ECRG4

protein-coding

ECRG4 augurin precursor

Gene summary

Enables neuropeptide hormone activity. Involved in neuropeptide signaling pathway; positive regulation of hormone secretion; and vasopressin secretion. Located in apical plasma membrane; dense core granule; and obsolete extracellular space. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C2orf40

MANE transcript

NM_032411.3

Inheritance

—

ClinVar variants

U:2B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.73

Max pathogenic AF

—

Genomic locus

chr2:106,063,246-106,078,155

External References & Databases

Ensembl (ENSG00000119147)

Transcript & Mutation Effects

hg38 • Region Span ~14.9 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 ECRG4 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 2

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_032411.3. 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						0
missense			2 clinvar		1 clinvar	3
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	2	0	1	3

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 10 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_032411.3	RefSeq	NP_115787.1	4	MANE Select
ENST00000238044.8	Ensembl	ENSP00000238044.3	4	MANE Select
ENST00000409944.5	Ensembl	ENSP00000386421.1	3	Standard
ENST00000437659.1	Ensembl	ENSP00000388664.1	4	Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / Model	Organism	Observed Phenotype
ecrg4a	Danio rerio	Structure: fourth ventricle Quality: hydrocephalic abnormal

Gene / Model

Organism

Observed Phenotype

ecrg4a

Danio rerio

Structure: fourth ventricle

Quality: hydrocephalic

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

anaphase-promoting complex-dependent catabolic process
G1 to G0 transition
cellular senescence

Cellular Component

extracellular space
transport vesicle

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000238044
Coding exons: 4
Length: 14914
Individuals with no LoFs: 123522
Homozygous LoFs: 65
Heterozygous LoFs: 2161
Defined: 125748
p: 0.00889

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.164	88	83.8	1.05	0.00000533	945
Missense (PolyPhen)		32	31.737	1.0083		354
Synonymous	-1.29	41	31.7	1.29	0.00000193	276
Loss of Function	0.728	6	8.26	0.727	4.49e-7	87

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00018	0.00018	rare
Latino/Admixed American	0.00023	0.00023	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000054	0.000054	rare
Finnish	0.071	0.071	notable
European (Non-Finnish)	0.0028	0.0028	notable
South Asian	0.012	0.012	notable
Other	0.0073	0.0074	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Probable hormone that may induce senescence of oligodendrocyte and neural precursor cells, characterized by G1 arrest, RB1 dephosphorylation and accelerated CCND1 and CCND3 proteasomal degradation. {ECO:0000250, ECO:0000269|PubMed:17284679}.;

Recessive Scores

pRec: 0.113

Intolerance Scores

LoFtool: 0.792
RVIS EVS: 0.77
RVIS percentile EVS: 86.95

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