NAA20

Summary

NAA20 (N-alpha-acetyltransferase 20, NatB catalytic subunit, HGNC:15908) is a protein-coding gene on chromosome 20p11.23, encoding N-alpha-acetyltransferase 20 (P61599). Catalytic subunit of the NatB complex which catalyzes acetylation of the N-terminal methionine residues of peptides beginning with Met-Asp, Met-Glu, Met-Asn and Met-Gln. It is a selective cancer dependency (DepMap: 83.1% of cell lines).

NAT5 is a component of N-acetyltransferase complex B (NatB). Human NatB performs cotranslational N(alpha)-terminal acetylation of methionine residues when they are followed by asparagine (Starheim et al., 2008 [PubMed 18570629]).

Source: NCBI Gene 51126 — RefSeq curated summary.

At a glance

• Gene–disease (curated): intellectual developmental disorder, autosomal recessive 73 (Strong, GenCC)
• GWAS associations: 1
• Clinical variants (ClinVar): 27 total — 1 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 39
• Cancer dependency (DepMap): dependent in 83.1% of screened cell lines
• MANE Select transcript: NM_016100

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15908
Approved symbol	NAA20
Name	N-alpha-acetyltransferase 20, NatB catalytic subunit
Location	20p11.23
Locus type	gene with protein product
Status	Approved
Aliases	dJ1002M8.1, NAT3
Ensembl gene	ENSG00000173418
Ensembl biotype	protein_coding
OMIM	610833
Entrez	51126

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 5 protein_coding, 3 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000310450, ENST00000334982, ENST00000398602, ENST00000463154, ENST00000480550, ENST00000481837, ENST00000484480, ENST00000876934, ENST00000932064

RefSeq mRNA: 3 — MANE Select: NM_016100 NM_016100, NM_181527, NM_181528

CCDS: CCDS13141, CCDS13142, CCDS42854

Canonical transcript exons

ENST00000334982 — 6 exons

Exon	Start	End
ENSE00001913677	20033102	20033655
ENSE00001921977	20017362	20017449
ENSE00003532644	20025677	20025767
ENSE00003582376	20032508	20032653
ENSE00003653254	20022456	20022480
ENSE00003669249	20026784	20026919

Expression profiles

Bgee: expression breadth ubiquitous, 256 present calls, max score 99.07.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 37.7464 / max 221.5980, expressed in 1814 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
183764	34.8263	1813
183763	2.9201	1527

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
islet of Langerhans	UBERON:0000006	99.07	gold quality
lower esophagus mucosa	UBERON:0035834	98.85	gold quality
esophagus mucosa	UBERON:0002469	98.63	gold quality
tibialis anterior	UBERON:0001385	98.30	gold quality
pharyngeal mucosa	UBERON:0000355	98.16	gold quality
gingival epithelium	UBERON:0001949	98.08	gold quality
gingiva	UBERON:0001828	98.02	gold quality
esophagus squamous epithelium	UBERON:0006920	97.99	gold quality
oral cavity	UBERON:0000167	97.84	gold quality
upper arm skin	UBERON:0004263	97.59	gold quality
pancreas	UBERON:0001264	97.52	gold quality
body of pancreas	UBERON:0001150	97.49	gold quality
right testis	UBERON:0004534	97.35	gold quality
deltoid	UBERON:0001476	97.22	gold quality
left testis	UBERON:0004533	97.20	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	97.16	gold quality
decidua	UBERON:0002450	97.01	gold quality
gastrocnemius	UBERON:0001388	97.00	gold quality
esophagus	UBERON:0001043	96.92	gold quality
body of tongue	UBERON:0011876	96.90	gold quality
adult organism	UBERON:0007023	96.87	gold quality
muscle of leg	UBERON:0001383	96.80	gold quality
smooth muscle tissue	UBERON:0001135	96.68	gold quality
mouth mucosa	UBERON:0003729	96.62	gold quality
epithelial cell of pancreas	CL:0000083	96.47	gold quality
left lobe of thyroid gland	UBERON:0001120	96.46	gold quality
minor salivary gland	UBERON:0001830	96.41	gold quality
testis	UBERON:0000473	96.33	gold quality
left adrenal gland	UBERON:0001234	96.31	gold quality
adult mammalian kidney	UBERON:0000082	96.28	gold quality

