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

Gene ID: 57127, updated on 27-Sep-2022

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
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Genomic context

See RHBG in Genome Data Viewer
Location:
1q22
Exon count:
16
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (156366046..156385219)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (155507822..155523825)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (156339002..156355011)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene VHL like Neighboring gene chaperonin containing TCP1 subunit 3 Neighboring gene TSSK6 activating cochaperone Neighboring gene Sharpr-MPRA regulatory region 198 Neighboring gene CRISPRi-validated cis-regulatory element chr1.9068

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ammonium transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables ammonium transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
enables ammonium transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables ammonium transmembrane transporter activity TAS
Traceable Author Statement
more info
 
enables ankyrin 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
PubMed 
involved_in ammonium transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 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 
located_in cytoplasmic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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

Preferred Names
ammonium transporter Rh type B
Names
Rhesus blood group, B glycoprotein

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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)

  1. NM_001256395.2NP_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:1291
    Ammonium_transp; Ammonium Transporter Family
  2. NM_001256396.2NP_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:28330
    Ammonium_transp; Ammonium Transporter Family
  3. NM_001412175.1NP_001399104.1  ammonium transporter Rh type B isoform d precursor

    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
  4. NM_001412176.1NP_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
  5. NM_001412177.1NP_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
  6. NM_020407.5NP_065140.3  ammonium transporter Rh type B isoform a precursor

    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
    Q6YJI3, Q9H310
    Related
    ENSP00000441197.2, ENST00000537040.6
    Conserved Domains (1) summary
    cl03012
    Location:61360
    Ammonium_transp; Ammonium Transporter Family

RNA

  1. 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
  2. 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
  3. 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
  4. 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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    156366046..156385219
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011509799.3XP_011508101.1  ammonium transporter Rh type B isoform X3

    Conserved Domains (1) summary
    cl03012
    Location:118302
    Ammonium_transp; Ammonium Transporter Family
  2. XM_017001859.2XP_016857348.1  ammonium transporter Rh type B isoform X6

  3. XM_011509800.3XP_011508102.1  ammonium transporter Rh type B isoform X4

    Conserved Domains (1) summary
    cl03012
    Location:64198
    Ammonium_transp; Ammonium Transporter Family
  4. XM_017001858.2XP_016857347.1  ammonium transporter Rh type B isoform X2

  5. XM_017001857.2XP_016857346.1  ammonium transporter Rh type B isoform X1

  6. XM_047425851.1XP_047281807.1  ammonium transporter Rh type B isoform X5

RNA

  1. XR_001737325.2 RNA Sequence

    Related
    ENST00000451864.6
  2. XR_001737323.2 RNA Sequence

  3. XR_001737324.2 RNA Sequence

    Related
    ENST00000612897.4
  4. XR_007062006.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    155507822..155523825
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)