Aliases for RHEX Gene

Aliases for RHEX Gene

  • Regulator Of Hemoglobinization And Erythroid Cell Expansion 2 3 5
  • Regulator Of Hemoglobinization And Erythroid Cell Expansion Protein 3 4
  • Regulator Of Human Erythroid Cell Expansion Protein 3 4
  • Regulator Of Human Erythroid Cell Expansion 2 3
  • C1orf186 3 4
  • Chromosome 1 Open Reading Frame 186 2
  • Uncharacterized Protein C1orf186 3

External Ids for RHEX Gene

Previous HGNC Symbols for RHEX Gene

  • C1orf186

Summaries for RHEX Gene

GeneCards Summary for RHEX Gene

RHEX (Regulator Of Hemoglobinization And Erythroid Cell Expansion) is a Protein Coding gene. Diseases associated with RHEX include Pthirus Pubis Infestation and Lice Infestation.

UniProtKB/Swiss-Prot Summary for RHEX Gene

  • Acts as a signaling transduction factor of the EPO-EPOR signaling pathway promoting erythroid cell differentiation (PubMed:25092874).

Additional gene information for RHEX Gene

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

Genomics for RHEX Gene

GeneHancer (GH) Regulatory Elements for RHEX Gene

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

Genomic Locations for RHEX Gene

Genomic Locations for RHEX Gene
chr1:206,052,723-206,102,701
(GRCh38/hg38)
Size:
49,979 bases
Orientation:
Plus strand
chr1:206,238,872-206,288,647
(GRCh37/hg19)
Size:
49,776 bases
Orientation:
Minus strand

Genomic View for RHEX Gene

Genes around RHEX on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for RHEX Gene

Proteins for RHEX Gene

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

    Protein Symbol:
    Q6ZWK4-RHEX_HUMAN
    Recommended name:
    Regulator of hemoglobinization and erythroid cell expansion protein
    Protein Accession:
    Q6ZWK4

    Protein attributes for RHEX Gene

    Size:
    172 amino acids
    Molecular mass:
    19405 Da
    Quaternary structure:
    • Interacts with EPOR; this interaction occurs in a erythropoietin (EPO)-dependent manner (PubMed:25092874). Interacts with JAK2; this interaction occurs in a erythropoietin (EPO)-dependent manner (PubMed:25092874). Interacts (via tyrosine-phosphorylated form) with GRB2 (PubMed:25092874).

neXtProt entry for RHEX Gene

Post-translational modifications for RHEX Gene

  • Phosphorylated. Phosphorylation on Tyr-132 and Tyr-141 occurs in a erythropoietin (EPO)-dependent manner (PubMed:25092874).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RHEX Gene

No data available for DME Specific Peptides for RHEX Gene

Domains & Families for RHEX Gene

Gene Families for RHEX Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for RHEX Gene

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

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

Function for RHEX Gene

Molecular function for RHEX Gene

UniProtKB/Swiss-Prot Function:
Acts as a signaling transduction factor of the EPO-EPOR signaling pathway promoting erythroid cell differentiation (PubMed:25092874).
UniProtKB/Swiss-Prot Induction:
Up-regulated during erythroid differentiation (PubMed:25092874).

Phenotypes From GWAS Catalog for RHEX Gene

Gene Ontology (GO) - Molecular Function for RHEX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005128 erythropoietin receptor binding IDA 25092874
GO:0005515 protein binding IPI 25092874
genes like me logo Genes that share ontologies with RHEX: view

Phenotypes for RHEX Gene

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

Animal Model Products

CRISPR Products

Clone Products

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

Localization for RHEX Gene

Subcellular locations from UniProtKB/Swiss-Prot for RHEX Gene

Cell membrane; Single-pass membrane protein.

