RHAG

Chr 6p12.3

Rh associated glycoprotein

Aliases:: RH50A, CD241, SLC42A1
MANE:: ENST00000371175.10

OMIM: 180297 ↗NCBI: 6005 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

RHAG · Q02094

v62025-08-01

Predicted Aligned Error matrix for RHAG — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

95.6/ 100

Very high

409 residues

Confidence breakdown

Very high(≥ 90)94%
Confident(70–90)3%
Low(50–70)2%
Very low(< 50)2%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Cytopenias and congenital anaemias
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rare anaemia
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

Rh deficiency syndrome
0.76
overhydrated hereditary stomatocytosis
0.71
placental retention
0.22
Alzheimer disease
0.09
non-small cell lung carcinoma
0.09
neoplasm
0.08
carotid artery disorder
0.07
lung carcinoma
0.06
lung cancer
0.06
cancer
0.05

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Ammonium transporter Rh type A

Component of the ankyrin-1 complex, a multiprotein complex involved in the stability and shape of the erythrocyte membrane (PubMed:35835865). Heterotrimer with RHCE (RHAG)2(RHCE), that transports ammonium and its related derivative methylammonium, in both neutral and ionic forms, across the erythrocyte membrane (PubMed:11062476, PubMed:11861637, PubMed:15572441, PubMed:15856280, PubMed:19273840, PubMed:21849667, PubMed:22012326, PubMed:24077989, PubMed:26354748). The transport of NH4(+) is electrogenic and masks the NH3 transport (PubMed:26354748). Also, may act as a CO2 channel (PubMed:17712059, PubMed:19273840, PubMed:24077989). In vitro, leaks monovalent cations (PubMed:18931342, PubMed:21849667). Moreover in erythrocyte, regulates RHD membrane expression (PubMed:12130520) and is associated with rhesus blood group antigen expression (PubMed:12130520, PubMed:19744193)