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Aliases for C5orf42 Gene

Aliases for C5orf42 Gene

  • Chromosome 5 Open Reading Frame 42 2 3
  • JBTS17 3 6
  • Transmembrane Protein ENSP00000382582 3
  • Uncharacterized Protein C5orf42 3
  • EC 3.6.1 64
  • EC 2.3.1 64
  • OFD6 3

External Ids for C5orf42 Gene

Summaries for C5orf42 Gene

Entrez Gene Summary for C5orf42 Gene

  • The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. Defects in this gene are a cause of Joubert syndrome (JBTS). [provided by RefSeq, May 2012]

GeneCards Summary for C5orf42 Gene

C5orf42 (Chromosome 5 Open Reading Frame 42) is a Protein Coding gene. Diseases associated with C5orf42 include joubert syndrome 17 and orofaciodigital syndrome vi.

Gene Wiki entry for C5orf42 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C5orf42 Gene

Genomics for C5orf42 Gene

Genomic Location for C5orf42 Gene

Start:
37,067,870 bp from pter
End:
37,249,428 bp from pter
Size:
181,559 bases
Orientation:
Minus strand

Genomic View for C5orf42 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for C5orf42 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C5orf42 Gene

Regulatory Elements for C5orf42 Gene

Proteins for C5orf42 Gene

  • Protein details for C5orf42 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H799-CE042_HUMAN
    Recommended name:
    Uncharacterized protein C5orf42
    Protein Accession:
    Q9H799
    Secondary Accessions:
    • A8MUB7
    • B7ZLV7
    • Q4G174
    • Q6DK46
    • Q8N8L4
    • Q9H5T1
    • Q9H8T9

    Protein attributes for C5orf42 Gene

    Size:
    3197 amino acids
    Molecular mass:
    361746 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH28410.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence and intronic sequence in 5.; Evidence={ECO:0000305}; Sequence=AAI44070.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAI50595.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB14513.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB14513.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential intronic sequence in 5.; Evidence={ECO:0000305}; Sequence=BAB14999.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB14999.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAB15539.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC04822.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for C5orf42 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C5orf42 Gene

Proteomics data for C5orf42 Gene at MOPED

Selected DME Specific Peptides for C5orf42 Gene

Post-translational modifications for C5orf42 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C5orf42 Gene

Domains for C5orf42 Gene

Protein Domains for C5orf42 Gene

InterPro:
ProtoNet:
genes like me logo Genes that share domains with C5orf42: view

No data available for Gene Families and UniProtKB/Swiss-Prot for C5orf42 Gene

Function for C5orf42 Gene

Enzyme Numbers (IUBMB) for C5orf42 Gene

Phenotypes for C5orf42 Gene

GenomeRNAi human phenotypes for C5orf42:
genes like me logo Genes that share phenotypes with C5orf42: view

miRNA for C5orf42 Gene

miRTarBase miRNAs that target C5orf42

No data available for Molecular function , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targeting and HOMER Transcription for C5orf42 Gene

Localization for C5orf42 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C5orf42 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for C5orf42 Gene COMPARTMENTS Subcellular localization image for C5orf42 gene
Compartment Confidence
cytosol 2
nucleus 2

Gene Ontology (GO) - Cellular Components for C5orf42 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with C5orf42: view

Pathways for C5orf42 Gene

SuperPathways for C5orf42 Gene

No Data Available

Interacting Proteins for C5orf42 Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000389014%0d%0a9606.ENSP00000376076%0d%0a9606.ENSP00000278568%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000389014 for C5orf42 Gene via STRING

Gene Ontology (GO) - Biological Process for C5orf42 Gene

None

No data available for Pathways by source for C5orf42 Gene

Transcripts for C5orf42 Gene

Unigene Clusters for C5orf42 Gene

Chromosome 5 open reading frame 42:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for C5orf42 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b · 15c ^ 16 ^ 17a · 17b · 17c ^ 18 ^
SP1: -
SP2: -
SP3:
SP4: -
SP5: - -
SP6:
SP7:
SP8:
SP9: -

ExUns: 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23 ^ 24a · 24b ^ 25 ^ 26 ^ 27
SP1:
SP2:
SP3: - -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for C5orf42 Gene

GeneLoc Exon Structure for
C5orf42
ECgene alternative splicing isoforms for
C5orf42