Single-cell (SCXA)

Detected in 8 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-CURD-7	yes	1544.95
E-HCAD-31	yes	39.17
E-MTAB-5061	yes	31.21
E-GEOD-81608	no	16.97
E-ENAD-27	no	10.99
E-GEOD-83139	no	8.99
E-CURD-112	no	3.82
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

49 targeting NAA20, 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-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-3912-5P	99.95	66.11	925
HSA-MIR-22-3P	99.93	68.13	917
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-10523-5P	99.91	69.22	2038
HSA-MIR-3140-3P	99.88	68.47	2069
HSA-MIR-5003-3P	99.85	69.29	2517
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-320A-3P	99.77	69.73	2107
HSA-MIR-320B	99.77	69.73	2107
HSA-MIR-320C	99.77	69.73	2107
HSA-MIR-320D	99.77	69.73	2107
HSA-MIR-4429	99.77	69.62	2111
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-4422	99.72	72.07	2908
HSA-MIR-6715B-5P	99.64	69.63	1420

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 83.1% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 8)

• Human N-acetyltransferase complexe NatB consists of human N-acetyltransferase 3 and human MDM20. hNAT3 knockdown results in an increase in G(0)/G(1)-phase cells. (PMID:18570629)
• hNat3 (NAT5) is the catalytic subunit and hMdm20 the auxiliary subunit of the human NatB N-terminal acetyltransferase complex. This ribosome associated complex acetylates nascent Met-Asp/Glu- polypeptides. (PMID:18570629)
• The human NatB complex composed of Naa20 (NAT3) and Naa25 (MDM20) N-terminally acetylates Met-Glu-, Met-Asp-, Met-Asn- and Met-Gln- N-termini, and is important for the structure and function of actomyosin fibers and for proper cellular migration. (PMID:22814378)
• Maturation of NAA20 Aminoterminal End Is Essential to Assemble NatB N-Terminal Acetyltransferase Complex. (PMID:32976911)
• Naa20, the catalytic subunit of NatB complex, contributes to hepatocellular carcinoma by regulating the LKB1-AMPK-mTOR axis. (PMID:33219302)
• Missense NAA20 variants impairing the NatB protein N-terminal acetyltransferase cause autosomal recessive developmental delay, intellectual disability, and microcephaly. (PMID:34230638)
• NAA20 recruits Rin2 and promotes triple-negative breast cancer progression by regulating Rab5A-mediated activation of EGFR signaling. (PMID:37827343)
• Sequential CRISPR screening reveals partial NatB inhibition as a strategy to mitigate alpha-synuclein levels in human neurons. (PMID:38335281)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	naa20	ENSDARG00000039493
mus_musculus	Naa20	ENSMUSG00000002728
rattus_norvegicus	Naa20	ENSRNOG00000010523
drosophila_melanogaster	Naa20A	FBGN0031043
caenorhabditis_elegans		WBGENE00022394

Paralogs (4): NAA10 (ENSG00000102030), NAA50 (ENSG00000121579), NAA30 (ENSG00000139977), NAA11 (ENSG00000156269)

Protein

Protein identifiers

N-alpha-acetyltransferase 20 — P61599 (reviewed: P61599)

Alternative names: Methionine N-acetyltransferase, N-acetyltransferase 5, N-terminal acetyltransferase B complex catalytic subunit NAA20, N-terminal acetyltransferase B complex catalytic subunit NAT5, NatB catalytic subunit

All UniProt accessions (2): A8MZB2, P61599

UniProt curated annotations — full annotation on UniProt →

Function. Catalytic subunit of the NatB complex which catalyzes acetylation of the N-terminal methionine residues of peptides beginning with Met-Asp, Met-Glu, Met-Asn and Met-Gln. Proteins with cell cycle functions are overrepresented in the pool of NatB substrates. Required for maintaining the structure and function of actomyosin fibers and for proper cellular migration.

