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Rhd Gene Detail
Summary
  • Symbol
    Rhd
  • Name
    Rh blood group, D antigen
  • Synonyms
    Rh, Rhced, Rhl1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1202882
    NCBI Gene: 19746
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:134591875-134623483 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 67.13 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1215 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1202882
 protein coding gene Chr4:134591847-134623483 (+)
129S1/SvImJ MGP_129S1SvImJ_G0028935
 protein coding gene Chr4:137245099-137283229 (+)
A/J MGP_AJ_G0028894
 protein coding gene Chr4:131471764-131503880 (+)
AKR/J MGP_AKRJ_G0028846
 protein coding gene Chr4:135250894-135281992 (+)
BALB/cJ MGP_BALBcJ_G0028918
 protein coding gene Chr4:132119726-132157226 (+)
C3H/HeJ MGP_C3HHeJ_G0028632
 protein coding gene Chr4:135490149-135527642 (+)
C57BL/6NJ MGP_C57BL6NJ_G0029359
 protein coding gene Chr4:142189668-142228143 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0026630
 protein coding gene Chr4:124525533-124557051 (+)
CAST/EiJ MGP_CASTEiJ_G0028064
 protein coding gene Chr4:133623517-133656581 (+)
CBA/J MGP_CBAJ_G0028597
 protein coding gene Chr4:145963089-146002708 (+)
DBA/2J MGP_DBA2J_G0028746
 protein coding gene Chr4:131888915-131925346 (+)
FVB/NJ MGP_FVBNJ_G0028713
 protein coding gene Chr4:130802380-130836255 (+)
LP/J MGP_LPJ_G0028845
 protein coding gene Chr4:137354965-137391051 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0028739
 protein coding gene Chr4:150408767-150440535 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0029397
 protein coding gene Chr4:135693691-135726388 (+)
PWK/PhJ MGP_PWKPhJ_G0027784
 protein coding gene Chr4:128635964-128673816 (+)
SPRET/EiJ MGP_SPRETEiJ_G0027610
 protein coding gene Chr4:131518213-131554395 (+)
WSB/EiJ MGP_WSBEiJ_G0028142
 protein coding gene Chr4:135863647-135899069 (+)



Homology
more
  • Human Ortholog
    RHCE, Rh blood group CcEe antigens
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    RHCE, Rh blood group CcEe antigens
  • Synonyms
    CD240CE, RH, RH30A, Rh4, RHC, RHCe(152N), RHE, RhIVb(J), RHIXB, RHNA, RHPI, RhVI, RhVIII, SLC42A4
  • Links
    NCBI Gene ID: 6006
    neXtProt AC: NX_P18577
    UniProt: P18577

  • Chr Location
    1p36.11; chr1:25362249-25430203 (-)  GRCh38
  • Human Ortholog
    RHD, Rh blood group D antigen
  • Synonyms
    CD240D, DIIIc, HDFNRH, RH, RH30, Rh4, RHCED, RhDCw, RHDel, RHDVA(TT), RhII, RhK562-II, RhPI, RHPII, RHXIII, SLC42A5
  • Links
    NCBI Gene ID: 6007
    neXtProt AC: NX_Q02161
    UniProt: Q02161

  • Chr Location
    1p36.11; chr1:25272393-25330445 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human RHD associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    5 phenotypes from 1 allele in 1 genetic background
    4 phenotypes from multigenic genotypes
    14 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele exhibit decreased ammonium and methylammonium transport in red cell ghosts, reduced basal adhesion of red blood cells to endothelial cells, and a slight increase in iron levels.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    12
  • GO References
    7
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    841
  • Tissues
    112
  • cDNA Data
    25
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 19746 NCBI Gene Model | MGI Sequence Detail 31609 C57BL/6J ±  kb
    transcript NR_188963 RefSeq | MGI Sequence Detail 1573 C57BL/6  
    polypeptide Q8CF94 UniProt | EBI | MGI Sequence Detail 418 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • InterPro Domains
      IPR024041 Ammonium transporter AmtB-like domain
      IPR029020 Ammonium/urea transporter
      IPR002229 Blood group Rhesus C/E/D polypeptide
    • GlyGen
      Q8CF94 1 site, 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 30
      Genomic 2
      cDNA 25
      Primer pair 1
      Other 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1888985
    References
    more
    • Summaries
      All 46
      Developmental Gene Expression 4
      Diseases 1
      Gene Ontology 7
      Phenotypes 14
    • Earliest
      J:49131 Kitano T, et al., Conserved evolution of the Rh50 gene compared to its homologous Rh blood group gene. Biochem Biophys Res Commun. 1998 Aug 10;249(1):78-85
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory