2. Gene
  3. CEP295 - centrosomal protein 295 Gene

CEP295 - centrosomal protein 295 Gene

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

Also known as KIAA1731

Gene ID: 85459 | Gene type: protein coding

About CEP295

Cytogenetic location: 11q21 Genomic coordinates (GRCh38): 11:93,661,682-93,730,358 (from NCBI)

This gene has 7 transcripts (splice variants), 151 orthologues and 3 paralogues. Ubiquitous expression in testis (RPKM 2.8), lymph node (RPKM 2.0) and 25 other tissues.

Summary

Enables microtubule binding activity. Involved in several processes, including centriole replication; positive regulation of protein acetylation; and regulation of centrosome duplication. Located in cytosol; microtubule cytoskeleton; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

CEP295 Products(1)

mRNA Protein Name
NM_033395.2 NP_203753.1 centrosomal protein of 295 kDa

CEP295 Protein Structure

ALMS_motif

ALMS_motif: ALMS motif (2476 - 2599)

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  • 2601 a.a.
Protein Preferred Names Protein Names

centrosomal protein of 295 kDa

centriolar protein CEP295

Related Diseases

Diseases Alias
Primary Autosomal Recessive Microcephaly

Autosomal Recessive Primary Microcephaly

Mcph

True Microcephaly

Microcephalia Vera

Microcephaly Vera

Microcephaly Primary Hereditary

Microcephaly, Primary, Autosomal Recessive

Primary Microcephaly
Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder
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-RS02512 CEP295 Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus CEP295 VGNC VGNC:27202
Rattus norvegicus CEP295 RGD RGD:1311723
Felis catus CEP295 VGNC VGNC:60772
Mus musculus CEP295 MGD MGI:2442521
Canis familiaris CEP295 VGNC VGNC:39126
Macaca mulatta CEP295 VGNC VGNC:71135