Aliases for ERICH6B Gene

Aliases for ERICH6B Gene

  • Glutamate Rich 6B 2 3 5
  • Family With Sequence Similarity 194, Member B 2 3
  • Glutamate-Rich Protein 6B 3 4
  • Protein FAM194B 3 4
  • FAM194B 3 4
  • Glutamate-Rich 6B 2

External Ids for ERICH6B Gene

Previous HGNC Symbols for ERICH6B Gene

  • FAM194B

Previous GeneCards Identifiers for ERICH6B Gene

  • GC13M046108

Summaries for ERICH6B Gene

GeneCards Summary for ERICH6B Gene

ERICH6B (Glutamate Rich 6B) is a Protein Coding gene. Diseases associated with ERICH6B include Hypotrichosis, Congenital, With Juvenile Macular Dystrophy and Atrichia With Papular Lesions. An important paralog of this gene is ERICH6.

Additional gene information for ERICH6B 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 ERICH6B Gene

Genomics for ERICH6B Gene

GeneHancer (GH) Regulatory Elements for ERICH6B Gene

Promoters and enhancers for ERICH6B 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 ERICH6B on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ERICH6B

Genomic Locations for ERICH6B Gene

Genomic Locations for ERICH6B Gene
chr13:45,534,522-45,615,739
(GRCh38/hg38)
Size:
81,218 bases
Orientation:
Minus strand
chr13:46,108,657-46,189,874
(GRCh37/hg19)
Size:
81,218 bases
Orientation:
Minus strand

Genomic View for ERICH6B Gene

Genes around ERICH6B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ERICH6B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ERICH6B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ERICH6B Gene

Proteins for ERICH6B Gene

  • Protein details for ERICH6B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5W0A0-ERI6B_HUMAN
    Recommended name:
    Glutamate-rich protein 6B
    Protein Accession:
    Q5W0A0
    Secondary Accessions:
    • Q96MB5

    Protein attributes for ERICH6B Gene

    Size:
    696 amino acids
    Molecular mass:
    81686 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ERICH6B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ERICH6B Gene

Post-translational modifications for ERICH6B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ERICH6B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ERICH6B Gene

Domains & Families for ERICH6B Gene

Gene Families for ERICH6B Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ERICH6B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ERICH6B Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM194B (F194B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5W0A0

UniProtKB/Swiss-Prot:

ERI6B_HUMAN :
  • Belongs to the ERICH6 family.
Family:
  • Belongs to the ERICH6 family.
genes like me logo Genes that share domains with ERICH6B: view

Function for ERICH6B Gene

Phenotypes From GWAS Catalog for ERICH6B Gene

genes like me logo Genes that share phenotypes with ERICH6B: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ERICH6B

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 ERICH6B Gene

Localization for ERICH6B 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 ERICH6B gene
Compartment Confidence
nucleus 2
cytosol 2
extracellular 1
endosome 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 ERICH6B Gene

Pathways & Interactions for ERICH6B Gene

PathCards logo

SuperPathways for ERICH6B Gene

No Data Available

Interacting Proteins for ERICH6B Gene

Selected Interacting proteins: Q5W0A0-ERI6B_HUMAN for ERICH6B Gene via IID

Symbol External ID(s) Details
CD247
;

Gene Ontology (GO) - Biological Process for ERICH6B Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ERICH6B Gene

Drugs & Compounds for ERICH6B Gene

No Compound Related Data Available

Transcripts for ERICH6B Gene

mRNA/cDNA for ERICH6B Gene

1 REFSEQ mRNAs :
2 NCBI additional mRNA sequence :
4 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 ERICH6B

Alternative Splicing Database (ASD) splice patterns (SP) for ERICH6B Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c
SP1: -
SP2: -
SP3: - -

Relevant External Links for ERICH6B Gene

GeneLoc Exon Structure for
ERICH6B

Expression for ERICH6B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ERICH6B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ERICH6B Gene

This gene is overexpressed in Testis (x42.8).

Protein differential expression in normal tissues from HIPED for ERICH6B Gene

This gene is overexpressed in Fetal heart (36.3) and Heart (32.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ERICH6B Gene



Protein tissue co-expression partners for ERICH6B Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ERICH6B

genes like me logo Genes that share expression patterns with ERICH6B: view

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 ERICH6B Gene

Orthologs for ERICH6B Gene

This gene was present in the common ancestor of chordates.

Orthologs for ERICH6B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM194B 31 30
  • 98.7 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FAM194B 31 30
  • 68.88 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FAM194B 30
  • 68.28 (n)
rat
(Rattus norvegicus)
Mammalia LOC100911795 30
  • 63.08 (n)
oppossum
(Monodelphis domestica)
Mammalia FAM194B 31
  • 32 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAM194B 31
  • 20 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Erich6b 17
4930564B18Rik 30
chicken
(Gallus gallus)
Aves FAM194B 31
  • 20 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM194B 31
  • 46 (a)
OneToOne
Species where no ortholog for ERICH6B 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for ERICH6B Gene

ENSEMBL:
Gene Tree for ERICH6B (if available)
TreeFam:
Gene Tree for ERICH6B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ERICH6B: view image

Paralogs for ERICH6B Gene

Paralogs for ERICH6B Gene

genes like me logo Genes that share paralogs with ERICH6B: view

Variants for ERICH6B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ERICH6B Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
rs11618506 - p.Leu303Pro
rs12020217 - p.Glu63Asp
rs12020731 - p.Glu99Gly
rs12429125 - p.Pro439Arg
rs1536207 - p.Val653Phe

Additional dbSNP identifiers (rs#s) for ERICH6B Gene

Structural Variations from Database of Genomic Variants (DGV) for ERICH6B Gene

Variant ID Type Subtype PubMed ID
dgv223e201 CNV deletion 23290073
dgv325n67 CNV gain 20364138
esv1002062 CNV loss 20482838
esv2747349 CNV deletion 23290073
esv2747350 CNV deletion 23290073
esv275007 CNV loss 21479260
esv3631959 CNV loss 21293372
nsv510583 CNV deletion 20534489
nsv561579 CNV loss 21841781

Variation tolerance for ERICH6B Gene

Gene Damage Index Score: 16.90; 97.96% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ERICH6B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ERICH6B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ERICH6B Gene

Disorders for ERICH6B Gene

MalaCards: The human disease database

(2) MalaCards diseases for ERICH6B Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ERICH6B

genes like me logo Genes that share disorders with ERICH6B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ERICH6B Gene

Publications for ERICH6B 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. Quantitative mapping of RNA-mediated nuclear estrogen receptor β interactome in human breast cancer cells. (PMID: 29509190) Giurato G … Tarallo R (Scientific data 2018) 3 54
  3. Cytoplasmic Metadherin (MTDH) provides survival advantage under conditions of stress by acting as RNA-binding protein. (PMID: 22199357) Meng X … Leslie KK (The Journal of biological chemistry 2012) 3 54
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 54
  5. Genome-scale RNAi screen for host factors required for HIV replication. (PMID: 18976975) Zhou H … Espeseth AS (Cell host & microbe 2008) 3 54

Products for ERICH6B Gene

Sources for ERICH6B Gene