SRL

protein-coding

sarcalumenin

Gene summary

Predicted to enable GTP binding activity. Predicted to be involved in store-operated calcium entry. Predicted to act upstream of or within response to muscle activity involved in regulation of muscle adaptation. Predicted to be located in sarcoplasmic reticulum lumen and sarcoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001098814.2

Inheritance

—

ClinVar variants

U:66B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.76

Max pathogenic AF

—

Genomic locus

chr16:4,189,374-4,242,080

External References & Databases

Ensembl (ENSG00000185739)

Transcript & Mutation Effects

hg38 • Region Span ~52.7 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 SRL variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 66

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001098814.2. 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	2 clinvar	3
missense			64 clinvar	1 clinvar		65
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	66	2	2	70

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 39 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001098814.2	RefSeq	NP_001092284.1	6	MANE Select
ENST00000399609.7	Ensembl	ENSP00000382518.3	6	MANE Select
NM_001323667.1	RefSeq	NP_001310596.1	5	Standard
NM_001323668.1	RefSeq	NP_001310597.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

GTP binding

Cellular Component

sarcoplasmic reticulum lumen

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000399609
Coding exons: 6
Length: 52707
Individuals with no LoFs: 124764
Homozygous LoFs: 0
Heterozygous LoFs: 37
Defined: 124801
p: 0.000148

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.473	263	285	0.921	0.0000177	3120
Missense (PolyPhen)		119	127.89	0.9305		1402
Synonymous	-2.16	145	115	1.26	0.00000708	923
Loss of Function	0.912	13	17.1	0.762	7.28e-7	212

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000065	0.000065	rare
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00011	0.00011	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00013	0.00013	rare
South Asian	0.00049	0.00049	rare
Other	0.00067	0.00066	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May be involved in the regulation of calcium transport.;

Recessive Scores

pRec: 0.210

Intolerance Scores

LoFtool: 0.188
RVIS EVS: -1.07
RVIS percentile EVS: 7.43

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0468

Gene Damage Prediction

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