Human Gene RHD (uc001bkb.3) Description and Page Index
  Description: Homo sapiens Rh blood group, D antigen (RHD), transcript variant 1, mRNA.
RefSeq Summary (NM_001127691): 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].
Transcript (Including UTRs)
   Position: hg19 chr1:25,598,981-25,656,936 Size: 57,956 Total Exon Count: 10 Strand: +
Coding Region
   Position: hg19 chr1:25,599,039-25,643,543 Size: 44,505 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:25,598,981-25,656,936)mRNA (may differ from genome)Protein (431 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
HGNCLynxMGIOMIMPubMedStanford SOURCE
TreefamUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: E7EVW1_HUMAN
DESCRIPTION: SubName: Full=Blood group Rh(D) polypeptide;
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): RHD
CDC HuGE Published Literature: RHD
Positive Disease Associations: schizophrenia
Related Studies:
  1. schizophrenia
    Palmer, C. G. et al. 2002, RHD Maternal-Fetal Genotype Incompatibility Increases Schizophrenia Susceptibility, American journal of human genetics. 2002 Dec;71(6):1312-9. [PubMed 12439825]
    Our results replicate previous findings that implicate the RHD locus in schizophrenia, and the candidate-gene design of this study allows the elimination of alternative explanations for the role of this locus in disease. Thus, the present study provides increasing evidence that the RHD locus increases schizophrenia risk through a maternal-fetal genotype incompatibility mechanism that increases risk of an adverse prenatal environment (e.g., Rh incompatibility) rather than through linkage/association with the disorder, linkage disequilibrium with an unknown nearby susceptibility locus, or a direct maternal effect alone. This is the first candidate-gene study to explicitly test for and provide evidence of a maternal-fetal genotype incompatibility mechanism in schizophrenia.

-  MalaCards Disease Associations
  MalaCards Gene Search: RHD
Diseases sorted by gene-association score: anemia, hemolytic, rh-null, regulator type* (247), skeletal muscle cancer (17), congenital dyserythropoietic anemia (12), hereditary spherocytosis (12), fetal erythroblastosis (12), rh isoimmunization (10), blood group incompatibility (9), rh deficiency syndrome (8), muscle cancer (7), toxoplasmosis (6), typhoid fever (6), autoimmune disease of blood (4), thalassemia, hispanic gamma-delta-beta (4), coccidiosis (4), rhabdomyosarcoma 2, alveolar (4), malaria (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1.12 RPKM in Minor Salivary Gland
Total median expression: 10.33 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -15.9058-0.274 Picture PostScript Text
3' UTR -454.421575-0.289 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR024041 - NH4_transpt_AmtB-like
IPR002229 - RhesusRHD

Pfam Domains:
PF00909 - Ammonium Transporter Family

SCOP Domains:
111352 - Ammonium ransporter (Pfam 00909)

ModBase Predicted Comparative 3D Structure on E7EVW1
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0008519 ammonium transmembrane transporter activity

Biological Process:
GO:0015696 ammonium transport
GO:0072488 ammonium transmembrane transport

