This gene encodes a protein that was identified as a cellular interacting partner of non-structural protein 10 of the severe acute respiratory syndrome coronavirus (SARS-CoV). The encoded protein may function as a negative regulator of transcription. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by R... See more...

Aliases for C11orf74 Gene

Aliases for C11orf74 Gene

  • Chromosome 11 Open Reading Frame 74 2 3 5
  • Protein C11orf74 3 4
  • NWC 3 4
  • Uncharacterized Protein C11orf74 3
  • Protein HEPIS 4
  • HEPIS 3

External Ids for C11orf74 Gene

Previous GeneCards Identifiers for C11orf74 Gene

  • GC11P036318

Summaries for C11orf74 Gene

Entrez Gene Summary for C11orf74 Gene

  • This gene encodes a protein that was identified as a cellular interacting partner of non-structural protein 10 of the severe acute respiratory syndrome coronavirus (SARS-CoV). The encoded protein may function as a negative regulator of transcription. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]

GeneCards Summary for C11orf74 Gene

C11orf74 (Chromosome 11 Open Reading Frame 74) is a Protein Coding gene. Diseases associated with C11orf74 include Recombinase Activating Gene 2 Deficiency and Combined Immunodeficiency With Skin Granulomas.

UniProtKB/Swiss-Prot Summary for C11orf74 Gene

  • Seems to play a role in ciliary BBSome localization, maybe through interaction with IFT-A complex.

Additional gene information for C11orf74 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C11orf74 Gene

Genomics for C11orf74 Gene

GeneHancer (GH) Regulatory Elements for C11orf74 Gene

Promoters and enhancers for C11orf74 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
GH11J036593 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 750.6 +0.6 595 2 ZBTB40 SIX5 LCORL RBPJ CTBP1 NR2F6 ATF1 CREB1 HCFC1 MIXL1 C11orf74 TRAF6 PRR5L RAG2 lnc-RAG2-1
GH11J036626 Enhancer 1 Ensembl ENCODE dbSUPER 11.8 +33.8 33772 3.2 CTBP1 PKNOX1 ZIC2 ZBTB8A TCF7L2 ZBTB20 SCRT2 OSR2 SCRT1 ZNF580 RAG2 C11orf74 RAG1 TRAF6 lnc-RAG2-1 piR-44253-002
GH11J036564 Promoter/Enhancer 0.9 ENCODE CraniofacialAtlas dbSUPER 12.1 -29.7 -29678 0.2 CTCF RAD21 REST SMC3 C11orf74 RAG2 MG828668-021 RAG1
GH11J036541 Enhancer 0.9 Ensembl ENCODE 10.2 -53.1 -53128 1 SREBF1 RAD21 DACH1 CTCF CREM CREB1 TRIM22 ATF1 PKNOX1 IKZF2 RAG1 TRAF6 C11orf74 RAG2 piR-31199-051 piR-45605-002
GH11J036312 Enhancer 0.8 Ensembl ENCODE 9.2 -280.8 -280828 3.2 RELA MAX IKZF1 CEBPA PRDM10 IKZF2 CEBPB JUN JUND EP300 COMMD9 ENSG00000255060 RAG1 TRAF6 RAG2 C11orf74 PRR5L ENSG00000254566 lnc-PRR5L-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 C11orf74 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C11orf74 gene promoter:
  • E47
  • GATA-1
  • GATA-3
  • NF-kappaB
  • NF-kappaB1
  • Nkx2-5
  • STAT1
  • STAT1alpha
  • STAT1beta

Genomic Locations for C11orf74 Gene

Genomic Locations for C11orf74 Gene
chr11:36,594,229-36,659,291
(GRCh38/hg38)
Size:
65,063 bases
Orientation:
Plus strand
chr11:36,616,051-36,694,823
(GRCh37/hg19)
Size:
78,773 bases
Orientation:
Plus strand

Genomic View for C11orf74 Gene

Genes around C11orf74 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C11orf74 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C11orf74 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C11orf74 Gene

Proteins for C11orf74 Gene

  • Protein details for C11orf74 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86VG3-CK074_HUMAN
    Recommended name:
    Protein C11orf74
    Protein Accession:
    Q86VG3
    Secondary Accessions:
    • D3DR18
    • Q96DD6

    Protein attributes for C11orf74 Gene

    Size:
    221 amino acids
    Molecular mass:
    25407 Da
    Quaternary structure:
    • Interacts with IFT122; the interaction associates C11orf74 with IFT-A complex.

