SUCNR1

protein-coding

succinate receptor 1, the group of Succinate receptor

Gene summary

This gene encodes a G-protein-coupled receptor for succinate, an intermediate molecule of the citric acid cycle. It is involved in the promotion of hematopoietic progenitor cell development, and it has a potential role in renovascular hypertension which has known correlations to renal failure, diabetes and atherosclerosis. [provided by RefSeq, Oct 2009]

Previous symbols:

GPR91

MANE transcript

NM_033050.6

Inheritance

—

ClinVar variants

U:41B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.63

Max pathogenic AF

—

Genomic locus

chr3:151,873,643-151,884,619

External References & Databases

Ensembl (ENSG00000198829)

Transcript & Mutation Effects

hg38 • Region Span ~11.0 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 SUCNR1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 45

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_033050.6. 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					1 clinvar	1
missense			41 clinvar	4 clinvar		45
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	41	4	1	46

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 7 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_033050.6	RefSeq	NP_149039.2	2	MANE Select
ENST00000362032.6	Ensembl	ENSP00000355156.4	2	MANE Select
ENST00000875328.1	Ensembl	ENSP00000545387.1	2	Standard
ENST00000875328.2	Ensembl	ENSP00000545387.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

cAMP signaling pathway - Homo sapiens (human)
GPCRs, Class A Rhodopsin-like
Signaling by GPCR
Signal Transduction
Class A/1 (Rhodopsin-like receptors)

Biological Process

renin secretion into blood stream
macrophage activation involved in immune response
G protein-coupled receptor signaling pathway
biological_process
interleukin-1 beta production

Molecular Function

G protein-coupled receptor activity

Cellular Component

plasma membrane
integral component of membrane
extracellular exosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000362032
Coding exons: 2
Length: 10975
Individuals with no LoFs: 125657
Homozygous LoFs: 0
Heterozygous LoFs: 84
Defined: 125741
p: 0.000334

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.154	170	176	0.967	0.00000900	2203
Missense (PolyPhen)		58	65.028	0.89193		826
Synonymous	-0.857	73	64.3	1.14	0.00000317	664
Loss of Function	1.05	6	9.48	0.633	6.42e-7	100

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00037	0.00037	rare
Latino/Admixed American	0.0015	0.0015	notable
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00049	0.00049	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00011	0.00011	rare
South Asian	0.00013	0.00013	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Receptor for succinate. {ECO:0000269|PubMed:15141213}.;

Recessive Scores

pRec: 0.103

Intolerance Scores

LoFtool: 0.752
RVIS EVS: -0.32
RVIS percentile EVS: 31.69

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0808

Gene Damage Prediction

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