TMF1

Chr 3

TATA element modulatory factor 1

Also known as: ARA160, TMF

NCBI Gene: 7110 ENSG00000144747 UniProt: P82094

TMF1 encodes a transcriptional coactivator that regulates androgen receptor signaling and mediates retrograde transport processes between cellular compartments including the Golgi apparatus and endoplasmic reticulum. The gene is highly constrained against loss-of-function variants (LOEUF 0.502), but no human disease associations have been established for TMF1 mutations to date.

ResearchSummary from RefSeq, UniProt

Enables nuclear androgen receptor binding activity and transcription coactivator activity. Involved in androgen receptor signaling pathway and positive regulation of transcription by RNA polymerase II. Located in Golgi apparatus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.50

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.50LOEUF

pLI 0.000

Z-score 4.54

OE 0.34 (0.24–0.50)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

0.42Z-score

OE missense 0.95 (0.88–1.02)

517 obs / 544.4 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.34 (0.24–0.50)

0≤0.351.4

Missense OE?0.95 (0.88–1.02)

0≤0.61.4

Synonymous OE?1.11

0≤1.21.6

LoF obs/exp: 19 / 55.5Missense obs/exp: 517 / 544.4Syn Z: -1.22

Background carrier burden — how many people carry a rare variant somewhere in TMF1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 56

1,366 rare PASS variants

Rare truncating (LoF)

1 in 1,700

142 rare PASS variants

Rare synonymous (reference)

1 in 96

500 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for TMF1. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

Exome coverage (gnomAD): 16 of 17 coding exons well covered in gnomAD exomes; exon 13 marginal. Genomes: all 17.? see exons ↓