2,509 results for cep120

cep120

(Danio rerio)
Gene
Name: centrosomal protein 120
Synonyms: zmp:0000001308
Source: ZFIN:ZDB-GENE-140106-268
Biotype: protein coding gene
Symbol: cep120 (Dre)
Symbol: cep120
Automated Gene Synopsis: Orthologous to human CEP120 (centrosomal protein 120).
Strict Orthology Symbols: cep120

Cep120

(Mus musculus)
Gene
Name: centrosomal protein 120
Synonyms: Ccdc100, RGD1565619, coiled-coil domain containing 100, expressed sequence AU016693, AU016693
Source: MGI:2147298
Biotype: protein coding gene
Symbol: Cep120 (Mmu)
Symbol: Cep120
Automated Gene Synopsis: Orthologous to human CEP120 (centrosomal protein 120).
Strict Orthology Symbols: cep120
Alleles: Cep120 (Mmu)...Cep120 (Mmu)...Cep120 (Mmu)...Cep120 (Mmu)...Cep120 (Mmu)

CEP120

(Homo sapiens)
Gene
Name: centrosomal protein 120
Synonyms: centrosomal protein of 120 kDa, CCDC100, FLJ38327, JBTS31, coiled-coil domain containing 100, FLJ36090, centrosomal protein 120kDa, coiled-coil domain-containing protein 100, SRTD13, DKFZp686I06246
Source: HGNC:26690
Biotype: protein coding gene
Symbol: CEP120 (Hsa)
Symbol: CEP120
Strict Orthology Symbols: cep120

Cep120

(Rattus norvegicus)
Gene
Name: centrosomal protein 120
Synonyms: centrosomal protein of 120 kDa, Ccdc100, RGD1565619, coiled-coil domain containing 100, centrosomal protein 120kDa, similar to hypothetical protein FLJ36090, LOC307302
Source: RGD:1565619
Biotype: protein coding gene
Symbol: Cep120 (Rno)
Symbol: Cep120
Gene Synopsis: Orthologous to human CEP120 (centrosomal protein 120); INTERACTS WITH amphetamine; bisphenol A; methoxychlor
Automated Gene Synopsis: Orthologous to human CEP120 (centrosomal protein 120).
Strict Orthology Symbols: cep120

cep120

(Xenopus tropicalis)
Gene
Name: centrosomal protein 120kDa
Synonyms: cep120, ccdc100, centrosomal protein 120kDa
Source: Xenbase:XB-GENE-5872143
Biotype: gene
Symbol: cep120
Symbol: cep120 (Xtr)
Automated Gene Synopsis: Orthologous to human CEP120 (centrosomal protein 120).
Synonyms: cep120...cep120...cep120
Strict Orthology Symbols: cep120

cep120.L

(Xenopus laevis)
Gene
Name: centrosomal protein 120kDa
Synonyms: ccdc100, centrosomal protein 120kDa, cep120.L
Source: Xenbase:XB-GENE-5872183
Biotype: gene
Symbol: cep120.L (Xla)
Automated Gene Synopsis: Orthologous to human CEP120 (centrosomal protein 120).
Strict Orthology Symbols: cep120
Symbol: cep120.L

Allele/Variant
Source: MGI:5812923
Genes: Cep120 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Not Available
Variant Name: Not Available
Symbol: Cep120 (Mmu)
Genes: Cep120 (Mmu)
Symbol: Cep120tm1b(EUCOMM)Hmgu

Cep120tm1.2Blnw

(Mus musculus)
Allele/Variant
Source: MGI:5749514
Genes: Cep120 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Not Available
Variant Name: Not Available
Symbol: Cep120 (Mmu)
Genes: Cep120 (Mmu)
Symbol: Cep120tm1.2Blnw

Cep120tm1.1Blnw

(Mus musculus)
Allele/Variant
Source: MGI:5749512
Genes: Cep120 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Not Available
Variant Name: Not Available
Symbol: Cep120 (Mmu)
Genes: Cep120 (Mmu)
Symbol: Cep120tm1.1Blnw

