1. Gene
  2. CEP192 - centrosomal protein 192 Gene

CEP192 - centrosomal protein 192 Gene

Homo sapiens

Also known as PPP1R62

Gene ID: 55125 | Gene type: protein coding

About CEP192

Cytogenetic location: 18p11.21 Genomic coordinates (GRCh38): 18:12,991,362-13,125,036 (from NCBI)

This gene has 14 transcripts (splice variants) and 221 orthologues. Ubiquitous expression in testis (RPKM 8.2), gall bladder (RPKM 6.1) and 25 other tissues.

Summary

Enables Phosphatase binding activity. Involved in centrosome-templated microtubule nucleation; mitotic spindle assembly; and protein localization to centrosome. Located in centriole; centrosome; and cytosol. [provided by Alliance of Genome Resources, Apr 2022]

CEP192 Products(1)

mRNA Protein Name
NM_032142.4 NP_115518.3 centrosomal protein of 192 kDa
Protein Preferred Names Protein Names

centrosomal protein of 192 kDa

192 kDa centrosomal protein

Related Diseases

Diseases Alias
Autosomal Dominant Intellectual Developmental Disorder 40

Autosomal Dominant Non-Syndromic Intellectual Disability 40

Autosomal Dominant Mental Retardation 40

Mrd40

Mental Retardation, Autosomal Dominant 40

Alstrom Syndrome

ALMS

Alström Syndrome

Alss

Alstrom-Hallgren Syndrome

Alstroem Syndrome

Ovarian Endometrioid Stromal Sarcoma
Ovary Sarcoma

Sarcoma Of Ovary

Mulibrey Nanism

MUL

Muscle-Liver-Brain-Eye Nanism

Pericardial Constriction And Growth Failure

Perheentupa Syndrome

Mulibrey Growth Disorder

Mulibrey Nanism Syndrome

Pericardial Constriction With Growth Failure

Nanism Mulibrey

Primary Autosomal Recessive Microcephaly

Autosomal Recessive Primary Microcephaly

Mcph

True Microcephaly

Microcephalia Vera

Microcephaly Vera

Microcephaly Primary Hereditary

Microcephaly, Primary, Autosomal Recessive

Primary Microcephaly

Primary Microcephaly

True Microcephaly

Microcephaly, Primary

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

Orthologs Information

Species Symbol Source ID
Rattus norvegicus CEP192 RGD RGD:1562797
Bos taurus CEP192 VGNC VGNC:27199
Felis catus CEP192 VGNC VGNC:82467
Mus musculus CEP192 MGD MGI:1918049
Canis familiaris CEP192 VGNC VGNC:58297