SRBD1

protein-coding

S1 RNA binding domain 1

Gene summary

Predicted to enable mRNA binding activity. Predicted to be a structural constituent of ribosome. Predicted to be involved in translation. Predicted to be located in chromosome; cytoplasm; and nucleolus. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_018079.5

Inheritance

—

ClinVar variants

U:168B:9

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.75

Max pathogenic AF

—

Genomic locus

chr2:45,388,680-45,612,165

External References & Databases

Ensembl (ENSG00000068784)

Transcript & Mutation Effects

hg38 • Region Span ~223.5 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 SRBD1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 167

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_018079.5. 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	1 clinvar		3
missense			164 clinvar	8 clinvar		172
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	168	9	0	177

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 12 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_018079.5	RefSeq	NP_060549.4	20	MANE Select
ENST00000263736.5	Ensembl	ENSP00000263736.4	20	MANE Select
ENST00000922966.1	Ensembl	ENSP00000593025.1	20	Standard
ENST00000922966.2	Ensembl	ENSP00000593025.1	20	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

nucleobase-containing compound metabolic process
translation

Molecular Function

mRNA binding
structural constituent of ribosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000263736
Coding exons: 20
Length: 223486
Individuals with no LoFs: 125625
Homozygous LoFs: 0
Heterozygous LoFs: 123
Defined: 125748
p: 0.000489

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-1.85	638	519	1.23	0.0000266	6511
Missense (PolyPhen)		148	175.15	0.845		2194
Synonymous	-3.86	252	185	1.36	0.00000938	1888
Loss of Function	1.69	38	51.0	0.745	0.00000272	643

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00019	0.00018	rare
Latino/Admixed American	0.00029	0.00029	rare
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0.00049	0.00049	rare
Finnish	0.00042	0.00042	rare
European (Non-Finnish)	0.00067	0.00066	rare
South Asian	0.00033	0.00033	rare
Other	0.0010	0.00098	notable

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.944
RVIS EVS: 0.08
RVIS percentile EVS: 59.19

Essentials

Essential (CRISPR): E
Essential (CRISPR2): E
Essential (gene trap): E
Indispensability pred.: E
Indispensability score: 0.974

Gene Damage Prediction

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