GARIN5B

protein-coding

golgi associated RAB2 interactor family member 5B

Gene summary

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

Previous symbols:

C19orf16
FAM71E2

MANE transcript

NM_001145402.2

Inheritance

—

ClinVar variants

U:193B:23

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.61

Max pathogenic AF

—

Genomic locus

chr19:55,354,908-55,363,260

External References & Databases

Ensembl (ENSG00000180043)

Transcript & Mutation Effects

hg38 • Region Span ~8.4 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 GARIN5B variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 211

not providedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001145402.2. 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				4 clinvar		4
missense			193 clinvar	19 clinvar		212
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	193	23	0	216

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 3 of 3 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001145402.2	RefSeq	NP_001138874.1	10	MANE Select
ENST00000424985.3	Ensembl	ENSP00000398617.1	10	MANE Select
ENST00000585734.5	Ensembl	ENSP00000466418.1	2	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000424985
Coding exons: 10
Length: 8353
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.01	437	500	0.873	0.0000303	5797
Missense (PolyPhen)		42	54.717	0.76759		678
Synonymous	2.02	194	233	0.832	0.0000161	1994
Loss of Function	2.03	19	31.3	0.608	0.00000146	409

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	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Essentials

Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.290

Gene Damage Prediction

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