TXLNA

protein-coding

taxilin alpha

Gene summary

Predicted to be involved in exocytosis. Predicted to act upstream of or within B cell activation. Located in cytoplasm. Implicated in Sjogren's syndrome. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_175852.4

Inheritance

—

ClinVar variants

U:81B:7

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.08

Max pathogenic AF

—

Genomic locus

chr1:32,179,675-32,198,285

External References & Databases

Ensembl (ENSG00000084652)

Transcript & Mutation Effects

hg38 • Region Span ~18.6 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 TXLNA variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 74

not providedTotal: 6

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_175852.4. 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	1 clinvar	1 clinvar	4
missense			71 clinvar	4 clinvar	1 clinvar	76
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			7 clinvar			7
Total	0	0	81	5	2	88

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 40 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_175852.4	RefSeq	NP_787048.1	10	MANE Select
ENST00000373610.8	Ensembl	ENSP00000362712.3	10	MANE Select
NM_001376857.1	RefSeq	NP_001363786.1	10	Standard
NM_001376858.1	RefSeq	NP_001363787.1	8	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Other interleukin signaling
Signaling by Interleukins
Cytokine Signaling in Immune system
JAK STAT MolecularVariation 1
GPCR signaling-G alpha q

Biological Process

exocytosis
cell population proliferation
regulation of signaling receptor activity
cytokine-mediated signaling pathway
B cell activation

Molecular Function

cytokine activity
protein binding
syntaxin binding
high molecular weight B cell growth factor receptor binding

Cellular Component

extracellular region
cytoplasm
cytosol
membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000373609
Coding exons: 10
Length: 18600
Individuals with no LoFs: 125732
Homozygous LoFs: 0
Heterozygous LoFs: 4
Defined: 125736
p: 0.0000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.58	232	310	0.748	0.0000180	3559
Missense (PolyPhen)		46	102.8	0.44746		1207
Synonymous	0.884	112	125	0.899	0.00000686	1039
Loss of Function	4.38	2	26.2	0.0764	0.00000125	312

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	0.000051	0.000046	rare
European (Non-Finnish)	0.0000088	0.0000088	rare
South Asian	0	0.0	absent
Other	0.00018	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May be involved in intracellular vesicle traffic and potentially in calcium-dependent exocytosis in neuroendocrine cells.;

Recessive Scores

pRec: 0.142

Intolerance Scores

LoFtool: 0.0664
RVIS EVS: -0.29
RVIS percentile EVS: 33.34

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.854

Gene Damage Prediction

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