    Alternative splice isoforms for C11orf74 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C11orf74 Gene

Post-translational modifications for C11orf74 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for C11orf74 Gene

Domains & Families for C11orf74 Gene

Gene Families for C11orf74 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C11orf74 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C11orf74 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51662 (B4DSA3_HUMAN)
  • cDNA FLJ51661 (B4DYW4_HUMAN)
  • Protein HEPIS (CK074_HUMAN)
genes like me logo Genes that share domains with C11orf74: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for C11orf74 Gene

Function for C11orf74 Gene

Molecular function for C11orf74 Gene

UniProtKB/Swiss-Prot Function:
Seems to play a role in ciliary BBSome localization, maybe through interaction with IFT-A complex.

Phenotypes From GWAS Catalog for C11orf74 Gene

Gene Ontology (GO) - Molecular Function for C11orf74 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 30476139
GO:0120160 intraciliary transport particle A binding IDA 30476139
genes like me logo Genes that share ontologies with C11orf74: view
genes like me logo Genes that share phenotypes with C11orf74: view

Animal Model Products

CRISPR Products

miRNA for C11orf74 Gene

miRTarBase miRNAs that target C11orf74

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C11orf74 Gene

Localization for C11orf74 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 C11orf74 gene
Compartment Confidence
cytosol 4
nucleus 2
extracellular 1
mitochondrion 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Aggresome (2)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for C11orf74 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IEA --
GO:0005929 cilium IEA --
GO:0097731 9+0 non-motile cilium IEA --
genes like me logo Genes that share ontologies with C11orf74: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for C11orf74 Gene

Pathways & Interactions for C11orf74 Gene

PathCards logo

SuperPathways for C11orf74 Gene

No Data Available

Gene Ontology (GO) - Biological Process for C11orf74 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007283 spermatogenesis IEA --
GO:0007340 acrosome reaction IEA --
genes like me logo Genes that share ontologies with C11orf74: view

No data available for Pathways by source and SIGNOR curated interactions for C11orf74 Gene

Drugs & Compounds for C11orf74 Gene

No Compound Related Data Available

Transcripts for C11orf74 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C11orf74 Gene

No ASD Table

Relevant External Links for C11orf74 Gene

GeneLoc Exon Structure for
C11orf74
ECgene alternative splicing isoforms for
C11orf74

Expression for C11orf74 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C11orf74 Gene

Protein differential expression in normal tissues from HIPED for C11orf74 Gene

This gene is overexpressed in Fetal gut (61.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for C11orf74 Gene



Protein tissue co-expression partners for C11orf74 Gene

NURSA nuclear receptor signaling pathways regulating expression of C11orf74 Gene:

C11orf74

SOURCE GeneReport for Unigene cluster for C11orf74 Gene:

Hs.159376

Evidence on tissue expression from TISSUES for C11orf74 Gene

  • Pancreas(4.2)
  • Heart(2.1)
  • Nervous system(2.1)
genes like me logo Genes that share expression patterns with C11orf74: view

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 C11orf74 Gene

Orthologs for C11orf74 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C11orf74 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C11H11orf74 32
  • 98.34 (n)
C11orf74 33
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C15H11orf74 32
  • 80.03 (n)
C15H11ORF74 33
  • 61 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C18H11orf74 32
  • 79.76 (n)
C11orf74 33
  • 61 (a)
OneToOne
mouse
(Mus musculus)
Mammalia B230118H07Rik 17 33 32
  • 77.29 (n)
rat
(Rattus norvegicus)
Mammalia RGD1309730 32
  • 76.19 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia C11orf74 33
  • 45 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C11orf74 33
  • 37 (a)
OneToOne
chicken
(Gallus gallus)
Aves C11orf74 33
  • 24 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii C25H11orf74 33
  • 23 (a)
OneToOne
Species where no ortholog for C11orf74 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)
  • 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)
  • 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)