Cellular Component:
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AK297151 - Homo sapiens cDNA FLJ60674 complete cds, highly similar to Blood group Rh(D) polypeptide.
JD192256 - Sequence 173280 from Patent EP1572962.
MF737522 - Homo sapiens Rh blood group D antigen (RHD) mRNA, RHD-1056C>G allele, complete cds.
X63094 - H.sapiens mRNA for rhesus polypeptide (RhII).
JQ424879 - Homo sapiens blood group Rh(D) polypeptide isoform 3 (RHD) mRNA, RHD-Del allele, complete cds.
LP895702 - Sequence 566 from Patent EP3253886.
JD064307 - Sequence 45331 from Patent EP1572962.
BC139922 - Homo sapiens Rh blood group, D antigen, mRNA (cDNA clone MGC:165007 IMAGE:40148684), complete cds.
AF510069 - Homo sapiens Rhesus blood group D antigen D(667) variant mRNA, complete cds.
AF510070 - Homo sapiens Rhesus blood group D antigen D(674) variant mRNA, complete cds.
AF312679 - Homo sapiens rhesus D category VI type IV protein (RHD) mRNA, complete cds.
Z97026 - Homo sapiens mRNA for rhesus D category VI type III protein.
DQ451878 - Homo sapiens Rhesus blood group D antigen (RHD) mRNA, RHD-Del(L18P) allele, complete cds.
X63097 - H.sapiens mRNA for rhesus polypeptide (RhXIII).
BC160075 - Synthetic construct Homo sapiens clone IMAGE:100064011, MGC:193190 Rh blood group, D antigen (RHD) mRNA, encodes complete protein.
KX584096 - Homo sapiens clone 13-091 RHD-TMEM50A fusion gene, partial sequence.
S73913 - Rh D=RhK562-II [human, erythroleukemic cells, K562, mRNA Partial, 951 nt].
AF037626 - Homo sapiens truncated RhD (RHD mutant) mRNA, complete cds.
AJ704215 - Homo sapiens partial RHD gene for Rhesus blood group D antigen, weak D allele new variant.
AY449381 - Homo sapiens rhesus blood group D antigen DFE mRNA, partial cds.
AY449382 - Homo sapiens rhesus blood group D antigen DLO mRNA, partial cds.
AY449383 - Homo sapiens rhesus blood group D antigen DLA mRNA, partial cds.
AY449384 - Homo sapiens rhesus blood group D antigen DRO mRNA, partial cds.
AY449385 - Homo sapiens rhesus blood group D antigen DBA mRNA, partial cds.
S57971 - Rh polypeptide II {clone RhPII} [human, erythroid cells, mRNA Partial, 1251 nt].
AB018966 - Homo sapiens RhDVa(FK) mRNA for Rh blood group D antigen (RhD), complete cds.
AB018967 - Homo sapiens RhDVa(TO) mRNA for Rh blood group D antigen (RHD), complete cds.
AB018968 - Homo sapiens RhDVa(TT) mRNA for Rh blood group D antigen (RHD), complete cds.
AB018969 - Homo sapiens RhDYO mRNA for Rh blood group D antigen (RHD), complete cds.
AB037270 - Homo sapiens RhIVb(J) mRNA for Rh blood group antigen RhD, complete cds.
AB046420 - Homo sapiens RhDTI mRNA for Rh blood group D antigen, complete cds.
AF177938 - Homo sapiens Rh blood group antigen Evans mRNA, complete cds.
AM183924 - Homo sapiens mRNA for Rhesus blood group D antigen (RHD gene), allele weak D.
HE657775 - Homo sapiens mRNA for rhesus blood group D antigen variant (RHD gene), allele RHD-RHCE(7)-RHD.
JQ065733 - Homo sapiens rhesus D (RhD) mRNA, complete cds.
KT240043 - Homo sapiens RhD blood group antigen (RHD) mRNA, RHD*668 allele, complete cds.
KX216809 - Homo sapiens Rh blood group CcEe antigen (RHD) mRNA, RHD*weak partial 4.0 (594T) allele, complete cds.
KX578899 - Homo sapiens Rh blood group D antigen (RHD) mRNA, complete cds.
KY652756 - Homo sapiens Rh blood group antigen (RHCE) mRNA, RHCE*ce-D(4-7)-ce allele, complete cds.
KY680215 - Homo sapiens Rh blood group antigen (RHD) mRNA, RHD*787_788delinsTT,1136T variant allele, complete cds.
