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RHCE Rh blood group CcEe antigens [ Homo sapiens (human) ]

Gene ID: 6006, updated on 24-Apr-2024

Summary

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Official Symbol
RHCEprovided by HGNC
Official Full Name
Rh blood group CcEe antigensprovided by HGNC
Primary source
HGNC:HGNC:10008
See related
Ensembl:ENSG00000188672 MIM:111700; AllianceGenome:HGNC:10008
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RH; RHC; RHE; Rh4; RHNA; RHPI; RhVI; RH30A; RHIXB; RhVIII; CD240CE; SLC42A4; RhIVb(J); RHCe(152N)
Summary
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]
Expression
Biased expression in bone marrow (RPKM 11.4), prostate (RPKM 0.7) and 2 other tissues See more
Orthologs
all
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Genomic context

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Location:
1p36.11
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (25362249..25430203, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (25198547..25266530, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (25688740..25747426, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904723 Neighboring gene MPRA-validated peak126 silencer Neighboring gene small nucleolar RNA U13 Neighboring gene transmembrane protein 50A Neighboring gene MPRA-validated peak127 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:25740333-25740834 Neighboring gene succinate dehydrogenase complex subunit D pseudogene 7 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 454 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 455 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 457 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 458 Neighboring gene macoilin 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:25829553-25830120 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:25830121-25830686 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:25832992-25833901 Neighboring gene MPRA-validated peak128 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:25844344-25844991 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:25845160-25845754 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 459 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 456 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 457 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:25875990-25876603 Neighboring gene low density lipoprotein receptor adaptor protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:25889735-25890362 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:25893282-25894005 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:25894006-25894730 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:25894731-25895454 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:25900468-25901335 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:25903029-25903950 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:25903951-25904872 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:25908041-25908889 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:25910781-25911344

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. RHCE variant alleles and risk of alloimmunization in Brazilians. Arnoni CP, et al. Immunohematology, 2022 Dec 1. PMID 36789463
  2. Variant genotypes associated with reduced expression of RhCE antigens among Brazilian blood donors. Dezan MR, et al. Transfusion, 2021 Jun. PMID 33687082
  3. RHCE*01 (c.499A>G, p.Met167Val) allele: Weak RhE expression which does not require the E-specific proline 226. Durieux-Roussel E, et al. Transfusion, 2021 Feb. PMID 33399221
  4. RHCE*02 (c.148G>A, p.Val50Ile) allele with silenced RHCE*Ce expression. Anderson R, et al. Transfusion, 2020 Aug. PMID 32608521
  5. A Tutsi family harbouring two new RHCE variant alleles and a new haplotype in the Rh blood group system. Deleers M, et al. Vox Sang, 2020 Jul. PMID 32196693

See all (102) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Genetic polymorphisms and expression of Rhesus blood group RHCE are associated with 2,3-bisphosphoglycerate in humans at high altitude.
    Title: Genetic polymorphisms and expression of Rhesus blood group RHCE are associated with 2,3-bisphosphoglycerate in humans at high altitude.
  2. Polymorphisms in the promoter regions of RHD and RHCE genes in the Chinese Han population.
    Title: Polymorphisms in the promoter regions of RHD and RHCE genes in the Chinese Han population.
  3. RHCE variant alleles and risk of alloimmunization in Brazilians.
    Title: RHCE variant alleles and risk of alloimmunization in Brazilians.
  4. Accurate long-read sequencing allows assembly of the duplicated RHD and RHCE genes harboring variants relevant to blood transfusion.
    Title: Accurate long-read sequencing allows assembly of the duplicated RHD and RHCE genes harboring variants relevant to blood transfusion.
  5. HLA-DRB1 molecules and the presentation of anchor peptides from RhD, RhCE, and KEL proteins.
    Title: HLA-DRB1 molecules and the presentation of anchor peptides from RhD, RhCE, and KEL proteins.
  6. Variant genotypes associated with reduced expression of RhCE antigens among Brazilian blood donors.
    Title: Variant genotypes associated with reduced expression of RhCE antigens among Brazilian blood donors.
  7. RHCE*01 (c.499A>G, p.Met167Val) allele: Weak RhE expression which does not require the E-specific proline 226.
    Title: RHCE*01 (c.499A>G, p.Met167Val) allele: Weak RhE expression which does not require the E-specific proline 226.
  8. RHCE*02 (c.148G>A, p.Val50Ile) allele with silenced RHCE*Ce expression.
    Title: RHCE*02 (c.148G>A, p.Val50Ile) allele with silenced RHCE*Ce expression.
  9. RHD and RHCE molecular analysis in weak D blood donors and in patients with Rh antibodies against their own corresponding Rh antigen.
    Title: RHD and RHCE molecular analysis in weak D blood donors and in patients with Rh antibodies against their own corresponding Rh antigen.
  10. A Tutsi family harbouring two new RHCE variant alleles and a new haplotype in the Rh blood group system.
    Title: A Tutsi family harbouring two new RHCE variant alleles and a new haplotype in the Rh blood group system.
Submit: New GeneRIF Correction See all GeneRIFs (62)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
RH-NULL, AMORPH TYPE
MedGen: C4693796 OMIM: 617970 GeneReviews: Not available
not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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General gene information