Evolution for C11orf74 Gene

ENSEMBL:
Gene Tree for C11orf74 (if available)
TreeFam:
Gene Tree for C11orf74 (if available)

Paralogs for C11orf74 Gene

Pseudogenes.org Pseudogenes for C11orf74 Gene

genes like me logo Genes that share paralogs with C11orf74: view

No data available for Paralogs for C11orf74 Gene

Variants for C11orf74 Gene

Sequence variations from dbSNP and Humsavar for C11orf74 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1064793251 likely-pathogenic, pathogenic, not provided, Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency, Primary immunodeficiency, Recombinase activating gene 2 deficiency 36,593,630(+) G/T upstream_transcript_variant
rs10836573 benign, Severe Combined Immune Deficiency, Histiocytic medullary reticulosis 36,592,257(+) T/A/C upstream_transcript_variant
rs113343318 uncertain-significance, Histiocytic medullary reticulosis, Severe Combined Immune Deficiency 36,592,358(+) A/G upstream_transcript_variant
rs1204766339 likely-pathogenic, Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency, Combined immunodeficiency with skin granulomas, Histiocytic medullary reticulosis, Primary immunodeficiency, Recombinase activating gene 2 deficiency 36,592,794(+) T/C/G upstream_transcript_variant
rs121917894 pathogenic, uncertain-significance, Severe combined immunodeficiency, B cell-negative, Histiocytic medullary reticulosis, Primary immunodeficiency, Recombinase activating gene 2 deficiency, Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive 36,593,483(+) C/A/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for C11orf74 Gene

Variant ID Type Subtype PubMed ID
esv2422305 CNV duplication 17116639
esv2674800 CNV deletion 23128226
esv27238 CNV loss 19812545
esv29188 CNV loss 19812545
esv3625963 CNV loss 21293372
nsv1042014 CNV loss 25217958
nsv467791 CNV gain 19166990
nsv467792 CNV gain 19166990
nsv518415 CNV loss 19592680
nsv554003 CNV gain 21841781
nsv554004 CNV gain 21841781
nsv554005 CNV gain 21841781
nsv554006 CNV loss 21841781
nsv832123 CNV gain 17160897
nsv976512 CNV deletion 23825009

Variation tolerance for C11orf74 Gene

Residual Variation Intolerance Score: 86.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.48; 43.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C11orf74 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C11orf74

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C11orf74 Gene

Disorders for C11orf74 Gene

MalaCards: The human disease database

(3) MalaCards diseases for C11orf74 Gene - From: GeneCards

Disorder Aliases PubMed IDs
recombinase activating gene 2 deficiency
combined immunodeficiency with skin granulomas
  • combined cellular and humoral immune defects with granulomas
combined cellular and humoral immune defects with granulomas
  • cchidg
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for C11orf74

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with C11orf74: view

No data available for UniProtKB/Swiss-Prot and Genatlas for C11orf74 Gene

Publications for C11orf74 Gene

  1. C11ORF74 interacts with the IFT-A complex and participates in ciliary BBSome localization. (PMID: 30476139) Takahara M … Nakayama K (Journal of biochemistry 2019) 2 3 4 56
  2. Identification of a novel transcriptional repressor (HEPIS) that interacts with nsp-10 of SARS coronavirus. (PMID: 18433331) Hong M … Li Q (Viral immunology 2008) 2 3 23 56
  3. Search for the Function of NWC, Third Gene Within RAG Locus: Generation and Characterization of NWC-Deficient Mice. (PMID: 26703212) Kasztura M … Kisielow P (Archivum immunologiae et therapiae experimentalis 2016) 2 3 56
  4. Identification of a third evolutionarily conserved gene within the RAG locus and its RAG1-dependent and -independent regulation. (PMID: 15971274) Cebrat M … Kisielow P (European journal of immunology 2005) 2 3 56
  5. Comparative Protein Interaction Network Analysis Identifies Shared and Distinct Functions for the Human ROCO Proteins. (PMID: 29513927) Tomkins JE … Manzoni C (Proteomics 2018) 3 56

Products for C11orf74 Gene

Sources for C11orf74 Gene