| Name | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
| Symbol | SMARCA4 |
| Aliases | BRG1; BAF190; SNF2L4; SNF2LB; hSNF2B; SNF2-beta; SNF2-like 4; nuclear protein GRB1; brahma protein-like 1; BRM/SWI2-related gene 1; homeotic gene regulator; sucrose nonfermenting-like 4; mitotic growth and transcription activator; global transcription activator homologous sequence |
| Gene Product | - SWI/SNF-related matrix-associated actin-dependent regulator of chromatin a4
|
| Category | - Mutation in Prostate cancer
|
| UniGene | Hs.78202 |
| OMIM | 603254 |
| Locus | 6597 |
| Summary | The protein encoded by this gene is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and 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, which is required for transcriptional activation of genes normally repressed by chromatin. In addition, this protein can bind BRCA1, as well as regulate the expression of the tumorigenic protein CD44. Alternatively spliced transcripts have been found for this gene, but their full-length natures have not been determined. |
| Gene Ontology | |
| Expression | | EST (750 ESTs, 243 libraries) |
| Tissue ? |
Frequency ? |
Count ? |
| b cells (1/1) |  | 8/16734 |
| blood (5/27) | | 8/40686 |
| bone (2/13) | | 2/26211 |
| bone marrow (2/263) | | 2/38555 |
| brain (19/204) | | 71/362011 |
| cartilage (1/5) | | 1/11018 |
| cervix (2/7) | | 7/28115 |
| colon (19/853) | | 35/165626 |
| ear (1/2) | | 2/12660 |
| embryo (1/19) | | 6/37976 |
| eye (7/33) | | 46/93836 |
| foreskin (1/4) | | 3/20040 |
| germ cell (3/7) | | 6/57383 |
| head and neck (16/990) | | 41/79796 |
| heart (2/22) | | 17/55494 |
| kidney (9/86) | | 23/132968 |
| liver (2/38) | | 2/46472 |
| lung (21/312) | | 78/245386 |
| mammary gland (1/1) | | 2/2313 |
| muscle (3/21) | | 13/71297 |
| nervous (7/475) | | 8/43438 |
| oral cavity (1/18) | | 16/44567 |
| ovary (10/144) | | 30/81880 |
| pancreas (8/33) | | 17/117255 |
| parathyroid (1/4) | | 9/19377 |
| placenta (7/342) | | 26/157762 |
| prostate (6/291) |  | 10/109871 |
| skin (3/31) | | 19/100815 |
| stomach (11/312) | | 22/129930 |
| testis (6/171) | | 23/117531 |
| thymus (1/17) | | 4/5021 |
| uncharacterized tissue (53/1773) | | 166/713325 |
| uterus (9/212) | | 25/155110 |
|
| SAGE (41664174 tags, 798 libraries) |
| Tissue ? |
Frequency ? |
Count ? |
| blood (1/1) | | 11/242615 |
| brain (19/19) | | 664/10318178 |
| cerebellum (1/1) | | 26/769200 |
| colon (8/8) | | 151/3845568 |
| eye (6/6) | | 124/3508538 |
| foreskin (2/2) | | 12/77286 |
| heart (1/1) | | 15/421785 |
| kidney (2/2) | | 22/379454 |
| liver (1/1) | | 3/200583 |
| lung (1/1) | | 14/713144 |
| mammary gland (18/19) | | 138/3491753 |
| muscle (2/2) | | 51/592559 |
| ovary (9/10) | | 90/1980700 |
| pancreas (8/8) | | 84/1835174 |
| prostate (13/13) | | 130/4691951 |
| skin (7/7) | | 21/278122 |
| stomach (3/3) | | 42/1383326 |
| uncharacterized tissue (21/22) | | 217/5347811 |
| vascular (3/3) | | 62/1586427 |
|
|
| SNP | rs1801514 (C/A:exception); rs1968447 (C/T:exception); rs2288844 (G/A:exception); rs7935 (T/C:exception); rs2163800 (T/C:mrna-utr); rs1804579 (C/G:exception); rs881227 (C/T:exception); rs2421198 (C/T:exception); rs1019193 (C/T:exception); rs12012 (A/T:exception); rs2240888 (C/T:exception); rs1050237 (G/C:exception); rs2053066 (C/T:exception); rs2072382 (C/T:exception); rs1865070 (C/G:exception); rs2075021 (T/C:exception); rs1029840 (C/G:exception); rs1529727 (A/G:exception); rs2304087 (A/G:exception); |
| Evidence | Mutation in Prostate cancer
|
