ACTL7B

Chr 9

actin like 7B

Also known as: Tact1

NCBI Gene: 10880ENSG00000148156UniProt: Q9Y614OMIM: 604304

This gene encodes an actin-related protein with an ATP-binding domain that is involved in diverse cellular processes including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling, with predominant expression in testis. The gene shows very low constraint against loss-of-function variants and no established disease associations have been reported in the medical literature. Clinical significance of variants in this gene remains unclear.

OMIMResearchSummary from RefSeq
LOEUF 1.57
Clinical Summary— ACTL7B
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.57LOEUF
pLI 0.000
Z-score 0.25
OE 0.91 (0.55–1.57)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.51Z-score
OE missense 0.92 (0.83–1.01)
268 obs / 292.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.91 (0.55–1.57)
0≤0.351.4
Missense OE0.92 (0.83–1.01)
0≤0.61.4
Synonymous OE0.93
0≤1.21.6
LoF obs/exp: 9 / 9.9Missense obs/exp: 268 / 292.6Syn Z: 0.60

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ACTL7B · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Novel Nuclear Roles for Testis-Specific ACTL7A and ACTL7B Supported by In Vivo Characterizations and AI Facilitated In Silico Mechanistic Modeling with Implications for Epigenetic Regulation in Spermiogenesis
Ferrer P et al.·bioRxiv
2024Functional
Transcriptome-wide study of mRNAs modified by m6A RNA methylation in the testis development of dairy goats
Ren X et al.·Anim Biotechnol
2025
Identification of genes associated with litter size combining genomic approaches in Luzhong mutton sheep.
Tao L et al.·Anim Genet
2021
Exploring socio-economic, biochemical, and genetic factors influencing thyroid status in Indian school-going adolescents.
Nair JM et al.·J Hum Genet
2025
Comparative proteomics analysis of human FFPE testicular tissues reveals new candidate biomarkers for distinction among azoospermia types and subtypes.
Davalieva K et al.·J Proteomics
2022
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Actl7b deficiency leads to mislocalization of LC8 type dynein light chains and disruption of murine spermatogenesis.
Merges GE et al.·Development
2023Open Access
Actin-related protein ACTL7B ablation leads to OAT with multiple morphological abnormalities of the flagellum and male infertility in mice†.
Clement TM et al.·Biol Reprod
2023
Genetic Polymorphisms within The Intronless ACTL7A and ACTL7B Genes Encoding Spermatogenesis-Specific Actin-Like Proteins in Japanese Males.
Tanaka H et al.·Int J Fertil Steril
2019Open Access
Methylation of CpG dinucleotides in the open reading frame of a testicular germ cell-specific intronless gene, Tact1/Actl7b, represses its expression in somatic cells.
Hisano M et al.·Nucleic Acids Res
2003
Cloning, mapping, and expression of two novel actin genes, actin-like-7A (ACTL7A) and actin-like-7B (ACTL7B), from the familial dysautonomia candidate region on 9q31.
Chadwick BP et al.·Genomics
1999
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients