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... See more...

Aliases for RHD Gene

Aliases for RHD Gene

  • Rh Blood Group D Antigen 2 3 5
  • Blood Group Rh(D) Polypeptide 3 4
  • Rhesus D Antigen 3 4
  • CD240D 2 3
  • RHXIII 3 4
  • DIIIc 2 3
  • RhII 2 3
  • RhPI 2 3
  • Rh4 2 3
  • Rhesus Blood Group D Antigen Allele DIII Type 7 3
  • Truncated Rhesus Blood Group D Antigen 3
  • Truncated Rh Blood Group D Antigen 3
  • Rhesus Blood Group, D Antigen 2
  • Rh Blood Group Antigen Evans 3
  • Rhesus D Blood Group Protein 3
  • Rh Blood Group CcEe Antigen 3
  • Rhesus System D Polypeptide 3
  • Rh Blood Group CE Antigen 3
  • Rh Blood Group, D Anitgen 3
  • Rh Blood Group C Antigen 3
  • RhD Blood Group Antigen 3
  • Blood Group Protein RHD 3
  • Blood Group Antigen D 3
  • Truncated Rhesus D 3
  • RH Polypeptide 2 3
  • Rh Polypeptide 2 4
  • D Antigen (DCS) 3
  • RhD Polypeptide 3
  • CD240D Antigen 4
  • Truncated RhD 3
  • RhD Antigen 3
  • RHDVA(TT) 3
  • RhK562-II 3
  • RHCED 3
  • RHDel 3
  • RHPII 3
  • RhDCw 3
  • Rh30a 2
  • RhPII 4
  • RH30 3
  • RHD 5
  • RH 3

External Ids for RHD Gene

Previous HGNC Symbols for RHD Gene

  • RH

Previous GeneCards Identifiers for RHD Gene

  • GC01M025154
  • GC01M024859
  • GC01M024598
  • GC01P025154
  • GC01P025344
  • GC01P025471
  • GC01P025599
  • GC01P023853

Summaries for RHD Gene

Entrez Gene Summary for RHD 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 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]

GeneCards Summary for RHD Gene

RHD (Rh Blood Group D Antigen) is a Protein Coding gene. Diseases associated with RHD include Retinohepatoendocrinologic Syndrome and Hereditary Spherocytosis. Gene Ontology (GO) annotations related to this gene include ammonium transmembrane transporter activity. An important paralog of this gene is RHCE.

UniProtKB/Swiss-Prot Summary for RHD 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 RHD Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RHD Gene

Genomics for RHD Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RHD Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J025275 Promoter/Enhancer 1.1 EPDnew Ensembl dbSUPER 616.6 -0.3 -326 1.7 IKZF1 DPF2 MGA NCOR1 MNT ZNF592 TAL1 HDAC2 TCF12 ZNF184 RHD NONHSAG000725.2-001 ENSG00000261349 LOC105376882 lnc-SYF2-1 MN308920 SYF2 RSRP1
GH01J025280 Enhancer 0.3 dbSUPER 600.7 +0.7 708 0.1 MLLT1 LOC105376882 NONHSAG000725.2-001 RHD MN308920 RSRP1
GH01J025273 Enhancer 0.2 dbSUPER 600.7 +1.4 1395 0.5 LOC105376882 NONHSAG000725.2-001 RHD MN308920 RSRP1
GH01J025274 Enhancer 0.2 dbSUPER 600.7 +1.1 1094 0.1 LOC105376882 NONHSAG000725.2-001 RHD MN308920 RSRP1
GH01J025410 Enhancer 0.9 Ensembl dbSUPER 41.5 +137.6 137608 0.8 IKZF1 MTA2 MTA1 ZNF24 DPF2 HDAC1 SOX6 TCF12 CTBP1 ZBTB2 RHD SDHDP6 piR-57460-031 ENSG00000238084 lnc-RSRP1-2 RHCE TMEM50A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RHD on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RHD

Top Transcription factor binding sites by QIAGEN in the RHD gene promoter:
  • Chx10
  • GR-alpha
  • MyoD
  • SRF
  • SRF (504 AA)
  • STAT3

Genomic Locations for RHD Gene

Genomic Locations for RHD Gene
chr1:25,272,393-25,330,445
(GRCh38/hg38)
Size:
58,053 bases
Orientation:
Plus strand
chr1:25,598,884-25,656,936
(GRCh37/hg19)
Size:
58,053 bases
Orientation:
Plus strand

Genomic View for RHD Gene

Genes around RHD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RHD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RHD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RHD Gene

Proteins for RHD Gene

  • Protein details for RHD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q02161-RHD_HUMAN
    Recommended name:
    Blood group Rh(D) polypeptide
    Protein Accession:
    Q02161
    Secondary Accessions:
    • Q02162
    • Q07618
    • Q16147
    • Q16235
    • Q16355
    • Q5VSK0
    • Q5XLS9
    • Q5XLT1
    • Q5XLT2
    • Q9NPK0
    • Q9UQ20
    • Q9UQ21
    • Q9UQ22
    • Q9UQ23

    Protein attributes for RHD Gene

    Size:
    417 amino acids
    Molecular mass:
    45211 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for RHD Gene

neXtProt entry for RHD Gene

Post-translational modifications for RHD Gene

No data available for DME Specific Peptides for RHD Gene

Domains & Families for RHD Gene

Gene Families for RHD Gene

HGNC:
Human Protein Atlas (HPA):
  • Blood group antigen proteins
  • CD markers
  • Predicted membrane proteins
  • Transporters

Protein Domains for RHD Gene

InterPro:
Blocks:
  • Rhesus blood group protein signature
  • Rh-like protein/ammonium transporter
ProtoNet:

Suggested Antigen Peptide Sequences for RHD Gene

GenScript: Design optimal peptide antigens:
  • Truncated RHD (A0FIL3_HUMAN)
  • Rhesus blood group D antigen (A4VAS2_HUMAN)
  • Rhesus blood group D antigen (A5PHJ8_HUMAN)
  • Rhesus blood group D antigen (A6PZ59_HUMAN)
  • Rhesus blood group D antigen (A6PZ60_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q02161

UniProtKB/Swiss-Prot:

RHD_HUMAN :
  • Belongs to the ammonium transporter (TC 2.A.49) family. Rh subfamily.
Family:
  • Belongs to the ammonium transporter (TC 2.A.49) family. Rh subfamily.
genes like me logo Genes that share domains with RHD: view

Function for RHD Gene

Molecular function for RHD Gene

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.
GENATLAS Biochemistry:
Rhesus blood group,locus D,absent in the Caucasian RHD-negative phenotype

Phenotypes From GWAS Catalog for RHD Gene

Gene Ontology (GO) - Molecular Function for RHD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008519 ammonium transmembrane transporter activity IEA,IBA 21873635
genes like me logo Genes that share ontologies with RHD: view
genes like me logo Genes that share phenotypes with RHD: view

Animal Models for RHD Gene

MGI Knock Outs for RHD:
  • Rhd Rhd<tm1Goo>
  • Rhd Rhd<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RHD

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RHD Gene

Localization for RHD Gene

Subcellular locations from UniProtKB/Swiss-Prot for RHD Gene

Cell membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RHD gene
Compartment Confidence
plasma membrane 4
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 2
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RHD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0005887 integral component of plasma membrane TAS,IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with RHD: view

Pathways & Interactions for RHD Gene

PathCards logo

SuperPathways for RHD Gene

No Data Available

Interacting Proteins for RHD Gene

Gene Ontology (GO) - Biological Process for RHD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015696 ammonium transport IEA --
GO:0072488 ammonium transmembrane transport IEA,IBA 21873635
genes like me logo Genes that share ontologies with RHD: view

No data available for Pathways by source and SIGNOR curated interactions for RHD Gene

Drugs & Compounds for RHD Gene

(17) Drugs for RHD Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Human Rho(D) immune globulin Approved, Investigational Pharma Target, antibody 0
Rozrolimupab Investigational Pharma Target 0

(22) Additional Compounds for RHD Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RHD: view

Transcripts for RHD Gene

mRNA/cDNA for RHD Gene

9 REFSEQ mRNAs :
82 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RHD

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RHD Gene

No ASD Table

Relevant External Links for RHD Gene

GeneLoc Exon Structure for
RHD

Expression for RHD Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RHD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RHD Gene

This gene is overexpressed in Whole Blood (x13.0).

Protein differential expression in normal tissues from HIPED for RHD Gene

This gene is overexpressed in Urine (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RHD Gene



Protein tissue co-expression partners for RHD Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RHD

SOURCE GeneReport for Unigene cluster for RHD Gene:

Hs.449968

mRNA Expression by UniProt/SwissProt for RHD Gene:

Q02161-RHD_HUMAN
Tissue specificity: Restricted to tissues or cell lines expressing erythroid characters.

Evidence on tissue expression from TISSUES for RHD Gene

  • Bone marrow(4.3)
  • Blood(2.9)
  • Muscle(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RHD Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • ear
  • eye
  • head
  • mouth
Abdomen:
  • liver
General:
  • blood
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with RHD: view

Orthologs for RHD Gene

This gene was present in the common ancestor of animals.

Orthologs for RHD Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LOC456645 30
  • 96.32 (n)
-- 31
  • 92 (a)
ManyToMany
-- 31
  • 91 (a)
ManyToMany
-- 31
  • 90 (a)
ManyToMany
Dog
(Canis familiaris)
Mammalia RHCE 30
  • 76.82 (n)
RH30 31
  • 61 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia LOC282685 30
  • 73.86 (n)
-- 31
  • 58 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Rhd 30 17 31
  • 70.46 (n)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Rhd 30
  • 70.14 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 53 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 50 (a)
OneToMany
Chicken
(Gallus gallus)
Aves RHD 30 31
  • 56.54 (n)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 41 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rhd 30
  • 51.07 (n)
Zebrafish
(Danio rerio)
Actinopterygii rhd 31
  • 34 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Rh50 31
  • 26 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea rhr-1 31
  • 25 (a)
ManyToMany
rhr-2 31
  • 25 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.7075 31
  • 30 (a)
ManyToMany
-- 31
  • 29 (a)
ManyToMany
CSA.7848 31
  • 29 (a)
ManyToMany
Species where no ortholog for RHD was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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 RHD Gene

ENSEMBL:
Gene Tree for RHD (if available)
TreeFam:
Gene Tree for RHD (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RHD: view image

Paralogs for RHD Gene

Paralogs for RHD Gene

(13) SIMAP similar genes for RHD Gene using alignment to 247 proteins:

  • RHD_HUMAN
  • A0FIL3_HUMAN
  • A4VAS2_HUMAN
  • A5PHJ8_HUMAN
  • A6PZ59_HUMAN
  • A6PZ60_HUMAN
  • A6PZ61_HUMAN
  • A7DW67_HUMAN
  • A7J389_HUMAN
  • A7Y8S3_HUMAN
  • A8YPG4_HUMAN
  • A8YPS3_HUMAN
  • A8YPS4_HUMAN
  • A9JPG7_HUMAN
  • A9P3S3_HUMAN
  • A9P3T0_HUMAN
  • A9P3T1_HUMAN
  • A9P3T2_HUMAN
  • A9P3T3_HUMAN
  • A9P3T5_HUMAN
  • A9P3T6_HUMAN
  • A9P3T7_HUMAN
  • A9P3T8_HUMAN
  • A9P3U0_HUMAN
  • B0B3T3_HUMAN
  • B0B3T4_HUMAN
  • B0JE64_HUMAN
  • B0JEG1_HUMAN
  • B1PWD9_HUMAN
  • B2BHH4_HUMAN
  • B2L5V2_HUMAN
  • B2ZGP8_HUMAN
  • B2ZGP9_HUMAN
  • B2ZGQ0_HUMAN
  • B4F4R6_HUMAN
  • B4F4R9_HUMAN
  • B4F4S0_HUMAN
  • B4F4S1_HUMAN
  • B4F4S2_HUMAN
  • B4F4S3_HUMAN
  • B4F4S4_HUMAN
  • B4F4S5_HUMAN
  • B4F4S6_HUMAN
  • B4F4S7_HUMAN
  • B4F4S8_HUMAN
  • B5KN93_HUMAN
  • B5MEI6_HUMAN
  • B5RHP0_HUMAN
  • B6ETL3_HUMAN
  • B6ETL4_HUMAN
  • B6ETP8_HUMAN
  • B6ETQ6_HUMAN
  • B6ETQ7_HUMAN
  • B8Q0B6_HUMAN
  • B8Q0B7_HUMAN
  • B8Q0B8_HUMAN
  • D0AB01_HUMAN
  • D0AB02_HUMAN
  • D1H0P2_HUMAN
  • D1H102_HUMAN
  • D2CRG8_HUMAN
  • D2CRH0_HUMAN
  • D2CRH1_HUMAN
  • D2CYW7_HUMAN
  • D2CYW8_HUMAN
  • D2CYW9_HUMAN
  • D6Q1S7_HUMAN
  • D7GNB0_HUMAN
  • D7GNB2_HUMAN
  • D8MJ84_HUMAN
  • D8MJ86_HUMAN
  • D8MJ87_HUMAN
  • E1Y6M6_HUMAN
  • E5BCZ9_HUMAN
  • E7BAS3_HUMAN
  • E7BAS4_HUMAN
  • E7BAS5_HUMAN
  • E7BAS6_HUMAN
  • E7EVW1_HUMAN
  • F2RM72_HUMAN
  • G0TQY3_HUMAN
  • G1AUC2_HUMAN
  • G4XIC4_HUMAN
  • G4XIC5_HUMAN
  • G4XIC6_HUMAN
  • G4XIC7_HUMAN
  • G4XIC8_HUMAN
  • G4XIC9_HUMAN
  • G4XID0_HUMAN
  • G4XID1_HUMAN
  • G4XMV9_HUMAN
  • G8FL61_HUMAN
  • G8YY11_HUMAN
  • G8YY12_HUMAN
  • G8YY13_HUMAN
  • G8YY14_HUMAN
  • H2DQF5_HUMAN
  • H2DQF6_HUMAN
  • H3BT10_HUMAN
  • H6SH95_HUMAN
  • H8WR07_HUMAN
  • H8WR09_HUMAN
  • H8WR10_HUMAN
  • H8WR11_HUMAN
  • H8WR12_HUMAN
  • I0CKF7_HUMAN
  • I0CKF8_HUMAN
  • I0CKG0_HUMAN
  • I0CKG2_HUMAN
  • I0CKG3_HUMAN
  • I0CKG4_HUMAN
  • I0CKG6_HUMAN
  • I0CKG7_HUMAN
  • I2HA00_HUMAN
  • I2HA01_HUMAN
  • I3W8M7_HUMAN
  • I6UL51_HUMAN
  • I7JB64_HUMAN
  • I7JSY2_HUMAN
  • I7KDN9_HUMAN
  • I7L571_HUMAN
  • I7LL22_HUMAN
  • I7LNF1_HUMAN
  • I7LP06_HUMAN
