C11orf94 Gene (Protein Coding)

Chromosome 11 Open Reading Frame 94

GC11M066220
GIFtS:
27
See more...

Aliases for C11orf94 Gene

Aliases for C11orf94 Gene

  • Chromosome 11 Open Reading Frame 94 2 3 5
  • Uncharacterized Protein C11orf94 3 4
  • C11orf94 5

External Ids for C11orf94 Gene

Previous GeneCards Identifiers for C11orf94 Gene

  • GC11M045885
  • GC11M045928
  • GC11M045635
  • GC11M047069
  • GC11M047916
  • GC11M055780
  • GC11M055990
  • GC11M056141
  • GC11M059665
  • GC11M050773
  • GC11M051568
  • GC11M052230
  • GC11M052890
  • GC11M053558
  • GC11M054224
  • GC11M054890
  • GC11M055587
  • GC11M061097
  • GC11M063578

Summaries for C11orf94 Gene

GeneCards Summary for C11orf94 Gene

C11orf94 (Chromosome 11 Open Reading Frame 94) is a Protein Coding gene. Diseases associated with C11orf94 include Phosphoglycerate Kinase 1 Deficiency and Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects.

Additional gene information for C11orf94 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 C11orf94 Gene

Genomics for C11orf94 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for C11orf94 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
GH11J045905 Enhancer 0.8 Ensembl ENCODE dbSUPER 250.7 +0.3 271 3.2 POLR2A NFIC SUPT5H CREB1 PAF1 C11orf94 ENSG00000255498 HSALNG0083957 lnc-C11orf94-2 SLC35C1 MAPK8IP1
GH11J045854 Promoter/Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.6 +49.2 49170 6.2 ZIC2 YY1 ZNF341 SIN3A RXRA ZBTB33 JUND HNF4A MAFK FOXA1 MAPK8IP1 ENSG00000255498 C11orf94 LARGE2 PEX16 LINC02716 SLC35C1 HSALNG0083954 CRY2
GH11J045879 Enhancer 1.2 Ensembl ENCODE dbSUPER 13 +26.2 26210 3.2 ZNF600 NCOR1 IKZF1 JUND NFIC ZIC2 REST BHLHE40 ZNF639 MNT MAPK8IP1 C11orf94 ENSG00000255498 PEX16 LARGE2 LINC02716 HE855927 HSALNG0083955 CRY2
GH11J045938 Enhancer 0.6 Ensembl dbSUPER 13 -32.2 -32229 1.4 BHLHE40 ZBTB33 ATF2 ATF7 PEX16 C11orf94 ENSG00000255498 lnc-PEX16-1 lnc-PEX16-2 LARGE2 PHF21A
GH11J045959 Enhancer 0.6 Ensembl 11.3 -53.3 -53329 1.6 ATF3 YY1 CEBPB RXRA ZBTB33 HNF4A RAD21 REST MAX NR2F2 HSALNG0083965 LARGE2 PEX16 C11orf94 ENSG00000255498 lnc-PEX16-2 PHF21A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C11orf94 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C11orf94

Genomic Locations for C11orf94 Gene

Latest Assembly
chr11:45,906,513-45,907,272
(GRCh38/hg38)
Size:
760 bases
Orientation:
Minus strand

Previous Assembly
chr11:45,928,085-45,928,822
(GRCh37/hg19 by Entrez Gene)
Size:
738 bases
Orientation:
Minus strand

chr11:45,928,085-45,928,833
(GRCh37/hg19 by Ensembl)
Size:
749 bases
Orientation:
Minus strand

Genomic View for C11orf94 Gene

Genes around C11orf94 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C11orf94 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C11orf94 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for C11orf94 Gene

Proteins for C11orf94 Gene

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  3. Assay products for research

  • Protein details for C11orf94 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    C9JXX5-CK094_HUMAN
    Recommended name:
    Uncharacterized protein C11orf94
    Protein Accession:
    C9JXX5

    Protein attributes for C11orf94 Gene

    Size:
    98 amino acids
    Molecular mass:
    10902 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C11orf94 Gene

Protein Expression for C11orf94 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for C11orf94 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C11orf94 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C11orf94 Gene

Domains & Families for C11orf94 Gene

Gene Families for C11orf94 Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for C11orf94 Gene

InterPro:
genes like me logo Genes that share domains with C11orf94: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for C11orf94 Gene

Function for C11orf94 Gene

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  4. Inhibitory RNAs for research
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  6. Cell Lines for research

Phenotypes From GWAS Catalog for C11orf94 Gene

genes like me logo Genes that share phenotypes with C11orf94: view

Animal Models for C11orf94 Gene

MGI Knock Outs for C11orf94:

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C11orf94

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 C11orf94 Gene

Localization for C11orf94 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C11orf94 Gene

Secreted.

