RHBG Rh family B glycoprotein [Homo sapiens (human)] - Gene

Summary

Official Symbol: RHBGprovided by HGNC
Official Full Name: Rh family B glycoproteinprovided by HGNC
Primary source: HGNC:HGNC:14572
See related: Ensembl:ENSG00000132677 MIM:607079; AllianceGenome:HGNC:14572
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SLC42A2
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 family proteins are predicted to be transmembrane proteins with 12 membrane spanning domains and intracytoplasmic N- and C-termini. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]
Expression: Biased expression in kidney (RPKM 4.7), ovary (RPKM 3.9) and 5 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q22

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (156369211..156385219)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (155507822..155523825)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (156339002..156355011)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Ammonia transporter RhBG initiates downstream signaling and functional responses by activating NFkappaB.
Title: Ammonia transporter RhBG initiates downstream signaling and functional responses by activating NFκB.
RHBG expression as a direct target of beta-catenin regulation.
Title: Wnt/β-Catenin Signaling Regulates the Expression of the Ammonium Permease Gene RHBG in Human Cancer Cells.
Kidney AE1 actually associates with epithelial ankyrin-G and renal ammonium transporter RhBG, which also binds ankyrin-G.
Title: Evidence of a structural and functional ammonium transporter RhBG·anion exchanger 1·ankyrin-G complex in kidney epithelial cells.
Rh B Glycoprotein (Rhbg) and Rh C Glycoprotein (Rhcg) are identified as ammonia transporters. They are expressed in specific cell populations and membrane domains in distal renal epithelial cells, where they facilitate ammonia secretion.
Title: Ammonia transport in the kidney by Rhesus glycoproteins.
RhAG, RhBG and RhCG-exhibit significant permeability to NH3 and show for the first time that RhBG and RhCG can conduct CO2.
Title: Relative CO₂/NH₃ permeabilities of human RhAG, RhBG and RhCG.
human kidney expresses basolateral RhBG protein in connecting segment, type A intercalated cells, and non-A, non-B cells
Title: Expression of the ammonia transporter family member, Rh B Glycoprotein, in the human kidney.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Rhbg and Rhcg may contribute to bronchial epithelial cell ammonia metabolism and suggest that they do not contribute to pulmonary carbon dioxide transport.
Title: Expression of the gas-transporting proteins, Rh B glycoprotein and Rh C glycoprotein, in the murine lung.
This study concludes that under normal conditions, RhCG is the major putative ammonia transporter expressed in the human kidney and RhBG is not expressed at detectable levels.
Title: RhCG is the major putative ammonia transporter expressed in the human kidney, and RhBG is not expressed at detectable levels.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D15S1477 (e-PCR)
- UniSTS:474482

RH70095 (e-PCR)
- UniSTS:89534

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ammonium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables ammonium channel activity	IDA Inferred from Direct Assay more info	PubMed
enables ammonium channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables ammonium channel activity	TAS Traceable Author Statement more info
enables ankyrin binding	IPI Inferred from Physical Interaction more info	PubMed
enables carbon dioxide transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in ammonium homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in ammonium transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in ammonium transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in ammonium transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in carbon dioxide transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in transepithelial ammonium transport	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in basolateral plasma membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in spectrin-associated cytoskeleton	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: ammonium transporter Rh type B

Names: Rhesus blood group, B glycoprotein; solute carrier family 42 member 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001256395.2 → NP_001243324.1 ammonium transporter Rh type B isoform b

See identical proteins and their annotated locations for NP_001243324.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses the same exon combination as variant 9 but represents the allele encoded by the GRCh38 reference genome. The encoded isoform (b) has a frameshifted C-terminus compared to isoform e.

Source sequence(s)

AL589685, AY139092

UniProtKB/Swiss-Prot

Q9H310

Conserved Domains (1) summary

cl03012
Location:1 → 291

Ammonium_transp; Ammonium Transporter Family
NM_001256396.2 → NP_001243325.1 ammonium transporter Rh type B isoform c

See identical proteins and their annotated locations for NP_001243325.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses the same exon combination as variant 10 but represents the allele encoded by the GRCh38 reference genome. The encoded isoform (c) has a frameshifted C-terminus compared to isoform f.

Source sequence(s)

AL589685, AY139093

UniProtKB/Swiss-Prot

Q9H310

Conserved Domains (1) summary

cl03012
Location:28 → 330

Ammonium_transp; Ammonium Transporter Family
NM_001412175.1 → NP_001399104.1 ammonium transporter Rh type B isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (8) uses the same exon combination as variant 1 but represents the allele encoded by the T2T-CHM13v2.0 genome assembly. The encoded isoform (d) has a frameshifted C-terminus compared to isoform a.

Source sequence(s)

CP068277
NM_001412176.1 → NP_001399105.1 ammonium transporter Rh type B isoform e

Status: REVIEWED

Description

Transcript Variant: This variant (9) uses the same exon combination as variant 2 but represents the allele encoded by the T2T-CHM13v2.0 genome assembly. The encoded isoform (e) has a frameshifted C-terminus compared to isoform b.

Source sequence(s)

CP068277
NM_001412177.1 → NP_001399106.1 ammonium transporter Rh type B isoform f

Status: REVIEWED

Description

Transcript Variant: This variant (10) uses the same exon combination as variant 3 but represents the allele encoded by the T2T-CHM13v2.0 genome assembly. The encoded isoform (f) has a frameshifted C-terminus compared to isoform c.

Source sequence(s)

CP068277
NM_020407.5 → NP_065140.3 ammonium transporter Rh type B isoform a

See identical proteins and their annotated locations for NP_065140.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) uses the same exon combination as variant 8 but represents the allele encoded by the GRCh38 reference genome. The encoded isoform (a) has a frameshifted C-terminus compared to isoform d.

Source sequence(s)

AF193807, AL589685

Consensus CDS

CCDS41414.2

UniProtKB/Swiss-Prot

A8K475, Q5SZW4, Q5SZW6, Q5SZW7, Q6P193, Q6YJI2, Q6YJI3, Q9H310

Related

ENSP00000441197.2, ENST00000537040.6

Conserved Domains (1) summary

cl03012
Location:61 → 360

Ammonium_transp; Ammonium Transporter Family

RNA

NR_046115.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) contains an additional exon in the 5' region and uses an alternate splice site in the central region, compared to variant 1. This variant is represented as non-coding because translation of the longest in-frame ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AF193807, AK294641, AL589685, DC393205

Related

ENST00000613460.4
NR_146763.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (5) contains two consecutive additional exons in the 5' region and uses an alternate internal splice site, compared to variant 1. This variant is represented as non-coding because translation of the longest in-frame ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AK290840, AK303799, AL589685, AY139093, BI758836, DA636784, DC393205, KF798192
NR_146764.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (6) contains an additional exon in the 5' region and uses an alternate internal splice site, compared to variant 1. This variant is represented as non-coding because translation of the longest in-frame ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AK303799, AY139092, DC393205, KF798192

Related

ENST00000451864.6
NR_146765.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (7) contains an additional exon in the 5' region and uses an alternate internal splice site, compared to variant 1. This variant is represented as non-coding because translation of the longest in-frame ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AK303799, AL139130, AY139092, DC393205, KF798192