AIF1L

protein-coding

allograft inflammatory factor 1 like, the group of EF-hand domain containing

Gene summary

Enables actin filament binding activity. Predicted to be involved in actin filament bundle assembly and ruffle assembly. Located in actin filament and focal adhesion. Biomarker of breast cancer. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C9orf58

MANE transcript

NM_031426.4

Inheritance

—

ClinVar variants

U:21

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.49

Max pathogenic AF

—

Genomic locus

chr9:131,096,476-131,123,152

External References & Databases

Ensembl (ENSG00000126878)

Transcript & Mutation Effects

hg38 • Region Span ~26.7 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 AIF1L variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 18

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_031426.4. 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			1 clinvar			1
missense			17 clinvar			17
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	21	0	0	21

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 30 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_031426.4	RefSeq	NP_113614.1	6	MANE Select
ENST00000247291.8	Ensembl	ENSP00000247291.3	6	MANE Select
NM_001185095.2	RefSeq	NP_001172024.1	7	Standard
NM_001185096.2	RefSeq	NP_001172025.1	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

actin filament bundle assembly
ruffle assembly

Molecular Function

calcium ion binding
actin filament binding

Cellular Component

cytoplasm
actin filament
focal adhesion
actin cytoskeleton
ruffle membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000372309
Coding exons: 7
Length: 26677
Individuals with no LoFs: 125728
Homozygous LoFs: 0
Heterozygous LoFs: 13
Defined: 125741
p: 0.0000517

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.299	81	88.9	0.911	0.00000432	1160
Missense (PolyPhen)		33	31.254	1.0559		415
Synonymous	0.291	31	33.1	0.936	0.00000171	309
Loss of Function	1.53	5	10.3	0.485	5.20e-7	135

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	0.000054	0.000054	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.000072	0.000070	rare
South Asian	0.000033	0.000033	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Actin-binding protein that promotes actin bundling. May neither bind calcium nor depend on calcium for function. {ECO:0000269|PubMed:18699778}.;

Recessive Scores

pRec: 0.0989

Intolerance Scores

LoFtool: 0.527
RVIS EVS: 0.55
RVIS percentile EVS: 81.22

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 1.00

Gene Damage Prediction

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