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Aliases for C15orf41 Gene

Aliases for C15orf41 Gene

  • Chromosome 15 Open Reading Frame 41 2 3
  • Protein HH114 4
  • HH114 3

External Ids for C15orf41 Gene

Previous GeneCards Identifiers for C15orf41 Gene

  • GC15P034721
  • GC15P036871
  • GC15P013717

Summaries for C15orf41 Gene

Entrez Gene Summary for C15orf41 Gene

  • This gene encodes a protein with two predicted helix-turn-helix domains. Mutations in this gene were found in families with congenital dyserythropoietic anemia type Ib. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]

GeneCards Summary for C15orf41 Gene

C15orf41 (Chromosome 15 Open Reading Frame 41) is a Protein Coding gene. Diseases associated with C15orf41 include dyserythropoietic anemia, congenital, type ib and dyserythropoietic anemia, congenital, type ia.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C15orf41 Gene

Genomics for C15orf41 Gene

Regulatory Elements for C15orf41 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for C15orf41 Gene

Chromosome:
15
Start:
36,579,603 bp from pter
End:
36,810,260 bp from pter
Size:
230,658 bases
Orientation:
Plus strand

Genomic View for C15orf41 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for C15orf41 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C15orf41 Gene

Proteins for C15orf41 Gene

  • Protein details for C15orf41 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2V0-CO041_HUMAN
    Recommended name:
    Uncharacterized protein C15orf41
    Protein Accession:
    Q9Y2V0
    Secondary Accessions:
    • B2RD87

    Protein attributes for C15orf41 Gene

    Size:
    281 amino acids
    Molecular mass:
    32264 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH06254.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for C15orf41 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C15orf41 Gene

Proteomics data for C15orf41 Gene at MOPED

Post-translational modifications for C15orf41 Gene

  • Ubiquitination at Lys 176
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for C15orf41 Gene

Domains & Families for C15orf41 Gene

Protein Domains for C15orf41 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C15orf41 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C15orf41: view

No data available for Gene Families and UniProtKB/Swiss-Prot for C15orf41 Gene

Function for C15orf41 Gene

Phenotypes for C15orf41 Gene

GenomeRNAi human phenotypes for C15orf41:
genes like me logo Genes that share phenotypes with C15orf41: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for C15orf41

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for C15orf41 Gene

Localization for C15orf41 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for C15orf41 Gene

Pathways & Interactions for C15orf41 Gene

SuperPathways for C15orf41 Gene

No Data Available

Interacting Proteins for C15orf41 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000401362%0d%0a9606.ENSP00000263382%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: Q9Y2V0-CO041_HUMAN ENSP00000401362 for C15orf41 Gene via I2D STRING

Gene Ontology (GO) - Biological Process for C15orf41 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C15orf41 Gene

Drugs & Compounds for C15orf41 Gene

No Compound Related Data Available

Transcripts for C15orf41 Gene

Unigene Clusters for C15orf41 Gene

Chromosome 15 open reading frame 41:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for C15orf41

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for C15orf41 Gene

No ASD Table

Relevant External Links for C15orf41 Gene

GeneLoc Exon Structure for
C15orf41
ECgene alternative splicing isoforms for
C15orf41

Expression for C15orf41 Gene

mRNA expression in normal human tissues for C15orf41 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for C15orf41 Gene

This gene is overexpressed in Heart - Left Ventricle (x14.2).

Protein differential expression in normal tissues from HIPED for C15orf41 Gene

This gene is overexpressed in Fetal ovary (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for C15orf41 Gene



SOURCE GeneReport for Unigene cluster for C15orf41 Gene Hs.48348

genes like me logo Genes that share expression patterns with C15orf41: view

Protein tissue co-expression partners for C15orf41 Gene

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for C15orf41 Gene

Orthologs for C15orf41 Gene

This gene was present in the common ancestor of animals.

