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8 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ACTL7B
actin like 7B
Chromosome 9 · 9q31.3
NCBI Gene: 10880Ensembl: ENSG00000148156.8HGNC: HGNC:162UniProt: A0A140VKC6
14PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingstructural molecule activitynucleuscytoplasmAbnormality of the skeletal systemhidradenitis suppurativadiabetes mellitusbronchial disease
✦AI Summary

ACTL7B (actin-like 7B) is a testis-specific actin-related protein (Arp) encoded by an intronless gene on chromosome 9 1. Unlike its paralog ACTL7A, which is widely expressed, ACTL7B is specifically expressed in the testis and prostate, with highest levels in round and elongating spermatids during spermiogenesis 1. The protein localizes to the developing acrosome, spermatid nucleus, and flagellum connecting region 2. ACTL7B functions as a critical regulator of spermatid morphogenesis through interaction with LC8 dynein light chains (DYNLL1 and DYNLL2), which are essential for proper intracellular transport and cytoskeletal organization 3. ACTL7B-deficient mice are infertile with severe spermatogenic defects including acrosomal detachment, membrane disruption, and flagellar malformations beginning at spermiogenesis step 9, ultimately resulting in spermatogenic arrest and autophagy-mediated degradation of abnormal spermatids 32. In humans, ACTL7B loss results in oligoteratozoospermia (OAT) and multiple morphological abnormalities of the flagellum (MMAF), phenotypes that mirror idiopathic male infertility 2. ACTL7B levels are dysregulated in non-obstructive azoospermia patients and may serve as a diagnostic biomarker 4. These findings establish ACTL7B mutations as direct causes of male infertility, with clinical relevance for infertility diagnosis and treatment.

Sources cited
1
ACTL7B is testis-specific, interacts with LC8 dynein light chains, and its deficiency causes severe spermatid defects and male infertility
PMID: 37800308
2
ACTL7B is located on chromosome 9q31 as an intronless gene and is specifically expressed in testis and prostate
PMID: 10373328
3
ACTL7B localizes to acrosome, nucleus, and flagellum connecting region; its ablation causes OAT and MMAF phenotypes
PMID: 36617158
4
ACTL7B is dysregulated in non-obstructive azoospermia and identified as a potential biomarker for azoospermia diagnosis
PMID: 35914715
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.25Weak
hidradenitis suppurativaOpen Targets
0.24Weak
diabetes mellitusOpen Targets
0.20Weak
bronchial diseaseOpen Targets
0.13Weak
bronchopneumoniaOpen Targets
0.13Weak
Lung AbscessOpen Targets
0.13Weak
disorder of pilosebaceous unitOpen Targets
0.13Weak
Umbilical herniaOpen Targets
0.12Weak
ulcer of lower limbOpen Targets
0.12Weak
lobe attachmentOpen Targets
0.12Weak
VertigoOpen Targets
0.12Weak
Abnormality of the gastrointestinal tractOpen Targets
0.12Weak
cardiomyopathyOpen Targets
0.12Weak
adolescent idiopathic scoliosisOpen Targets
0.11Weak
azoospermiaOpen Targets
0.10Suggestive
androgenetic alopeciaOpen Targets
0.09Suggestive
idiopathic pulmonary fibrosisOpen Targets
0.08Suggestive
partial chromosome Y deletionOpen Targets
0.08Suggestive
spermatogenic failure 65Open Targets
0.07Suggestive
spermatogenic failure 93Open Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CFAP410Shared pathway100%CCDC6Shared pathway100%ACTR1BShared pathway100%FTCDShared pathway100%ACTL10Shared pathway100%ACTRT2Shared pathway100%
Tissue Expression6 tissues
Ovary
100%
Liver
100%
Bone Marrow
50%
Lung
50%
Brain
0%
Heart
0%
Gene Interaction Network
Click a node to explore
ACTL7BCFAP410CCDC6ACTR1BFTCDACTL10ACTRT2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9Y614
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.41LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.97 [0.68–1.41]
RankingsWhere ACTL7B stands among ~20K protein-coding genes
  • #15,783of 20,598
    Most Researched14
  • #14,606of 17,882
    Most Constrained (LOEUF)1.41
Genes detectedACTL7B
Sources retrieved8 papers
Response time—
📄 Sources
8▼
1
Actl7b deficiency leads to mislocalization of LC8 type dynein light chains and disruption of murine spermatogenesis.
PMID: 37800308
Development · 2023
1.00
2
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.
PMID: 10373328
Genomics · 1999
0.88
3
Actin-related protein ACTL7B ablation leads to OAT with multiple morphological abnormalities of the flagellum and male infertility in mice†.
PMID: 36617158
Biol Reprod · 2023
0.75
4
Comparative proteomics analysis of human FFPE testicular tissues reveals new candidate biomarkers for distinction among azoospermia types and subtypes.
PMID: 35914715
J Proteomics · 2022
0.63
5
Genetic Polymorphisms within The Intronless ACTL7A and ACTL7B Genes Encoding Spermatogenesis-Specific Actin-Like Proteins in Japanese Males.
PMID: 31310081
Int J Fertil Steril · 2019
0.50