EEIG1

protein-coding

estrogen-induced osteoclastogenesis regulator 1, the group of NT-C2 domain containing

Gene summary

Predicted to be involved in positive regulation of osteoclast differentiation. Predicted to be located in cytoplasm; membrane raft; and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C9orf132
FAM102A

MANE transcript

NM_001035254.3

Inheritance

—

ClinVar variants

U:79B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.28

Max pathogenic AF

—

Genomic locus

chr9:127,940,582-127,980,989

External References & Databases

Ensembl (ENSG00000167106)

Transcript & Mutation Effects

hg38 • Region Span ~40.4 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 EEIG1 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 75

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001035254.3. 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			1 clinvar	1 clinvar		2
missense			76 clinvar			76
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	79	1	0	80

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 18 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001035254.3	RefSeq	NP_001030331.1	11	MANE Select
ENST00000373095.6	Ensembl	ENSP00000362187.1	11	MANE Select
NM_203305.3	RefSeq	NP_976050.1	7	Standard
ENST00000373084.8	Ensembl	ENSP00000362176.4	7	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

protein binding

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000373095
Coding exons: 11
Length: 39935
Individuals with no LoFs: 125738
Homozygous LoFs: 0
Heterozygous LoFs: 7
Defined: 125745
p: 0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.33	193	253	0.764	0.0000167	2472
Missense (PolyPhen)		57	93.719	0.6082		871
Synonymous	-0.386	114	109	1.05	0.00000762	776
Loss of Function	2.84	5	18.0	0.278	8.62e-7	210

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000058	0.000058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000035	0.000035	rare
South Asian	0.000033	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May play a role in estrogen action. {ECO:0000269|PubMed:14605097}.;

Recessive Scores

pRec: 0.122

Intolerance Scores

LoFtool: 0.210
RVIS EVS: -0.58
RVIS percentile EVS: 18.59

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.382

Gene Damage Prediction

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