2. Gene
  3. CEP135 - centrosomal protein 135 Gene

CEP135 - centrosomal protein 135 Gene

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

Also known as CEP4; MCPH8; KIAA0635

Gene ID: 9662 | Gene type: protein coding

About CEP135

Cytogenetic location: 4q12 Genomic coordinates (GRCh38): 4:55,948,945-56,033,361 (from NCBI)

This gene has 5 transcripts (splice variants), 139 orthologues, 4 paralogues and is associated with 3 phenotypes. Broad expression in lymph node (RPKM 5.5), endometrium (RPKM 4.6) and 24 other tissues.

Summary

This gene encodes a centrosomal protein, which acts as a scaffolding protein during early centriole biogenesis, and is also required for centriole-centriole cohesion during interphase. Mutations in this gene are associated with autosomal recessive primary microcephaly-8. [provided by RefSeq, Jun 2012]

CEP135 Products(1)

mRNA Protein Name
NM_025009.5 NP_079285.2 centrosomal protein of 135 kDa
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables identical protein binding IDA
IDA: Inferred from direct assay
27477386 GOA
enables microtubule binding IDA
IDA: Inferred from direct assay
27477386 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
18851962 GOA
enables protein homodimerization activity IDA
IDA: Inferred from direct assay
27477386 GOA
enables tubulin binding IDA
IDA: Inferred from direct assay
27477386 GOA
Biological Process GO Annotation Evidence Reference Source
involved in centriole replication IMP
IMP: Inferred from mutant phenotype
17681131 GOA
involved in centriole-centriole cohesion IMP
IMP: Inferred from mutant phenotype
18851962 GOA
involved in positive regulation of establishment of protein localization IMP
IMP: Inferred from mutant phenotype
27185865 GOA
involved in positive regulation of non-motile cilium assembly IMP
IMP: Inferred from mutant phenotype
26545777 GOA
Cellular Component GO Annotation Evidence Reference Source
located in centriole IDA
IDA: Inferred from direct assay
17681131 GOA
located in centrosome 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 135 kDa

centrosomal protein 135kDa

Related Diseases

Diseases Alias
Microcephaly 8, Primary, Autosomal Recessive

MCPH8

Primary Autosomal Recessive Microcephaly 8
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
Microcephaly 12, Primary, Autosomal Recessive

MCPH12

Primary Autosomal Recessive Microcephaly 12

Microcephaly, Type 12, Primary, Autosomal Recessive
Microcephaly 10, Primary, Autosomal Recessive

MCPH10

Microcephalic Primordial Dwarfism Due To Znf335 Deficiency

Primary Autosomal Recessive Microcephaly 10

Microcephalic Primordial Dwarfism, Walsh Type

Microcephaly, Type 10, Primary, Autosomal Recessive
Microcephaly 16, Primary, Autosomal Recessive

MCPH16

Primary Autosomal Recessive Microcephaly 16
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities

Microcephaly 15, Primary, Autosomal Recessive

NEDMISBA

Mcph15

Primary Autosomal Recessive Microcephaly 15

Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Abnormalities
Female-Restricted Syndromic X-Linked Intellectual Disability 99

X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability

Intellectual Disability, X-Linked 99, Syndromic, Female-Restricted

Female-Restricted Syndromic X-Linked Mental Retardation 99

Mrxs99f

X-Linked Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability Syndrome Limited To Females
Microcephaly 9, Primary, Autosomal Recessive

MCPH9

Primary Autosomal Recessive Microcephaly 9

Microcephaly, Type 9, Primary, Autosomal Recessive
Microcephaly 11, Primary, Autosomal Recessive

MCPH11

Primary Autosomal Recessive Microcephaly 11

Microcephaly, Type 11, Primary, Autosomal Recessive
Microcephaly 3, Primary, Autosomal Recessive

MCPH3

Primary Autosomal Recessive Microcephaly 3

Microcephaly, Primary Autosomal Recessive, 3
Microcephaly 14, Primary, Autosomal Recessive

MCPH14

Primary Autosomal Recessive Microcephaly 14

Microcephaly, Type 14, Primary, Autosomal Recessive
Microcephaly 5, Primary, Autosomal Recessive

