RHBG

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

Basic information

Region (hg38): 1:156369211-156385219

Links

ENSG00000132677 ∙ NCBI:57127 ∙ OMIM:607079 ∙ HGNC:14572 ∙ Uniprot:Q9H310 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RHBG gene.

• not_specified (74 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RHBG gene is commonly pathogenic or not. These statistics are base on transcript: NM_000020407.5. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			71	3		74
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	71	3	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RHBG	protein_coding	protein_coding	ENST00000368249	10	16009

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.08e-13	0.0115	125482	1	93	125576	0.000374

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0313	261	262	0.995	0.0000145	2826
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000647	0.000630
Ashkenazi Jewish	0.00	0.00
East Asian	0.000389	0.000383
Finnish	0.00102	0.00102
European (Non-Finnish)	0.000276	0.000273
Middle Eastern	0.000389	0.000383
South Asian	0.000588	0.000555
Other	0.000502	0.000490

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Functions as a specific ammonium transporter. {ECO:0000269|PubMed:15284342, ECO:0000269|PubMed:15929723}.
• Pathway: 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 (Consensus)

Recessive Scores

• pRec: 0.117

Haploinsufficiency Scores

• pHI: 0.0452
• hipred: N
• hipred_score: 0.167
• ghis: 0.441

Essentials

• essential_gene_CRISPR2: S
• gene_indispensability_pred: N
• gene_indispensability_score: 0.132

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rhbg
• Phenotype: renal/urinary system phenotype; normal phenotype; homeostasis/metabolism phenotype

Zebrafish Information Network

• Gene name: rhbg
• Affected structure: keratinocyte
• Phenotype tag: abnormal
• Phenotype quality: flux

Gene ontology

• Biological process: ammonium transport;transepithelial ammonium transport;ammonium transmembrane transport
• Cellular component: plasma membrane;integral component of plasma membrane;spectrin-associated cytoskeleton;basolateral plasma membrane;cytoplasmic vesicle membrane;anchored component of plasma membrane
• Molecular function: ammonium transmembrane transporter activity;ankyrin binding