  • J7GUD8_HUMAN
  • J7GY11_HUMAN
  • J7H0H3_HUMAN
  • J7IF04_HUMAN
  • J7IJ78_HUMAN
  • J7ILZ7_HUMAN
  • J7JLB9_HUMAN
  • K4MWK1_HUMAN
  • K4RNB6_HUMAN
  • K4RNV5_HUMAN
  • K4RNY0_HUMAN
  • K4UI15_HUMAN
  • K4UNQ7_HUMAN
  • K4UQ06_HUMAN
  • K4UQ76_HUMAN
  • K8ES76_HUMAN
  • K8ESS1_HUMAN
  • K8FE51_HUMAN
  • L0RH38_HUMAN
  • L0RH60_HUMAN
  • L7SYG8_HUMAN
  • L8EB13_HUMAN
  • M4Q981_HUMAN
  • M4X2U0_HUMAN
  • M5FHF1_HUMAN
  • O75102_HUMAN
  • O75103_HUMAN
  • O75104_HUMAN
  • O75835_HUMAN
  • O75836_HUMAN
  • O95489_HUMAN
  • Q05GI4_HUMAN
  • Q08GE1_HUMAN
  • Q0KG01_HUMAN
  • Q1KT12_HUMAN
  • Q1KT13_HUMAN
  • Q2A0N8_HUMAN
  • Q2P9N2_HUMAN
  • Q2PBC1_HUMAN
  • Q2UVE8_HUMAN
  • Q2UVE9_HUMAN
  • Q2YHU7_HUMAN
  • Q2YHU8_HUMAN
  • Q2YHU9_HUMAN
  • Q2YHV0_HUMAN
  • Q333A6_HUMAN
  • Q333X4_HUMAN
  • Q49IM5_HUMAN
  • Q49IM6_HUMAN
  • Q4EW05_HUMAN
  • Q4EW06_HUMAN
  • Q4FE19_HUMAN
  • Q4FE20_HUMAN
  • Q59AE6_HUMAN
  • Q59AE7_HUMAN
  • Q5CCG6_HUMAN
  • Q5CCG7_HUMAN
  • Q5DVQ1_HUMAN
  • Q5DVQ2_HUMAN
  • Q5QPZ7_HUMAN
  • Q5QPZ8_HUMAN
  • Q5QPZ9_HUMAN
  • Q5XLS8_HUMAN
  • Q5XLT0_HUMAN
  • Q5XLT3_HUMAN
  • Q6A1H1_HUMAN
  • Q6A1H2_HUMAN
  • Q6A1H3_HUMAN
  • Q6A1H4_HUMAN
  • Q6KC49_HUMAN
  • Q6Y8J3_HUMAN
  • Q70E14_HUMAN
  • Q70E15_HUMAN
  • Q70E16_HUMAN
  • Q70E17_HUMAN
  • Q70HW2_HUMAN
  • Q70P87_HUMAN
  • Q70VV1_HUMAN
  • Q7LGF4_HUMAN
  • Q7RU08_HUMAN
  • Q86SJ7_HUMAN
  • Q86SN4_HUMAN
  • Q86SN5_HUMAN
  • Q86UI2_HUMAN
  • Q86UI3_HUMAN
  • Q86UI4_HUMAN
  • Q8IUC5_HUMAN
  • Q8NDV4_HUMAN
  • Q8NDV5_HUMAN
  • Q8NFY1_HUMAN
  • Q8NFY2_HUMAN
  • Q8WWL0_HUMAN
  • Q96KN0_HUMAN
  • Q96KU1_HUMAN
  • Q96KU2_HUMAN
  • Q96QG8_HUMAN
  • Q99673_HUMAN
  • Q99906_HUMAN
  • Q9H248_HUMAN
  • Q9H4C7_HUMAN
  • Q9HCC3_HUMAN
  • Q9NXY8_HUMAN
  • Q9UDZ3_HUMAN
  • Q9UDZ4_HUMAN
  • Q9UDZ5_HUMAN
  • Q9UPC8_HUMAN
  • R4I4U8_HUMAN
  • S5VXN0_HUMAN
  • S6EY87_HUMAN
  • S6FLQ0_HUMAN
  • T2DJN4_HUMAN
  • T2DKY0_HUMAN
  • T2DL33_HUMAN
  • T2DL93_HUMAN
  • T2DL95_HUMAN
  • T2DLL5_HUMAN
  • T2LKG5_HUMAN
  • T2LLM0_HUMAN
  • T2LLM2_HUMAN
  • T2LLP2_HUMAN
  • U5U1V4_HUMAN
  • U5U2J9_HUMAN
  • U6Q0X6_HUMAN