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Markers

Homology

Clone Names

  • MGC103977

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ammonium transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in ammonium homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in ammonium transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
part_of ankyrin-1 complex IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
blood group Rh(CE) polypeptide
Names
(C)ces type 1 Rhesus blood group D antigen
RHCE blood group variant Crawford antigen Rh43
RHCE*CeCw blood group antigen
Rh blood group C antigen
Rh blood group CE antigen
Rh blood group CcEe antigen
Rh blood group CcEe antigen cE_340T
Rh blood group CcEe antigens RHCE_916G
Rh blood group D antigen
Rh blood group antigen Evans
Rh blood group protein
Rh polypeptide I
RhCE blood group antigen
RhCE blood group antigens
RhD antigen
Rhesus blood group CE protein
Rhesus blood group CcEe antigen
Rhesus blood group E antigen
Rhesus blood group Rhce antigen
Rhesus blood group antigen CE
Rhesus system C and E polypeptides
blood group Rh(CE) polypeptide 144G RHCE
blood group Rh(CE) polypeptide 225A RHCE
blood group Rh(CE) polypeptide 341A RHCE
blood group Rh(CE) polypeptide 347G RHCE
blood group Rh(CE) polypeptide 537G RHCE
blood group Rh(CE) polypeptide 658C RHCE
blood group Rh(CE) polypeptide 718G RHCE
blood group Rh(CE) polypeptide 999A RHCE
blood group RhCE polypeptide
blood group RhCcEe antigen
blood group protein RHCE
rh polypeptide 1
rhesus C/E antigens
rhesus blood group antigen, RhC antigen
rhesus blood group little e antigen
silenced Rh blood group CcEe antigen

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009208.3 RefSeqGene

    Range
    14368..72944
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_797

mRNA and Protein(s)

  1. NM_001330430.4 → NP_001317359.1  blood group Rh(CE) polypeptide isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (5) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AB018644, AL031284, AL928711
    Consensus CDS
    CCDS81283.1
    UniProtKB/TrEMBL
    E7EU00
    Related
    ENSP00000415417.2, ENST00000413854.5

  2. NM_020485.8 → NP_065231.4  blood group Rh(CE) polypeptide isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform of this protein.
    Source sequence(s)
    AL031284, AL928711
    Consensus CDS
    CCDS30635.1
    UniProtKB/Swiss-Prot
    A7DW68, B7UDF3, B7UDF4, B7UDF5, B7UDF6, B7UDF7, B7UDF8, B7UDF9, B7UDG0, B7UDG1, B7UDG2, B7UDG3, P18577, Q02163, Q02164, Q02165, Q16160, Q2MJW0, Q2VC86, Q3LTM6, Q6AZX5, Q6J2U3, Q7RU06, Q8IZT2, Q8IZT3, Q8IZT4, Q8IZT5, Q9UD13, Q9UD14, Q9UD15, Q9UD16, Q9UD73, Q9UD74, Q9UEC2, Q9UEC3, Q9UPN0
    UniProtKB/TrEMBL
    A0A1L3H056, A0A1L3HDY3, A0A1S6GNA7, A0A220QMN8, A0A3S5XGB6, A0A7H1DHN6
    Related
    ENSP00000294413.6, ENST00000294413.13
    Conserved Domains (1) summary
    cl03012
    Location:18 → 377
    Ammonium_transp; Ammonium Transporter Family

