1. Gene
  2. CEP76 - centrosomal protein 76 Gene

CEP76 - centrosomal protein 76 Gene

Homo sapiens

Also known as C18orf9; HsT1705

Gene ID: 79959 | Gene type: protein coding

About CEP76

This gene has 12 transcripts (splice variants), 207 orthologues and 2 paralogues. Broad expression in testis (RPKM 7.3), esophagus (RPKM 1.7) and 23 other tissues.

Summary

This gene encodes a centrosomal protein which regulates centriole amplification by limiting centriole duplication to once per cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

CEP76 Products(2)

mRNA Protein Name
NM_001271989.2 NP_001258918.1 centrosomal protein of 76 kDa isoform b
NM_024899.4 NP_079175.2 centrosomal protein of 76 kDa isoform a

CEP76 Protein Structure

CEP76-C2

CEP76-C2: CEP76 C2 domain (99 - 259)

  • 0
  • 200
  • 400
  • 600
  • 659 a.a.
Protein Preferred Names Protein Names

centrosomal protein of 76 kDa

centrosomal protein 76kDa

Related Diseases

Diseases Alias
Jawad Syndrome

JWDS

Kelly Syndrome

Microcephaly With Mental Retardation And Digital Anomalies

Kelly

Microcephaly-Digital Anomalies Syndrome

Plummer-Vinson Syndrome

Neu-Laxova Syndrome 2

NLS2

Nail Disorder, Nonsyndromic Congenital, 4

Anonychia Congenita

Anonychia

Hyponychia Congenita

NDNC4

Anonychia/Hyponychia Congenita

Nonsyndromic Congenital Nail Disorder 4

Isolated Congenital Anonychia

Anonychia Congenita Totalis

Anonychia Totalis

Autosomal Recessive Nonsyndromic Congenital Nail Disorder-4

Congenital Anonychia

Nonsyndromic Congenital Nail Disorder, 4

Absent Nails

Aplastic Nails

Congenital Absence Of Nails

Isolated Anonychia

Nail Disorder, Non-Syndromic Congenital, 4

Nail Disorder, Nonsyndromic, Congenital, Type 4

Nonsyndromic Congenital Nail Disorder

Nail Disorder, Nonsyndromic Congenital

Nephronophthisis 14

Joubert Syndrome 19

NPHP14

JBTS19

Nephronophthisis, Type 14

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

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 CEP76 VGNC VGNC:27213
Rattus norvegicus CEP76 RGD RGD:1305183
Canis familiaris CEP76 VGNC VGNC:39137
Felis catus CEP76 VGNC VGNC:60783
Macaca mulatta CEP76 VGNC VGNC:104217
Mus musculus CEP76 MGD MGI:1923401