RHBG (Rh family B glycoprotein)

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Gene Gene ontology Other IDs Protein Pathways Associated diseases Diseases linked via similar genes

Gene

• Entrez ID: 57127
• Gene name: Rh family B glycoprotein
• Gene symbol: RHBG
• Synonyms (NCBI Gene): SLC42A2
• Chromosome: 1
• Chromosome location: 1q22
• Summary: This gene encodes one of two non-erythroid members of the Rhesus (Rh) protein family. Non-erythroid Rh protein family members are mainly expressed in the kidney and belong to the methylammonium-ammonium permease/ammonia transporters superfamily. All Rh fa

Gene ontology (GO) Show/Hide all (27)

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	11024028, 15929723
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	15611082
GO:0005886	Component	Plasma membrane	TAS
GO:0008519	Function	Ammonium channel activity	IBA
GO:0008519	Function	Ammonium channel activity	IDA	15929723, 18032481, 18635543, 24077989
GO:0008519	Function	Ammonium channel activity	IEA
GO:0008519	Function	Ammonium channel activity	ISS
GO:0008519	Function	Ammonium channel activity	TAS
GO:0014731	Component	Spectrin-associated cytoskeleton	IMP	18635543
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IDA	15611082, 18635543
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	ISS	12595489
GO:0030506	Function	Ankyrin binding	IEA
GO:0030506	Function	Ankyrin binding	IPI	15611082
GO:0035378	Process	Carbon dioxide transmembrane transport	IEA
GO:0035379	Function	Carbon dioxide transmembrane transporter activity	IDA	24077989
GO:0035379	Function	Carbon dioxide transmembrane transporter activity	IEA
GO:0070634	Process	Transepithelial ammonium transport	IDA	18032481
GO:0072488	Process	Ammonium transmembrane transport	IBA
GO:0072488	Process	Ammonium transmembrane transport	IDA	15929723, 18032481, 18635543
GO:0072488	Process	Ammonium transmembrane transport	IEA
GO:0072488	Process	Ammonium transmembrane transport	ISS
GO:0097272	Process	Ammonium homeostasis	IBA

Other IDs

• MIM: 607079
• HGNC: 14572
• e!Ensembl: ENSG00000132677

Protein

• UniProt ID: Q9H310
• Protein name: Ammonium transporter Rh type B (Rhesus blood group family type B glycoprotein) (Rh family type B glycoprotein) (Rh type B glycoprotein)
• Protein function: Ammonium transporter involved in the maintenance of acid-base homeostasis. Transports ammonium and its related derivative methylammonium across the basolateral plasma membrane of epithelial cells likely contributing to renal transepithelial ammo
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00909	Ammonium_transp	25 → 420	Ammonium Transporter Family	Family

• Tissue specificity: TISSUE SPECIFICITY: Specifically expressed in kidney. Also detected in liver and ovary. {ECO:0000269|PubMed:11024028}.
• Sequence:

  MAGSPSRAAGRRLQLPLLCLFLQGATAVLFAVFVRYNHKTDAALWHRSNHSNADNEFYFR
  YPSFQDVHAMVFVGFGFLMVFLQRYGFSSVGFTFLLAAFALQWSTLVQGFLHSFHGGHIH
  VGVESMINADFCAGAVLISFGAVLGKTGPTQLLLMALLEVVLFGINEFVLLHLLGVRDAG
  GSMTIHTFGAYFGLVLSRVLYRPQLEKSKHRQGSVYHSDLFAMIGTIFLWIFWPSFNAAL
  TALGAGQHRTALNTYYSLAASTLGTFALSALVGEDGRLDMVHIQNAALAGGVVVGTSSEM
  MLTPFGALAAGFLAGTVSTLGYKFFTPILESKFKVQDTCGVHNLHGMPGVLGALLGVLVA
  GLATHEAYGDGLESVFPLIAEGQRSATSQAMHQLFGLFVTLMFASVGGGLGGLLLKLPFL
  DSPPRLPALRGPSSLAGAWRA

• Sequence length: 441

Pathways

Reactome Pathway:

Rhesus glycoproteins mediate ammonium transport.

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinogenesis	Carcinogenesis	Pubtator	26029888	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	26029888	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	36037157	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

No strongly related genes found yet for RHBG.

Diseases Linked via Similar Genes

No additional diseases found yet through genes similar to RHBG.