Allele/Variant
Source: MGI:4841669
Genes: Cep120 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Not Available
Variant Name: Not Available
Symbol: Cep120 (Mmu)
Genes: Cep120 (Mmu)
Symbol: Cep120tm1a(EUCOMM)Hmgu

Cep120em1(IMPC)J

(Mus musculus)
Allele/Variant
Source: MGI:6389074
Genes: Cep120 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Not Available
Variant Name: Not Available
Symbol: Cep120 (Mmu)
Genes: Cep120 (Mmu)
Symbol: Cep120em1(IMPC)J

Id: MGI:5810003
Synonyms: Not Available
Symbol: Cep120/Cep120 Tg(Nes-cre)1Atp/0 [background:] involves: 129S6/SvEvTac * C57BL/
Genes: Cep120 (Mmu)
Alleles: Cep120 (Mmu)
Name: Cep120/Cep120 Tg(Nes-cre)1Atp/0 [background:] involves: 129S6/SvEvTac * C57BL/

Id: MGI:5810004
Synonyms: Not Available
Symbol: Cep120/Cep120 [background:] involves: 129S6/SvEvTac * C57BL/6 (Mmu)
Genes: Cep120 (Mmu)
Alleles: Cep120 (Mmu)
Name: Cep120/Cep120 [background:] involves: 129S6/SvEvTac * C57BL/6

Source: DOID:0080277
Definition: A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP120 gene on chromosome 5q23.
Genes: Cep120 (Rno)...Cep120 (Mmu)...cep120 (Dre)...cep120 (Xtr)...CEP120 (Hsa)

Source: DOID:0110093
Definition: An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the CEP120 gene on chromosome 5q23.
Genes: Cep120 (Rno)...Cep120 (Mmu)...cep120 (Dre)...cep120 (Xtr)...CEP120 (Hsa)

Source: GO:1903724
Synonyms:
  • activation of centriole elongation
  • up regulation of centriole elongation
Branch: biological process
Genes: cep120 (Dre)...Cep120 (Rno)...Cep120 (Mmu)...CEP120 (Hsa)

Source: GO:0022027
Synonyms: Not Available
Branch: biological process
Genes: cep120 (Dre)...Cep120 (Mmu)...CEP120 (Hsa)...Cep120 (Rno)

Source: GO:0010825
Synonyms: Not Available
Branch: biological process
Genes: Cep120 (Rno)...Cep120 (Mmu)...CEP120 (Hsa)

Source: GO:1904951
Synonyms:
  • activation of establishment of protein localisation
  • activation of establishment of protein localization
Branch: biological process
Genes: Cep120 (Mmu)...CEP120 (Hsa)...Cep120 (Rno)

Source: GO:0032886
Synonyms: Not Available
Branch: biological process
Genes: Cep120 (Mmu)...CEP120 (Hsa)...Cep120 (Rno)

WT + MO1-cep120

(Danio rerio)
Model
Id: ZFIN:ZDB-FISH-150901-16506
Synonyms: Not Available
Genes: cep120 (Dre)
Name: WT + MO1-cep120

Source: GO:0030953
Synonyms:
  • astral microtubule organisation
  • astral microtubule organization and biogenesis
Branch: biological process
Genes: Cep120 (Mmu)...CEP120 (Hsa)...Cep120 (Rno)

Source: GO:0045724
Synonyms:
  • activation of cilium assembly
  • positive regulation of flagellum assembly
Branch: biological process
Genes: Cep120 (Mmu)...CEP120 (Hsa)...Cep120 (Rno)

