CEP128 - centrosomal protein 128 Gene

Also Known as C14orf61; LEDP/132; C14orf145

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 145508

About CEP128

This gene has 16 transcripts (splice variants) and 186 orthologues. Low expression observed in reference dataset.

Summary

Involved in protein localization. Located in centriole and spindle pole. Part of centriolar subdistal appendage. [provided by Alliance of Genome Resources, Apr 2022]

CEP128 Products (1)

mRNA Protein Name
NM_152446.5 NP_689659.2 centrosomal protein of 128 kDa

Gene Ontology

  • Biological Process
  • Cellular Component
Biological Process GO Annotation Evidence 参考文献 由来
involved in protein localization IMP
IMP: Inferred from mutant phenotype
23213374 GOA
Cellular Component GO Annotation Evidence 参考文献 由来
part of centriolar subdistal appendage IDA
IDA: Inferred from direct assay
23213374 GOA
located in centriole IDA
IDA: Inferred from direct assay
21399614 GOA
located in spindle pole IDA
IDA: Inferred from direct assay
21399614 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

centrosomal protein of 128 kDa

  • centrosomal protein 128kDa

関連疾患

Diseases Alias
Familial Hyperthyroidism Due To Mutations In Tsh Receptor

  • Familial Non-Immune Hyperthyroidism

  • Resistance To Thyroid Stimulating Hormone

  • Nonautoimmune Hyperthyroidism

  • Hyperthyroidism, Nonautoimmune
Hypothyroidism, Congenital, Nongoitrous, 1

  • Tsh Resistance

  • CHNG1

  • Hypothyroidism Due To Tsh Receptor Mutations

  • Thyrotropin Resistance

  • Thyroid-Stimulating Hormone

  • Rtsh

  • Hypothyroidism Due To Unresponsiveness To Thyrotropin

  • Congenital Nongoitrous Hypothyroidism 1

  • Thyroid-Stimulating Hormone, Resistance To

  • Hypothyroidism, Nonautoimmune

  • Hypothyroidism, Congenital, Due To Tsh Resistance

  • Hypothyroidism, Congenital, Non-Goitrous, 1

  • Congenital Hypothyroidism Due To Tsh Resistance

  • Non-Autoimmune Hypothyroidism

  • Thyroid-Stimulating Hormone Resistance

  • Hypothyroidism, Congenital, Nongoitrous, Type 1

  • Hypothyroidism, Congenital, Nongoitrous, 3

  • Thyroid Hormone Resistance Syndrome
Hyperthyroidism, Nonautoimmune

  • Hyperthyroidism, Congenital Nonautoimmune

  • Hyperthyroidism, Nonautoimmune, Autosomal Dominant

  • Toxic Thyroid Hyperplasia, Autosomal Dominant

  • Nonautoimmune Hyperthyroidism

  • Congenital Nonautoimmune Hyperthyroidism

  • Hyperthyroidism, Non-Autoimmune

  • HTNA

  • Familial Hyperthyroidism Due To Mutations In Tsh Receptor

  • Familial Non-Immune Hyperthyroidism

  • Hyperthyroidism Congenital Non-Autoimmune

  • Hyperthyroidism Non-Autoimmune Autosomal Dominant

  • Resistance To Thyroid Stimulating Hormone

  • Toxic Thyroid Hyperplasia Autosomal Dominant
Epilepsy

  • Epilepsy Syndrome

  • Epileptic Syndrome

  • Epilepsies

  • Symptomatic Epilepsies

  • Post Traumatic Epilepsy

  • Traumatic Epilepsy

  • Traumatic Epileptic

  • Epilepsy Due To Hippocampal Sclerosis

  • Epilepsy With Ammon'S Horn Sclerosis

  • Epilepsy Due To Cortical Dysplasia

  • Epilepsy Due To Neuronal Migration Disorders
Seckel Syndrome 7

  • SCKL7

  • Microcephalic Primordial Dwarfism, Dauber Type

  • Seckel Syndrome, Type 7
Orofaciodigital Syndrome Ix

  • OFD9

  • Orofaciodigital Syndrome With Retinal Abnormalities

  • Oral-Facial-Digital Syndrome With Retinal Abnormalities

  • Orofaciodigital Syndrome 9

  • Oral-Facial-Digital Syndrome Type 9

  • Ofds Ix

  • Oral-Facial-Digital Syndrome, Type Ix

  • Ofd Syndrome 9

  • Ofds 9

  • Oral Facial Digital Syndrome 9

  • Oral Facial Digital Syndrome Type 9

  • Orofaciodigital Syndrome Type 9

  • Orofaciodigital Syndrome, Type Ix
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

Pre-clinical Phase

Bioactive Molecules (1)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-RS02499 CEP128 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

生物種 Symbol 由来 ID
Felis catus CEP128 VGNC VGNC:60766
Canis familiaris CEP128 VGNC VGNC:39117
Rattus norvegicus CEP128 RGD RGD:1595693
Mus musculus CEP128 MGD MGI:1922466
Macaca mulatta CEP128 VGNC VGNC:71062
Bos taurus CEP128 VGNC VGNC:53080
Others CEP128 NCBI