Aliases for C5orf52 Gene
External Ids for C5orf52 Gene
- HGNC: 35121
- Entrez Gene: 100190949
- Ensembl: ENSG00000187658
- UniProtKB: A6NGY3
Previous GeneCards Identifiers for C5orf52 Gene
- GC05U901052
- GC05P157032
- GC05P157098
- GC05P152187
Summaries for C5orf52 Gene
GeneCards Summary for C5orf52 Gene
C5orf52 (Chromosome 5 Open Reading Frame 52) is a Protein Coding gene. Diseases associated with C5orf52 include Joubert Syndrome 1.
No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C5orf52 Gene
Genomics for C5orf52 Gene
Regulatory Elements for C5orf52 Gene
Enhancers for C5orf52 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around C5orf52 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the C5orf52 gene promoter:
Regulatory Element Products
Genomic Location for C5orf52 Gene
- Chromosome:
- 5
- Start:
- 157,671,237 bp from pter
- End:
- 157,680,176 bp from pter
- Size:
- 8,940 bases
- Orientation:
- Plus strand
Genomic View for C5orf52 Gene
Genes around C5orf52 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 5q33.3 by Ensembl
- 5q33.3 by Entrez Gene
- 5q33.3 by HGNC
C5orf52 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for C5orf52 Gene
Proteins for C5orf52 Gene
-
Protein details for C5orf52 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- A6NGY3-CE052_HUMAN
- Recommended name:
- Uncharacterized protein C5orf52
- Protein Accession:
- A6NGY3
Protein attributes for C5orf52 Gene
- Size:
- 159 amino acids
- Molecular mass:
- 17908 Da
- Quaternary structure:
- No Data Available
Post-translational modifications for C5orf52 Gene
Other Protein References for C5orf52 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Protein Products
-
OriGene Purified Proteins for C5orf52
- Search Origene for MassSpec and Protein Over-expression Lysates for C5orf52
- Origene Custom Protein Services for C5orf52
- Search GeneTex for Proteins for C5orf52
Assay Products
No data available for DME Specific Peptides for C5orf52 Gene
Domains & Families for C5orf52 Gene
Protein Domains for C5orf52 Gene
- ProtoNet:
Graphical View of Domain Structure for InterPro Entry
No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C5orf52 Gene
Function for C5orf52 Gene
Phenotypes for C5orf52 Gene
- MGI mutant phenotypes for C5orf52:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for C5orf52:
Animal Models for C5orf52 Gene
- MGI Knock Outs for C5orf52:
-
- 4921536K21Rik tm1a(KOMP)Wtsi
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for C5orf52
-
-
ViGene Biosciences lentiviral particle packaged cDNA for C5orf52 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for C5orf52 gene
- Search ViGene Biosciences for C5orf52
CRISPR Products
-
OriGene CRISPR knockouts for C5orf52
-
Santa Cruz Biotechnology (SCBT) CRISPR for C5orf52
- GenScript: Design CRISPR guide RNA sequences for C5orf52
miRNA for C5orf52 Gene
- miRTarBase miRNAs that target C5orf52
miRNA Products
- Search ViGene Biosciences for C5orf52
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for C5orf52
- Browse OriGene Inhibitory RNA Products For C5orf52
-
ViGene Biosciences ready-to-package AAV shRNAs for C5orf52 gene
Clone Products
-
OriGene ORF clones in human for C5orf52
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- VectorBuilder custom plasmid, inducible vectors for C5orf52
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for C5orf52
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for C5orf52
-
ViGene Biosciences adenoviral particle packaged cDNA for C5orf52 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for C5orf52 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for C5orf52 gene
Flow Cytometry Products
No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for C5orf52 Gene
Localization for C5orf52 Gene
| Compartment | Confidence |
|---|---|
| nucleus | 2 |
| extracellular | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| cytosol | 1 |
No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for C5orf52 Gene
Transcripts for C5orf52 Gene
mRNA/cDNA for C5orf52 Gene
- (3) REFSEQ mRNAs :
- (0) Additional mRNA sequences :
- -
- (1) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for C5orf52 Gene
- Chromosome 5 open reading frame 52:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for C5orf52
-
Santa Cruz Biotechnology (SCBT) CRISPR for C5orf52
- GenScript: Design CRISPR guide RNA sequences for C5orf52
miRNA Products
- Search ViGene Biosciences for C5orf52
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for C5orf52
- Browse OriGene Inhibitory RNA Products For C5orf52
-
ViGene Biosciences ready-to-package AAV shRNAs for C5orf52 gene
Clone Products
-
OriGene ORF clones in human for C5orf52
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- VectorBuilder custom plasmid, inducible vectors for C5orf52
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for C5orf52
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
Expression for C5orf52 Gene
mRNA differential expression in normal tissues according to GTEx for C5orf52 Gene
This gene is overexpressed in Testis (x48.6).
