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Aliases for RHCE Gene

Aliases for RHCE Gene

  • Rh Blood Group CcEe Antigens 2 3 5
  • Rhesus C/E Antigens 3 4
  • Rh Polypeptide 1 3 4
  • RH30A 3 4
  • RHIXB 3 4
  • RHPI 3 4
  • Rhe 3 4
  • RHC 3 4
  • RHCE Blood Group Variant Crawford Antigen Rh43 3
  • (C)Ces Type 1 Rhesus Blood Group D Antigen 3
  • Rhesus Blood Group Antigen, RhC Antigen 3
  • Silenced Rh Blood Group CcEe Antigen 3
  • Rhesus Blood Group Little E Antigen 3
  • Rhesus System C And E Polypeptides 3
  • Rhesus Blood Group, CcEe Antigens 2
  • Rhesus Blood Group Rhce Antigen 3
  • Blood Group Rh(CE) Polypeptide 3
  • Rhesus Blood Group CE Protein 3
  • Rh Blood Group Antigen Evans 3
  • Rhesus Blood Group E Antigen 3
  • Blood Group RhCE Polypeptide 3
  • Rh Blood Group CcEe Antigen 3
  • Blood Group RhCcEe Antigen 3
  • Rh Blood Group CE Antigen 3
  • RhCE Blood Group Antigens 3
  • Rh Blood Group C Antigen 3
  • Truncated RhCcEe Antigen 3
  • Rh Blood Group Protein 3
  • Rh Polypeptide I 3
  • CD240CE Antigen 4
  • Truncated RHCE 3
  • RHCe(152N) 3
  • RhIVb(J) 3
  • CD240CE 3
  • RhVIII 3
  • RhVI 3
  • Rh4 3
  • RH 3

External Ids for RHCE Gene

Previous HGNC Symbols for RHCE Gene

  • RH

Previous GeneCards Identifiers for RHCE Gene

  • GC01M025155
  • GC01M024671
  • GC01M024597
  • GC01M024969
  • GC01M025561
  • GC01M025688
  • GC01M023942

Summaries for RHCE Gene

Entrez Gene Summary for RHCE Gene

  • The Rh blood group system is the second most clinically significant of the blood groups, second only to ABO. It is also the most polymorphic of the blood groups, with variations due to deletions, gene conversions, and missense mutations. The Rh blood group includes this gene which encodes both the RhC and RhE antigens on a single polypeptide and a second gene which encodes the RhD protein. The classification of Rh-positive and Rh-negative individuals is determined by the presence or absence of the highly immunogenic RhD protein on the surface of erythrocytes. A mutation in this gene results in amorph-type Rh-null disease. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. [provided by RefSeq, Aug 2016]

GeneCards Summary for RHCE Gene

RHCE (Rh Blood Group CcEe Antigens) is a Protein Coding gene. Diseases associated with RHCE include Anemia, Hemolytic, Rh-Null, Regulator Type and Fetal Erythroblastosis. GO annotations related to this gene include ammonium transmembrane transporter activity. An important paralog of this gene is RHD.

UniProtKB/Swiss-Prot for RHCE Gene

  • May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane.

Gene Wiki entry for RHCE Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RHCE Gene

Genomics for RHCE Gene

Regulatory Elements for RHCE Gene

Enhancers for RHCE Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G025360 1.4 Ensembl ENCODE dbSUPER 52 +68.4 68449 2.5 HDGF PKNOX1 CREB3L1 CHAMP1 YY1 FOS CAVIN1 ZBTB2 CEBPB USF2 RHCE SYF2 ENSG00000261349 PIR39713 GC01P025345 SDHDP7
GH01G025434 1.4 Ensembl ENCODE dbSUPER 49.7 -5.2 -5239 2.4 ARNT TCF12 ZNF766 GATA2 ELK1 JUNB SREBF1 CREB3 SMARCA4 HMBOX1 RHCE SYF2 ENSG00000261349 TMEM57 GC01M025438
GH01G025428 1.4 ENCODE dbSUPER 49.5 -0.4 -377 3.5 HDGF PKNOX1 FOXA2 CREB3L1 ARNT AGO1 ARID4B SIN3A DMAP1 ZNF2 RHCE SYF2 RHD TMEM57
GH01G025467 1 Ensembl ENCODE 62.1 -38.7 -38669 2.4 CTCF MXI1 ARNT JUN FEZF1 FOSL1 ZFHX2 ZBTB48 GATA2 PRDM10 RHCE TMEM57 GC01M025438 LDLRAP1
GH01G025371 1.2 Ensembl ENCODE dbSUPER 50.1 +58.4 58444 1.5 BCOR SMARCA5 CTCF ZNF362 ZMYM3 ZNF707 CBX1 JUND ZNF316 ADNP RHCE TMEM50A SDHDP7 GC01P025345 PIR39713
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RHCE on UCSC Golden Path with GeneCards custom track

Genomic Location for RHCE Gene

Chromosome:
1
Start:
25,360,659 bp from pter
End:
25,430,192 bp from pter
Size:
69,534 bases
Orientation:
Minus strand