Pseudogenes.org Pseudogenes for RHD Gene

genes like me logo Genes that share paralogs with RHD: view

Variants for RHD Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for RHD Gene

RHD_HUMAN-Q02161
RHD and RHCE are responsible for the Rh blood group system. The molecular basis of the Tar=Rh40 blood group antigen is a polymorphism in position 110.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RHD Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
739638 Likely Benign: not provided 25,290,671(+) G/A SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
780764 Benign: not provided 25,301,068(+) G/A SYNONYMOUS_VARIANT,INTRON_VARIANT
791783 Benign: not provided 25,290,800(+) T/C INTRON_VARIANT
rs1053362 Benign: not provided 25,301,629(+) C/T SYNONYMOUS_VARIANT,INTRON_VARIANT
rs121912762 Pathogenic: RhD category D-VII. - 25,284,753(+) T/Cp.Leu110Pro MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for RHD Gene

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

Variant ID Type Subtype PubMed ID
dgv132n100 CNV gain 25217958
dgv133n100 CNV gain 25217958
dgv134n100 CNV gain 25217958
dgv135n100 CNV gain 25217958
dgv136n100 CNV loss 25217958
dgv137n100 CNV gain+loss 25217958
dgv138n100 CNV gain+loss 25217958
dgv139n100 CNV loss 25217958
dgv140n100 CNV gain 25217958
dgv141n100 CNV loss 25217958
dgv142n100 CNV gain 25217958
dgv200n54 CNV loss 21841781
dgv201n54 CNV loss 21841781
dgv202n54 CNV loss 21841781
dgv203n54 CNV loss 21841781
dgv204n54 CNV gain+loss 21841781
dgv205n54 CNV loss 21841781
dgv206n54 CNV loss 21841781
dgv207n54 CNV loss 21841781
dgv208n54 CNV loss 21841781
dgv209n54 CNV loss 21841781
dgv210n54 CNV loss 21841781
dgv32e199 CNV deletion 23128226
dgv3e180 CNV gain 20482838
dgv64n106 CNV duplication 24896259
esv22615 CNV gain+loss 19812545
esv2421857 CNV deletion 20811451
esv2451224 CNV loss 19546169
esv2656832 CNV deletion 23128226
esv2677880 CNV deletion 23128226
esv2745608 CNV deletion 23290073
esv2762632 CNV gain+loss 21179565
esv2764200 CNV gain+loss 21179565
esv29949 CNV gain 18421352
esv29997 CNV gain 17803354
esv32921 CNV gain+loss 17666407
esv3375696 CNV duplication 20981092
esv3576582 CNV gain 25503493
esv3584591 CNV loss 24956385
esv3585521 CNV loss 21293372
esv3585522 CNV gain 21293372
nsv1010001 CNV gain 25217958
nsv1077261 CNV deletion 25765185
nsv1077264 CNV deletion 25765185
nsv1116486 OTHER inversion 24896259
nsv1136071 CNV deletion 24896259
nsv1160536 CNV deletion 26073780
nsv232 CNV deletion 15895083
nsv433185 CNV loss 18776910
nsv442830 CNV loss 18776908
nsv482212 CNV gain 20164927
nsv498667 CNV loss 21111241
nsv499798 OTHER inversion 21111241
nsv513984 CNV gain 21397061
nsv545825 CNV loss 21841781
nsv545843 CNV loss 21841781
nsv545844 CNV loss 21841781
nsv545861 CNV gain 21841781
nsv545863 CNV loss 21841781
nsv7174 OTHER inversion 18451855
nsv7298 CNV deletion 18451855
nsv7409 CNV insertion 18451855
nsv820028 CNV gain 19587683
nsv821372 CNV deletion 20802225
nsv821617 CNV loss 15273396
nsv822143 CNV loss 20364138
nsv822154 CNV gain 20364138
nsv834469 CNV gain+loss 17160897
nsv834480 CNV gain 17160897
nsv945831 CNV duplication 23825009
nsv945832 CNV duplication 23825009
nsv945833 CNV duplication 23825009
nsv950324 CNV deletion 24416366
nsv9768 CNV gain+loss 18304495

Variation tolerance for RHD Gene

Residual Variation Intolerance Score: 99.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.07; 80.37% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RHD Gene

Blood Group Antigen Gene Mutation Database (BGMUT)
Blood Group System
Human Gene Mutation Database (HGMD)
RHD
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RHD

SNP Genotyping and Copy Number Assay Products

Disorders for RHD Gene

MalaCards: The human disease database

(27) MalaCards diseases for RHD Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
retinohepatoendocrinologic syndrome
  • rhe syndrome
hereditary spherocytosis
  • spherocytosis, type 1
hair whorl
  • cowlick; crown
congenital dyserythropoietic anemia
  • cda
hereditary elliptocytosis
  • congenital elliptocytosis
- elite association - COSMIC cancer census association via MalaCards
Search RHD in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RHD

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with RHD: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RHD Gene

Publications for RHD Gene

  1. RHD gene polymorphism among RhD-negative Han Chinese. (PMID: 14570619) Xu Q … Si G (Chinese medical journal 2003) 3 23 41
  2. Prenatal RHD gene determination and dosage analysis by PCR: clinical evaluation. (PMID: 11288127) Chan FY … Hyland CA (Prenatal diagnosis 2001) 3 23 41
  3. Rh(D) antigen expression and isolation of a new Rh(D) cDNA isoform in human erythroleukemic K562 cells. (PMID: 8080999) Suyama K … Goldstein J (Blood 1994) 3 4 23
  4. Molecular cloning and primary structure of the human blood group RhD polypeptide. (PMID: 1438298) Le van Kim C … Colin Y (Proceedings of the National Academy of Sciences of the United States of America 1992) 3 4 23
  5. Non-invasive foetal RHD genotyping via real-time PCR of foetal DNA from Chinese RhD-negative maternal plasma. (PMID: 19545247) Wang XD … He ZM (European journal of clinical investigation 2009) 3 41

Products for RHD Gene

Sources for RHD Gene