High-Throughput (HTP) Dataset Index metadata provided by MGI
ID: ArrayExpress:GSE249689
Tags: WT vs. mutant, genotype
Summary: Mutations that disrupt centrosome biogenesis or function cause congenital kidney developmental defects and fibrocystic pathologies. Yet, how centrosome dysfunction results in the kidney disease phenotypes remains unknown. Here, we examined the consequences of conditional knockout of the ciliopathy gene Cep120, essential for centrosome duplication, in the nephron and collecting duct progenitor niches of the mouse embryonic kidney. Cep120 loss led to reduced abundance of both cap mesenchyme and ureteric bud populations, due to a combination of delayed mitosis, increased apoptosis, and premature differentiation of progenitor cells. These defects resulted in dysplastic kidneys at birth, which rapidly formed cysts, displayed increased interstitial fibrosis, and decline in kidney function. RNA sequencing of embryonic and postnatal kidneys from Cep120-null mice identified changes in pathways essential for development, fibrosis, and cystogenesis. Our study defines the cellular and developmental defects caused by centrosome dysfunction during kidney morphogenesis, and identifies new therapeutic targets for patients with renal centrosomopathies. to identify the pathways that cause the fibrotic and cystic disease phenotypes upon Cep120 loss, Kidneys were collected from Hoxb7-Cep120 KO and WT mice at P15; also, we compared the signaling pathways that are disrupted in cystic kidneys following Cep120 loss versus ciliary signaling (Pkd1-KO), using bulk RNA-seq analysis of kidneys isolated from Hoxb7-Pkd1 KO mice at P15

Gene Ontology
Source: GO:0007098
Synonyms:
  • centrosome organisation
  • centrosome organization
Branch: biological process
Genes: Cep120 (Rno)...Cep120 (Mmu)...CEP120 (Hsa)

High-Throughput (HTP) Dataset Index metadata provided by MGI
ID: ArrayExpress:GSE249692
Tags: WT vs. mutant, genotype
Summary: Mutations that disrupt centrosome biogenesis or function cause congenital kidney developmental defects and fibrocystic pathologies. Yet, how centrosome dysfunction results in the kidney disease phenotypes remains unknown. Here, we examined the consequences of conditional knockout of the ciliopathy gene Cep120, essential for centrosome duplication, in the nephron and collecting duct progenitor niches of the mouse embryonic kidney. Cep120 loss led to reduced abundance of both cap mesenchyme and ureteric bud populations, due to a combination of delayed mitosis, increased apoptosis, and premature differentiation of progenitor cells. These defects resulted in dysplastic kidneys at birth, which rapidly formed cysts, displayed increased interstitial fibrosis, and decline in kidney function. RNA sequencing of embryonic and postnatal kidneys from Cep120-null mice identified changes in pathways essential for development, fibrosis, and cystogenesis. Our study defines the cellular and developmental defects caused by centrosome dysfunction during kidney morphogenesis, and identifies new therapeutic targets for patients with renal centrosomopathies. To identify pathways that are disrupted upon centrosome loss that result in the dysplastic kidney phenotype, we performed transcriptional profiling of centrosome-less embryonic kidneys at the onset of the observed developmental defects. Since the Hoxb7-Cre transgene co-expresses GFP in the ureteric bud lineage, we isolated UB cells from Cep120 KO kidneys and WT control at E13.5 by FACS sorting, followed by bulk RNAseq analysis

Source: GO:0021987
Synonyms:
  • corticogenesis
  • neocortex development
Branch: biological process
Genes: Cep120 (Rno)...Cep120 (Mmu)...CEP120 (Hsa)

High-Throughput (HTP) Dataset Index metadata provided by MGI
ID: ArrayExpress:GSE249693
Tags: WT vs. mutant, anatomical structure, developmental stage, genotype
Summary: Mutations that disrupt centrosome biogenesis or function cause congenital kidney developmental defects and fibrocystic pathologies. Yet, how centrosome dysfunction results in the kidney disease phenotypes remains unknown. Here, we examined the consequences of conditional knockout of the ciliopathy gene Cep120, essential for centrosome duplication, in the nephron and collecting duct progenitor niches of the mouse embryonic kidney. Cep120 loss led to reduced abundance of both cap mesenchyme and ureteric bud populations, due to a combination of delayed mitosis, increased apoptosis, and premature differentiation of progenitor cells. These defects resulted in dysplastic kidneys at birth, which rapidly formed cysts, displayed increased interstitial fibrosis, and decline in kidney function. RNA sequencing of embryonic and postnatal kidneys from Cep120-null mice identified changes in pathways essential for development, fibrosis, and cystogenesis. Our study defines the cellular and developmental defects caused by centrosome dysfunction during kidney morphogenesis, and identifies new therapeutic targets for patients with renal centrosomopathies.