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 RHEX gene
Compartment Confidence
plasma membrane 5
extracellular 3

Gene Ontology (GO) - Cellular Components for RHEX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IDA,IBA 25092874
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with RHEX: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RHEX Gene

Pathways & Interactions for RHEX Gene

PathCards logo

SuperPathways for RHEX Gene

No Data Available

Gene Ontology (GO) - Biological Process for RHEX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030154 cell differentiation IEA --
GO:0036018 cellular response to erythropoietin IMP 25092874
GO:0038162 erythropoietin-mediated signaling pathway IMP 25092874
GO:0043249 erythrocyte maturation IEA --
GO:0045648 positive regulation of erythrocyte differentiation IMP 25092874
genes like me logo Genes that share ontologies with RHEX: view

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

Drugs & Compounds for RHEX Gene

No Compound Related Data Available

Transcripts for RHEX Gene

mRNA/cDNA for RHEX Gene

CRISPR Products

Clone Products

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

No ASD Table

Relevant External Links for RHEX Gene

GeneLoc Exon Structure for
RHEX
ECgene alternative splicing isoforms for
RHEX

Expression for RHEX Gene

NURSA nuclear receptor signaling pathways regulating expression of RHEX Gene:

RHEX

mRNA Expression by UniProt/SwissProt for RHEX Gene:

Q6ZWK4-RHEX_HUMAN
Tissue specificity: Expressed in the proerythroblasts (at protein level) (PubMed:25092874). Expressed strongly in the kidney (PubMed:25092874). Expressed weakly in the pancreas, liver and lung (PubMed:25092874). Expressed strongly in erythroid progenitor cells (EPCs) (PubMed:25092874). Expressed weakly in T-cells and neutrophils (PubMed:25092874).

Evidence on tissue expression from TISSUES for RHEX Gene

  • Kidney(4.2)

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for RHEX Gene

Orthologs for RHEX Gene

This gene was present in the common ancestor of mammals.

Orthologs for RHEX Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C1H1orf186 32
  • 99.42 (n)
dog
(Canis familiaris)
Mammalia C38H1orf186 32
  • 82.24 (n)
cow
(Bos Taurus)
Mammalia C16H1orf186 32
  • 71.06 (n)
Species where no ortholog for RHEX 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)
  • 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)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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 RHEX Gene

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

Paralogs for RHEX Gene

No data available for Paralogs for RHEX Gene

Variants for RHEX Gene

Sequence variations from dbSNP and Humsavar for RHEX Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000508854 -- 206,070,790(+) T/C genic_upstream_transcript_variant, intron_variant
rs1000669265 -- 206,096,525(+) T/A intron_variant
rs1000756074 -- 206,054,191(+) G/C/T genic_upstream_transcript_variant, intron_variant
rs1000796093 -- 206,090,339(+) G/A intron_variant
rs1000892498 -- 206,090,124(+) A/G intron_variant

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

Variant ID Type Subtype PubMed ID
dgv10e180 CNV loss 20482838
dgv784n54 CNV gain 21841781
dgv785n54 CNV loss 21841781
esv1000013 CNV deletion 20482838
esv1010640 CNV insertion 20482838
esv1695799 CNV deletion 17803354
esv2663434 CNV deletion 23128226
esv2667156 CNV deletion 23128226
esv28442 CNV gain 19812545
esv2848124 CNV deletion 24192839
esv3337264 CNV duplication 20981092
esv3386019 CNV duplication 20981092
esv3588649 CNV loss 21293372
esv3588651 CNV loss 21293372
esv3588652 CNV loss 21293372
esv991628 CNV insertion 20482838
nsv1132316 CNV duplication 24896259
nsv4199 CNV insertion 18451855
nsv499241 CNV gain 21111241
nsv832414 CNV gain 17160897

Variation tolerance for RHEX Gene

Residual Variation Intolerance Score: 57.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.85; 48.07% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RHEX Gene

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

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

Disorders for RHEX Gene

MalaCards: The human disease database

(3) MalaCards diseases for RHEX Gene - From: DISEASES

Disorder Aliases PubMed IDs
pthirus pubis infestation
  • crabs
lice infestation
  • infestation by pediculus
parasitic ectoparasitic infectious disease
  • ectoparasitism
- elite association - COSMIC cancer census association via MalaCards
Search RHEX in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RHEX

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

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

Publications for RHEX Gene

  1. RHEX, a novel regulator of human erythroid progenitor cell expansion and erythroblast development. (PMID: 25092874) Verma R … Wojchowski DM (The Journal of experimental medicine 2014) 2 3 4 56
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 56
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 56

Products for RHEX Gene

Sources for RHEX Gene