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 C11orf94 gene
Compartment Confidence
extracellular 4
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 0

Gene Ontology (GO) - Cellular Components for C11orf94 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with C11orf94: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for C11orf94 Gene

Pathways & Interactions for C11orf94 Gene

PathCards logo

SuperPathways for C11orf94 Gene

No Data Available

Interacting Proteins for C11orf94 Gene

Gene Ontology (GO) - Biological Process for C11orf94 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C11orf94 Gene

Drugs & Compounds for C11orf94 Gene

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No Compound Related Data Available

Transcripts for C11orf94 Gene

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mRNA/cDNA for C11orf94 Gene

1 REFSEQ mRNAs :
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 C11orf94

Alternative Splicing Database (ASD) splice patterns (SP) for C11orf94 Gene

No ASD Table

Relevant External Links for C11orf94 Gene

GeneLoc Exon Structure for
C11orf94

Expression for C11orf94 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C11orf94 Gene

mRNA expression in normal human tissues for C11orf94 Gene
mRNA expression by GTEx for C11orf94 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

mRNA differential expression in normal tissues according to GTEx for C11orf94 Gene

This gene is overexpressed in Testis (x43.3).

Protein differential expression in normal tissues from HIPED for C11orf94 Gene

This gene is overexpressed in Cervix (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C11orf94 Gene



Protein tissue co-expression partners for C11orf94 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C11orf94

SOURCE GeneReport for Unigene cluster for C11orf94 Gene:

Hs.193741
genes like me logo Genes that share expression patterns with C11orf94: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for C11orf94 Gene

Orthologs for C11orf94 Gene

This gene was present in the common ancestor of mammals.

Orthologs for C11orf94 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia C11H11orf94 29
  • 99.32 (n)
C11orf94 30
  • 99 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia C11orf94 30
  • 85 (a)
 OneToOne
C18H11orf94 29
  • 82.31 (n)
Mouse
(Mus musculus)
 Mammalia 1700029I15Rik 29 16 30
  • 82.65 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia RGD1563263 29
  • 82.47 (n)
Cow
(Bos Taurus)
 Mammalia C15H11orf94 29 30
  • 79.93 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia C11orf94 30
  • 50 (a)
 OneToOne
Species where no ortholog for C11orf94 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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 C11orf94 Gene

ENSEMBL:
Gene Tree for C11orf94 (if available)
TreeFam:
Gene Tree for C11orf94 (if available)
Alliance of Genome Resources:
Additional Orthologs for C11orf94

Paralogs for C11orf94 Gene

No data available for Paralogs for C11orf94 Gene

Variants for C11orf94 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C11orf94 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs2271849 -- p.Gln80His

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for C11orf94 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 C11orf94 Gene

Variant ID Type Subtype PubMed ID
nsv516442 CNV loss 19592680

Variation tolerance for C11orf94 Gene

Residual Variation Intolerance Score: 82.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.00; 20.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C11orf94 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C11orf94
Leiden Open Variation Database (LOVD)
C11orf94

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C11orf94 Gene

Disorders for C11orf94 Gene

MalaCards: The human disease database

(2) MalaCards diseases for C11orf94 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for C11orf94

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with C11orf94: view

No data available for UniProtKB/Swiss-Prot and Genatlas for C11orf94 Gene

Publications for C11orf94 Gene

  1. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PMID: 16554811) Taylor TD … Sakaki Y (Nature 2006) 4
  2. The sequence of the human genome. (PMID: 11181995) Venter JC … Zhu X (Science (New York, N.Y.) 2001) 3

ExternalLinks

View latest publications for C11orf94 gene in Mastermind

Products for C11orf94 Gene

Sources for C11orf94 Gene