RNLS

protein-coding

renalase, FAD dependent amine oxidase

Gene summary

Enables several functions, including NADH binding activity; epinephrine binding activity; and monoamine oxidase activity. Involved in negative regulation of blood pressure and negative regulation of heart rate. Located in extracellular region. Implicated in essential hypertension; hypertension; and stroke. Biomarker of end stage renal disease. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C10orf59

MANE transcript

NM_001031709.3

Inheritance

ClinVar variants

U:57B:14

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.64

Max pathogenic AF

—

Genomic locus

chr10:88,273,864-88,584,530

External References & Databases

Ensembl (ENSG00000184719)

Transcript & Mutation Effects

hg38 • Region Span ~310.7 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

cataractLIMITED

Inheritance Pattern: AR

Disease ID:MONDO:0005129

Submitter: G2P

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to RNLS variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 51

not providedTotal: 34

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001031709.3. 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				4 clinvar	1 clinvar	5
missense			56 clinvar	6 clinvar	2 clinvar	64
nonsense				1 clinvar		1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	57	11	3	71

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 21 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001031709.3	RefSeq	NP_001026879.2	7	MANE Select
ENST00000331772.9	Ensembl	ENSP00000332530.4	7	MANE Select
NM_018363.4	RefSeq	NP_060833.1	7	Standard
ENST00000371947.7	Ensembl	ENSP00000361015.3	7	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Metabolism
Nicotinamide salvaging
Nicotinate metabolism
Metabolism of water-soluble vitamins and cofactors
Metabolism of vitamins and cofactors

Biological Process

response to ischemia
negative regulation of heart rate
NAD biosynthesis via nicotinamide riboside salvage pathway
negative regulation of blood pressure
oxidation-reduction process

Molecular Function

oxidoreductase activity, acting on NAD(P)H
epinephrine binding
NADH binding
monoamine oxidase activity

Cellular Component

extracellular region
extracellular space

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000331772
Coding exons: 7
Length: 310667
Individuals with no LoFs: 125576
Homozygous LoFs: 1
Heterozygous LoFs: 171
Defined: 125748
p: 0.000684

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.0182	185	186	0.996	0.00000922	2218
Missense (PolyPhen)		64	61.667	1.0378		704
Synonymous	0.508	64	69.4	0.922	0.00000345	664
Loss of Function	1.38	11	17.2	0.640	7.93e-7	208

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00043	0.00043	rare
Latino/Admixed American	0.00075	0.00075	rare
Ashkenazi Jewish	0.00030	0.00030	rare
East Asian	0.00028	0.00027	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00040	0.00040	rare
South Asian	0.0027	0.0027	notable
Other	0.00065	0.00065	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Catalyzes the oxidation of the less abundant 1,2- dihydro-beta-NAD(P) and 1,6-dihydro-beta-NAD(P) to form beta- NAD(P)(+). The enzyme hormone is secreted by the kidney, and circulates in blood and modulates cardiac function and systemic blood pressure. Lowers blood pressure in vivo by decreasing cardiac contractility and heart rate and preventing a compensatory increase in peripheral vascular tone, suggesting a causal link to the increased plasma catecholamine and heightened cardiovascular risk. High concentrations of catecholamines activate plasma renalase and promotes its secretion and synthesis. {ECO:0000269|PubMed:15841207, ECO:0000269|PubMed:17385068, ECO:0000269|PubMed:25531177}.;

Recessive Scores

pRec: 0.115

Intolerance Scores

LoFtool: 0.234
RVIS EVS: 0.84
RVIS percentile EVS: 88.3

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0204

Gene Damage Prediction

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