Source: GO:0032880
Synonyms:
  • regulation of cellular protein localisation
  • regulation of cellular protein localization
Branch: biological process
Genes: Cep120 (Rno)...Cep120 (Mmu)...CEP120 (Hsa)

Gene Ontology
Source: GO:0022008
Synonyms:
  • nervous system cell generation
  • neural cell differentiation
Branch: biological process
Genes: Cep120 (Rno)...Cep120 (Mmu)...CEP120 (Hsa)

Gene Ontology
Source: GO:0005814
Synonyms:
  • daughter centriole
  • mother centriole
Branch: cellular component
Genes: Cep120 (Rno)...Cep120 (Mmu)...CEP120 (Hsa)

Source: GO:0000226
Synonyms:
  • microtubule cytoskeleton organisation
  • microtubule cytoskeleton organization and biogenesis
Branch: biological process
Genes: Cep120 (Rno)...Cep120 (Mmu)...CEP120 (Hsa)

Source: GO:0008283
Synonyms:
  • cell proliferation
Branch: biological process
Genes: Cep120 (Rno)...Cep120 (Mmu)...CEP120 (Hsa)

Gene Ontology
Source: GO:0005813
Synonyms: Not Available
Branch: cellular component
Genes: cep120 (Dre)...Cep120 (Mmu)...Cep120 (Rno)...CEP120 (Hsa)

Gene Ontology
Source: GO:0060271
Synonyms:
  • ciliogenesis
  • cilium biogenesis
Branch: biological process
Genes: cep120 (Dre)

sa21164

(Danio rerio)
Allele/Variant
Source: ZFIN:ZDB-ALT-140106-138
Genes: cep120 (Dre)
Synonyms: Not Available
Variant Type: point_mutation
Molecular Consequence: stop_gained
Diseases: Not Available
Variant Name: Not Available
Genes: cep120 (Dre)

Gene Ontology
Source: GO:0005856
Synonyms: Not Available
Branch: cellular component
Genes: CEP120 (Hsa)

Gene Ontology
Source: GO:0005515
Synonyms:
  • glycoprotein binding
  • protein amino acid binding
Branch: molecular function
Genes: Cep120 (Mmu)...CEP120 (Hsa)

Allele/Variant
Source: rs139462181
Genes: CEP120 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)5:123377354T>C

Allele/Variant
Source: rs63388160
Genes: CEP120 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: splice_region_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)5:123386674T>A

Allele/Variant
Source: rs138237575
Genes: CEP120 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)5:123386758T>G

Allele/Variant
Source: rs1772286533
Genes: CEP120 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, non_coding_transcript_variant, synonymous_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)5:123390018T>C

Allele/Variant
Source: rs200477463
Genes: CEP120 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)5:123377399T>C

Allele/Variant
Source: NC_000005.10:g.123377430G>A
Genes: CEP120 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, synonymous_variant
Diseases: Not Available
Variant Name: (GRCh38)5:123377430G>A

Allele/Variant
Source: NC_000005.10:g.123382170C>A
Genes: CEP120 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)5:123382170C>A

Allele/Variant
Source: rs772135307
Genes: CEP120 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, synonymous_variant
Diseases: Not Available
Variant Name: (GRCh38)5:123383079T>G

Allele/Variant
Source: NC_000005.10:g.123390077T>C
Genes: CEP120 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)5:123390077T>C

Allele/Variant
Source: rs369212214
Genes: CEP120 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)5:123383091A>G

Allele/Variant
Source: rs375645626
Genes: CEP120 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)5:123377495C>T

Allele/Variant
Source: rs138517071
Genes: CEP120 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)5:123349963T>C