LITAFD

protein-coding

LITAF domain containing

Gene summary

Predicted to enable zinc ion binding activity. Predicted to be involved in regulation of cytokine production. Predicted to be located in membrane. Predicted to be active in cytoplasmic side of late endosome membrane; cytoplasmic side of lysosomal membrane; and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001395433.1

Inheritance

—

ClinVar variants

B:1

Top phenotype

—

Max pathogenic AF

—

Genomic locus

chr16:8,875,704-8,885,353

External References & Databases

Ensembl (ENSG00000283516)

NCBI Gene (101929989)

Transcript & Mutation Effects

hg38 • Region Span ~9.6 kb

Loading mutation effect viewer...

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 LITAFD variants in ClinVar

1 Conditions Cataloged

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001395433.1. 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					1 clinvar	1
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	0	0	1	1

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 11 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001395433.1	RefSeq	NP_001382362.1	2	MANE Select
ENST00000636296.2	Ensembl	ENSP00000490685.1	2	MANE Select
NM_001395434.1	RefSeq	NP_001382363.1	2	Standard
ENST00000637237.1	Ensembl	ENSP00000490446.1	2	Standard