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

Gene ID: 6007, updated on 13-Apr-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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Location:
1p36.11
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (25272486..25330445)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (25108757..25166740)
105.20220307 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 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 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. Cases of RhD variants RhD*DAU2/DAU6 and RhD*weak D type 4.1 in pregnant women in Saudi Arabia. Owaidah A, et al. Acta Biomed, 2023 Mar 8. PMID 36883669
  2. [Identification and Molecular Biology of Variant D Blood Group of RHD*95A Genotype]. Liu X, et al. Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2022 Dec. PMID 36476913
  3. Molecular and serological analysis of the D variant in the Chinese population and identification of seven novel RHD alleles. Wen J, et al. Transfusion, 2023 Feb. PMID 36382965
  4. Prenatal screening service for fetal RHD genotyping to guide prophylaxis: the two-year experience of the Friuli Venezia Giulia region in Italy. Londero D, et al. Blood Transfus, 2023 Mar. PMID 35848630, Free PMC Article
  5. A novel RHD allele, RHD*1166delA, with D-negative phenotype identified in a Chinese family. Zhang X, et al. Transfusion, 2022 Feb. PMID 34888890

See all (194) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  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. 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.
  4. 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.
  5. 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.
  6. [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].
  7. 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.
  8. Family investigation of a DEL with RHD838A allele.
    Title: Family investigation of a DEL with RHD838A allele.
  9. 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.
  10. The Significance of RHD Genotyping and Characteristic Analysis in Chinese RhD Variant Individuals.
    Title: The Significance of RHD Genotyping and Characteristic Analysis in Chinese RhD Variant Individuals.
Submit: New GeneRIF Correction See all GeneRIFs (135)

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)

Genotypes

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 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
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_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
    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

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