ARL8A

protein-coding

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

Gene summary

Enables GTP binding activity. Predicted to be involved in anterograde axonal transport and chromosome segregation. Located in cytoplasm; midbody; and spindle midzone. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

ARL10B

MANE transcript

NM_138795.4

Inheritance

—

ClinVar variants

U:12B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.07

Max pathogenic AF

—

Genomic locus

chr1:202,133,404-202,144,743

External References & Databases

Ensembl (ENSG00000143862)

Transcript & Mutation Effects

hg38 • Region Span ~11.3 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

Tourette syndromeNO_KNOWN

Inheritance Pattern: Unknown

Disease ID:MONDO:0007661

Submitter: Labcorp Genetics (formerly Invitae)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ARL8A variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 6

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_138795.4. 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					2 clinvar	2
missense			6 clinvar			6
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			6 clinvar			6
Total	0	0	12	0	2	14

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 15 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_138795.4	RefSeq	NP_620150.1	7	MANE Select
ENST00000272217.7	Ensembl	ENSP00000272217.2	7	MANE Select
NM_001256129.2	RefSeq	NP_001243058.1	6	Standard
ENST00000614750.1	Ensembl	ENSP00000485023.1	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Neutrophil degranulation
Innate Immune System
Immune System

Biological Process

cell cycle
chromosome segregation
neutrophil degranulation
cell division

Molecular Function

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

Cellular Component

cytoplasm
lysosomal membrane
vacuolar membrane
plasma membrane
membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000272217
Coding exons: 7
Length: 11338
Individuals with no LoFs: 125589
Homozygous LoFs: 0
Heterozygous LoFs: 1
Defined: 125590
p: 0.00000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	2.92	25	112	0.224	0.00000643	1220
Missense (PolyPhen)		6	47.199	0.12712		493
Synonymous	0.699	36	41.7	0.862	0.00000241	325
Loss of Function	3.14	1	13.4	0.0746	7.51e-7	137

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000029	0.000029	rare
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

Function: FUNCTION: May play a role in lysosomes motility. Alternatively, may play a role in chromosome segregation (By similarity). {ECO:0000250}.;

Recessive Scores

pRec: 0.0757

Intolerance Scores

LoFtool: 0.130
RVIS EVS: -0.08
RVIS percentile EVS: 47.79

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.450

Gene Damage Prediction

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