SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 | Non-enzymatic BRD containing proteins | IUPHAR/BPS Guide to PHARMACOLOGY

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SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2

Target not currently curated in GtoImmuPdb

Target id: 2739

Nomenclature: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2

Family: Non-enzymatic BRD containing proteins

Annotation status:  image of a grey circle Awaiting annotation/under development. Please contact us if you can help with annotation.  » Email us

Contents:

Gene and Protein Information
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human - 1590 9p24.3 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
Mouse - 1583 19 C1 Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
Rat - 1597 1q51 Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
Previous and Unofficial Names
BAF190 | SNF2 | SNF2L2 | SNF2LA | SWI2 | SWI/SNF related
Database Links
CATH/Gene3D 2.130.10.10, 1.20.920.10
ChEMBL Target CHEMBL2362979 (Hs)
Ensembl Gene ENSG00000080503 (Hs), ENSMUSG00000024921 (Mm), ENSRNOG00000011931 (Rn)
Entrez Gene 6595 (Hs), 67155 (Mm), 361745 (Rn)
Human Protein Atlas ENSG00000080503 (Hs)
KEGG Gene hsa:6595 (Hs), mmu:67155 (Mm), rno:361745 (Rn)
OMIM 600014 (Hs)
RefSeq Nucleotide NM_003070 (Hs), NM_011416 (Mm), NM_001004446 (Rn)
RefSeq Protein NP_003061 (Hs), NP_035546 (Mm), NP_001004446 (Rn)
UniProtKB P51531 (Hs)
Wikipedia SMARCA2 (Hs)
Clinically-Relevant Mutations and Pathophysiology
Disease:  Nicolaides-Baraitser syndrome
Synonyms: Intellectual disability - sparse hair - brachydactyly [Orphanet: ORPHA3051]
OMIM: 601358
Orphanet: ORPHA3051

How to cite this page

Non-enzymatic BRD containing proteins: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2. Last modified on 13/02/2017. Accessed on 20/02/2020. IUPHAR/BPS Guide to PHARMACOLOGY, http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2739.