RHCG

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

Basic information

Region (hg38): 15:89471398-89496589

Previous symbols: [ "C15orf6" ]

Links

ENSG00000140519 ∙ NCBI:51458 ∙ OMIM:605381 ∙ HGNC:18140 ∙ Uniprot:Q9UBD6 ∙ 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 RHCG gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RHCG gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			39	3		42
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	39	3	0

Variants in RHCG

This is a list of pathogenic ClinVar variants found in the RHCG region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
15-89472745-A-C		not specified	Uncertain significance (Jun 03, 2024)
15-89472754-G-A		not specified	Uncertain significance (Feb 14, 2023)
15-89472820-G-A		not specified	Uncertain significance (Aug 02, 2022)
15-89472849-G-C		not specified	Likely benign (Apr 22, 2022)
15-89476801-C-A		not specified	Uncertain significance (Aug 21, 2023)
15-89476811-G-A		not specified	Uncertain significance (May 26, 2022)
15-89477136-T-C		not specified	Uncertain significance (May 30, 2023)
15-89477172-C-T		not specified	Likely benign (Oct 12, 2021)
15-89477181-C-T		not specified	Uncertain significance (Jul 27, 2021)
15-89477553-G-A		not specified	Uncertain significance (Mar 18, 2024)
15-89477569-C-T		not specified	Uncertain significance (Oct 01, 2024)
15-89477590-G-A		not specified	Uncertain significance (Aug 12, 2021)
15-89477617-A-C		not specified	Uncertain significance (Nov 18, 2022)
15-89477638-G-A		not specified	Uncertain significance (Oct 02, 2023)
15-89477866-T-C		not specified	Likely benign (May 04, 2022)
15-89477868-A-G		not specified	Uncertain significance (Jun 16, 2024)
15-89477872-C-T		not specified	Uncertain significance (Aug 02, 2021)
15-89477884-C-T		not specified	Uncertain significance (Feb 21, 2024)
15-89477922-G-C		not specified	Uncertain significance (Nov 09, 2024)
15-89477925-G-A		not specified	Uncertain significance (Aug 02, 2022)
15-89477935-C-A		not specified	Uncertain significance (Jul 31, 2024)
15-89477953-G-A		not specified	Uncertain significance (Sep 25, 2023)
15-89479378-C-T		not specified	Uncertain significance (Nov 22, 2023)
15-89479421-C-G		not specified	Uncertain significance (Dec 07, 2023)
15-89479482-A-C		not specified	Uncertain significance (Jul 27, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RHCG	protein_coding	protein_coding	ENST00000268122	10	41165

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000100	0.997	125699	0	49	125748	0.000195

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.289	273	287	0.952	0.0000158	3128
Missense in Polyphen		108	121.51	0.88884		1320
Synonymous	-0.354	126	121	1.04	0.00000785	955
Loss of Function	2.65	11	25.4	0.432	0.00000136	255

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000627	0.000627
Ashkenazi Jewish	0.00	0.00
East Asian	0.000164	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.000222	0.000220
Middle Eastern	0.000164	0.000163
South Asian	0.000163	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Functions as an electroneutral and bidirectional ammonium transporter. May regulate transepithelial ammonia secretion. {ECO:0000269|PubMed:11062476, ECO:0000269|PubMed:14761968, ECO:0000269|PubMed:15929723, ECO:0000269|PubMed:16477434}.
• 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: 0.138

Intolerance Scores

• loftool: 0.722
• rvis_EVS: -0.44
• rvis_percentile_EVS: 24.46

Haploinsufficiency Scores

• pHI: 0.0877
• hipred: N
• hipred_score: 0.300
• ghis: 0.444

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.197

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Rhcg
• Phenotype: growth/size/body region phenotype; homeostasis/metabolism phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); reproductive system phenotype; renal/urinary system phenotype

Zebrafish Information Network

• Gene name: rhcgl1
• Affected structure: ammonium transport
• Phenotype tag: abnormal
• Phenotype quality: decreased process quality

Gene ontology

• Biological process: cellular ion homeostasis;regulation of pH;ammonium transport;amine transport;epithelial cell differentiation;homeostatic process;transepithelial ammonium transport;ammonium transmembrane transport
• Cellular component: plasma membrane;integral component of plasma membrane;basolateral plasma membrane;apical plasma membrane;cytoplasmic vesicle;extracellular exosome
• Molecular function: ammonium transmembrane transporter activity;ankyrin binding;identical protein binding