2. Gene
  3. CEP112 - centrosomal protein 112 Gene

CEP112 - centrosomal protein 112 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as CCDC46; MACOCO; SPGF44

Gene ID: 201134 | Gene type: protein coding

About CEP112

Cytogenetic location: 17q24.1 Genomic coordinates (GRCh38): 17:65,635,537-66,192,133 (from NCBI)

This gene has 20 transcripts (splice variants), 185 orthologues and is associated with 1 phenotype. Broad expression in testis (RPKM 4.7), fat (RPKM 2.6) and 20 other tissues.

Summary

This gene encodes a coiled-coil domain containing protein that belongs to the cell division control protein 42 effector protein family. In neurons, it localizes to the cytoplasm of dendrites and is also enriched in the nucleus where it interacts with the RNA polymerase III transcriptional repressor Maf1 to regulate gamma-aminobutyric acid A receptor surface expression. In addition, the protein has been identified as a component of the human centrosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

CEP112 Products(6)

mRNA Protein Name
NM_001037325.3 NP_001032402.1 centrosomal protein of 112 kDa isoform b
NM_001199165.4 NP_001186094.1 centrosomal protein of 112 kDa isoform a
NM_001302891.3 NP_001289820.1 centrosomal protein of 112 kDa isoform c
NM_001353127.2 NP_001340056.1 centrosomal protein of 112 kDa isoform a
NM_001353128.2 NP_001340057.1 centrosomal protein of 112 kDa isoform c
NM_001353129.2 NP_001340058.1 centrosomal protein of 112 kDa isoform d

CEP112 Protein Structure

DUF4485

DUF4485: Domain of unknown function (DUF4485) (12 - 99)

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  • 955 a.a.
Protein Preferred Names Protein Names

centrosomal protein of 112 kDa

centrosomal protein 112kDa

Related Diseases

Diseases Alias
Spermatogenic Failure 44

SPGF44
Spermatogenic Failure 16

SPGF16

Acephalic Spermatozoa Syndrome

Spermatozoa, Acephalic
Male Infertility Due To Acephalic Spermatozoa

Acephalic Spermatozoa Syndrome
Spermatogenic Failure

Azoospermia

Spgf

Spermatogenic Failure, Susceptibility To

Absent Sperm

Aspermatogenesis

Infertility Due To Azoospermia

Hypospermatogenesis

Azoospermatism
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

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS02497 CEP112 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus CEP112 VGNC VGNC:98808
Rattus norvegicus CEP112 RGD RGD:1564168
Bos taurus CEP112 VGNC VGNC:27190
Macaca mulatta CEP112 VGNC VGNC:71124
Mus musculus CEP112 MGD MGI:1923673