Aliases for C12orf71 Gene

Aliases for C12orf71 Gene

  • Chromosome 12 Open Reading Frame 71 2 3 5
  • Uncharacterized Protein C12orf71 3 4
  • HCG1794298 3

External Ids for C12orf71 Gene

Previous GeneCards Identifiers for C12orf71 Gene

  • GC12M027128
  • GC12M027233
  • GC12M027003

Summaries for C12orf71 Gene

GeneCards Summary for C12orf71 Gene

C12orf71 (Chromosome 12 Open Reading Frame 71) is a Protein Coding gene.

Additional gene information for C12orf71 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 C12orf71 Gene

Genomics for C12orf71 Gene

GeneHancer (GH) Regulatory Elements for C12orf71 Gene

Promoters and enhancers for C12orf71 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J027083 Enhancer 0.6 ENCODE dbSUPER 509.4 +0.2 158 0.9 RFX1 BHLHE40 PRDM10 BMI1 C12orf71 MED21 L13714-080
GH12J027709 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 14.2 -626.9 -626939 3 ZNF217 EP300 ZSCAN5C TCF12 SIN3A MYC NRF1 POLR2G SP1 GTF2E2 ENSG00000256377 MRPS35 MANSC4 C12orf71 KLHL42 MED21 HMGB1P49 piR-35674-097
GH12J027547 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 14.2 -469.0 -468958 11.9 EP300 ZSCAN5C TCF12 POLR2G NCOR1 FOS ZNF10 ZIC2 KDM6A TCF7 ENSG00000248100 PPFIBP1 C12orf71 SMCO2 lnc-SMCO2-4 ENSG00000256056
GH12J027022 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 11.7 +61.5 61473 2.7 ZNF217 EP300 ZSCAN5C NRF1 POLR2G SP1 GTF2E2 PHF8 ZFX POLR2A MED21 lnc-TM7SF3-3 ENSG00000256625 ENSG00000247903 C12orf71 ENSG00000275764
GH12J027011 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 8.1 +70.1 70067 4.6 HNRNPK ZBTB40 EP300 CTCF SIN3A MYC NRF1 USF1 POLR2G SP1 TM7SF3 lnc-INTS13-2 ENSG00000247903 MED21 C12orf71 lnc-INTS13-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C12orf71 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C12orf71

Top Transcription factor binding sites by QIAGEN in the C12orf71 gene promoter:
  • FOXF2
  • FOXO3
  • FOXO3a
  • FOXO3b
  • FOXO4
  • GATA-1
  • GATA-2
  • GATA-3
  • LCR-F1

Genomic Locations for C12orf71 Gene

Genomic Locations for C12orf71 Gene
chr12:27,081,057-27,084,144
(GRCh38/hg38)
Size:
3,088 bases
Orientation:
Minus strand
chr12:27,233,990-27,235,455
(GRCh37/hg19)
Size:
1,466 bases
Orientation:
Minus strand

Genomic View for C12orf71 Gene

Genes around C12orf71 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C12orf71 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C12orf71 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C12orf71 Gene

Proteins for C12orf71 Gene

  • Protein details for C12orf71 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A8MTZ7-CL071_HUMAN
    Recommended name:
    Uncharacterized protein C12orf71
    Protein Accession:
    A8MTZ7

    Protein attributes for C12orf71 Gene

    Size:
    269 amino acids
    Molecular mass:
    30355 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C12orf71 Gene

Post-translational modifications for C12orf71 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C12orf71 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C12orf71 Gene

Domains & Families for C12orf71 Gene

Gene Families for C12orf71 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C12orf71 Gene

InterPro:
ProtoNet:
genes like me logo Genes that share domains with C12orf71: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for C12orf71 Gene