Genomic View for RHCE Gene

Genes around RHCE on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for RHCE Gene

Proteins for RHCE Gene

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

    Protein Symbol:
    P18577-RHCE_HUMAN
    Recommended name:
    Blood group Rh(CE) polypeptide
    Protein Accession:
    P18577
    Secondary Accessions:
    • A7DW68
    • B7UDF3
    • B7UDF4
    • B7UDF5
    • B7UDF6
    • B7UDF7
    • B7UDF8
    • B7UDF9
    • B7UDG0
    • B7UDG1
    • B7UDG2
    • B7UDG3
    • Q02163
    • Q02164
    • Q02165
    • Q16160
    • Q2MJW0
    • Q2VC86
    • Q3LTM6
    • Q6AZX5
    • Q6J2U3
    • Q7RU06
    • Q8IZT2
    • Q8IZT3
    • Q8IZT4
    • Q8IZT5
    • Q9UD13
    • Q9UD14
    • Q9UD15
    • Q9UD16
    • Q9UD73
    • Q9UD74
    • Q9UEC2
    • Q9UEC3
    • Q9UPN0

    Protein attributes for RHCE Gene

    Size:
    417 amino acids
    Molecular mass:
    45560 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for RHCE Gene

neXtProt entry for RHCE Gene

Post-translational modifications for RHCE Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RHCE Gene

Domains & Families for RHCE Gene

Gene Families for RHCE Gene

Graphical View of Domain Structure for InterPro Entry

P18577

UniProtKB/Swiss-Prot:

RHCE_HUMAN :
  • Belongs to the ammonium transporter (TC 2.A.49) family. Rh subfamily.
Family:
  • Belongs to the ammonium transporter (TC 2.A.49) family. Rh subfamily.
genes like me logo Genes that share domains with RHCE: view

Function for RHCE Gene

Molecular function for RHCE Gene

GENATLAS Biochemistry:
Rhesus blood group,locus CE,RH30 glycoprotein
UniProtKB/Swiss-Prot Function:
May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane.

Gene Ontology (GO) - Molecular Function for RHCE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008519 ammonium transmembrane transporter activity IEA,IBA --
genes like me logo Genes that share ontologies with RHCE: view
genes like me logo Genes that share phenotypes with RHCE: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

Localization for RHCE Gene

Subcellular locations from UniProtKB/Swiss-Prot for RHCE Gene

Membrane; Multi-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 RHCE gene
Compartment Confidence
plasma membrane 5
cytosol 2
extracellular 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for RHCE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane TAS 1438298
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with RHCE: view

Pathways & Interactions for RHCE Gene

No Data Available

Interacting Proteins for RHCE Gene

Gene Ontology (GO) - Biological Process for RHCE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015695 organic cation transport IBA --
GO:0015696 ammonium transport IEA --
GO:0072488 ammonium transmembrane transport IEA,IBA --
genes like me logo Genes that share ontologies with RHCE: view

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

Drugs & Compounds for RHCE Gene

(1) Additional Compounds for RHCE Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RHCE: view

Transcripts for RHCE Gene

Unigene Clusters for RHCE Gene

Rh blood group, CcEe antigens:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c
SP1: - -
SP2: - - -
SP3: - - -
SP4: -
SP5: - - - -
SP6: - - - -

Relevant External Links for RHCE Gene

GeneLoc Exon Structure for
RHCE
ECgene alternative splicing isoforms for
RHCE

Expression for RHCE Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Whole Blood (x9.8).

Protein differential expression in normal tissues from HIPED for RHCE Gene

This gene is overexpressed in Blymphocyte (38.6), Neutrophil (17.5), and Urine (13.0).

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



Protein tissue co-expression partners for RHCE Gene

NURSA nuclear receptor signaling pathways regulating expression of RHCE Gene:

RHCE

SOURCE GeneReport for Unigene cluster for RHCE Gene:

Hs.523054

mRNA Expression by UniProt/SwissProt for RHCE Gene:

P18577-RHCE_HUMAN
Tissue specificity: Restricted to tissues or cell lines expressing erythroid characters. Isoform 4g and isoform RhPI-Alpha are expressed in immature erythroblasts but not in mature erythroblasts.

Evidence on tissue expression from TISSUES for RHCE Gene

  • Blood(4.7)
  • Bone marrow(4.4)
  • Nervous system(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RHCE Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
Organs:
Head and neck:
  • ear
  • eye
  • head
  • mouth
Abdomen:
  • liver
General:
  • blood
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with RHCE: view

Primer Products

Orthologs for RHCE Gene

This gene was present in the common ancestor of animals.

