Human Gene RHD (ENST00000423810.6) from GENCODE V44
  Description: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt E7EVW1)
RefSeq Summary (NM_001282872): 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].
Gencode Transcript: ENST00000423810.6
Gencode Gene: ENSG00000187010.21
Transcript (Including UTRs)
   Position: hg38 chr1:25,272,548-25,329,211 Size: 56,664 Total Exon Count: 10 Strand: +
Coding Region
   Position: hg38 chr1:25,272,548-25,317,052 Size: 44,505 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:25,272,548-25,329,211)mRNA (may differ from genome)Protein (431 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblExonPrimerGencodeGeneCardsHGNC
LynxMalacardsMGIPubMedUniProtKBWikipedia

-  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.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  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

-  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
3' UTR -83.20341-0.244 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

ModBase Predicted Comparative 3D Structure on E7EVW1
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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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  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.
MF737522 - Homo sapiens Rh blood group D antigen (RHD) mRNA, RHD-1056C>G allele, complete cds.
MF737523 - Homo sapiens Rh blood group D antigen (RHD) mRNA, RHD-1016G>T 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.
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.
MT374823 - Homo sapiens Rh blood group antigen (RHD) mRNA, RHD*17T,1136T variant 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.
MT431642 - Homo sapiens Rh blood group antigen (RHD) mRNA, RHD*319T,712A variant allele, complete 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.

-  Other Names for This Gene
  Alternate Gene Symbols: AY751496, E7EVW1, E7EVW1_HUMAN, ENST00000423810.1, ENST00000423810.2, ENST00000423810.3, ENST00000423810.4, ENST00000423810.5, uc001bkb.1, uc001bkb.2, uc001bkb.3, uc001bkb.4, uc001bkb.5
UCSC ID: ENST00000423810.6
RefSeq Accession: NM_001282872
Protein: E7EVW1 CCDS: CCDS60027.1

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