Expression for C5orf42 Gene

mRNA expression in normal human tissues for C5orf42 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for C5orf42 Gene

SOURCE GeneReport for Unigene cluster for C5orf42 Gene Hs.586199

genes like me logo Genes that share expressions with C5orf42: view

Orthologs for C5orf42 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C5orf42 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C5H5orf42 36
  • 99.38 (n)
  • 98.94 (a)
C5orf42 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C20H5orf42 36
  • 85.13 (n)
  • 78.44 (a)
C5orf42 37
  • 72 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C4H5orf42 36
  • 85.47 (n)
  • 78.6 (a)
C5orf42 37
  • 74 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 2410089E03Rik 36
  • 77.59 (n)
  • 68.8 (a)
2410089E03Rik 16
2410089E03Rik 37
  • 65 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C5orf42 37
  • 38 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 38 (a)
OneToMany
-- 37
  • 56 (a)
OneToMany
chicken
(Gallus gallus)
Aves C5orf42 37
  • 44 (a)
OneToOne
CZH5ORF42 36
  • 60.03 (n)
  • 49.01 (a)
lizard
(Anolis carolinensis)
Reptilia C5orf42 37
  • 39 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii C10H5orf42 37
  • 13 (a)
OneToOne
si:ch73-209l12.1 36
  • 47.45 (n)
  • 39.22 (a)
Species with no ortholog for C5orf42:
  • 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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)

Evolution for C5orf42 Gene

ENSEMBL:
Gene Tree for C5orf42 (if available)
TreeFam:
Gene Tree for C5orf42 (if available)

Paralogs for C5orf42 Gene

No data available for Paralogs for C5orf42 Gene

Variants for C5orf42 Gene

Sequence variations from dbSNP and Humsavar for C5orf42 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs159911 -- 37,082,382(+) gcaaa(C/T)ctaag intron-variant
rs172534 -- 37,068,780(+) TCATT(C/T)TGAAT intron-variant
rs300046 -- 37,081,603(+) caggt(A/G)tgagc intron-variant
rs300047 -- 37,082,444(+) aaagc(C/T)agagt intron-variant
rs300048 -- 37,083,717(+) caatc(C/T)aacaa intron-variant

Structural Variations from Database of Genomic Variants (DGV) for C5orf42 Gene

Variant ID Type Subtype PubMed ID
nsv525478 CNV Loss 19592680
nsv881511 CNV Gain 21882294
esv2674155 CNV Deletion 23128226
nsv830265 CNV Loss 17160897
nsv880406 CNV Gain 21882294
dgv6037n71 CNV Gain 21882294
esv2667122 CNV Deletion 23128226
nsv881512 CNV Gain 21882294

Relevant External Links for C5orf42 Gene

HapMap Linkage Disequilibrium report
C5orf42
Human Gene Mutation Database (HGMD)
C5orf42

Disorders for C5orf42 Gene

(1) OMIM Diseases for C5orf42 Gene (614571)

UniProtKB/Swiss-Prot

CE042_HUMAN
  • Joubert syndrome 17 (JBTS17) [MIM:614615]: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. {ECO:0000269 PubMed:22425360, ECO:0000269 PubMed:23012439}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Orofaciodigital syndrome 6 (OFD6) [MIM:277170]: A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD6 is characterized by metacarpal abnormalities with central polydactyly, cerebellar abnormalities including the molar tooth sign, tongue hamartomas, additional frenula, and upper lip notch. {ECO:0000269 PubMed:24178751}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with C5orf42: view

Publications for C5orf42 Gene

  1. Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility genes for monomelic amyotrophy. (PMID: 22264561) Lim Y.M. … Kim K.K. (Neuromuscul. Disord. 2012) 2 3 4
  2. Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. (PMID: 22425360) Srour M. … Michaud J.L. (Am. J. Hum. Genet. 2012) 3 4
  3. C5orf42 is the major gene responsible for OFD syndrome type VI. (PMID: 24178751) Lopez E. … AttiAc-Bitach T. (Hum. Genet. 2014) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. The DNA sequence and comparative analysis of human chromosome 5. (PMID: 15372022) Schmutz J. … Rubin E.M. (Nature 2004) 3 4

Products for C5orf42 Gene

Sources for C5orf42 Gene

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