RHAG (Rh associated glycoprotein)

Gene

• Entrez ID: 6005
• Gene name: Rh associated glycoprotein
• Gene symbol: RHAG
• Synonyms: CD241, OHS, OHST, RH2, RH50A, RHNR, Rh50, Rh50GP, SLC42A1
• Chromosome: 6
• Chromosome location: 6p12.3
• Summary: The protein encoded by this gene is erythrocyte-specific and is thought to be part of a membrane channel that transports ammonium and carbon dioxide across the blood cell membrane. The encoded protein appears to interact with Rh blood group antigens and R

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs16879498	C>T	Pathogenic, benign	Missense variant, genic downstream transcript variant, coding sequence variant
rs104893987	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs121918586	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs121918587	C>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121918588	C>A	Pathogenic	Initiator codon variant, missense variant
rs121918589	C>A,T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs375508949	C>T	Pathogenic	Splice donor variant
rs387906519	GAGG>TC	Pathogenic	Frameshift variant, coding sequence variant
rs863225468	A>G	Pathogenic	Coding sequence variant, missense variant
rs863225469	A>C	Pathogenic	Coding sequence variant, missense variant
rs1554174425	A>C,G	Pathogenic	Missense variant, coding sequence variant, synonymous variant
rs1562011389	T>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1562012617	C>T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1562012697	C>T	Pathogenic	Splice acceptor variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019341	hsa-miR-148b-3p	Microarray	17612493
MIRT053366	hsa-miR-9-5p	Microarray, qRT-PCR	23798388
MIRT1304646	hsa-miR-193a-3p	CLIP-seq
MIRT1304647	hsa-miR-193b	CLIP-seq
MIRT1304648	hsa-miR-3122	CLIP-seq
MIRT1304649	hsa-miR-3187-3p	CLIP-seq
MIRT1304650	hsa-miR-3913-5p	CLIP-seq
MIRT1304651	hsa-miR-4529-5p	CLIP-seq
MIRT1304652	hsa-miR-4668-3p	CLIP-seq
MIRT2315027	hsa-miR-1253	CLIP-seq
MIRT1304648	hsa-miR-3122	CLIP-seq
MIRT2315028	hsa-miR-3690	CLIP-seq
MIRT1304650	hsa-miR-3913-5p	CLIP-seq
MIRT2315029	hsa-miR-4254	CLIP-seq
MIRT2315030	hsa-miR-4434	CLIP-seq
MIRT2315031	hsa-miR-4516	CLIP-seq
MIRT2315032	hsa-miR-4531	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005886	Component	Plasma membrane	IDA	15929723
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0006873	Process	Cellular ion homeostasis	IDA	15856280
GO:0008519	Function	Ammonium transmembrane transporter activity	IBA	21873635
GO:0008519	Function	Ammonium transmembrane transporter activity	IDA	15856280, 15929723, 16866382, 17712059, 19273840
GO:0008519	Function	Ammonium transmembrane transporter activity	IGI	11062476
GO:0008519	Function	Ammonium transmembrane transporter activity	TAS
GO:0015670	Process	Carbon dioxide transport	IDA	16574458, 17712059, 19273840
GO:0015696	Process	Ammonium transport	IDA	15856280, 15929723, 16574458, 16866382, 17712059, 19273840
GO:0015696	Process	Ammonium transport	IGI	11062476
GO:0015701	Process	Bicarbonate transport	TAS
GO:0016020	Component	Membrane	IDA	22012326
GO:0022840	Function	Leak channel activity	IDA	18931342
GO:0030506	Function	Ankyrin binding	IPI	12719424, 16580865
GO:0035378	Process	Carbon dioxide transmembrane transport	IEA
GO:0035379	Function	Carbon dioxide transmembrane transporter activity	TAS
GO:0072488	Process	Ammonium transmembrane transport	IBA	21873635
GO:0072488	Process	Ammonium transmembrane transport	IMP	22012326
GO:0098662	Process	Inorganic cation transmembrane transport	IDA	18931342

Other IDs

• MIM: 180297
• HGNC: 10006
• e!Ensembl: ENSG00000112077

Protein

• UniProt ID: Q02094
• Protein name: Ammonium transporter Rh type A (Erythrocyte membrane glycoprotein Rh50) (Erythrocyte plasma membrane 50 kDa glycoprotein) (Rh50A) (Rhesus blood group family type A glycoprotein) (Rh family type A glycoprotein) (Rh type A glycoprotein) (Rhesus blood group-
• Protein function: Component of the ankyrin-1 complex, a multiprotein complex involved in the stability and shape of the erythrocyte membrane (PubMed:35835865). Heterotrimer with RHCE (RHAG)2(RHCE), that transports ammonium and its related derivative methylammoniu
• PDB: 7UZQ, 7V0K, 7V0S, 8CRT, 8CS9, 8CSL, 8CSX, 8CTE
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00909	Ammonium_transp	15 → 402	Ammonium Transporter Family	Family

• Sequence:

  MRFTFPLMAIVLEIAMIVLFGLFVEYETDQTVLEQLNITKPTDMGIFFELYPLFQDVHVM
  IFVGFGFLMTFLKKYGFSSVGINLLVAALGLQWGTIVQGILQSQGQKFNIGIKNMINADF
  SAATVLISFGAVLGKTSPTQMLIMTILEIVFFAHNEYLVSEIFKASDIGASMTIHAFGAY
  FGLAVAGILYRSGLRKGHENEESAYYSDLFAMIGTLFLWMFWPSFNSAIAEPGDKQCRAI
  VNTYFSLAACVLTAFAFSSLVEHRGKLNMVHIQNATLAGGVAVGTCADMAIHPFGSMIIG
  SIAGMVSVLGYKFLTPLFTTKLRIHDTCGVHNLHGLPGVVGGLAGIVAVAMGASNTSMAM
  QAAALGSSIGTAVVGGLMTGLILKLPLWGQPSDQNCYDDSVYWKVPKTR

• Sequence length: 409

Pathways

Reactome:

Erythrocytes take up carbon dioxide and release oxygen
Erythrocytes take up oxygen and release carbon dioxide
Rhesus glycoproteins mediate ammonium transport.
Defective RHAG causes regulator type Rh-null hemolytic anemia (RHN)

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Anemia	Anemia, Hemolytic, stomatocytic anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505	9716608, 18931342
Hyperbilirubinemia	Hyperbilirubinemia, Unconjugated hyperbilirubinemia	rs34993780, rs587784535, rs797046090, rs797046091
Overhydrated hereditary stomatocytosis	Overhydrated hereditary stomatocytosis	rs121918587, rs863225468, rs863225469, rs1554174425

Unknown
Disease name	Disease term	dbSNP ID	References
Rh deficiency syndrome	Rh Deficiency Syndrome		8563755, 9716608
Stomatocytosis	STOMATOCYTOSIS I		23664421, 9716608, 18931342, 22012326, 21849667