ANKRD12 - ankyrin repeat domain 12 Gene

Also Known as ANCO1; GAC-1; ANCO-2; Nbla00144

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23253

About 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.

Summary

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 Products (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 Protein Structure

Ank_2

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

Ank

Ank: Ankyrin repeat (250 - 281)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2062 a.a.
Protein Preferred Names Protein Names

ankyrin repeat domain-containing protein 12

  • ankyrin repeat-containing cofactor 2

Related Diseases

Diseases Alias
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

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

Species Symbol Source 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
Others ANKRD12 NCBI