BRD8 - bromodomain containing 8 Gene

Also Known as SMAP; p120; SMAP2

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 10902

About BRD8

Cytogenetic location: 5q31.2 Genomic coordinates (GRCh38): 5:138,139,770-138,178,630 (from NCBI)

This gene has 26 transcripts (splice variants) and 291 orthologues. Broad expression in testis (RPKM 45.3), brain (RPKM 10.9) and 23 other tissues.

Summary

The protein encoded by this gene interacts with Thyroid Hormone Receptor in a ligand-dependent manner and enhances thyroid hormone-dependent activation from thyroid response elements. This protein contains a bromodomain and is thought to be a nuclear receptor coactivator. Multiple alternatively spliced transcript variants that encode distinct isoforms have been identified. [provided by RefSeq, Jul 2014]

BRD8 Products (6)

mRNA Protein Name
NM_001164326.2 NP_001157798.1 bromodomain-containing protein 8 isoform 4
NM_001300961.3 NP_001287890.1 bromodomain-containing protein 8 isoform 5
NM_001300962.3 NP_001287891.1 bromodomain-containing protein 8 isoform 6
NM_001300966.3 NP_001287895.1 bromodomain-containing protein 8 isoform 7
NM_006696.5 NP_006687.3 bromodomain-containing protein 8 isoform 1
NM_139199.2 NP_631938.2 bromodomain-containing protein 8 isoform 2
Molecular Function GO Annotation Evidence 参考文献 由来
enables nuclear receptor coactivator activity IDA
IDA: Inferred from direct assay
9368056 GOA
enables nuclear thyroid hormone receptor binding IPI
IPI: Inferred from physical interaction
9368056 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
Biological Process GO Annotation Evidence 参考文献 由来
involved in cellular response to thyroid hormone stimulus IDA
IDA: Inferred from direct assay
9368056 GOA
involved in positive regulation of double-strand break repair via homologous recombination IDA
IDA: Inferred from direct assay
27153538 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
9368056 GOA
involved in regulation of cell cycle IMP
IMP: Inferred from mutant phenotype
27153538 GOA
Cellular Component GO Annotation Evidence 参考文献 由来
part of NuA4 histone acetyltransferase complex IDA
IDA: Inferred from direct assay
14966270 GOA
part of Swr1 complex IDA
IDA: Inferred from direct assay
24463511 GOA
part of nucleosome IDA
IDA: Inferred from direct assay
27153538 GOA
located in nucleus IDA
IDA: Inferred from direct assay
25593309 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

BRD8 Protein Structure

Bromodomain

Bromodomain: Bromodomain (725 - 798)

Bromodomain

Bromodomain: Bromodomain (1114 - 1194)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1235 a.a.
Protein Preferred Names Protein Names

bromodomain-containing protein 8

  • skeletal muscle abundant protein 2

関連疾患

Diseases Alias
Ossifying Fibromyxoid Tumor
  • Ossifying Fibromyxoid Tumour

  • Ossifying Fibromyxoma

Endometrial Stromal Tumor
  • Endometrial Stromal Neoplasm

  • Endometrial Stromal Tumors

Ovarian Sex-Cord Stromal Tumor
  • Ovarian Sex Cord Tumor With Annular Tubules

  • Ovarian Sex Cord-Stromal Tumor

  • Stromal Tumor Of Ovary

Endometrial Stromal Sarcoma
  • Ess

  • Endometrial Stromal Sarcoma, High Grade

  • Undifferentiated Endometrial Sarcoma

  • Stromal Sarcoma Of The Corpus Uteri

  • Sarcoma Endometrial Stromal

  • Sarcoma, Endometrial Stromal

  • Undifferentiated Stromal Sarcoma

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

Orthologs Information

生物種 Symbol 由来 ID
Macaca mulatta BRD8 VGNC VGNC:70350
Mus musculus BRD8 MGD MGI:1925906
Felis catus BRD8 VGNC VGNC:60170
Rattus norvegicus BRD8 RGD RGD:1307003
Others BRD8 NCBI