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

Homo sapiens

Also known as CSS8; Rsc8; BAF170; CRACC2

Gene ID: 6601 | Gene type: protein coding

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12192000	GOA

Biological Process GO Annotation	Evidence	Reference	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	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

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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

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

Bioactive Molecules (1)

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

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