SMARCC2	MGD	MGI:1915344
Bos taurus	SMARCC2	VGNC	VGNC:34992
Rattus norvegicus	SMARCC2	RGD	RGD:1597704
Macaca mulatta	SMARCC2	VGNC	VGNC:77652
Canis familiaris	SMARCC2	VGNC	VGNC:46536
Felis catus	SMARCC2	VGNC	VGNC:65470
Others	SMARCC2	NCBI