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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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