Aliases for C6orf62 Gene

Aliases for C6orf62 Gene

  • Chromosome 6 Open Reading Frame 62 2 3 5
  • XTP12 2 3 4
  • HBV X-Transactivated Gene 12 Protein 3 4
  • HBV XAg-Transactivated Protein 12 3 4
  • HBV X-Transactivated Protein 12 2 3
  • Uncharacterized Protein C6orf62 3 4
  • DKFZP564G182 2
  • Nbla00237 3
  • DJ30M3.2 3
  • FLJ12619 2
  • C6orf62 5

External Ids for C6orf62 Gene

Previous GeneCards Identifiers for C6orf62 Gene

  • GC06M024767
  • GC06M024813
  • GC06M024705
  • GC06M024654

Summaries for C6orf62 Gene

GeneCards Summary for C6orf62 Gene

C6orf62 (Chromosome 6 Open Reading Frame 62) is a Protein Coding gene. Diseases associated with C6orf62 include Succinic Semialdehyde Dehydrogenase Deficiency and Gamma-Amino Butyric Acid Metabolism Disorder.

Additional gene information for C6orf62 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C6orf62 Gene

Genomics for C6orf62 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for C6orf62 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C6orf62 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C6orf62

Top Transcription factor binding sites by QIAGEN in the C6orf62 gene promoter:
  • AML1a
  • AP-2gamma
  • ARP-1
  • ATF-2
  • CRE-BP1
  • En-1
  • Gfi-1
  • HNF-1A
  • POU2F1a
  • Sp1

Genomic Locations for C6orf62 Gene

Latest Assembly
16,622 bases
Minus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
14,294 bases
Minus strand

(GRCh37/hg19 by Ensembl)
15,976 bases
Minus strand

Genomic View for C6orf62 Gene

Genes around C6orf62 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C6orf62 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C6orf62 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C6orf62 Gene

Proteins for C6orf62 Gene

  • Protein details for C6orf62 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Uncharacterized protein C6orf62
    Protein Accession:
    Secondary Accessions:
    • Q3LIB6
    • Q5JVZ2
    • Q5JVZ3
    • Q6IA63
    • Q9H1Z2

    Protein attributes for C6orf62 Gene

    229 amino acids
    Molecular mass:
    27083 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for C6orf62 Gene


neXtProt entry for C6orf62 Gene

Post-translational modifications for C6orf62 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C6orf62 Gene

No data available for DME Specific Peptides for C6orf62 Gene

Domains & Families for C6orf62 Gene

Gene Families for C6orf62 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C6orf62 Gene


Suggested Antigen Peptide Sequences for C6orf62 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ52139 (B4DWX7_HUMAN)
  • HBV XAg-transactivated protein 12 (CF062_HUMAN)
genes like me logo Genes that share domains with C6orf62: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for C6orf62 Gene

Function for C6orf62 Gene

Phenotypes From GWAS Catalog for C6orf62 Gene

Gene Ontology (GO) - Molecular Function for C6orf62 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with C6orf62: view
genes like me logo Genes that share phenotypes with C6orf62: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C6orf62

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C6orf62 Gene

Localization for C6orf62 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for C6orf62 gene
Compartment Confidence
nucleus 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for C6orf62 Gene

Pathways & Interactions for C6orf62 Gene

PathCards logo

SuperPathways for C6orf62 Gene

No Data Available

Interacting Proteins for C6orf62 Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000367359 Q9GZU0-CF062_HUMAN for C6orf62 Gene via STRING IID

Gene Ontology (GO) - Biological Process for C6orf62 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with C6orf62: view

No data available for Pathways by source and SIGNOR curated interactions for C6orf62 Gene

Drugs & Compounds for C6orf62 Gene

No Compound Related Data Available

Transcripts for C6orf62 Gene

mRNA/cDNA for C6orf62 Gene

10 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C6orf62

Alternative Splicing Database (ASD) splice patterns (SP) for C6orf62 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c
SP1: -
SP2: - - -
SP3: - -

Relevant External Links for C6orf62 Gene

GeneLoc Exon Structure for

Expression for C6orf62 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C6orf62 Gene

Protein differential expression in normal tissues from HIPED for C6orf62 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C6orf62 Gene

Protein tissue co-expression partners for C6orf62 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C6orf62

SOURCE GeneReport for Unigene cluster for C6orf62 Gene:


Evidence on tissue expression from TISSUES for C6orf62 Gene

  • Nervous system(2.9)
  • Spleen(2.2)
genes like me logo Genes that share expression patterns with C6orf62: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for C6orf62 Gene

Orthologs for C6orf62 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C6orf62 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia C6orf62 31
  • 100 (a)
C6H6orf62 30
  • 99.71 (n)
(Canis familiaris)
Mammalia C6orf62 31
  • 99 (a)
C35H6orf62 30
  • 98.11 (n)
(Bos Taurus)
Mammalia C23H6ORF62 31
  • 99 (a)
C23H6orf62 30
  • 96.65 (n)
(Monodelphis domestica)
Mammalia C6orf62 31
  • 98 (a)
(Mus musculus)
Mammalia BC005537 30 17 31
  • 96.22 (n)
(Ornithorhynchus anatinus)
Mammalia C6orf62 31
  • 90 (a)
(Gallus gallus)
Aves C6orf62 31
  • 98 (a)
C2H6ORF62 30
  • 92.43 (n)
(Anolis carolinensis)
Reptilia C6orf62 31
  • 96 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia c6orf62 30
  • 84.28 (n)
Str.7520 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.24169 30
(Danio rerio)
Actinopterygii C19H6orf62 31
  • 87 (a)
zgc:111986 30
  • 79.77 (n)
wufb59h04 30
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 37 (a)
Species where no ortholog for C6orf62 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 Vase (Ciona intestinalis)
  • 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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for C6orf62 Gene

Gene Tree for C6orf62 (if available)
Gene Tree for C6orf62 (if available)

Paralogs for C6orf62 Gene

No data available for Paralogs for C6orf62 Gene

Variants for C6orf62 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C6orf62 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs34238213 - p.Trp116Cys
rs35050510 - p.Arg140Ser

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for C6orf62 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for C6orf62 Gene

Variant ID Type Subtype PubMed ID
nsv515732 CNV loss 19592680
nsv830609 CNV gain 17160897

Variation tolerance for C6orf62 Gene

Residual Variation Intolerance Score: 30.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.42; 9.28% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C6orf62 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C6orf62 Gene

Disorders for C6orf62 Gene

MalaCards: The human disease database

(2) MalaCards diseases for C6orf62 Gene - From: COP

Disorder Aliases PubMed IDs
succinic semialdehyde dehydrogenase deficiency
  • ssadhd
gamma-amino butyric acid metabolism disorder
  • disorder of gamma-aminobutyric acid metabolism
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for C6orf62

Genetic Association Database
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with C6orf62: view

No data available for UniProtKB/Swiss-Prot and Genatlas for C6orf62 Gene

Publications for C6orf62 Gene

  1. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4
  5. The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis. (PMID: 31586073) Capalbo L … D'Avino PP (Nature communications 2019) 3

Products for C6orf62 Gene

  • Biorbyt antibodies for C6orf62

Sources for C6orf62 Gene