GARIN2

protein-coding

golgi associated RAB2 interactor family member 2

Gene summary

Predicted to be involved in flagellated sperm motility. Predicted to act upstream of or within cell morphogenesis; penetration of zona pellucida; and spermatid development. Predicted to be located in sperm midpiece. Predicted to be active in sperm head. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C14orf54
FAM71D

MANE transcript

NM_001395907.1

Inheritance

—

ClinVar variants

U:68B:2

Top phenotype

—

Max pathogenic AF

—

Genomic locus

chr14:67,189,393-67,228,550

External References & Databases

Ensembl (ENSG00000172717)

Transcript & Mutation Effects

hg38 • Region Span ~39.2 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 GARIN2 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 70

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001395907.1. 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			68 clinvar	2 clinvar		70
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	68	2	0	70

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 31 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001395907.1	RefSeq	NP_001382836.1	6	MANE Select
ENST00000696955.1	Ensembl	ENSP00000512992.1	6	MANE Select
NM_173526.4	RefSeq	NP_775797.2	6	Standard
ENST00000524532.5	Ensembl	ENSP00000436280.1	2	Standard

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.774
RVIS EVS: -0.16
RVIS percentile EVS: 42.06

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

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