Free for academic non-profit institutions. Other users need a Commercial license

Aliases for C11orf72 Gene

Subcategory (RNA class) for C11orf72 Gene


Quality Score for this RNA gene is


Aliases for C11orf72 Gene

  • Chromosome 11 Open Reading Frame 72 (Putative) 2 3 5
  • Chromosome 11 Open Reading Frame 72 2

External Ids for C11orf72 Gene

Previous GeneCards Identifiers for C11orf72 Gene

  • GC11M067127
  • GC11M067372

Summaries for C11orf72 Gene

GeneCards Summary for C11orf72 Gene

C11orf72 (Chromosome 11 Open Reading Frame 72 (Putative)) is an RNA Gene, and is affiliated with the ncRNA class. Diseases associated with C11orf72 include Mitochondrial Complex I Deficiency and Leigh Syndrome.

Additional gene information for C11orf72 Gene

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 C11orf72 Gene

Genomics for C11orf72 Gene

GeneHancer (GH) Regulatory Elements for C11orf72 Gene

Promoters and enhancers for C11orf72 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J067604 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 650.7 +0.1 88 3.6 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF766 ENSG00000255119 NDUFV1 C11orf72 PIR42297 NUDT8 CDK2AP2 GC11M067584
GH11J067579 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 12.6 +22.4 22369 10.2 HDGF PKNOX1 CLOCK FOXA2 SMAD1 MLX ARNT ZFP64 ARID4B SIN3A GSTP1 ENSG00000255119 NUDT8 PTPRCAP NDUFV1 C11orf72 DOC2GP RHOD LRP5 ALDH3B2
GH11J067572 Enhancer 1.4 Ensembl ENCODE dbSUPER 12 +33.7 33696 1.4 HDGF PKNOX1 ATF1 FOXA2 ARNT ARID4B SIN3A ZNF2 TCF12 ZNF143 NDUFV1 RBM14 RBM4B ENSG00000255119 C11orf72 DOC2GP NUDT8 TBX10 KDM2A PPP6R3
GH11J067560 Enhancer 1.3 Ensembl ENCODE dbSUPER 11.7 +43.8 43822 3.9 PKNOX1 ATF1 IRF4 ZNF766 ZNF207 FOS ATF7 RUNX3 DEK RXRA PTPRCAP AIP KMT5B NDUFV1 ENSG00000258297 PPP6R3 RBM14 CABP2 C11orf72 ENSG00000255119
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C11orf72 on UCSC Golden Path with GeneCards custom track

Genomic Locations for C11orf72 Gene

Genomic Locations for C11orf72 Gene
3,827 bases
Minus strand
3,827 bases
Minus strand

Genomic View for C11orf72 Gene

Genes around C11orf72 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C11orf72 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C11orf72 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C11orf72 Gene

Proteins for C11orf72 Gene

  • Protein details for C11orf72 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Uncharacterized protein C11orf72
    Protein Accession:

    Protein attributes for C11orf72 Gene

    251 amino acids
    Molecular mass:
    27887 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C11orf72 Gene

Post-translational modifications for C11orf72 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for C11orf72 Gene

Domains & Families for C11orf72 Gene

Protein Domains for C11orf72 Gene


Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C11orf72: view

No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C11orf72 Gene

Function for C11orf72 Gene

genes like me logo Genes that share phenotypes with C11orf72: view

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for C11orf72 Gene

Localization for C11orf72 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 C11orf72 gene
Compartment Confidence
peroxisome 2
nucleus 2
cytosol 2
extracellular 1

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 C11orf72 Gene

Pathways & Interactions for C11orf72 Gene

SuperPathways for C11orf72 Gene

No Data Available

Interacting Proteins for C11orf72 Gene

Gene Ontology (GO) - Biological Process for C11orf72 Gene


No data available for Pathways by source and SIGNOR curated interactions for C11orf72 Gene

Drugs & Compounds for C11orf72 Gene

No Compound Related Data Available

Transcripts for C11orf72 Gene

mRNA/cDNA for C11orf72 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :
(2) RNA Central transcripts :

Unigene Clusters for C11orf72 Gene

Chromosome 11 open reading frame 72:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for C11orf72 Gene

No ASD Table

Relevant External Links for C11orf72 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for C11orf72 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C11orf72 Gene

mRNA differential expression in normal tissues according to GTEx for C11orf72 Gene

This gene is overexpressed in Testis (x5.8).

NURSA nuclear receptor signaling pathways regulating expression of C11orf72 Gene:


SOURCE GeneReport for Unigene cluster for C11orf72 Gene:

genes like me logo Genes that share expression patterns with C11orf72: view

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 , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for C11orf72 Gene

Orthologs for C11orf72 Gene

Evolution for C11orf72 Gene

Gene Tree for C11orf72 (if available)
Gene Tree for C11orf72 (if available)

No data available for Orthologs for C11orf72 Gene

Paralogs for C11orf72 Gene

No data available for Paralogs for C11orf72 Gene

Variants for C11orf72 Gene

Sequence variations from dbSNP and Humsavar for C11orf72 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs11540012 benign, uncertain-significance, not specified, Leigh syndrome, Mitochondrial complex I deficiency 67,608,473(-) C/T upstream_transcript_variant
rs187400726 benign, uncertain-significance, not specified, Mitochondrial complex I deficiency, Leigh syndrome 67,607,091(-) G/A/C/T upstream_transcript_variant
rs199543483 uncertain-significance, likely-benign, Leigh syndrome, Mitochondrial complex I deficiency, not specified 67,608,601(-) C/T upstream_transcript_variant
rs373940385 benign, uncertain-significance, not specified, Mitochondrial complex I deficiency, Leigh syndrome 67,606,960(-) T/G upstream_transcript_variant
rs563140258 uncertain-significance, Mitochondrial complex I deficiency, Leigh syndrome 67,606,894(-) T/A/C upstream_transcript_variant

Variation tolerance for C11orf72 Gene

Gene Damage Index Score: 5.31; 70.57% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C11orf72 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for C11orf72 Gene

Disorders for C11orf72 Gene

MalaCards: The human disease database

(2) MalaCards diseases for C11orf72 Gene - From: GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex i deficiency
  • nadh:q(1) oxidoreductase deficiency
leigh syndrome
  • ls
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for C11orf72

genes like me logo Genes that share disorders with C11orf72: view

No data available for UniProtKB/Swiss-Prot and Genatlas for C11orf72 Gene

Publications for C11orf72 Gene

  1. [Experimental analysis of human specific protein coding open reading frame c11orf72]. (PMID: 23964515) Baskaev KK … Buzdin AA (Bioorganicheskaia khimiia 2013) 2 3 58
  2. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PMID: 16554811) Taylor TD … Sakaki Y (Nature 2006) 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. 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 58
  5. A genome-wide RNAi screen identifies multiple synthetic lethal interactions with the Ras oncogene. (PMID: 19490893) Luo J … Elledge SJ (Cell 2009) 3 58

Products for C11orf72 Gene

Sources for C11orf72 Gene

Loading form....