ATOSA

Summary

ATOSA (atos homolog A, HGNC:25609) is a protein-coding gene on chromosome 15q21.2-q21.3, encoding Atos homolog protein A (Q32MH5). Transcription regulator that syncronizes transcriptional and translational programs to promote macrophage invasion of tissues.

Predicted to be located in nucleus.

Source: NCBI Gene 56204 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 161 total
• MANE Select transcript: NM_001385016

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25609
Approved symbol	ATOSA
Name	atos homolog A
Location	15q21.2-q21.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ10980
Ensembl gene	ENSG00000047346
Ensembl biotype	protein_coding
OMIM	620168
Entrez	56204

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 16 protein_coding, 3 retained_intron, 2 nonsense_mediated_decay

ENST00000261844, ENST00000399202, ENST00000534964, ENST00000546305, ENST00000561490, ENST00000561543, ENST00000562135, ENST00000562351, ENST00000566768, ENST00000566948, ENST00000568637, ENST00000568668, ENST00000568863, ENST00000568871, ENST00000570204, ENST00000619572, ENST00000899912, ENST00000922188, ENST00000922189, ENST00000946907, ENST00000946908

RefSeq mRNA: 13 — MANE Select: NM_001385016 NM_001286495, NM_001385013, NM_001385014, NM_001385015, NM_001385016, NM_001385017, NM_001385018, NM_001385019, NM_001385020, NM_001385021, NM_001385022, NM_001385023, NM_019600

CCDS: CCDS45263, CCDS66773

Canonical transcript exons

ENST00000619572 — 13 exons

Exon	Start	End
ENSE00000689425	52608568	52610383
ENSE00000689447	52613673	52613857
ENSE00000884779	52611130	52611255
ENSE00003478816	52611575	52611777
ENSE00003616420	52581321	52582307
ENSE00003632574	52587151	52587219
ENSE00003642010	52593578	52593736
ENSE00003663842	52605133	52605246
ENSE00003673201	52678006	52678122
ENSE00003678050	52601086	52601165
ENSE00003680360	52600127	52600235
ENSE00003681673	52584745	52584944
ENSE00003920690	52678828	52679388

Expression profiles

Bgee: expression breadth ubiquitous, 263 present calls, max score 97.62.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.5111 / max 188.9568, expressed in 1683 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
150037	6.6803	1560
150036	1.9539	835
150034	0.5770	215
150041	0.3632	95
150035	0.3240	126
150039	0.2866	122
150029	0.2108	85
150038	0.1152	53

Top tissues by expression

263 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
upper arm skin	UBERON:0004263	97.62	gold quality
nasal cavity epithelium	UBERON:0005384	96.86	gold quality
body of pancreas	UBERON:0001150	96.49	gold quality
tibialis anterior	UBERON:0001385	96.40	gold quality
cardiac muscle of right atrium	UBERON:0003379	96.30	gold quality
deltoid	UBERON:0001476	96.22	gold quality
mucosa of stomach	UBERON:0001199	96.17	gold quality
oral cavity	UBERON:0000167	95.97	gold quality
right uterine tube	UBERON:0001302	95.97	gold quality
lower esophagus mucosa	UBERON:0035834	95.90	gold quality
gastrocnemius	UBERON:0001388	95.89	gold quality
esophagus squamous epithelium	UBERON:0006920	95.68	gold quality
secondary oocyte	CL:0000655	95.52	gold quality
right lung	UBERON:0002167	95.45	gold quality
epithelium of nasopharynx	UBERON:0001951	95.40	gold quality
tonsil	UBERON:0002372	95.40	gold quality
subcutaneous adipose tissue	UBERON:0002190	95.34	gold quality
muscle of leg	UBERON:0001383	95.31	gold quality
bone marrow cell	CL:0002092	95.22	gold quality
cerebellar hemisphere	UBERON:0002245	95.06	gold quality
minor salivary gland	UBERON:0001830	95.04	gold quality
skeletal muscle organ	UBERON:0014892	95.03	gold quality
cerebellar cortex	UBERON:0002129	95.01	gold quality
left lobe of thyroid gland	UBERON:0001120	94.83	gold quality
cerebellum	UBERON:0002037	94.71	gold quality
pituitary gland	UBERON:0000007	94.67	gold quality
right hemisphere of cerebellum	UBERON:0014890	94.60	gold quality
vastus lateralis	UBERON:0001379	94.55	gold quality
adipose tissue	UBERON:0001013	94.53	gold quality
upper leg skin	UBERON:0004262	94.53	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-6075	no	421.01
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