Orthologs for C15orf41 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia C10H15orf41 35
  • 93.83 (n)
  • 96.44 (a)
C10H15ORF41 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C30H15orf41 35
  • 94.9 (n)
  • 96.8 (a)
C15orf41 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia BC052040 35
  • 91.58 (n)
  • 95.02 (a)
BC052040 16
BC052040 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia C15H15orf41 35
  • 99.29 (n)
  • 99.64 (a)
C15orf41 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1563680 35
  • 91.93 (n)
  • 94.66 (a)
oppossum
(Monodelphis domestica)
Mammalia C15orf41 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C15orf41 36
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves C5H15ORF41 35
  • 83.33 (n)
  • 82.59 (a)
C5H15ORF41 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C15orf41 36
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c15orf41 35
  • 69.16 (n)
  • 74.77 (a)
Str.12368 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.22285 35
zebrafish
(Danio rerio)
Actinopterygii wufb38f07 35
zgc:154061 35
  • 66.18 (n)
  • 61.82 (a)
C17H15orf41 36
  • 65 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005605 35
  • 46.69 (n)
  • 39.24 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG12713 35
  • 47.44 (n)
  • 40.66 (a)
CG12713 36
  • 26 (a)
OneToOne
Species with no ortholog for C15orf41:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for C15orf41 Gene

ENSEMBL:
Gene Tree for C15orf41 (if available)
TreeFam:
Gene Tree for C15orf41 (if available)

Paralogs for C15orf41 Gene

No data available for Paralogs for C15orf41 Gene

Variants for C15orf41 Gene

Sequence variations from dbSNP and Humsavar for C15orf41 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs386932 -- 36,751,749(-) ggcat(A/T)tgggt intron-variant
rs717315 -- 36,591,995(-) GGCAT(A/G)AAGTG intron-variant
rs717316 -- 36,591,666(-) CCCAA(A/G)CAATG intron-variant
rs723830 -- 36,636,967(+) ATTAC(A/G)TATAG intron-variant
rs723831 -- 36,637,168(+) ACCAA(C/T)GTGTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for C15orf41 Gene

Variant ID Type Subtype PubMed ID
esv2749571 CNV Deletion 23290073
esv2081110 CNV Deletion 18987734
nsv94945 CNV Loss 16902084
esv1000709 CNV Deletion 20482838
esv2749572 CNV Deletion 23290073
esv1525561 CNV Deletion 17803354
esv1643729 CNV Insertion 17803354

Variation tolerance for C15orf41 Gene

Residual Variation Intolerance Score: 48.13% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.04; 95.04% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C15orf41 Gene

HapMap Linkage Disequilibrium report
C15orf41
Human Gene Mutation Database (HGMD)
C15orf41

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C15orf41 Gene

Disorders for C15orf41 Gene

MalaCards: The human disease database

(4) MalaCards diseases for C15orf41 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
dyserythropoietic anemia, congenital, type ib
  • anemia, congenital dyserythropoietic, 1b
dyserythropoietic anemia, congenital, type ia
  • anemia, congenital dyserythropoietic, type i
acrodysostosis
  • acrodysplasia
congenital dyserythropoietic anemia
  • congenital dyshaematopoietic anaemia
- elite association

UniProtKB/Swiss-Prot

CO041_HUMAN
  • Anemia, congenital dyserythropoietic, 1B (CDAN1B) [MIM:615631]: An autosomal recessive blood disorder characterized by morphological abnormalities of erythroblasts, ineffective erythropoiesis, macrocytic anemia and secondary hemochromatosis. It is occasionally associated with bone abnormalities, especially of the hands and feet (acrodysostosis), nail hypoplasia, and scoliosis. Ultrastructural features include internuclear chromatin bridges connecting some nearly completely separated erythroblasts and an abnormal appearance (spongy or Swiss-cheese appearance) of the heterochromatin in a high proportion of the erythroblasts. {ECO:0000269 PubMed:23716552}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for C15orf41

Genetic Association Database (GAD)
C15orf41
Human Genome Epidemiology (HuGE) Navigator
C15orf41
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C15orf41
genes like me logo Genes that share disorders with C15orf41: view

No data available for Genatlas for C15orf41 Gene

Publications for C15orf41 Gene

  1. Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I. (PMID: 23716552) Babbs C. … Buckle V.J. (Haematologica 2013) 67
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 67
  3. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PMID: 19913121) Talmud P.J. … . (Am. J. Hum. Genet. 2009) 67
  4. A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PMID: 17903299) Kathiresan S. … Cupples L.A. (BMC Med. Genet. 2007) 67
  5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PMID: 17207965) Lamesch P. … Vidal M. (Genomics 2007) 67

Products for C15orf41 Gene

Sources for C15orf41 Gene

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