SSMEM1

protein-coding

serine rich single-pass membrane protein 1

Gene summary

Predicted to be involved in spermatogenesis. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C7orf45

MANE transcript

NM_145268.4

Inheritance

—

ClinVar variants

U:32B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.6

Max pathogenic AF

—

Genomic locus

chr7:130,206,344-130,216,844

External References & Databases

Ensembl (ENSG00000165120)

Transcript & Mutation Effects

hg38 • Region Span ~10.5 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 SSMEM1 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 37

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_145268.4. 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						0
missense			32 clinvar	5 clinvar		37
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	32	5	0	37

Loading ClinVar variants...

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_145268.4	RefSeq	NP_660311.1	3	MANE Select
ENST00000297819.4	Ensembl	ENSP00000297819.3	3	MANE Select
ENST00000648806.1	Ensembl	ENSP00000497213.1	2	Standard
ENST00001129815.1	Ensembl	ENSP00000799620.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Cellular Component

integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000297819
Coding exons: 3
Length: 8984
Individuals with no LoFs: 125625
Homozygous LoFs: 1
Heterozygous LoFs: 122
Defined: 125748
p: 0.000489

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.565	111	129	0.860	0.00000657	1644
Missense (PolyPhen)		2	4.1496	0.48197		53
Synonymous	0.982	38	46.5	0.817	0.00000266	423
Loss of Function	-1.82	17	10.6	1.60	5.53e-7	116

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00043	0.00043	rare
Latino/Admixed American	0.00076	0.00075	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.0014	0.0014	notable
Finnish	0.00014	0.00014	rare
European (Non-Finnish)	0.00027	0.00027	rare
South Asian	0.0010	0.00098	notable
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

RVIS EVS: 0.82
RVIS percentile EVS: 87.87

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N

Gene Damage Prediction

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