Aliases for ERICH6 Gene

Aliases for ERICH6 Gene

  • Glutamate Rich 6 2 3 5
  • Family With Sequence Similarity 194, Member A 2 3
  • Glutamate-Rich Protein 6 3 4
  • Glutamate-Rich 6A 2 3
  • Protein FAM194A 3 4
  • C3orf44 3 4
  • FAM194A 3 4
  • Chromosome 3 Open Reading Frame 44 2
  • Glutamate-Rich 6 2
  • ERICH6A 3

External Ids for ERICH6 Gene

Previous HGNC Symbols for ERICH6 Gene

  • C3orf44
  • FAM194A

Previous GeneCards Identifiers for ERICH6 Gene

  • GC03M150379

Summaries for ERICH6 Gene

GeneCards Summary for ERICH6 Gene

ERICH6 (Glutamate Rich 6) is a Protein Coding gene. An important paralog of this gene is ERICH6B.

Additional gene information for ERICH6 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 ERICH6 Gene

Genomics for ERICH6 Gene

GeneHancer (GH) Regulatory Elements for ERICH6 Gene

Promoters and enhancers for ERICH6 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 ERICH6 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ERICH6

Genomic Locations for ERICH6 Gene

Genomic Locations for ERICH6 Gene
chr3:150,659,882-150,704,563
(GRCh38/hg38)
Size:
44,682 bases
Orientation:
Minus strand
chr3:150,377,672-150,421,758
(GRCh37/hg19)
Size:
44,087 bases
Orientation:
Minus strand

Genomic View for ERICH6 Gene

Genes around ERICH6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ERICH6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ERICH6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ERICH6 Gene

Proteins for ERICH6 Gene

  • Protein details for ERICH6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7L0X2-ERIP6_HUMAN
    Recommended name:
    Glutamate-rich protein 6
    Protein Accession:
    Q7L0X2
    Secondary Accessions:
    • Q8N9Y8
    • Q8NCQ6
    • Q8NCZ6

    Protein attributes for ERICH6 Gene

    Size:
    663 amino acids
    Molecular mass:
    75255 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ERICH6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ERICH6 Gene

Post-translational modifications for ERICH6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ERICH6 Gene

No data available for DME Specific Peptides for ERICH6 Gene

Domains & Families for ERICH6 Gene

Gene Families for ERICH6 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ERICH6 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ERICH6 Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM194A (F194A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q7L0X2

UniProtKB/Swiss-Prot:

ERIP6_HUMAN :
  • Belongs to the ERICH6 family.
Family:
  • Belongs to the ERICH6 family.
genes like me logo Genes that share domains with ERICH6: view

Function for ERICH6 Gene

Phenotypes From GWAS Catalog for ERICH6 Gene

genes like me logo Genes that share phenotypes with ERICH6: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ERICH6

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 ERICH6 Gene

Localization for ERICH6 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 ERICH6 gene
Compartment Confidence
nucleus 1
endosome 1
cytosol 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 ERICH6 Gene

Pathways & Interactions for ERICH6 Gene

PathCards logo

SuperPathways for ERICH6 Gene

No Data Available

Interacting Proteins for ERICH6 Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000295910 Q7L0X2-ERIP6_HUMAN for ERICH6 Gene via STRING IID

;

Gene Ontology (GO) - Biological Process for ERICH6 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ERICH6 Gene

Drugs & Compounds for ERICH6 Gene

No Compound Related Data Available

Transcripts for ERICH6 Gene

mRNA/cDNA for ERICH6 Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
5 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 ERICH6

Alternative Splicing Database (ASD) splice patterns (SP) for ERICH6 Gene

No ASD Table

Relevant External Links for ERICH6 Gene

GeneLoc Exon Structure for
ERICH6

Expression for ERICH6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ERICH6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ERICH6 Gene

This gene is overexpressed in Testis (x42.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ERICH6 Gene



Protein tissue co-expression partners for ERICH6 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ERICH6

genes like me logo Genes that share expression patterns with ERICH6: view

No data available for Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ERICH6 Gene

Orthologs for ERICH6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ERICH6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM194A 31 30
  • 98.64 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FAM194A 31 30
  • 82.91 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FAM194A 31 30
  • 82.64 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fam194a 30
  • 73.77 (n)
mouse
(Mus musculus)
Mammalia Fam194a 31 30
  • 69.93 (n)
OneToOne
Erich6 17
oppossum
(Monodelphis domestica)
Mammalia FAM194A 31
  • 42 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAM194A 31
  • 34 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM194A 31 30
  • 56.05 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM194A 31
  • 36 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam194a 30
  • 52.16 (n)
Species where no ortholog for ERICH6 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)
  • 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)
  • zebrafish (Danio rerio)

Evolution for ERICH6 Gene

ENSEMBL:
Gene Tree for ERICH6 (if available)
TreeFam:
Gene Tree for ERICH6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ERICH6: view image

Paralogs for ERICH6 Gene

Paralogs for ERICH6 Gene

genes like me logo Genes that share paralogs with ERICH6: view

Variants for ERICH6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ERICH6 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs11919896 - p.Gly433Arg
rs16862795 - p.Gly9Val
rs34137455 - p.Arg604His

Additional dbSNP identifiers (rs#s) for ERICH6 Gene

Structural Variations from Database of Genomic Variants (DGV) for ERICH6 Gene

Variant ID Type Subtype PubMed ID
esv2672200 CNV deletion 23128226
esv3598162 CNV loss 21293372

Variation tolerance for ERICH6 Gene

Residual Variation Intolerance Score: 90.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.73; 78.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ERICH6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ERICH6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ERICH6 Gene

Disorders for ERICH6 Gene

Additional Disease Information for ERICH6

No disorders were found for ERICH6 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ERICH6 Gene

Publications for ERICH6 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  3. The functional landscape of Hsp27 reveals new cellular processes such as DNA repair and alternative splicing and proposes novel anticancer targets. (PMID: 25277244) Katsogiannou M … Rocchi P (Molecular & cellular proteomics : MCP 2014) 3 54
  4. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G … Wijmenga C (Gut 2009) 3 54
  5. The full-ORF clone resource of the German cDNA Consortium. (PMID: 17974005) Bechtel S … Schupp I (BMC genomics 2007) 4 54

Products for ERICH6 Gene

Sources for ERICH6 Gene