NURSA nuclear receptor signaling pathways regulating expression of C5orf52 Gene:
C5orf52SOURCE GeneReport for Unigene cluster for C5orf52 Gene:
Hs.720862Evidence on tissue expression from TISSUES for C5orf52 Gene
- Spleen(3.3)
- Intestine(2.8)
- Lung(2.7)
- Stomach(2.5)
Primer Products
-
OriGene qPCR primer pairs for C5orf52
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for C5orf52 Gene
Orthologs for C5orf52 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | C5H5orf52 34 |
|
||
| C5orf52 35 |
|
OneToOne | |||
| dog (Canis familiaris) |
Mammalia | LOC100687383 34 |
|
||
| C5orf52 35 |
|
OneToOne | |||
| cow (Bos Taurus) |
Mammalia | C17H5orf52 34 |
|
||
| C5orf52 35 |
|
OneToOne | |||
| rat (Rattus norvegicus) |
Mammalia | RGD1308775 34 |
|
||
| mouse (Mus musculus) |
Mammalia | 4921536K21Rik 34 16 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | C5orf52 35 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | C5orf52 35 |
|
OneToOne |
- Species where no ortholog for C5orf52 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- chicken (Gallus gallus)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- platypus (Ornithorhynchus anatinus)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
- zebrafish (Danio rerio)
Paralogs for C5orf52 Gene
No data available for Paralogs for C5orf52 Gene
Variants for C5orf52 Gene
| SNP ID | Clin | Chr 05 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000146346 | -- | 157,673,952(+) | TGAAC(A/G)ATTAT | intron-variant, upstream-variant-2KB | |
| rs1000272919 | -- | 157,672,241(+) | TCAGC(C/T)TCTCT | intron-variant, upstream-variant-2KB | |
| rs1000397292 | -- | 157,677,595(+) | GTTGC(A/G)ATGAG | intron-variant | |
| rs1000874291 | -- | 157,673,452(+) | AATAT(A/G)TATAT | intron-variant, upstream-variant-2KB | |
| rs1001005869 | -- | 157,679,009(+) | GGCGC(A/C)TGTAG | intron-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2730960 | CNV | deletion | 23290073 |
| esv2759389 | CNV | loss | 17122850 |
| esv3607319 | CNV | loss | 21293372 |
| esv3607320 | CNV | loss | 21293372 |
| nsv1124001 | CNV | deletion | 24896259 |
| nsv600134 | CNV | gain | 21841781 |
Gene Damage Index Score:
8.31;
85.24% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for C5orf52 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- C5orf52
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C5orf52 Gene
Disorders for C5orf52 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| joubert syndrome 1 |
|
|
Search C5orf52 in MalaCards
View complete list of genes associated with diseases
Relevant External Links for C5orf52
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- C5orf52
No data available for UniProtKB/Swiss-Prot and Genatlas for C5orf52 Gene
Publications for C5orf52 Gene
- The DNA sequence and comparative analysis of human chromosome 5. (PMID: 15372022) Schmutz J. … Rubin E.M. (Nature 2004) 3 4 64
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
Products for C5orf52 Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
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- Browse cDNA Clones
- Browse Cell Culture Products
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- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for C5orf52
- Search Origene for MassSpec and Protein Over-expression Lysates for C5orf52
- Origene Custom Protein Services for C5orf52
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for C5orf52
- Browse OriGene Inhibitory RNA Products For C5orf52
- OriGene qPCR primer pairs for C5orf52
- OriGene CRISPR knockouts for C5orf52
- OriGene ORF clones in human for C5orf52
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For C5orf52
- GenScript: Next-day shipping cDNA ORF clone for C5orf52 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for C5orf52
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- GenScript Custom overexpressing Cell Line Services for C5orf52
- GenScript: Design CRISPR guide RNA sequences for C5orf52
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
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- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
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- Browse Sino Biological cDNA Clones
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- Sino Biological Transfection Reagents
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- ViGene Biosciences adenoviral particle packaged cDNA for C5orf52 gene
- ViGene Biosciences lentiviral particle packaged cDNA for C5orf52 gene
- ViGene Biosciences ready-to-package AAV shRNAs for C5orf52 gene
- Search ViGene Biosciences for C5orf52
- Horizon Cell Lines for C5orf52
- Cyagen custom Knockout/knockin (KOKI) mouse models for C5orf52
- VectorBuilder custom plasmid, inducible vectors for C5orf52
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for C5orf52
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for C5orf52 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer