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    RHD Rh blood group D antigen [ Homo sapiens (human) ]

    Gene ID: 6007, updated on 27-Nov-2024

    Summary

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    Official Symbol
    RHDprovided by HGNC
    Official Full Name
    Rh blood group D antigenprovided by HGNC
    Primary source
    HGNC:HGNC:10009
    See related
    Ensembl:ENSG00000187010 MIM:111680; AllianceGenome:HGNC:10009
    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; Rh4; RH30; RhII; RhPI; DIIIc; RHCED; RHDel; RHPII; RhDCw; CD240D; HDFNRH; RHXIII; SLC42A5; RHDVA(TT); RhK562-II
    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 the RhD protein, and a second gene that encodes both the RhC and RhE antigens on a single polypeptide. The two genes, and a third unrelated gene, are found in a cluster on chromosome 1. 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. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in bone marrow (RPKM 5.0), skin (RPKM 0.4) and 2 other tissues See more
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    Genomic context

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    See RHD in Genome Data Viewer
    Location:
    1p36.11
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (25272486..25330445)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (25108757..25166740)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (25598977..25656936)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:25554020-25555219 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 452 Neighboring gene uncharacterized LOC124903881 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:25559103-25560016 Neighboring gene SYF2 pre-mRNA splicing factor Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:25565284-25566070 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:25566071-25566856 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:25572736-25573460 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:25573461-25574185 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:25580071-25580587 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:25580588-25581105 Neighboring gene arginine and serine rich protein 1 Neighboring gene upstream Rhesus box Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:25593225-25593742 Neighboring gene uncharacterized LOC105376882 Neighboring gene succinate dehydrogenase complex subunit D pseudogene 6 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:25649146-25649874 Neighboring gene downstream Rhesus box Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:25661249-25661779 Neighboring gene Sharpr-MPRA regulatory region 4019 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 453 Neighboring gene uncharacterized LOC124904723 Neighboring gene MPRA-validated peak126 silencer Neighboring gene small nucleolar RNA U13 Neighboring gene transmembrane protein 50A

    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. Identification of RHD alleles with the potential of anti-D immunization among seemingly D- blood donors in Upper Austria. Polin H, et al. Transfusion, 2009 Apr. PMID 19170995
    2. Distribution of weak D types in the Croatian population. Dogic V, et al. Transfus Med, 2011 Aug. PMID 21269342
    3. Overcoming methodical limits of standard RHD genotyping by next-generation sequencing. Stabentheiner S, et al. Vox Sang, 2011 May. PMID 21133932
    4. Weak D and DEL alleles detected by routine SNaPshot genotyping: identification of four novel RHD alleles. Silvy M, et al. Transfusion, 2011 Feb. PMID 20723165
    5. The influence of RhD phenotype on toxoplasmosis- and age-associated changes in personality profile of blood donors. Flegr J, et al. Folia Parasitol (Praha), 2010 Jun. PMID 20608477

    See all (200) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Association of ABO and Rhesus blood groups with symptom emergence in scabies: a cross-sectional study.
      Title: Association of ABO and Rhesus blood groups with symptom emergence in scabies: a cross-sectional study.
    2. Molecular and Family Analyses of a Novel RHD1058G>C Allele in a Chinese RhD Population.
      Title: Molecular and Family Analyses of a Novel RHD1058G>C Allele in a Chinese RhD Population.
    3. [Molecular biology analysis of 2 rare RhD variant individuals with RHD*DEL37].
      Title: [Molecular biology analysis of 2 rare RhD variant individuals with RHD*DEL37].
    4. Genotype analysis to clarify RhD variants in discrepant samples of Chilean population.
      Title: Genotype analysis to clarify RhD variants in discrepant samples of Chilean population.
    5. 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.
    6. Molecular and serological analysis of the D variant in the Chinese population and identification of seven novel RHD alleles.
      Title: Molecular and serological analysis of the D variant in the Chinese population and identification of seven novel RHD alleles.
    7. Prenatal screening service for fetal RHD genotyping to guide prophylaxis: the two-year experience of the Friuli Venezia Giulia region in Italy.
      Title: Prenatal screening service for fetal RHD genotyping to guide prophylaxis: the two-year experience of the Friuli Venezia Giulia region in Italy.
    8. Cases of RhD variants RhD*DAU2/DAU6 and RhD*weak D type 4.1 in pregnant women in Saudi Arabia.
      Title: Cases of RhD variants RhD*DAU2/DAU6 and RhD*weak D type 4.1 in pregnant women in Saudi Arabia.
    9. [Identification and Molecular Biology of Variant D Blood Group of RHD*95A Genotype].
      Title: [Identification and Molecular Biology of Variant D Blood Group of RHD*95A Genotype].
    10. A novel RHD allele, RHD*1166delA, with D-negative phenotype identified in a Chinese family.
      Title: A novel RHD allele, RHD*1166delA, with D-negative phenotype identified in a Chinese family.
    Submit: New GeneRIF Correction See all GeneRIFs (138)

    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
    BLOOD GROUP, RH SYSTEM
    MedGen: C1292171 OMIM: 111690 GeneReviews: Not available
    		Compare labs
    Hemolytic disease of fetus and newborn, RH-induced
    MedGen: C0748400 OMIM: 619462 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)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC165007

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ammonium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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
    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(D) polypeptide
    Names
    D antigen (DCS)
    RH polypeptide 2
    Rh blood group C antigen
    Rh blood group CcEe antigen
    Rh blood group D antigen weak D type 160
    Rh blood group antigen Evans
    Rh blood group, D anitgen
    RhD antigen
    RhD blood group antigen
    RhD glycoprotein
    RhD polypeptide
    Rhesus D blood group protein
    Rhesus blood group antigen D
    Rhesus system D polypeptide
    blood group antigen D
    blood group protein RHD
    rhesus D antigen
    weak RHD 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_007494.1 RefSeqGene

      Range
      5020..62956
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_796

    mRNA and Protein(s)

    1. NM_001127691.3 → NP_001121163.1  blood group Rh(D) polypeptide isoform 2

      See identical proteins and their annotated locations for NP_001121163.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2), also known as del789, lacks three alternate coding exons compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AK297151, AL928711, AY751491
      Consensus CDS
      CCDS53285.1
      UniProtKB/TrEMBL
      B4F4S0, Q5XLT3
      Related
      ENSP00000413849.2, ENST00000454452.6
      Conserved Domains (1) summary
      cl03012
      Location:18 → 312
      Ammonium_transp; Ammonium Transporter Family

    2. NM_001282867.1 → NP_001269796.1  blood group Rh(D) polypeptide isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice junction at the 5' end of an exon compared to variant 1. This difference causes translation initiation at a downstream AUG and results in an isoform (3) with a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AF037626, AK297151, AL928711
      UniProtKB/TrEMBL
      B4DLT8, Q9UPC8
      Conserved Domains (1) summary
      cl03012
      Location:6 → 211
      Ammonium_transp; Ammonium Transporter Family

    3. NM_001282868.1 → NP_001269797.1  blood group Rh(D) polypeptide isoform 4

      See identical proteins and their annotated locations for NP_001269797.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two alternate exons compared to variant 1, that causes a frameshift. The resulting isoform (4) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AK297151, AL928711, AY751492
      Consensus CDS
      CCDS60031.1
      UniProtKB/TrEMBL
      A0A3B3IU43
      Related
      ENSP00000396420.2, ENST00000417538.6
      Conserved Domains (1) summary
      cl03012
      Location:18 → 316
      Ammonium_transp; Ammonium Transporter Family

    4. NM_001282869.2 → NP_001269798.1  blood group Rh(D) polypeptide isoform 5

      See identical proteins and their annotated locations for NP_001269798.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks two alternate exons compared to variant 1, that causes a frameshift. The resulting isoform (4) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AK297151, AL928711, AY751493
      Consensus CDS
      CCDS60030.1
      UniProtKB/TrEMBL
      B4DLT8
      Related
      ENSP00000350150.4, ENST00000357542.8
      Conserved Domains (1) summary
      cl03012
      Location:18 → 356
      Ammonium_transp; Ammonium Transporter Family

    5. NM_001282870.1 → NP_001269799.1  blood group Rh(D) polypeptide isoform 6

      See identical proteins and their annotated locations for NP_001269799.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (6) has a longer and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AK297151, AL928711, AY751494
      Consensus CDS
      CCDS60029.1
      UniProtKB/TrEMBL
      H3BT10, Q5XLT0
      Related
      ENSP00000456966.1, ENST00000568195.5
      Conserved Domains (1) summary
      cl03012
      Location:18 → 384
      Ammonium_transp; Ammonium Transporter Family

    6. NM_001282871.2 → NP_001269800.1  blood group Rh(D) polypeptide isoform 7

      See identical proteins and their annotated locations for NP_001269800.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) contains an alternate exon and lacks two alternate exons compared to variant 1, that causes a frameshift. The resulting isoform (7) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AK297151, AL928711, AY751495
      Consensus CDS
      CCDS60028.1
      UniProtKB/TrEMBL
      H3BT10
      Related
      ENSP00000339577.5, ENST00000342055.9
      Conserved Domains (1) summary
      cl03012
      Location:18 → 356
      Ammonium_transp; Ammonium Transporter Family

    7. NM_001282872.1 → NP_001269801.1  blood group Rh(D) polypeptide isoform 8

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) contains an alternate exon and lacks another alternate exon compared to variant 1, that causes a frameshift. The resulting isoform (8) has a longer and distinct C-terminus compared to isoform 1. Isoform 8 represents the longest isoform of this gene.
      Source sequence(s)
      AK297151, AL928711, AY751496
      Consensus CDS
      CCDS60027.1
      UniProtKB/TrEMBL
      E7EVW1, Q5XLS8
      Related
      ENSP00000399640.2, ENST00000423810.6
      Conserved Domains (1) summary
      cl03012
      Location:18 → 356
      Ammonium_transp; Ammonium Transporter Family

    8. NM_016124.6 → NP_057208.3  blood group Rh(D) polypeptide isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript and encodes isoform 1.
      Source sequence(s)
      AL928711
      Consensus CDS
      CCDS262.1
      UniProtKB/Swiss-Prot
      Q02161, Q02162, Q07618, Q16147, Q16235, Q16355, Q5VSK0, Q5XLS9, Q5XLT1, Q5XLT2, Q9NPK0, Q9UQ20, Q9UQ21, Q9UQ22, Q9UQ23
      UniProtKB/TrEMBL
      A0A1B1R0Y1, A0A1U9WYY4, A0A2S1B5H4, A0A330PLB4, A0A3B0MQP0, A0A3Q8BT41, J7IF04, Q7RU08
      Related
      ENSP00000331871.4, ENST00000328664.9
      Conserved Domains (1) summary
      cl03012
      Location:18 → 377
      Ammonium_transp; Ammonium Transporter Family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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
      25272486..25330445
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017002015.2 → XP_016857504.1  blood group Rh(D) polypeptide isoform X1

      UniProtKB/TrEMBL
      Q5XLS8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      25108757..25166740
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338051.1 → XP_054194026.1  blood group Rh(D) polypeptide isoform X1

    RNA

    1. XR_008486135.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_016225.3: Suppressed sequence

      Description
      NM_016225.3: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q02161.3 GenPept UniProtKB/Swiss-Prot:Q02161

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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