93 targeting ATOSA, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-7152-3P	99.97	67.47	849
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-218-5P	99.93	72.22	2103
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-1305	99.91	71.43	3443

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	atosa	ENSDARG00000040452
mus_musculus	Atosa	ENSMUSG00000034858
rattus_norvegicus	Atosa	ENSRNOG00000058522

Paralogs (1): ATOSB (ENSG00000005238)

Protein

Protein identifiers

Atos homolog protein A — Q32MH5 (reviewed: Q32MH5)

All UniProt accessions (10): A0A087WV94, Q32MH5, H0Y3Q9, H3BNT9, H3BQ29, H3BSJ2, H3BTD0, H3BU00, H3BUJ2, H3BVB3

UniProt curated annotations — full annotation on UniProt →

Function. Transcription regulator that syncronizes transcriptional and translational programs to promote macrophage invasion of tissues.

Subcellular location. Nucleus.

Domain organisation. The protein contains 2 transactivation domains (TAD). Each of these domains may be required for transcriptional activation of a subset of target genes.

Similarity. Belongs to the ATOS family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q32MH5-1	1	yes
Q32MH5-2	2
Q32MH5-3	3

RefSeq proteins (13): NP_001273424, NP_001371942, NP_001371943, NP_001371944, NP_001371945, NP_001371946, NP_001371947, NP_001371948, NP_001371949, NP_001371950, NP_001371951, NP_001371952, NP_062546 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR025261	Atos-like_cons_dom	Domain
IPR033473	Atos-like_C	Domain
IPR051506	ATOS_Transcription_Regulators	Family

Pfam: PF13889, PF13915

UniProt features (19 total): sequence conflict 7, region of interest 5, splice variant 3, sequence variant 2, chain 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q32MH5-F1	55.15	0.20

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 180 (showing top): AAACCAC_MIR140, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, BASAKI_YBX1_TARGETS_DN, VECCHI_GASTRIC_CANCER_EARLY_DN, ACEVEDO_LIVER_CANCER_UP, CHARAFE_BREAST_CANCER_LUMINAL_VS_MESENCHYMAL_UP, MARSON_BOUND_BY_FOXP3_STIMULATED, MARSON_BOUND_BY_FOXP3_UNSTIMULATED, KRIGE_RESPONSE_TO_TOSEDOSTAT_24HR_UP, ATGTAGC_MIR221_MIR222, HAMAI_APOPTOSIS_VIA_TRAIL_UP, DODD_NASOPHARYNGEAL_CARCINOMA_DN, MIKKELSEN_ES_ICP_WITH_H3K4ME3, MIKKELSEN_NPC_ICP_WITH_H3K4ME3

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (1): nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

480 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ATOSA	LMBRD2	Q68DH5	556
ATOSA	RSL24D1	Q9UHA3	540
ATOSA	MBLAC1	A4D2B0	489
ATOSA	ZFAND2B	Q8WV99	482
ATOSA	ONECUT1	Q9UBC0	476
ATOSA	WDR72	Q3MJ13	460
ATOSA	ZC3H6	P61129	432
ATOSA	PIGO	Q8TEQ8	427
ATOSA	BTBD2	Q9BX70	420
ATOSA	KBTBD4	Q9NVX7	415
ATOSA	HMG20B	Q9P0W2	402
ATOSA	ZDHHC19	Q8WVZ1	399
ATOSA	ISG20L2	Q9H9L3	394
ATOSA	MEX3D	Q86XN8	389
ATOSA	AP4E1	Q9UPM8	388

IntAct

23 interactions, top by confidence:

A	B	Type	Score
ATOSA	TRIM27	psi-mi:“MI:0915”(physical association)	0.560
ATOSA	MAGEA6	psi-mi:“MI:0915”(physical association)	0.560
ATOSA	GOLGA2	psi-mi:“MI:0915”(physical association)	0.560
ATOSA	KRT40	psi-mi:“MI:0915”(physical association)	0.560
MID2	ATOSA	psi-mi:“MI:0915”(physical association)	0.560
ATOSA	SSX2IP	psi-mi:“MI:0915”(physical association)	0.560
MAGEA6	ATOSA	psi-mi:“MI:0915”(physical association)	0.560
KRT40	ATOSA	psi-mi:“MI:0915”(physical association)	0.560
SSX2IP	ATOSA	psi-mi:“MI:0915”(physical association)	0.560
GOLGA2	ATOSA	psi-mi:“MI:0915”(physical association)	0.560
ATOSA		psi-mi:“MI:0915”(physical association)	0.370
CASS4	ATOSA	psi-mi:“MI:0915”(physical association)	0.000
ATOSA	fla AII.2	psi-mi:“MI:0915”(physical association)	0.000
ATOSA	APC	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (12): FAM214A (Two-hybrid), FAM214A (Two-hybrid), FAM214A (Two-hybrid), FAM214A (Two-hybrid), SSX2IP (Two-hybrid), KRT40 (Two-hybrid), FAM214A (Affinity Capture-RNA), FAM214A (Affinity Capture-RNA), FAM214A (Affinity Capture-MS), FAM214A (Affinity Capture-MS), FAM214A (Two-hybrid), FAM214A (Two-hybrid)

ESM2 similar proteins: A2VCV0, A6H8Z2, A8T6P4, C3VD30, F6QRE9, P23497, P23804, P56950, Q00987, Q0P6D6, Q13342, Q1XFL1, Q32MH5, Q4JF29, Q5BLK4, Q5PQX1, Q5VYS8, Q5ZI58, Q60524, Q62187, Q66HD8, Q68FE6, Q69ZK7, Q6DRC5, Q6IE24, Q6NYJ3, Q6P752, Q6PCX9, Q70EL1, Q76N89, Q7L190, Q7T3T8, Q7T3T9, Q7YRZ8, Q7ZUW7, Q80UF7, Q8BL06, Q8BYU6, Q8C627, Q8C9M2

Diamond homologs: Q1LV22, Q32MH5, Q4R676, Q5BIM2, Q5FW46, Q5PQM8, Q5RBA3, Q5ZI58, Q69ZK7, Q7JXG9, Q7L5A3, Q8BR27

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	138
Likely benign	7
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2691 predictions. Top by Δscore:

Variant	Effect	Δscore
15:52582308:CTAA:C	acceptor_loss	1.0000
15:52584741:TTA:T	donor_loss	1.0000
15:52584742:TAC:T	donor_loss	1.0000
15:52584743:A:AC	donor_gain	1.0000
15:52584744:C:CC	donor_gain	1.0000
15:52584744:CCT:C	donor_gain	1.0000
15:52584940:AAGGT:A	acceptor_gain	1.0000
15:52584941:AGGT:A	acceptor_gain	1.0000
15:52584942:GGT:G	acceptor_gain	1.0000
15:52584943:GT:G	acceptor_gain	1.0000
15:52584945:C:CC	acceptor_gain	1.0000
15:52587219:CCT:C	acceptor_gain	1.0000
15:52593734:TTC:T	acceptor_gain	1.0000
15:52593735:TCCT:T	acceptor_loss	1.0000
15:52593736:CCT:C	acceptor_loss	1.0000
15:52593738:T:A	acceptor_loss	1.0000
15:52600236:C:CC	acceptor_gain	1.0000
15:52600239:T:TC	acceptor_gain	1.0000
15:52605131:A:AC	donor_gain	1.0000
15:52605132:C:CC	donor_gain	1.0000
15:52605132:CA:C	donor_gain	1.0000
15:52605132:CAG:C	donor_gain	1.0000
15:52605132:CAGG:C	donor_gain	1.0000
15:52605132:CAGGG:C	donor_gain	1.0000
15:52611185:A:C	donor_gain	1.0000
15:52611573:A:AC	donor_gain	1.0000
15:52611574:C:CC	donor_gain	1.0000
15:52611574:CT:C	donor_gain	1.0000
15:52611574:CTGT:C	donor_gain	1.0000
15:52611779:T:C	acceptor_gain	1.0000

AlphaMissense

7123 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:52582251:A:G	F1045S	0.999
15:52582257:A:G	L1043P	0.999
15:52582305:A:G	F1027S	0.999
15:52584748:A:G	L1025P	0.999
15:52584757:A:G	L1022P	0.999
15:52587158:A:T	I957K	0.999
15:52587164:C:T	G955E	0.999
15:52593681:G:T	A902D	0.999
15:52593686:A:C	F900L	0.999
15:52593686:A:T	F900L	0.999
15:52593687:A:G	F900S	0.999
15:52593688:A:G	F900L	0.999
15:52582275:A:G	L1037P	0.998
15:52584853:C:G	R990P	0.998
15:52584856:A:G	L989P	0.998
15:52584906:A:C	F972L	0.998
15:52584906:A:T	F972L	0.998
15:52584907:A:G	F972S	0.998
15:52584908:A:G	F972L	0.998
15:52584933:A:C	N963K	0.998
15:52584933:A:T	N963K	0.998
15:52584940:A:G	L961S	0.998
15:52587158:A:C	I957R	0.998
15:52587165:C:G	G955R	0.998
15:52587165:C:T	G955R	0.998
15:52587176:A:T	V951E	0.998
15:52587219:C:G	G937R	0.998
15:52593630:A:T	V919D	0.998
15:52611600:A:G	W127R	0.998
15:52611600:A:T	W127R	0.998

dbSNP variants (sampled 300 via entrez): RS1000092484 (15:52618292 G>A), RS1000099162 (15:52634170 T>C), RS1000139272 (15:52616769 C>A,T), RS1000143630 (15:52630151 G>A), RS1000231756 (15:52678548 T>C), RS1000255317 (15:52612111 A>G), RS1000256143 (15:52652790 G>A), RS1000266800 (15:52699210 G>C), RS1000305000 (15:52710808 T>C), RS1000306256 (15:52611980 T>C), RS1000316427 (15:52698985 T>G), RS1000364939 (15:52646762 A>T), RS1000367931 (15:52580980 C>A), RS1000423371 (15:52680267 T>A,G), RS1000424100 (15:52580981 A>C)

Disease associations

OMIM: gene MIM:620168 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST002594_33	Neurofibrillary tangles	5.000000e-06
GCST010242_85	HDL cholesterol levels	3.000000e-08

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0006797	neurofibrillary tangles measurement
EFO:0004612	high density lipoprotein cholesterol measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

54 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	increases expression	3
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	increases expression, increases response to substance	2
Air Pollutants	increases abundance, decreases expression, affects cotreatment	2
Aflatoxin B1	increases expression	2
GSK-J4	increases expression	1
afuresertib	increases expression	1
chloroacetaldehyde	decreases expression	1
alpha-pinene	affects cotreatment, decreases expression, increases abundance	1
trichostatin A	affects expression	1
methylparaben	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	affects expression	1
butyraldehyde	decreases expression	1
potassium chromate(VI)	decreases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, decreases expression	1
methacrylaldehyde	affects cotreatment, decreases expression, increases abundance	1
perfluorooctane sulfonic acid	decreases expression	1
abrine	increases expression	1
bisphenol S	decreases expression, affects cotreatment	1
jinfukang	decreases expression	1
(+)-JQ1 compound	increases expression	1
1-(4-((2-(2-aminopyrimidin-5-yl)-7-methyl-4-morpholinothieno(3,2-d)pyrimidin-6-yl)methyl)piperazin-1-yl)-2-hydroxypropan-1-one	increases expression	1
Rosiglitazone	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Zoledronic Acid	increases expression	1
Cidofovir	decreases expression	1
Acrolein	affects cotreatment, decreases expression, increases abundance	1
Benzo(a)pyrene	increases expression	1
Cadmium	increases abundance, increases expression	1
Cisplatin	decreases expression	1

Clinical trials (associated diseases)

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