Function for C12orf71 Gene

Phenotypes From GWAS Catalog for C12orf71 Gene

Phenotypes for C12orf71 Gene

MGI mutant phenotypes for C12orf71:
inferred from 1 alleles
GenomeRNAi human phenotypes for C12orf71:
genes like me logo Genes that share phenotypes with C12orf71: view

Animal Models for C12orf71 Gene

MGI Knock Outs for C12orf71:

Animal Model Products

CRISPR Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for C12orf71 Gene

Localization for C12orf71 Gene

Subcellular locations from

COMPARTMENTS
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 C12orf71 gene
Compartment Confidence
nucleus 2
cytosol 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for C12orf71 Gene

Pathways & Interactions for C12orf71 Gene

PathCards logo

SuperPathways for C12orf71 Gene

No Data Available

Interacting Proteins for C12orf71 Gene

;

Gene Ontology (GO) - Biological Process for C12orf71 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C12orf71 Gene

Drugs & Compounds for C12orf71 Gene

No Compound Related Data Available

Transcripts for C12orf71 Gene

mRNA/cDNA for C12orf71 Gene

1 REFSEQ mRNAs :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C12orf71 Gene

No ASD Table

Relevant External Links for C12orf71 Gene

GeneLoc Exon Structure for
C12orf71

Expression for C12orf71 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C12orf71 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for C12orf71 Gene

This gene is overexpressed in Testis (x12.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C12orf71 Gene



Protein tissue co-expression partners for C12orf71 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C12orf71

SOURCE GeneReport for Unigene cluster for C12orf71 Gene:

Hs.334003
genes like me logo Genes that share expression patterns with C12orf71: view

No data available for Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for C12orf71 Gene

Orthologs for C12orf71 Gene

This gene was present in the common ancestor of mammals.

Orthologs for C12orf71 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C12H12orf71 30
  • 98.76 (n)
C12orf71 31
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC100684484 30
  • 74.63 (n)
C12orf71 31
  • 49 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C5H12orf71 30
  • 73.16 (n)
C12orf71 31
  • 46 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 1700034J05Rik 17 31 30
  • 64.3 (n)
rat
(Rattus norvegicus)
Mammalia LOC690784 30
  • 64.29 (n)
oppossum
(Monodelphis domestica)
Mammalia C12orf71 31
  • 25 (a)
OneToOne
Species where no ortholog for C12orf71 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)
  • lizard (Anolis carolinensis)
  • 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)

Evolution for C12orf71 Gene

ENSEMBL:
Gene Tree for C12orf71 (if available)
TreeFam:
Gene Tree for C12orf71 (if available)

Paralogs for C12orf71 Gene

Pseudogenes.org Pseudogenes for C12orf71 Gene

genes like me logo Genes that share paralogs with C12orf71: view

No data available for Paralogs for C12orf71 Gene

Variants for C12orf71 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C12orf71 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs708167 - p.Ile140Val

Additional dbSNP identifiers (rs#s) for C12orf71 Gene

Structural Variations from Database of Genomic Variants (DGV) for C12orf71 Gene

Variant ID Type Subtype PubMed ID
dgv2417n54 CNV gain 21841781
esv2745664 CNV deletion 23290073
nsv557805 CNV loss 21841781
nsv832356 CNV gain 17160897

Variation tolerance for C12orf71 Gene

Residual Variation Intolerance Score: 73.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.54; 72.07% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C12orf71 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C12orf71

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C12orf71 Gene

Disorders for C12orf71 Gene

Additional Disease Information for C12orf71

No disorders were found for C12orf71 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C12orf71 Gene

Publications for C12orf71 Gene

  1. The finished DNA sequence of human chromosome 12. (PMID: 16541075) Scherer SE … Baylor College of Medicine Human Genome Sequencing Center Sequence Production Team (Nature 2006) 4 54
  2. The sequence of the human genome. (PMID: 11181995) Venter JC … Zhu X (Science (New York, N.Y.) 2001) 3 54

Products for C12orf71 Gene

Sources for C12orf71 Gene