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): 100 total
• MANE Select transcript: NM_006686

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

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.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
101859	0.1086	3

Top tissues by expression

232 total, 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

Single-cell (SCXA)

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

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

Regulation

Is transcription factor: no

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)

Protein

Protein identifiers

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

Alternative names: Actin-like-7-beta

All UniProt accessions (2): Q9Y614, A0A140VKC6

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

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

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

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): 6

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

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 (2): 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

Rollup of top GO terms by namespace:

Category	Terms
cytoskeleton	2
organelle organization	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

2142 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ACTL7B	CTNNAL1	Q9UBT7	935
ACTL7B	TBCB	Q99426	523
ACTL7B	ODF1	Q14990	521
ACTL7B	A0A1W2PNV4	A0A1W2PNV4	489
ACTL7B	TUBB6	Q9BUF5	482
ACTL7B	TEX38	Q6PEX7	437
ACTL7B	PDHA2	P29803	419
ACTL7B	CAPZA3	Q96KX2	405
ACTL7B	C6orf118	Q5T5N4	400
ACTL7B	FREY1	C9JXX5	398
ACTL7B	CFAP74	Q9C0B2	398
ACTL7B	FAM194C	Q8ND61	393
ACTL7B	IL2	P01585	388
ACTL7B	OR1L1	Q8NH94	372
ACTL7B	RIMBP3C	A6NJZ7	370

IntAct

12 interactions, top by confidence:

A	B	Type	Score
CASP6	ACTL7B	psi-mi:“MI:0915”(physical association)	0.560
HIP1	ACTL7B	psi-mi:“MI:0915”(physical association)	0.560
LAMP2	ACTL7B	psi-mi:“MI:0915”(physical association)	0.560
RAN	ACTL7B	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (2): ACTL7B (Affinity Capture-MS), APP (Reconstituted Complex)

ESM2 similar proteins: A0JNU3, A2AKE7, A6H603, A6QQ74, D3ZBP4, F1MH07, O43542, Q149M9, Q2T9W4, Q2TA43, Q2V057, Q32KZ2, Q32L91, Q3ZBE0, Q49HH9, Q49KI5, Q4QR76, Q4R317, Q4R6Q3, Q4R821, Q5JWF8, Q5REQ1, Q5XIK1, Q641W9, Q643R3, Q68FW7, Q6AY16, Q6NVG1, Q76HM9, Q86U10, Q8CG27, Q8K4F6, Q8TC94, Q8TDG2, Q8TDY3, Q8TDZ2, Q8VCZ9, Q8VDP3, Q8VEI3, Q95JK8

Diamond homologs: A2AKE7, A2BDB0, A3C6D7, O17320, O18840, O65314, O93400, P02572, P02576, P02578, P07828, P07829, P07830, P0C539, P10984, P10995, P12432, P12433, P12716, P18602, P20904, P29751, P30163, P41339, P41341, P43239, P45520, P48975, P49055, P49128, P53458, P53459, P53465, P53470, P53471, P53472, P53477, P53478, P53479, P53498

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	93
Likely benign	5
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

46 predictions. Top by Δscore:

Variant	Effect	Δscore
9:108855827:GCACC:G	acceptor_loss	0.4600
9:108855828:CACC:C	acceptor_loss	0.4600
9:108855829:ACCTG:A	acceptor_loss	0.4600
9:108855830:CC:C	acceptor_loss	0.4600
9:108855831:C:G	acceptor_loss	0.4600
9:108855832:T:A	acceptor_loss	0.4600
9:108855833:G:C	acceptor_loss	0.4600
9:108855847:GGCGT:G	acceptor_loss	0.4600
9:108855848:GCGTC:G	acceptor_loss	0.4600
9:108855849:CGT:C	acceptor_loss	0.4600
9:108855850:GTC:G	acceptor_loss	0.4600
9:108855851:TCAGG:T	acceptor_loss	0.4600
9:108855852:CAGGG:C	acceptor_loss	0.4600
9:108855853:A:C	acceptor_loss	0.4500
9:108855839:CGGAG:C	acceptor_loss	0.4400
9:108855840:GGAGG:G	acceptor_loss	0.4400
9:108855846:TGGCG:T	acceptor_loss	0.4300
9:108855838:CCGGA:C	acceptor_loss	0.4100
9:108855841:GAGG:G	acceptor_loss	0.4000
9:108855837:CCCGG:C	acceptor_loss	0.3600
9:108855798:T:A	acceptor_loss	0.3500
9:108855840:G:GA	acceptor_gain	0.3300
9:108855842:AGG:A	acceptor_loss	0.3200
9:108855854:G:T	acceptor_loss	0.3200
9:108855836:T:TA	acceptor_gain	0.3100
9:108855843:GGCTG:G	acceptor_loss	0.3100
9:108855844:GCTGG:G	acceptor_loss	0.3100
9:108855845:CTGGC:C	acceptor_loss	0.3100
9:108855694:C:CT	acceptor_gain	0.2600
9:108855835:G:GC	acceptor_loss	0.2600

AlphaMissense

2712 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:108855163:C:A	K256N	0.997
9:108855163:C:G	K256N	0.997
9:108854790:A:G	W381R	0.996
9:108854790:A:T	W381R	0.996
9:108855334:G:C	S199R	0.995
9:108855334:G:T	S199R	0.995
9:108855336:T:G	S199R	0.995
9:108854780:C:T	G384D	0.991
9:108854788:C:A	W381C	0.990
9:108854788:C:G	W381C	0.990
9:108855745:C:A	K62N	0.990
9:108855745:C:G	K62N	0.990
9:108854752:G:C	F393L	0.988
9:108854752:G:T	F393L	0.988
9:108854754:A:G	F393L	0.988
9:108854783:C:T	G383D	0.988
9:108855233:A:G	L233P	0.988
9:108855350:C:T	G194E	0.987
9:108854778:A:G	S385P	0.983
9:108854781:C:G	G384R	0.982
9:108854870:C:G	R354P	0.982
9:108854903:C:A	G343V	0.982
9:108854855:A:G	L359P	0.981
9:108854879:A:G	F351S	0.981
9:108855022:G:C	F303L	0.981
9:108855022:G:T	F303L	0.981
9:108855024:A:G	F303L	0.981
9:108855151:G:C	C260W	0.981
9:108855039:A:G	C298R	0.980
9:108855305:A:T	I209K	0.980

dbSNP variants (sampled 300 via entrez): RS1000009263 (9:108857494 C>A,G), RS1000082473 (9:108857212 T>C), RS1001023788 (9:108856035 T>A,C,G), RS1002664862 (9:108855300 C>A,T), RS1002941755 (9:108857077 T>C), RS1004638953 (9:108857757 G>A), RS1006498928 (9:108857768 C>A), RS1007488183 (9:108856981 G>A,C), RS1007570263 (9:108856132 C>G,T), RS1007984250 (9:108855165 T>C), RS1008274935 (9:108856708 T>C), RS1011621880 (9:108854263 C>A), RS1012400780 (9:108855521 G>C), RS1013829913 (9:108854839 G>A,T), RS1014085725 (9:108856964 A>G,T)

Disease associations

OMIM: gene MIM:604304 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

9 associations (top):

Study	Trait	p-value
GCST002074_6	Paclitaxel-induced neuropathy	6.000000e-06
GCST002652_8	Cotinine glucuronidation	2.000000e-08
GCST006979_169	Heel bone mineral density	2.000000e-09
GCST006979_170	Heel bone mineral density	3.000000e-09
GCST006979_812	Heel bone mineral density	4.000000e-12
GCST009391_525	Metabolite levels	7.000000e-06
GCST010866_137	Coronary artery disease	1.000000e-13
GCST90000654_46	Central corneal thickness	2.000000e-09
GCST90013442_12	Keratoconus	3.000000e-11

EFO canonical traits (4, from GWAS)

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 (VIP=true, CPIC=false)

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	decreases expression, increases abundance	1
Cadmium Chloride	increases abundance, decreases expression	1
Permethrin	increases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.