Homo sapiens Gene: RHCE
Summary
InnateDB Gene IDBG-94329.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RHCE
Gene Name Rh blood group, CcEe antigens
Synonyms CD240CE; RH; RH30A; Rh4; RHC; RHE; RhIVb(J); RHIXB; RHPI; RhVI; RhVIII
Species Homo sapiens
Ensembl Gene ENSG00000188672
Encoded Proteins
Rh blood group, CcEe antigens
Rh blood group, CcEe antigens
Rh blood group, CcEe antigens
Rh blood group, CcEe antigens
Rh blood group, CcEe antigens
Rh blood group, CcEe antigens
Rh blood group, CcEe antigens
Rh blood group, CcEe antigens
Rh blood group, CcEe antigens
Rh blood group, CcEe antigens
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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 both the RhC and RhE antigens on a single polypeptide and a second gene which encodes the RhD protein. 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. A mutation in this gene results in amorph-type Rh-null disease. Alternative splicing of this gene results in four transcript variants encoding four different isoforms. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:25362249-25430192
Strand Reverse strand
Band p36.11
Transcripts
ENST00000294413 ENSP00000294413
ENST00000243186 ENSP00000243186
ENST00000349438 ENSP00000334570
ENST00000340849 ENSP00000345084
ENST00000346452 ENSP00000344485
ENST00000349320 ENSP00000311185
ENST00000374352 ENSP00000363472
ENST00000413854 ENSP00000415417
ENST00000495048
ENST00000527747 ENSP00000431741
ENST00000527187
ENST00000533771 ENSP00000435401
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0008519 ammonium transmembrane transporter activity
Biological Process
GO:0015696 ammonium transport
GO:0072488 ammonium transmembrane transport
Cellular Component
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
Orthologs
No orthologs found for this gene
Cross-References
SwissProt
TrEMBL B6ZCF7 Q5VSJ7 Q9UEC6 Q9UP89 W6B6B2
UniProt Splice Variant
Entrez Gene 6006
UniGene Hs.523054
RefSeq NM_138617 NM_020485 NM_138616 NM_138618
HUGO HGNC:10008
OMIM 111700
CCDS CCDS30636 CCDS30634 CCDS30635 CCDS30637
HPRD 00200
IMGT
EMBL AB016502 AF056967 AL031284 AL928711 FM866414 FR692355 KF861928
GenPept AAC18094 AHI62999 BAA36696 CAS02276 CBX23453
RNA Seq Atlas 6006