KY680216 - Homo sapiens Rh blood group antigen (RHD) mRNA, RHD*761T,1136T variant allele, complete cds.
KY926704 - Homo sapiens Rh blood group antigen (RHD) mRNA, RHD*520A,919A variant allele, complete cds.
KY926709 - Homo sapiens Rh blood group antigen (RHD) mRNA, RHD-ceAG.05(2)-D variant allele, complete cds.
LN714468 - Homo sapiens mRNA for human blood group antigen D (RHD gene), allele RHD T251P.
MF996375 - Homo sapiens RhD (RHD) mRNA, RHD1022*A allele, complete cds.
MG496271 - Homo sapiens nonfunctional RhD (RHD) mRNA, RHD-697delG allele, complete sequence.
MG496272 - Homo sapiens nonfunctional RhD (RHD) mRNA, RHD-CE2-RHD702delG allele, complete sequence.
MH844560 - Homo sapiens Rh blood group antigen (RHD) mRNA, RHD*712A,1048C variant allele, complete cds.
S70174 - RhD=Rh blood group system D-antigen {exons 7-9 deletion} [human, CML K562 cells, mRNA Partial Mutant, 966 nt].
S82449 - Homo sapiens D category IIIc antigen (RHD) mRNA, partial cds.
S78509 - RhD [human, D--phenotype, erythrocyte, mRNA Partial, 1260 nt].
LC053447 - Homo sapiens RHD mRNA for RhD polypeptide, complete cds.
JF436967 - Homo sapiens Rhesus blood group D antigen allele DIII type 7 (RHD) mRNA, complete cds.
JN635688 - Homo sapiens rhesus blood group D antigen (RHD) mRNA, RHD-D186T allele, complete cds.
JN635689 - Homo sapiens rhesus blood group D antigen (RHD) mRNA, RHD-DIIIa150C allele, complete cds.
AB049754 - Homo sapiens RHD mRNA for Rh blood D group antigen polypeptide, complete cds.
FR745438 - Homo sapiens mRNA for rhesus blood group, D antigen (RHD gene), weak D allele, isolate 547-2010.
FR745439 - Homo sapiens mRNA for rhesus blood group, D antigen (RHD gene), weak D allele A116V, isolate 508-2010.
FR745440 - Homo sapiens mRNA for rhesus blood group, D antigen (RHD gene), allele G308X, isolate 520-2010.
FR745441 - Homo sapiens mRNA for rhesus blood group, D antigen (RHD gene), weak D allele A273E, isolate 389-2010.
L08429 - Human RhD blood group antigen mRNA, complete cds.
LN824132 - Homo sapiens mRNA for Rh blood group, D antigen (RHD gene), isolate 43-2015, allele RHD R10L.
AF187846 - Homo sapiens RhD type IIIa protein mRNA, complete cds.
AY751491 - Homo sapiens isolate Del789 Rhesus blood group D antigen isoform 1 (RHD) mRNA, RHD-1227A allele, complete cds, alternatively spliced.
AY751492 - Homo sapiens isolate Del79 Rhesus blood group D antigen isoform 2 (RHD) mRNA, RHD-1227A allele, complete cds, alternatively spliced.
AY751493 - Homo sapiens isolate Del89 Rhesus blood group D antigen isoform 3 (RHD) mRNA, RHD-1227A allele, complete cds, alternatively spliced.
AY751494 - Homo sapiens isolate Del9 Rhesus blood group D antigen isoform 3 (RHD) mRNA, RHD-1227A allele, complete cds, alternatively spliced.
AY751495 - Homo sapiens isolate Del89+170 Rhesus blood group D antigen isoform 3 (RHD) mRNA, RHD-1227A allele, complete cds, alternatively spliced.
AY751496 - Homo sapiens isolate Del9+170 Rhesus blood group D antigen isoform 3 (RHD) mRNA, RHD-1227A allele, complete cds, alternatively spliced.
EU557241 - Homo sapiens truncated RHD mRNA, complete cds.
EU557240 - Homo sapiens RHD mRNA, complete cds.
EU661906 - Homo sapiens clone 3 truncated Rhesus blood group D antigen (RHD) mRNA, complete cds.
EU661905 - Homo sapiens clone 2 truncated Rhesus blood group D antigen (RHD) mRNA, complete cds.
KX584098 - Homo sapiens clone 20030 RHD (RHD) mRNA, exons 2 through 5 and partial cds.