Orthologs for RHCE Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LOC456645 34
  • 96.24 (n)
-- 35
  • 93 (a)
ManyToMany
-- 35
  • 89 (a)
ManyToMany
-- 35
  • 87 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia RHCE 34
  • 77.06 (n)
RH30 35
  • 61 (a)
OneToMany
cow
(Bos Taurus)
Mammalia LOC282685 34
  • 73.7 (n)
-- 35
  • 58 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Rhd 34 35
  • 71.43 (n)
rat
(Rattus norvegicus)
Mammalia Rhd 34
  • 70.7 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 57 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 50 (a)
OneToMany
chicken
(Gallus gallus)
Aves RHD 34 35
  • 57 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 41 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia rhd 34
  • 51.07 (n)
zebrafish
(Danio rerio)
Actinopterygii rhd 35
  • 34 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Rh50 35
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rhr-1 35
  • 25 (a)
ManyToMany
rhr-2 35
  • 25 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7075 35
  • 29 (a)
ManyToMany
-- 35
  • 28 (a)
ManyToMany
CSA.7848 35
  • 28 (a)
ManyToMany
Species where no ortholog for RHCE 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)
  • 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 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)

Evolution for RHCE Gene

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

Paralogs for RHCE Gene

Paralogs for RHCE Gene

Pseudogenes.org Pseudogenes for RHCE Gene

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

Variants for RHCE Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for RHCE Gene

RHCE_HUMAN-P18577
RhCE and RhD are responsible for the RH blood group system. The molecular basis of the E=Rh3/e=Rh5 blood group antigens is a single variation in position 226; Pro-226 corresponds to Rh3 and Ala-226 to Rh5. The molecular basis of the C=Rh2/c=Rh4 blood group antigens is a single variation in position 102; Ser-103 corresponds to Rh2 and Pro-103 to Rh4.

Sequence variations from dbSNP and Humsavar for RHCE Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1053344 Benign 25,408,815(-) CTCAA(A/G)TTTCC reference, missense
rs586178 Benign 25,420,739(+) AGGGC(A/C/G)CAGAG intron-variant, reference, missense, utr-variant-5-prime
rs609320 Benign 25,390,874(+) CAGAG(C/G)AGAGT intron-variant, reference, missense
rs181860403 untested 25,408,840(+) GCCAA(G/T)GGCCG reference, missense
rs676785 untested 25,408,711(+) CCCAG(A/G)AGGGA reference, missense

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

Variant ID Type Subtype PubMed ID
dgv132n100 CNV gain 25217958
dgv211n54 CNV loss 21841781
dgv212n54 CNV loss 21841781
dgv213n54 CNV loss 21841781
esv2762137 CNV gain 21179565
esv2762632 CNV gain+loss 21179565
esv28510 CNV gain+loss 19812545
esv3585525 CNV gain 21293372
esv3585526 CNV loss 21293372
esv3585527 CNV gain 21293372
esv3585528 CNV loss 21293372
esv3585529 CNV gain 21293372
esv996331 CNV gain 20482838
nsv1009831 CNV gain 25217958
nsv1077270 CNV deletion 25765185
nsv1143443 CNV deletion 24896259
nsv479344 CNV novel sequence insertion 20440878
nsv480324 CNV novel sequence insertion 20440878
nsv481117 CNV novel sequence insertion 20440878
nsv482037 CNV gain 20164927
nsv499798 OTHER inversion 21111241
nsv545843 CNV loss 21841781
nsv545881 CNV loss 21841781
nsv7174 OTHER inversion 18451855
nsv7479 CNV insertion 18451855
nsv834469 CNV gain+loss 17160897
nsv834480 CNV gain 17160897
nsv945834 CNV duplication 23825009
nsv945835 CNV duplication 23825009
nsv945837 CNV duplication 23825009
nsv9768 CNV gain+loss 18304495

Variation tolerance for RHCE Gene

Residual Variation Intolerance Score: 92.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.64; 86.31% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RHCE Gene

Human Gene Mutation Database (HGMD)
RHCE
Blood Group Antigen Gene Mutation Database (BGMUT)
Blood Group System
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RHCE

Disorders for RHCE Gene

MalaCards: The human disease database

(11) MalaCards diseases for RHCE Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
anemia, hemolytic, rh-null, regulator type
  • rh-null, regulator type
fetal erythroblastosis
  • ef - erythroblastosis foetalis
rh isoimmunization
  • rh incompatibility affecting management of mother
appendix adenocarcinoma
  • mucinous adenocarcinoma
blood group incompatibility
- elite association - COSMIC cancer census association via MalaCards
Search RHCE in MalaCards View complete list of genes associated with diseases

Relevant External Links for RHCE

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

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

Publications for RHCE Gene

  1. E variants found in Japanese and c antigenicity alteration without substitution in the second extracellular loop. (PMID: 11724987) Kashiwase K. … Juji T. (Transfusion 2001) 3 4 22 64
  2. Organization of the gene (RHCE) encoding the human blood group RhCcEe antigens and characterization of the promoter region. (PMID: 8188244) Cherif-Zahar B. … Colin Y. (Genomics 1994) 3 4 22 64
  3. Molecular genetic basis of the human Rhesus blood group system. (PMID: 8220426) Mouro I. … le van Kim C. (Nat. Genet. 1993) 2 3 4 64
  4. cDNA cloning of a 30 kDa erythrocyte membrane protein associated with Rh (Rhesus)-blood-group-antigen expression. (PMID: 2123099) Avent N.D. … Anstee D.J. (Biochem. J. 1990) 3 4 22 64
  5. 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) 3 46 64

Products for RHCE Gene

Sources for RHCE Gene

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