  3. NM_138616.5 → NP_619522.3  blood group Rh(CE) polypeptide isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3), also called RhVIII, lacks three internal exons but maintains the reading frame, as compared to variant 1. Isoform 3 lacks 151 internal aa as compared to isoform 1.
    Source sequence(s)
    AB018644, AL031284, AL928711
    Consensus CDS
    CCDS30634.1
    UniProtKB/TrEMBL
    E7EQ47
    Related
    ENSP00000344485.4, ENST00000346452.8
    Conserved Domains (1) summary
    cl03012
    Location:18 → 157
    Ammonium_transp; Ammonium Transporter Family

  4. NM_138617.5 → NP_619523.3  blood group Rh(CE) polypeptide isoform 4

    See identical proteins and their annotated locations for NP_619523.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4), also called RhVI, lacks three internal exons resulting in a frameshift and use of an upstream stop codon, as compared to variant 1. Isoform 4 lacks an internal segment of 45 aa and has a unique C-terminus as compared to isoform 1.
    Source sequence(s)
    AB018644, AL031284, AL928711
    Consensus CDS
    CCDS30636.1
    UniProtKB/TrEMBL
    Q5VSJ7
    Related
    ENSP00000345084.4, ENST00000340849.8
    Conserved Domains (1) summary
    cl03012
    Location:18 → 241
    Ammonium_transp; Ammonium Transporter Family

  5. NM_138618.6 → NP_619524.5  blood group Rh(CE) polypeptide isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2), also called Rh4, lacks one internal exon resulting in a frameshift and use of an upstream stop codon, as compared to variant 1. Isoform 2 is 63 aa shorter than isoform 1 and has a distinct C-terminus.
    Source sequence(s)
    AB018644, AL031284, AL928711
    Consensus CDS
    CCDS30637.1
    UniProtKB/TrEMBL
    Q5VSJ8
    Related
    ENSP00000334570.5, ENST00000349438.8
    Conserved Domains (1) summary
    cl03012
    Location:18 → 316
    Ammonium_transp; Ammonium Transporter Family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    25362249..25430203 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011541889.4 → XP_011540191.2  blood group Rh(CE) polypeptide isoform X2

    UniProtKB/TrEMBL
    F6XSS0
    Conserved Domains (1) summary
    cl03012
    Location:62 → 412
    Ammonium_transp; Ammonium Transporter Family

  2. XM_047427028.1 → XP_047282984.1  blood group Rh(CE) polypeptide isoform X3

    Related
    ENSP00000311185.4, ENST00000349320.7

  3. XM_017002014.3 → XP_016857503.1  blood group Rh(CE) polypeptide isoform X6

    UniProtKB/TrEMBL
    Q5VSJ8

  4. XM_005245957.5 → XP_005246014.1  blood group Rh(CE) polypeptide isoform X5

    UniProtKB/TrEMBL
    K9JHF5
    Conserved Domains (1) summary
    cl03012
    Location:18 → 362
    Ammonium_transp; Ammonium Transporter Family

  5. XM_011541888.4 → XP_011540190.1  blood group Rh(CE) polypeptide isoform X1

    UniProtKB/TrEMBL
    F6XSS0
    Conserved Domains (1) summary
    cl03012
    Location:14 → 337
    Ammonium_transp; Ammonium Transporter Family

  6. XM_006710810.4 → XP_006710873.1  blood group Rh(CE) polypeptide isoform X4

    UniProtKB/TrEMBL
    Q5XLS8
    Conserved Domains (1) summary
    cl03012
    Location:18 → 346
    Ammonium_transp; Ammonium Transporter Family

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    25198547..25266530 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054338047.1 → XP_054194022.1  blood group Rh(CE) polypeptide isoform X7

  2. XM_054338050.1 → XP_054194025.1  blood group Rh(CE) polypeptide isoform X6

  3. XM_054338049.1 → XP_054194024.1  blood group Rh(CE) polypeptide isoform X5

  4. XM_054338048.1 → XP_054194023.1  blood group Rh(CE) polypeptide isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P18577.3 GenPept UniProtKB/Swiss-Prot:P18577

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