Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6005
Gene name	Rh associated glycoprotein
Gene symbol	RHAG
Synonyms (NCBI Gene)	CD241OHSOHSTRH2RH50ARHNRRh50Rh50GPSLC42A1
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

Show/Hide all (14)

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

Show/Hide all (17)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019341	hsa-miR-148b-3p	Microarray	17612493
MIRT053366	hsa-miR-9-5p	MicroarrayqRT-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

Show/Hide all (37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	15929723, 27247322
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	1417776
GO:0006873	Process	Intracellular monoatomic ion homeostasis	IDA	15856280
GO:0008519	Function	Ammonium channel activity	IBA
GO:0008519	Function	Ammonium channel activity	IDA	15856280, 15929723, 16866382, 17712059, 19273840, 24077989, 26354748
GO:0008519	Function	Ammonium channel activity	IEA
GO:0008519	Function	Ammonium channel activity	IGI	11062476
GO:0008519	Function	Ammonium channel activity	TAS
GO:0015200	Function	Methylammonium transmembrane transporter activity	IDA	15856280
GO:0015200	Function	Methylammonium transmembrane transporter activity	IEA
GO:0015670	Process	Carbon dioxide transport	IDA	16574458, 17712059, 19273840, 24077989
GO:0015701	Process	Bicarbonate transport	TAS
GO:0016020	Component	Membrane	IDA	22012326
GO:0016020	Component	Membrane	IEA
GO:0022840	Function	Leak channel activity	IDA	18931342
GO:0030506	Function	Ankyrin binding	IEA
GO:0030506	Function	Ankyrin binding	IPI	12719424, 16580865
GO:0035378	Process	Carbon dioxide transmembrane transport	IDA	19273840
GO:0035379	Function	Carbon dioxide transmembrane transporter activity	IDA	19273840, 24077989
GO:0035379	Function	Carbon dioxide transmembrane transporter activity	IEA
GO:0035379	Function	Carbon dioxide transmembrane transporter activity	TAS
GO:0048821	Process	Erythrocyte development	IEA
GO:0060586	Process	Multicellular organismal-level iron ion homeostasis	IEA
GO:0072488	Process	Ammonium transmembrane transport	IBA
GO:0072488	Process	Ammonium transmembrane transport	IDA	11861637, 15856280, 15929723, 16574458, 16866382, 17712059, 19273840, 24077989, 26354748
GO:0072488	Process	Ammonium transmembrane transport	IEA
GO:0072488	Process	Ammonium transmembrane transport	IEA
GO:0072488	Process	Ammonium transmembrane transport	IGI	11062476
GO:0072488	Process	Ammonium transmembrane transport	IMP	22012326
GO:0072489	Process	Methylammonium transmembrane transport	IDA	15856280
GO:0072489	Process	Methylammonium transmembrane transport	IEA
GO:0097272	Process	Ammonium homeostasis	IBA
GO:0098662	Process	Inorganic cation transmembrane transport	IDA	18931342
GO:0170014	Component	Ankyrin-1 complex	IDA	35835865

MIM	HGNC	e!Ensembl
180297	10006	ENSG00000112077

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

Tissue specificity

TISSUE SPECIFICITY: Erythrocytes. {ECO:0000269|PubMed:18931342, ECO:0000269|PubMed:22012326, ECO:0000269|PubMed:9473510}.

Sequence

MRFTFPLMAIVLEIAMIVLFGLFVEYETDQTVLEQLNITKPTDMGIFFELYPLFQDVHVM
IFVGFGFLMTFLKKYGFSSVGINLLVAALGLQWGTIVQGILQSQGQKFNIGIKNMINADF
SAATVLISFGAVLGKTSPTQMLIMTILEIVFFAHNEYLVSEIFKASDIGASMTIHAFGAY
FGLAVAGILYRSGLRKGHENEESAYYSDLFAMIGTLFLWMFWPSFNSAIAEPGDKQCRAI
VNTYFSLAACVLTAFAFSSLVEHRGKLNMVHIQNATLAGGVAVGTCADMAIHPFGSMIIG
SIAGMVSVLGYKFLTPLFTTKLRIHDTCGVHNLHGLPGVVGGLAGIVAVAMGASNTSMAM
QAAALGSSIGTAVVGGLMTGLILKLPLWGQPSDQNCYDDSVYWKVPKTR

Sequence length

409

Interactions

View interactions

	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)

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Overhydrated hereditary stomatocytosis	Pathogenic; Likely pathogenic	rs863225468, rs863225469, rs121918587, rs375508949, rs1554174425	RCV000202428 RCV000202426 RCV004595881 RCV005042038 RCV000505544	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rh deficiency syndrome	Pathogenic	rs1562012617	RCV003387721	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rh mod blood group phenotype	Pathogenic	rs121918586, rs758951164	RCV000013934 RCV003448948	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rh-null, regulator type	Pathogenic; Likely pathogenic	rs387906519, rs1562011389, rs121918587, rs375508949, rs1562012697, rs1562012617, rs121918589, rs2532602718	RCV000013932 RCV000013933 RCV000013935 RCV000013936 RCV000013937 RCV000013939 RCV000013941 RCV003448949 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RHAG-related disorder	Likely pathogenic; Pathogenic	rs375508949	RCV003415695	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
altered red cell phenotype	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, HEMOLYTIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAROTID ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (34)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anemia Hemolytic	Hemolytic anemia	Pubtator	21859730, 9442063	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	BEFREE	22012326		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Hemolytic	Anemia	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	18690846		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21194832	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36916297	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	29783895		★★★★★ ★☆☆☆☆ Found in Text Mining only
Elliptocytosis 1	Hereditary elliptocytosis	Pubtator	9442063	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	10467273	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	24606425	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	18690846		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16901920, 31526853		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	18690846		★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	16378686		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18690846		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	18690846		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	32629664	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Overhydrated hereditary stomatocytosis	Overhydrated Hereditary Stomatocytosis	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rh Deficiency Syndrome	Rh Deficiency Syndrome	ORPHANET_DG	8563755, 9716608		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rh deficiency syndrome	Rh Deficiency Syndrome	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rh Deficiency Syndrome	Rh deficiency syndrome	Pubtator	9746795	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	31463778		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spherocytosis Hereditary	Spherocytosis	Pubtator	20179084, 27247322	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
stomatocytic anemia	Anemia	GENOMICS_ENGLAND_DG	18931342, 9716608		★★★★★ ★☆☆☆☆ Found in Text Mining only
stomatocytic anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
STOMATOCYTOSIS I	Stomatocytosis	GENOMICS_ENGLAND_DG	18931342, 9716608		★★★★★ ★☆☆☆☆ Found in Text Mining only
STOMATOCYTOSIS I	Stomatocytosis	UNIPROT_DG	18931342, 21849667, 22012326		★★★★★ ★☆☆☆☆ Found in Text Mining only
STOMATOCYTOSIS I	Stomatocytosis	BEFREE	22012326		★★★★★ ★☆☆☆☆ Found in Text Mining only
STOMATOCYTOSIS I	Stomatocytosis	ORPHANET_DG	23664421		★★★★★ ★☆☆☆☆ Found in Text Mining only
STOMATOCYTOSIS I	Stomatocytosis	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
STOMATOCYTOSIS I	Stomatocytosis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Unconjugated hyperbilirubinemia	Hyperbilirubinemia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Unconjugated hyperbilirubinemia	Hyperbilirubinemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

RHAG (Rh associated glycoprotein)