ACTL7B

Summary

ACTL7B (actin like 7B, HGNC:162) is a protein-coding gene on chromosome 9q31.3, encoding Actin-like protein 7B (Q9Y614).

The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene (ACTL7B), and related gene, ACTL7A, are intronless, and are located approximately 4 kb apart in a head-to-head orientation within the familial dysautonomia candidate region on 9q31. Based on mutational analysis of the ACTL7B gene in patients with this disorder, it was concluded that it is unlikely to be involved in the pathogenesis of dysautonomia. Unlike ACTL7A, the ACTL7B gene is expressed predominantly in the testis, however, its exact function is not known.

Source: NCBI Gene 10880 — RefSeq curated summary.

At a glance

• GWAS associations: 9
• Clinical variants (ClinVar): 99 total
• GTEx eGene: eQTL in 1 tissue, sQTL in 0 (q < 0.05)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.41 (unconstrained)
• MANE Select transcript: NM_006686
• Notable: 99 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:162
Approved symbol	ACTL7B
Name	actin like 7B
Location	9q31.3
Locus type	gene with protein product
Status	Approved
Aliases	Tact1
Ensembl gene	ENSG00000148156
Ensembl biotype	protein_coding
OMIM	604304
Entrez	10880

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

MANE Select: ENST00000374667

ENST00000374667

RefSeq mRNA: 1 — MANE Select: NM_006686 NM_006686

CCDS: CCDS6771

Canonical transcript exons

ENST00000374667 — 1 exons

Exon	Start	End
ENSE00001464207	108854588	108855986

Expression profiles

Bgee: expression breadth broad, 47 present calls, max score 97.90.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1086 / max 112.7712, expressed in 3 samples.

Highest expression (Bgee): testis, male germ line stem cell (sensu Vertebrata) in testis, adult organism, sperm, male germ cell.

Genetic regulation across tissues (GTEx eQTL / sQTL)

ACTL7B is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 1 tissue and its splicing (sQTL) in 0 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

1 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Testis	eqtl	3.8e-11	-0.13	9:108856029:T:C

FANTOM5 promoters

1 alternative TSS:

Promoter ID	TPM avg	Samples expressed
101859	0.1086	3

Top tissues by expression

showing 100 of 232 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	97.90	gold quality
right testis	UBERON:0004534	97.75	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	96.32	gold quality
testis	UBERON:0000473	94.73	gold quality
adult organism	UBERON:0007023	89.79	gold quality
sperm	CL:0000019	85.95	silver quality
male germ cell	CL:0000015	85.89	gold quality
heart right ventricle	UBERON:0002080	61.35	gold quality
secondary oocyte	CL:0000655	58.43	gold quality
ileal mucosa	UBERON:0000331	57.67	silver quality
tendon of biceps brachii	UBERON:0008188	56.36	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	55.85	gold quality
myocardium	UBERON:0002349	55.48	gold quality
trabecular bone tissue	UBERON:0002483	55.36	gold quality
vena cava	UBERON:0004087	54.65	gold quality
pons	UBERON:0000988	53.79	gold quality
oral cavity	UBERON:0000167	51.69	gold quality
granulocyte	CL:0000094	51.11	silver quality
buccal mucosa cell	CL:0002336	51.09	gold quality
bone marrow	UBERON:0002371	50.94	gold quality
quadriceps femoris	UBERON:0001377	50.80	gold quality
vastus lateralis	UBERON:0001379	50.79	gold quality
medial globus pallidus	UBERON:0002477	50.24	gold quality
lower lobe of lung	UBERON:0008949	50.23	silver quality
Brodmann (1909) area 46	UBERON:0006483	49.30	gold quality
blood vessel layer	UBERON:0004797	49.29	gold quality
cervix squamous epithelium	UBERON:0006922	49.20	gold quality
hair follicle	UBERON:0002073	49.18	gold quality
sural nerve	UBERON:0015488	48.95	gold quality
olfactory bulb	UBERON:0002264	48.92	gold quality
choroid plexus epithelium	UBERON:0003911	48.89	gold quality
type B pancreatic cell	CL:0000169	48.83	gold quality
cardiac muscle of right atrium	UBERON:0003379	48.55	gold quality
CA1 field of hippocampus	UBERON:0003881	48.50	gold quality
oviduct epithelium	UBERON:0004804	48.45	gold quality
left ventricle myocardium	UBERON:0006566	48.24	gold quality
orbitofrontal cortex	UBERON:0004167	48.20	gold quality
oocyte	CL:0000023	48.15	gold quality
upper arm skin	UBERON:0004263	48.06	gold quality
cervix epithelium	UBERON:0004801	48.04	gold quality
globus pallidus	UBERON:0001875	47.99	gold quality
tongue squamous epithelium	UBERON:0006919	47.92	gold quality
epithelial cell of pancreas	CL:0000083	47.88	gold quality
mucosa of urinary bladder	UBERON:0001259	47.80	gold quality
nasal cavity epithelium	UBERON:0005384	47.70	gold quality
thymus	UBERON:0002370	47.42	gold quality
nephron tubule	UBERON:0001231	47.40	gold quality
kidney epithelium	UBERON:0004819	47.20	gold quality
periodontal ligament	UBERON:0008266	47.14	gold quality
diaphragm	UBERON:0001103	47.05	gold quality
gluteal muscle	UBERON:0002000	47.03	gold quality
triceps brachii	UBERON:0001509	47.01	gold quality
renal glomerulus	UBERON:0000074	46.99	gold quality
metanephric glomerulus	UBERON:0004736	46.96	gold quality
deltoid	UBERON:0001476	46.17	gold quality
mammalian vulva	UBERON:0000997	46.04	gold quality
biceps brachii	UBERON:0001507	45.81	gold quality
layer of synovial tissue	UBERON:0007616	45.76	gold quality
nasal cavity mucosa	UBERON:0001826	45.59	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	45.35	gold quality
inferior olivary complex	UBERON:0002127	45.14	gold quality
muscle tissue	UBERON:0002385	45.02	gold quality
skeletal muscle tissue	UBERON:0001134	44.98	gold quality
amniotic fluid	UBERON:0000173	43.93	gold quality
right coronary artery	UBERON:0001625	43.82	gold quality
squamous epithelium	UBERON:0006914	43.42	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
embryo	UBERON:0000922	43.23	gold quality
epithelium of bronchus	UBERON:0002031	42.92	gold quality
epithelium of esophagus	UBERON:0001976	42.87	gold quality
pharyngeal mucosa	UBERON:0000355	42.82	gold quality
bronchus	UBERON:0002185	42.80	gold quality
body of tongue	UBERON:0011876	42.71	gold quality
tibialis anterior	UBERON:0001385	42.59	silver quality
bone marrow cell	CL:0002092	42.58	gold quality
colonic mucosa	UBERON:0000317	42.08	gold quality
cartilage tissue	UBERON:0002418	42.04	gold quality
medulla oblongata	UBERON:0001896	41.74	gold quality
tongue	UBERON:0001723	41.42	gold quality
mucosa of sigmoid colon	UBERON:0004993	41.42	gold quality
dorsal plus ventral thalamus	UBERON:0001897	41.34	gold quality
superficial temporal artery	UBERON:0001614	41.33	gold quality
epithelium of mammary gland	UBERON:0003244	41.33	gold quality
ventral tegmental area	UBERON:0002691	41.25	gold quality
palpebral conjunctiva	UBERON:0001812	41.10	gold quality
trachea	UBERON:0003126	41.02	gold quality
mucosa of paranasal sinus	UBERON:0005030	40.98	gold quality
pancreatic ductal cell	CL:0002079	40.84	silver quality
jejunal mucosa	UBERON:0000399	40.59	gold quality
blood	UBERON:0000178	40.54	silver quality
epithelium of nasopharynx	UBERON:0001951	40.45	gold quality
gingival epithelium	UBERON:0001949	40.43	gold quality
germinal epithelium of ovary	UBERON:0001304	40.33	gold quality
esophagus squamous epithelium	UBERON:0006920	40.29	gold quality
jejunum	UBERON:0002115	40.18	gold quality
cranial nerve II	UBERON:0000941	40.12	silver quality
bronchial epithelial cell	CL:0002328	40.05	gold quality
mammary duct	UBERON:0001765	39.98	gold quality
placenta	UBERON:0001987	39.88	gold quality
saphenous vein	UBERON:0007318	39.83	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.00

HPA expression

RNA tissue specificity: Tissue enriched

5 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Testis	tissue	52.7	high
Nucleus accumbens	tissue	0.1
Locus coeruleus	tissue	0.1
Hippocampus	tissue	0.1	not detected
Hippocampal formation	tissue	0.1

Brain sub-regions (HPA Brain Atlas): detected in 98; highest nTPM — Arcuate nucleus (0.2), Area parastriata, temporal (0.2), Lingual gyrus (0.2), Precentral gyrus (0.2), Angular gyrus (0.1).

Regulation

Is transcription factor: no

Functional genomics

gnomAD constraint: pLI 1.89e-07, LOEUF 1.41, missense Z -0.61 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000374667 — one region, missense o/e 1.04.

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Actl7b	ENSMUSG00000070980
rattus_norvegicus	Actl7b	ENSRNOG00000016621

Paralogs (26): ACTR6 (ENSG00000075089), ACTB (ENSG00000075624), ACTL6B (ENSG00000077080), ACTR5 (ENSG00000101442), ACTR3C (ENSG00000106526), ACTA2 (ENSG00000107796), ACTR8 (ENSG00000113812), ACTR1B (ENSG00000115073), ACTR3 (ENSG00000115091), ACTL8 (ENSG00000117148), ACTRT1 (ENSG00000123165), ACTR10 (ENSG00000131966), ACTR3B (ENSG00000133627), ACTL6A (ENSG00000136518), ACTR2 (ENSG00000138071), ACTR1A (ENSG00000138107), ACTA1 (ENSG00000143632), ACTC1 (ENSG00000159251), ACTG2 (ENSG00000163017), ACTBL2 (ENSG00000169067), ACTRT2 (ENSG00000169717), ACTL9 (ENSG00000181786), ACTG1 (ENSG00000184009), ACTRT3 (ENSG00000184378), ACTL7A (ENSG00000187003), ACTL10 (ENSG00000288649)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1343053) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 21 distinct phenotype terms.

Mouse phenotype (MP)	Records
male infertility	2
abnormal urinary bladder morphology	1
small testis	1
abnormal spermiogenesis	1
asthenozoospermia	1
oligozoospermia	1
decreased testis weight	1
decreased epididymis weight	1
teratozoospermia	1
abnormal sperm flagellum morphology	1
abnormal sperm head morphology	1
abnormal sperm nucleus morphology	1
abnormal sperm connecting piece morphology	1
abnormal sperm midpiece morphology	1
abnormal sperm mitochondrial sheath morphology	1
absent sperm mitochondrial sheath	1
abnormal sperm annulus morphology	1
abnormal seminiferous tubule epithelium morphology	1
increased male germ cell apoptosis	1
decreased sperm progressive motility	1
abnormal outer dense fiber morphology	1

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Macaca fascicularis	Q4R6Q3	98.6%	Diamond
Bos taurus	Q32L91	89.0%	Diamond
Debaryomyces hansenii CBS767	Q6BXN0	73.9%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
ACTL7A	protein-coding	10881
ABITRAM	protein-coding	54942
ELP1	protein-coding	8518
CTNNAL1	protein-coding	8727

Protein

Protein identifiers

Actin-like protein 7B — Q9Y614 (reviewed: Q9Y614)

Alternative names: Actin-like-7-beta

All UniProt accessions (2): A0A140VKC6, Q9Y614

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Cytoplasm. Cytoskeleton.

Tissue specificity. Detected only in the testis and, to a lesser extent, in the prostate.

Similarity. Belongs to the actin family.

RefSeq proteins (1): NP_006677* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004000	Actin	Family
IPR043129	ATPase_NBD	Homologous_superfamily

Pfam: PF00022

UniProt features (3 total): chain 1, region of interest 1, modified residue 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y614-F1	88.35	0.80

Human Protein Atlas

Protein class: Predicted intracellular proteins

Protein evidence: Evidence at protein level

Antibody reliability (HPA): IH enhanced

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1)

Type	Positions
Phosphoserine	6

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

MSigDB gene sets: 38 (showing top): GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, YGACNNYACAR_UNKNOWN, GNF2_CCNA1, GOMF_STRUCTURAL_CONSTITUENT_OF_CYTOSKELETON, DODD_NASOPHARYNGEAL_CARCINOMA_DN, GOMF_STRUCTURAL_MOLECULE_ACTIVITY, MEISSNER_NPC_HCP_WITH_H3_UNMETHYLATED, MEISSNER_BRAIN_HCP_WITH_H3_UNMETHYLATED, ICHIBA_GRAFT_VERSUS_HOST_DISEASE_D7_DN, MIKKELSEN_MEF_HCP_WITH_H3_UNMETHYLATED, MARTENS_TRETINOIN_RESPONSE_UP, GSE13547_CTRL_VS_ANTI_IGM_STIM_BCELL_2H_DN, GSE13484_UNSTIM_VS_12H_YF17D_VACCINE_STIM_PBMC_DN, GSE8685_IL2_ACT_IL2_STARVED_VS_IL21_ACT_IL2_STARVED_CD4_TCELL_DN, GSE17721_PAM3CSK4_VS_CPG_8H_BMDC_UP

GO Biological Process (1): cytoskeleton organization (GO:0007010)

GO Molecular Function (3): structural molecule activity (GO:0005198), structural constituent of cytoskeleton (GO:0005200), protein binding (GO:0005515)

GO Cellular Component (4): nucleus (GO:0005634), cytoplasm (GO:0005737), actin cytoskeleton (GO:0015629), cytoskeleton (GO:0005856)

GO top-level categories

10 GO namespaces:

Category	Terms
cytoskeleton	2
organelle organization	1
molecular_function	1
structural molecule activity	1
cytoskeleton organization	1
binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cellular anatomical structure	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

showing 15 of 1,445 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ACTL7B	CTNNAL1	Q9UBT7	928
ACTL7B	ODF1	Q14990	446
ACTL7B	TEX38	Q6PEX7	440
ACTL7B	A0A1W2PNV4	A0A1W2PNV4	429
ACTL7B	CAPZA3	Q96KX2	405
ACTL7B	ELP1	O95163	365
ACTL7B	ODF4	Q2M2E3	349
ACTL7B	PDHA2	P29803	332
ACTL7B	C6orf118	Q5T5N4	320
ACTL7B	CCDC159	P0C7I6	320
ACTL7B	MEIG1	Q5JSS6	320
ACTL7B	SPATA16	Q9BXB7	315
ACTL7B	CFAP74	Q9C0B2	315
ACTL7B	TEX35	Q5T0J7	313
ACTL7B	CNBD2	Q96M20	310

IntAct

Human interaction partners of ACTL7B in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

4 partners by confidence:

Partner	Interaction type	MIscore	Records
CASP6	physical association	0.560	3
HIP1	physical association	0.560	3
LAMP2	physical association	0.560	3
RAN	physical association	0.560	3

BioGRID (3 interactions; top human partners by supporting records): APP (Reconstituted Complex), DVL2 (Affinity Capture-MS), POLI (Reconstituted Complex)

Disease & clinical

Genetic variants

Variant evidence for ACTL7B: 99 ClinVar records (0 pathogenic / likely pathogenic); 9 GWAS associations.

ClinVar

99 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	92
Likely benign	5
Benign	2

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 10 predictions of 24):

Position(s)	Effect	Δscore	Sites
9:108855361	donor_gain	0.4900
9:108855050	donor_gain	0.4600
9:108855008	donor_gain	0.3800
9:108854856	donor_gain	0.3400
9:108855019	acceptor_gain	0.3400
9:108855073	donor_gain	0.3200
9:108855400	donor_gain	0.3100
9:108855019	acceptor_gain	0.3000
9:108855212	donor_gain	0.2900
9:108855004	donor_gain	0.2800

AlphaMissense

604 missense substitutions predicted likely pathogenic (of 2,712 scored), across 193 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
F303	8	0.940	0.981
D55	8	0.928	0.950
F393	8	0.897	0.988
F351	8	0.855	0.981
W381	7	0.984	0.996
F168	7	0.933	0.964
W123	7	0.909	0.974
R376	7	0.893	0.973
W397	7	0.875	0.974
F296	7	0.813	0.962
F403	7	0.812	0.960
K256	6	0.960	0.997
K62	6	0.951	0.990
G383	6	0.923	0.988
G200	6	0.918	0.972
G343	6	0.915	0.982
G57	6	0.914	0.970
G64	6	0.908	0.975
P71	6	0.906	0.979
G226	6	0.877	0.962

HPA cancer prognostics

RNA cancer specificity: Not detected

Disease associations

OMIM: gene MIM:604304 | disease phenotypes:

GWAS associations

9 associations:

Study	Trait	p-value
GCST010866_133	Coronary artery disease	1e-13
GCST006979_862	Heel bone mineral density	4e-12
GCST90013442_12	Keratoconus	3e-11
GCST006979_219	Heel bone mineral density	2e-9
GCST90000654_12	Central corneal thickness	2e-9
GCST006979_220	Heel bone mineral density	3e-9
GCST002652_8	Cotinine glucuronidation	2e-8
GCST002074_6	Paclitaxel-induced neuropathy	6e-6
GCST009391_550	Metabolite levels	7e-6

EFO canonical traits (from GWAS)

4 canonical traits:

EFO ID	Trait name
EFO:0006508	cotinine glucuronidation measurement
EFO:0009270	heel bone mineral density
EFO:0010117	pyruvate measurement
EFO:0005213	central corneal thickness

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

11 total (human), top 11 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases methylation	2
aristolochic acid I	increases expression	1
bisphenol A	decreases expression	1
2,4,5,2’,4’,5’-hexachlorobiphenyl	decreases expression	1
3,4,5,3’,4’-pentachlorobiphenyl	decreases expression	1
perfluorooctanoic acid	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
Benzo(a)pyrene	increases methylation	1
Cadmium	increases abundance, decreases expression	1
Cadmium Chloride	decreases expression, increases abundance	1
Permethrin	increases expression	1

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.