MCPH5

Primary Autosomal Recessive Microcephaly 5

Microcephaly Primary Autosomal Recessive 5 With Simplified Gyral Pattern

Microcephaly, Primary Autosomal Recessive, 5
Microcephaly 13, Primary, Autosomal Recessive

MCPH13

Primary Autosomal Recessive Microcephaly 13

Microcephaly, Type 13, Primary, Autosomal Recessive
Microcephaly 19, Primary, Autosomal Recessive

MCPH19

Primary Autosomal Recessive Microcephaly 19

Microcephaly, Type 19, Primary, Autosomal Recessive
Microcephaly 18, Primary, Autosomal Dominant

MCPH18

Primary Autosomal Dominant Microcephaly 18
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii

Microcephalic Osteodysplastic Primordial Dwarfism Type Ii

Majewski Osteodysplastic Primordial Dwarfism Type Ii

MOPD2

Mopd Ii

Osteodysplastic Primordial Dwarfism Type Ii

Mopdii

Osteodysplastic Primordial Dwarfism Type 2

Osteodysplastic Primordial Dwarfism, Type Ii

Pcnt-Related Microcephalic Osteodysplastic Primordial Dwarfism

Microcephalic Osteodysplastic Primordial Dwarfism Type 2

Mopd 2

Microcephalic Osteodysplastic Primordial Dwarfism With Tooth Abnormalities

Mopd Type Ii

Microcephalic Osteodysplastic Primordial Dwarfism 2

Dwarfism, Primordial, Osteodysplastic, Microcephalic Type Ii
Male Infertility Due To Acephalic Spermatozoa

Acephalic Spermatozoa Syndrome
Seckel Syndrome

Microcephalic Primordial Dwarfism

Bird-Headed Dwarfism

Harper'S Syndrome

Virchow-Seckel Dwarfism

Nanocephalic Dwarfism

Sckl

Seckel-Type Dwarfism
Isolated Growth Hormone Deficiency, Type Ia

Ighd Ia

Primordial Dwarfism

Isolated Growth Hormone Deficiency Type Ia

Sexual Ateleiotic Dwarfism

Pituitary Dwarfism I

IGHD1A

Illig-Type Growth Hormone Deficiency

Growth Hormone Deficiency, Isolated, Type Ia

Congenital Ighd Type Ia

Congenital Isolated Gh Deficiency Type Ia

Congenital Isolated Growth Hormone Deficiency Type Ia

Pituitary Dwarfism 1

Growth Hormone Deficiency, Isolated, Autosomal Recessive

Autosomal Recessive Isolated Growth Hormone Deficiency

Isolated Growth Hormone Deficiency Type 1a

Congenital Ighd

Congenital Isolated Gh Deficiency

Congenital Isolated Growth Hormone Deficiency

Growth Hormone Deficiency, Isolated Autosomal Recessive

Illig Type Growth Hormone Deficiency

Non-Acquired Isolated Growth Hormone Deficiency

Growth Hormone Deficiency, Isolated, 1a

Growth Hormone Deficiency Isolated Autosomal Recessive

Dwarfism, Primordial

Dwarfism
Spermatogenic Failure

Azoospermia

Spgf

Spermatogenic Failure, Susceptibility To

Absent Sperm

Aspermatogenesis

Infertility Due To Azoospermia

Hypospermatogenesis

Azoospermatism
Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder
Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy
Primary Ciliary Dyskinesia

Immotile Cilia Syndrome

Kartagener Syndrome

Dextrocardia Bronchiectasis And Sinusitis

Pcd

Ciliary Motility Disorders

Ciliary Motility Disorder

Immotile Ciliary Syndrome

Ciliary Dyskinesia Primary

Ics

Polynesian Bronchiectasis

Dextrocardia-Bronchiectasis-Sinusitis Syndrome

Immotile Cilia Syndrome, Kartagener Type

Primary Ciliary Dyskinesia And Situs Inversus

Primary Ciliary Dyskinesia, Kartagener Type

Siewert Syndrome

Dyskinesia, Ciliary, Primary
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-RS02501 CEP135 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus CEP135 VGNC VGNC:60768
Macaca mulatta CEP135 VGNC VGNC:71128
Mus musculus CEP135 MGD MGI:2681869
Canis familiaris CEP135 VGNC VGNC:39118
Rattus norvegicus CEP135 RGD RGD:1310726
Bos taurus CEP135 VGNC VGNC:27193