SRP19

protein-coding

signal recognition particle 19, the group of Signal recognition particle

Gene summary

Enables 7S RNA binding activity. Contributes to ribosome binding activity. Predicted to be involved in SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition. Located in cytosol and nucleolus. Part of signal recognition particle, endoplasmic reticulum targeting. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_003135.3

Inheritance

ClinVar variants

U:23B:3

Top phenotype

Shwachman-Diamond syndrome 1

gnomAD constraint

pLI —, LoF o/e 0.48

Max pathogenic AF

—

Genomic locus

chr5:112,861,188-112,898,371

External References & Databases

Ensembl (ENSG00000153037)

Transcript & Mutation Effects

hg38 • Region Span ~37.2 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

neutropeniaMODERATE

Inheritance Pattern: AR

Disease ID:MONDO:0001475

Submitter: PanelApp Australia

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to SRP19 variants in ClinVar

4 Conditions Cataloged

not specifiedTotal: 22

not providedTotal: 1

Shwachman-Diamond syndrome 1Total: 1

Severe congenital neutropeniaTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_003135.3. 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				3 clinvar		3
missense			20 clinvar			20
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	23	3	0	26

Highest pathogenic variant AF is 6.842089e-7

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 36 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_003135.3	RefSeq	NP_003126.1	5	MANE Select
ENST00000505459.6	Ensembl	ENSP00000424870.1	5	MANE Select
NM_001204193.2	RefSeq	NP_001191122.1	5	Standard
NM_001204194.2	RefSeq	NP_001191123.1	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Protein export - Homo sapiens (human)
SRP-dependent cotranslational protein targeting to membrane
Translation
Metabolism of proteins

Biological Process

cotranslational protein targeting to membrane
SRP-dependent cotranslational protein targeting to membrane
SRP-dependent cotranslational protein targeting to membrane, translocation
SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition
response to drug

Molecular Function

RNA binding
protein binding
7S RNA binding
ribosome binding

Cellular Component

nucleolus
signal recognition particle, endoplasmic reticulum targeting
cytosol
signal recognition particle

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000505459
Coding exons: 5
Length: 8567
Individuals with no LoFs: 125735
Homozygous LoFs: 0
Heterozygous LoFs: 6
Defined: 125741
p: 0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.257	73	79.5	0.919	0.00000403	929
Missense (PolyPhen)		11	17.005	0.64688		206
Synonymous	-0.626	30	25.9	1.16	0.00000122	261
Loss of Function	1.57	5	10.5	0.476	6.30e-7	106

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000054	0.000054	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000027	0.000026	rare
South Asian	0.000065	0.000065	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Signal-recognition-particle assembly, binds directly to 7S RNA and mediates binding of the 54 kDa subunit of the SRP.;

Recessive Scores

pRec: 0.157

Intolerance Scores

LoFtool: 0.572
RVIS EVS: -0.16
RVIS percentile EVS: 41.25

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): E
Indispensability pred.: E
Indispensability score: 0.994

Gene Damage Prediction

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