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  2. ANKRD12 - ankyrin repeat domain 12 Gene

ANKRD12 - ankyrin repeat domain 12 Gene

中文名称:锚蛋白重复结构域 12

种属: Homo sapiens

同用名: ANCO1; GAC-1; ANCO-2; Nbla00144

基因 ID: 23253 | 基因类型: protein coding

关于 ANKRD12

Cytogenetic location: 18p11.22 Genomic coordinates (GRCh38): 18:9,136,781-9,285,985 (from NCBI)

This gene has 9 transcripts (splice variants) and 222 orthologues. Ubiquitous expression in lymph node (RPKM 9.0), appendix (RPKM 8.8) and 25 other tissues.

功能概要

该基因编码含有锚蛋白重复序列的辅助因子家族的成员。这些蛋白质可能通过募集组蛋白脱乙酰酶抑制核受体的转录活性。编码的蛋白质与 p160 辅激活因子相互作用,还抑制由辅激活因子改变/激活缺陷 3 (ADA3) 介导的转录。已经观察到该基因编码多种亚型的可变剪接转录物变体。[RefSeq 提供,2011 年 2 月]

This gene encodes a member of the ankyrin repeats-containing cofactor family. These proteins may inhibit the transcriptional activity of nuclear receptors through the recruitment of histone deacetylases. The encoded protein interacts with p160 coactivators and also represses transcription mediated by the coactivator alteration/deficiency in activation 3 (ADA3). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]

ANKRD12 基因产物(3)

mRNA Protein Name
NM_001083625.3 NP_001077094.1 ankyrin repeat domain-containing protein 12 isoform 2
NM_001204056.1 NP_001190985.1 ankyrin repeat domain-containing protein 12 isoform 2
NM_015208.5 NP_056023.3 ankyrin repeat domain-containing protein 12 isoform 1

ANKRD12 蛋白结构

Ank_2

Ank_2: Ankyrin repeats (3 copies) (177 - 247)

Ank

Ank: Ankyrin repeat (250 - 281)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2062 a.a.
蛋白主名 其他名称

ankyrin repeat domain-containing protein 12

ankyrin repeat-containing cofactor 2

关联疾病

疾病名称 别名
Mitochondrial Complex I Deficiency, Nuclear Type 1

Mitochondrial Complex I Deficiency

Nadh:Q(1) Oxidoreductase Deficiency

MC1DN1

Nadh-Coenzyme Q Reductase Deficiency

Isolated Mitochondrial Respiratory Chain Complex I Deficiency

Isolated Nadh-Coenzyme Q Reductase Deficiency

Isolated Nadh-Coq Reductase Deficiency

Isolated Nadh-Ubiquinone Reductase Deficiency

Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of

Nuclear Type Mitochondrial Complex I Deficiency 1

Isolated Complex I Deficiency

Complex 1 Mitochondrial Respiratory Chain Deficiency

Nadh Coenzyme Q Reductase Deficiency

Complex I Mitochondrial Respiratory Chain Deficiency

Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I

Nadh:Ubiquinone Oxidoreductase Deficiency

Complex I, Mitochondrial Respiratory Chain, Deficiency Of

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Bos taurus ANKRD12 VGNC VGNC:25911
Mus musculus ANKRD12 MGD MGI:1914357
Macaca mulatta ANKRD12 VGNC VGNC:104214
Felis catus ANKRD12 VGNC VGNC:107694
Canis familiaris ANKRD12 VGNC VGNC:37883
Rattus norvegicus ANKRD12 RGD RGD:1310118