Aliases for C19orf71 Gene

Aliases for C19orf71 Gene

  • Chromosome 19 Open Reading Frame 71 2 3 5
  • Uncharacterized Protein C19orf71 3 4
  • LOC100128569 2
  • C19orf71 5

External Ids for C19orf71 Gene

Previous GeneCards Identifiers for C19orf71 Gene

  • GC19P003488
  • GC19P003304

Summaries for C19orf71 Gene

GeneCards Summary for C19orf71 Gene

C19orf71 (Chromosome 19 Open Reading Frame 71) is a Protein Coding gene. Diseases associated with C19orf71 include Meckel Syndrome, Type 2.

Additional gene information for C19orf71 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 C19orf71 Gene

Genomics for C19orf71 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for C19orf71 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C19orf71 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C19orf71

Top Transcription factor binding sites by QIAGEN in the C19orf71 gene promoter:
  • AhR
  • AML1a
  • AP-4
  • Arnt
  • E47
  • FOXF2
  • Hand1
  • PPAR-alpha
  • Roaz

Genomic Locations for C19orf71 Gene

Genomic Locations for C19orf71 Gene
chr19:3,539,154-3,544,030
(GRCh38/hg38)
Size:
4,877 bases
Orientation:
Plus strand
chr19:3,539,152-3,544,028
(GRCh37/hg19)
Size:
4,877 bases
Orientation:
Plus strand

Genomic View for C19orf71 Gene

Genes around C19orf71 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C19orf71 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C19orf71 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C19orf71 Gene

Proteins for C19orf71 Gene

  • Protein details for C19orf71 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A6NCJ1-CS071_HUMAN
    Recommended name:
    Uncharacterized protein C19orf71
    Protein Accession:
    A6NCJ1

    Protein attributes for C19orf71 Gene

    Size:
    209 amino acids
    Molecular mass:
    24176 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C19orf71 Gene

Post-translational modifications for C19orf71 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C19orf71 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C19orf71 Gene

Domains & Families for C19orf71 Gene

Gene Families for C19orf71 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C19orf71 Gene

InterPro:
ProtoNet:
genes like me logo Genes that share domains with C19orf71: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for C19orf71 Gene

Function for C19orf71 Gene

Phenotypes From GWAS Catalog for C19orf71 Gene

Phenotypes for C19orf71 Gene

genes like me logo Genes that share phenotypes with C19orf71: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C19orf71

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for C19orf71 Gene

Localization for C19orf71 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 C19orf71 gene
Compartment Confidence
extracellular 1
peroxisome 1
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Endoplasmic reticulum (2)
  • Plasma membrane (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for C19orf71 Gene

Pathways & Interactions for C19orf71 Gene

PathCards logo

SuperPathways for C19orf71 Gene

No Data Available

Interacting Proteins for C19orf71 Gene

Gene Ontology (GO) - Biological Process for C19orf71 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C19orf71 Gene

Drugs & Compounds for C19orf71 Gene

No Compound Related Data Available

Transcripts for C19orf71 Gene

mRNA/cDNA for C19orf71 Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C19orf71

Alternative Splicing Database (ASD) splice patterns (SP) for C19orf71 Gene

No ASD Table

Relevant External Links for C19orf71 Gene

GeneLoc Exon Structure for
C19orf71

Expression for C19orf71 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C19orf71 Gene

mRNA differential expression in normal tissues according to GTEx for C19orf71 Gene

This gene is overexpressed in Testis (x6.5).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C19orf71

SOURCE GeneReport for Unigene cluster for C19orf71 Gene:

Hs.664978
genes like me logo Genes that share expression patterns with C19orf71: view

Primer Products

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 C19orf71 Gene

Orthologs for C19orf71 Gene

This gene was present in the common ancestor of mammals.

Orthologs for C19orf71 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia C19H19orf71 30
  • 98.72 (n)
C19orf71 31
  • 98 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia C20H19orf71 30
  • 83.57 (n)
C19orf71 31
  • 77 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia C7H19orf71 30 31
  • 81.64 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia LOC690617 30
  • 71.87 (n)
Mouse
(Mus musculus)
Mammalia 4930404N11Rik 30 17 31
  • 71.57 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia C19orf71 31
  • 57 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia C19orf71 31
  • 30 (a)
OneToOne
Species where no ortholog for C19orf71 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)
  • 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 C19orf71 Gene

ENSEMBL:
Gene Tree for C19orf71 (if available)
TreeFam:
Gene Tree for C19orf71 (if available)

Paralogs for C19orf71 Gene

No data available for Paralogs for C19orf71 Gene

Variants for C19orf71 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C19orf71 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs34196068 Benign: not specified 3,543,480(+) G/GC INTRON_VARIANT
rs12608919 - p.Pro83Leu
rs6510758 - p.Ala137Val

Additional dbSNP identifiers (rs#s) for C19orf71 Gene

Structural Variations from Database of Genomic Variants (DGV) for C19orf71 Gene

Variant ID Type Subtype PubMed ID
nsv470114 CNV loss 18288195
nsv953948 CNV deletion 24416366

Variation tolerance for C19orf71 Gene

Gene Damage Index Score: 6.09; 75.40% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C19orf71 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C19orf71

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C19orf71 Gene

Disorders for C19orf71 Gene

MalaCards: The human disease database

(1) MalaCards diseases for C19orf71 Gene - From: DISEASES

Disorder Aliases PubMed IDs
meckel syndrome, type 2
  • mks2
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for C19orf71

genes like me logo Genes that share disorders with C19orf71: view

No data available for UniProtKB/Swiss-Prot and Genatlas for C19orf71 Gene

Publications for C19orf71 Gene

  1. The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J … Lucas SM (Nature 2004) 3 4

Products for C19orf71 Gene

Sources for C19orf71 Gene