RHBG

protein-coding

Rh family B glycoprotein, the group of Solute carrier family 42

Gene 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]

MANE transcript

NM_020407.5

Inheritance

—

ClinVar variants

U:86B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.09

Max pathogenic AF

—

Genomic locus

chr1:156,369,211-156,385,219

External References & Databases

Ensembl (ENSG00000132677)

Transcript & Mutation Effects

hg38 • Region Span ~16.0 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to RHBG variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 81

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_020407.5. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			2 clinvar	1 clinvar		3
missense			79 clinvar	3 clinvar		82
nonsense			1 clinvar			1
start loss						0
frameshift			2 clinvar			2
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	86	4	0	90

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 28 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_020407.5	RefSeq	NP_065140.3	10	MANE Select
ENST00000537040.6	Ensembl	ENSP00000441197.2	10	MANE Select
NM_001256395.2	RefSeq	NP_001243324.1	9	Standard
NM_001256396.2	RefSeq	NP_001243325.1	11	Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / Model	Organism	Observed Phenotype
rhbg	Danio rerio	Structure: keratinocyte Quality: flux abnormal

Gene / Model

Organism

Observed Phenotype

rhbg

Danio rerio

Structure: keratinocyte

Quality: flux

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Amine compound SLC transporters
Rhesus glycoproteins mediate ammonium transport.
Transport of bile salts and organic acids, metal ions and amine compounds
SLC-mediated transmembrane transport
Transport of small molecules

Biological Process

ammonium transport
transepithelial ammonium transport
ammonium transmembrane transport

Molecular Function

ammonium transmembrane transporter activity
ankyrin binding

Cellular Component

plasma membrane
integral component of plasma membrane
spectrin-associated cytoskeleton
basolateral plasma membrane
cytoplasmic vesicle membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000368249
Coding exons: 10
Length: 16009
Individuals with no LoFs: 125482
Homozygous LoFs: 1
Heterozygous LoFs: 93
Defined: 125576
p: 0.000374

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.0313	261	262	0.995	0.0000145	2826
Missense (PolyPhen)		89	99.792	0.89185		1143
Synonymous	0.251	116	119	0.971	0.00000737	962
Loss of Function	-0.351	19	17.4	1.09	7.44e-7	194

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00039	0.00037	rare
Latino/Admixed American	0.00026	0.00023	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00039	0.00038	rare
Finnish	0.0010	0.0010	notable
European (Non-Finnish)	0.00028	0.00027	rare
South Asian	0.00059	0.00056	rare
Other	0.00050	0.00049	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Functions as a specific ammonium transporter. {ECO:0000269|PubMed:15284342, ECO:0000269|PubMed:15929723}.;

Recessive Scores

pRec: 0.117

Essentials

Essential (CRISPR2): S
Indispensability pred.: N
Indispensability score: 0.132

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High