SRRM3

protein-coding

serine/arginine repetitive matrix 3

Gene summary

Predicted to enable mRNA binding activity. Involved in RNA splicing and negative regulation of insulin secretion. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001110199.3

Inheritance

—

ClinVar variants

U:88B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.25

Max pathogenic AF

—

Genomic locus

chr7:76,201,896-76,287,288

External References & Databases

Ensembl (ENSG00000177679)

Transcript & Mutation Effects

hg38 • Region Span ~85.4 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 SRRM3 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 87

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001110199.3. 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				2 clinvar		2
missense			86 clinvar	1 clinvar		87
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	88	3	0	91

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 6 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001110199.3	RefSeq	NP_001103669.1	14	MANE Select
ENST00000611745.2	Ensembl	ENSP00000480851.1	14	MANE Select
NM_001291831.2	RefSeq	NP_001278760.1	15	Standard
ENST00000464752.1	Ensembl	ENSP00000483698.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

mRNA binding

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000326382
Coding exons: 14
Length: 85390
Individuals with no LoFs: 124202
Homozygous LoFs: 0
Heterozygous LoFs: 10
Defined: 124212
p: 0.0000403

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.24	167	219	0.764	0.0000120	3673
Missense (PolyPhen)		1	1.3231	0.75579		28
Synonymous	1.38	74	90.8	0.815	0.00000473	1284
Loss of Function	3.11	5	20.0	0.250	0.00000100	313

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.00012	0.00012	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00011	0.00011	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000027	0.000027	rare
South Asian	0	0.0	absent
Other	0.00017	0.00017	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May play a role in regulating breast cancer cell invasiveness (PubMed:26053433). May be involved in RYBP-mediated breast cancer progression (PubMed:27748911). {ECO:0000269|PubMed:26053433, ECO:0000269|PubMed:27748911}.;

Essentials

Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.341

Gene Damage Prediction

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