FN555129 - Homo sapiens partial mRNA for truncated rhesus blood group D antigen (RHD gene), Y269X allele, isolate 269/2009.
EU661907 - Homo sapiens clone 4 truncated Rhesus blood group D antigen (RHD) mRNA, complete cds.
KX619611 - Homo sapiens clone 13-091 Rh blood group D antigen splice variant (RHD) mRNA, partial cds.
JD550505 - Sequence 531529 from Patent EP1572962.
JD245554 - Sequence 226578 from Patent EP1572962.
JD251171 - Sequence 232195 from Patent EP1572962.
JD355296 - Sequence 336320 from Patent EP1572962.
JD273916 - Sequence 254940 from Patent EP1572962.
JD335037 - Sequence 316061 from Patent EP1572962.
DQ583913 - Homo sapiens piRNA piR-51025, complete sequence.
JD223337 - Sequence 204361 from Patent EP1572962.
JD566888 - Sequence 547912 from Patent EP1572962.
JD087079 - Sequence 68103 from Patent EP1572962.
JD262082 - Sequence 243106 from Patent EP1572962.
JD165235 - Sequence 146259 from Patent EP1572962.
JD560958 - Sequence 541982 from Patent EP1572962.
JD542923 - Sequence 523947 from Patent EP1572962.
JD256790 - Sequence 237814 from Patent EP1572962.
JD407580 - Sequence 388604 from Patent EP1572962.
JD213093 - Sequence 194117 from Patent EP1572962.
JD371287 - Sequence 352311 from Patent EP1572962.
JD337598 - Sequence 318622 from Patent EP1572962.
JD463119 - Sequence 444143 from Patent EP1572962.
JD533858 - Sequence 514882 from Patent EP1572962.
JD322169 - Sequence 303193 from Patent EP1572962.
JD426714 - Sequence 407738 from Patent EP1572962.
JD489023 - Sequence 470047 from Patent EP1572962.
JD513865 - Sequence 494889 from Patent EP1572962.
JD513864 - Sequence 494888 from Patent EP1572962.
JD513863 - Sequence 494887 from Patent EP1572962.
JD414795 - Sequence 395819 from Patent EP1572962.
JD120552 - Sequence 101576 from Patent EP1572962.
JD379648 - Sequence 360672 from Patent EP1572962.
JD311765 - Sequence 292789 from Patent EP1572962.
JD053880 - Sequence 34904 from Patent EP1572962.
JD503932 - Sequence 484956 from Patent EP1572962.
JD566780 - Sequence 547804 from Patent EP1572962.
JD491931 - Sequence 472955 from Patent EP1572962.
JD416260 - Sequence 397284 from Patent EP1572962.
JD299448 - Sequence 280472 from Patent EP1572962.
JD563320 - Sequence 544344 from Patent EP1572962.
JD430724 - Sequence 411748 from Patent EP1572962.
JD145566 - Sequence 126590 from Patent EP1572962.
JD448711 - Sequence 429735 from Patent EP1572962.
JD282743 - Sequence 263767 from Patent EP1572962.
JD093263 - Sequence 74287 from Patent EP1572962.
JD308034 - Sequence 289058 from Patent EP1572962.
JD346281 - Sequence 327305 from Patent EP1572962.
MF737523 - Homo sapiens Rh blood group D antigen (RHD) mRNA, RHD-1016G>T allele, complete cds.
MK542002 - Homo sapiens RhD (RHD) mRNA, RHD*431C allele, complete cds.
MK542003 - Homo sapiens RhD (RHD) mRNA, RHD*1250G allele, complete cds.
MK981889 - Homo sapiens Rhesus blood group D antigen (RHD) mRNA, RHD*526C allele, complete cds.
MK981890 - Homo sapiens Rhesus blood group D antigen (RHD) mRNA, RHD*1151G allele, complete cds.

-  Other Names for This Gene
  Alternate Gene Symbols: AY751496, E7EVW1, E7EVW1_HUMAN, NM_001127691, NP_001121163
UCSC ID: uc001bkb.3
RefSeq Accession: NM_001127691
Protein: E7EVW1 CCDS: CCDS60027.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AY751496.1
exon count: 10CDS single in 3' UTR: no RNA size: 1637
ORF size: 1296CDS single in intron: no Alignment % ID: 99.88
txCdsPredict score: 2255.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.