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Aliases for RHCE Gene

Aliases for RHCE Gene

  • Rh Blood Group, CcEe Antigens 2 3
  • Rhesus C/E Antigens 3 4
  • Rh Polypeptide 1 3 4
  • RH30A 3 4
  • RHIXB 3 4
  • RHPI 3 4
  • RHC 3 4
  • RHE 3 4
  • RHCE Blood Group Variant Crawford Antigen Rh43 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 RhCcEe Antigen 3
  • Rh Blood Group C Antigen 3
  • Rh Blood Group Protein 3
  • Rh Polypeptide I 3
  • CD240CE Antigen 4
  • Truncated RHCE 3
  • RhIVb(J) 3
  • CD240CE 3
  • RhVIII 3
  • RhVI 3
  • Rh4 3
  • RH 3

External Ids for RHCE Gene

Previous Symbols for RHCE Gene

  • RH

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 four transcript variants encoding four different isoforms. [provided by RefSeq, Jul 2008]

GeneCards Summary for RHCE Gene

RHCE (Rh Blood Group, CcEe Antigens) is a Protein Coding gene. Diseases associated with RHCE include rh deficiency syndrome and rh isoimmunization. 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RHCE Gene

Genomics for RHCE Gene

Genomic Location for RHCE Gene

Start:
25,361,362 bp from pter
End:
25,430,192 bp from pter
Size:
68,831 bases
Orientation:
Minus strand

Genomic View for RHCE Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RHCE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RHCE Gene

Regulatory Elements 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

Proteomics data for RHCE Gene at MOPED

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 for RHCE Gene

Gene Families for RHCE Gene

HGNC:

UniProtKB/Swiss-Prot:

RHCE_HUMAN
Family:
  • Belongs to the ammonium transporter (TC 2.A.49) family. Rh subfamily.:
    • P18577
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 --
genes like me logo Genes that share ontologies with RHCE: view

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting 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
Jensen Localization Image for RHCE Gene COMPARTMENTS Subcellular localization image for RHCE gene
Compartment Confidence
plasma membrane 4
endoplasmic reticulum 1
extracellular 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 --
GO:0016021 integral component of membrane --
genes like me logo Genes that share ontologies with RHCE: view

Pathways for RHCE Gene

SuperPathways 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:0015696 ammonium transport --
GO:0072488 ammonium transmembrane transport IEA --
genes like me logo Genes that share ontologies with RHCE: view

No data available for Pathways by source for RHCE Gene

Compounds for RHCE Gene

(1) Novoseek inferred chemical compound relationships for RHCE Gene

Compound -log(P) Hits PubMed IDs
deoxyribonucleic acid 25.1 1
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:

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 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 (9.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for RHCE Gene

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.
genes like me logo Genes that share expressions with RHCE: view

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 -- 37
  • 89 (a)
ManyToMany
-- 37
  • 93 (a)
ManyToMany
-- 37
  • 87 (a)
ManyToMany
LOC456645 36
  • 96.24 (n)
  • 91.13 (a)
cow
(Bos Taurus)
Mammalia -- 37
  • 58 (a)
OneToMany
LOC282685 36
  • 73.7 (n)
  • 57.31 (a)
dog
(Canis familiaris)
Mammalia RH30 37
  • 61 (a)
OneToMany
RHCE 36
  • 77.06 (n)
  • 61.39 (a)
mouse
(Mus musculus)
Mammalia Rhd 36
  • 71.43 (n)
  • 58.35 (a)
Rhd 37
  • 57 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 50 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 57 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Rhd 36
  • 70.7 (n)
  • 57.14 (a)
chicken
(Gallus gallus)
Aves RHD 36
  • 57 (n)
  • 43.77 (a)
RHD 37
  • 42 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 41 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia rhd 36
  • 51.07 (n)
  • 36.88 (a)
zebrafish
(Danio rerio)
Actinopterygii rhd 37
  • 34 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Rh50 37
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rhr-1 37
  • 25 (a)
ManyToMany
rhr-2 37
  • 25 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 28 (a)
ManyToMany
CSA.7075 37
  • 29 (a)
ManyToMany
CSA.7848 37
  • 28 (a)
ManyToMany
Species with no ortholog for RHCE:
  • 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

P18577-RHCE_HUMAN
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 MAF
rs12835 -- 25,371,215(-) GAGTC(A/G)CCCTC intron-variant
rs581424 -- 25,409,207(+) CTTGA(C/T)GCACA intron-variant
rs581970 -- 25,409,354(+) CCCAG(C/T)GCTCT intron-variant
rs582674 -- 25,400,315(+) ctcct(G/T)gtcaa intron-variant
rs582675 -- 25,400,317(+) ccttg(C/T)caaat intron-variant

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

Variant ID Type Subtype PubMed ID
nsv834469 CNV Gain+Loss 17160897
nsv9768 CNV Gain+Loss 18304495
nsv7174 OTHER Inversion 18451855
nsv834480 CNV Gain 17160897
nsv499798 OTHER Inversion 21111241
nsv870470 CNV Gain 21882294
dgv200n71 CNV Gain 21882294
nsv870522 CNV Loss 21882294
nsv871967 CNV Gain 21882294
nsv870477 CNV Gain 21882294
esv996331 CNV Gain 20482838
esv28510 CNV Gain+Loss 19812545
nsv482037 CNV Gain 20164927
nsv7479 CNV Insertion 18451855

Relevant External Links for RHCE Gene

HapMap Linkage Disequilibrium report
RHCE
Human Gene Mutation Database (HGMD)
RHCE
Locus Specific Mutation Databases (LSDB)
RHCE
Blood Group Antigen Gene Mutation Database (BGMUT)
Blood Group

Disorders for RHCE Gene

(1) OMIM Diseases for RHCE Gene (111700)

(4) University of Copenhagen DISEASES for RHCE Gene

(1) Novoseek inferred disease relationships for RHCE Gene

Disease -log(P) Hits PubMed IDs
hemolytic disease 84.3 7

Relevant External Links for RHCE

Genetic Association Database (GAD)
RHCE
Human Genome Epidemiology (HuGE) Navigator
RHCE
genes like me logo Genes that share disorders with RHCE: view

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

Publications for RHCE Gene

  1. 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 23
  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 23
  3. 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 23
  4. Molecular genetic basis of the human Rhesus blood group system. (PMID: 8220426) Mouro I. … le van Kim C. (Nat. Genet. 1993) 2 3 4
  5. Localization of the human Rh blood group gene structure to chromosome region 1p34.3-1p36.1 by in situ hybridization. (PMID: 1900257) ChAcrif-Zahar B. … Colin Y. (Hum. Genet. 1991) 3 23

Products for RHCE Gene

Sources for RHCE Gene

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