ARL8B

protein-coding

ADP ribosylation factor like GTPase 8B, the group of ARF GTPase family

Gene summary

Enables G protein activity; guanyl ribonucleotide binding activity; and tubulin binding activity. Involved in several processes, including antigen processing and presentation following phagocytosis; cytosolic transport; and vesicle fusion. Located in cytolytic granule membrane; midbody; and spindle midzone. Is active in early endosome membrane and lysosomal membrane. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

ARL10C

MANE transcript

NM_018184.3

Inheritance

—

ClinVar variants

U:7

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.28

Max pathogenic AF

—

Genomic locus

chr3:5,122,249-5,180,911

External References & Databases

Ensembl (ENSG00000134108)

Transcript & Mutation Effects

hg38 • Region Span ~58.7 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 ARL8B variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 7

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_018184.3. 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			7 clinvar			7
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	7	0	0	7

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 23 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_018184.3	RefSeq	NP_060654.1	7	MANE Select
ENST00000256496.8	Ensembl	ENSP00000256496.3	7	MANE Select
ENST00000419534.2	Ensembl	ENSP00000402996.2	5	Standard
ENST00000419534.3	Ensembl	ENSP00000402996.2	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

cell cycle
chromosome segregation
lysosome localization
cell division

Molecular Function

GTPase activity
protein binding
GTP binding
GDP binding
alpha-tubulin binding

Cellular Component

cytoplasm
lysosomal membrane
vacuolar membrane
membrane
midbody

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000256496
Coding exons: 7
Length: 58692
Individuals with no LoFs: 125706
Homozygous LoFs: 0
Heterozygous LoFs: 8
Defined: 125714
p: 0.0000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	2.50	32	104	0.309	0.00000507	1219
Missense (PolyPhen)		6	35.935	0.16697		425
Synonymous	-0.519	39	35.1	1.11	0.00000162	339
Loss of Function	2.49	4	14.1	0.284	8.36e-7	144

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.00012	0.00012	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000026	0.000026	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 lysosome motility (PubMed:16537643, PubMed:25898167). May play a role in chromosome segregation (PubMed:15331635). {ECO:0000269|PubMed:15331635, ECO:0000269|PubMed:16537643, ECO:0000269|PubMed:25898167}.;

Recessive Scores

pRec: 0.156

Intolerance Scores

LoFtool: 0.408
RVIS EVS: 0.28
RVIS percentile EVS: 70.87

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.731

Gene Damage Prediction

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