Subunit / interactions. Component of the N-terminal acetyltransferase B (NatB) complex which is composed of NAA20 and NAA25.

Subcellular location. Cytoplasm. Nucleus.

Disease relevance. Intellectual developmental disorder, autosomal recessive 73 (MRT73) [MIM:619717] A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT73 patients manifest global developmental delay with hypotonia and mildly delayed walking, impaired intellectual development with poor or absent speech, and mildly dysmorphic features. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the acetyltransferase family. ARD1 subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
P61599-1	1	yes
P61599-2	2

RefSeq proteins (3): NP_057184, NP_852668, NP_852669 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000182	GNAT_dom	Domain
IPR016181	Acyl_CoA_acyltransferase	Homologous_superfamily
IPR051646	NatB_acetyltransferase_subunit	Family

Pfam: PF00583

Enzyme classification (BRENDA):

• EC 2.3.1.254 — N-terminal methionine Nalpha-acetyltransferase NatB (BRENDA: 7 organisms, 25 substrates, 1 inhibitors, 10 Km, 6 kcat entries)

Substrate kinetics (BRENDA)

10 substrates with measured Km, best-characterized 10. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
ACETYL-COA	0.0069	1
MFGPEEGGRWGRPVGRRRRRPVRVYP	3.734	1
MIGPEEGGRWGRPVGRRRRRPVRVYP	0.185	1
MLALISRRWGRPVGRRRRRPVRVYP	0.19	1
MLDPEEGGRWGRPVGRRRRRPVRVYP	0.091	1
MLGPEGGRWGRPVGRRRRRPVRVYP	0.079	1
MLGTEEGGRWGRPVGRRRRRPVRVYP	0.416	1
MLGTGPARWGRPVGRRRRRPVRVYP	0.32	1
MLLPEEGGRWGRPVGRRRRRPVRVYP	0.478	1
MLRPEEGGRWGRPVGRRRRRPVRVYP	0.46	1

Catalyzed reactions (Rhea), 4 shown:

• N-terminal L-methionyl-L-aspartyl-[protein] + acetyl-CoA = N-terminal N(alpha)-acetyl-L-methionyl-L-aspartyl-[protein] + CoA + H(+) (RHEA:50480)
• N-terminal L-methionyl-L-asparaginyl-[protein] + acetyl-CoA = N-terminal N(alpha)-acetyl-L-methionyl-L-asparaginyl-[protein] + CoA + H(+) (RHEA:50484)
• N-terminal L-methionyl-L-glutamyl-[protein] + acetyl-CoA = N-terminal N(alpha)-acetyl-L-methionyl-L-glutamyl-[protein] + CoA + H(+) (RHEA:50488)
• N-terminal L-methionyl-L-glutaminyl-[protein] + acetyl-CoA = N-terminal N(alpha)-acetyl-L-methionyl-L-glutaminyl-[protein] + CoA + H(+) (RHEA:50492)

UniProt features (25 total): strand 10, helix 5, sequence variant 4, turn 2, chain 1, domain 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
7STX	ELECTRON MICROSCOPY	3.14
8G0L	ELECTRON MICROSCOPY	3.39
6VP9	ELECTRON MICROSCOPY	3.46

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P61599-F1	94.11	0.85

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 280 (showing top): GOBP_N_TERMINAL_PROTEIN_AMINO_ACID_ACETYLATION, GOBP_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS, GOBP_PROTEIN_MATURATION, WANG_LMO4_TARGETS_DN, GOBP_PROTEIN_ACETYLATION, ROZANOV_MMP14_TARGETS_UP, DACOSTA_UV_RESPONSE_VIA_ERCC3_COMMON_DN, GOBP_PEPTIDYL_GLUTAMIC_ACID_MODIFICATION, NOUZOVA_TRETINOIN_AND_H4_ACETYLATION, GOBP_PROTEIN_ACYLATION, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, MARTORIATI_MDM4_TARGETS_FETAL_LIVER_UP, GOBP_REGULATION_OF_CYTOSKELETON_ORGANIZATION, GOBP_N_TERMINAL_PROTEIN_AMINO_ACID_MODIFICATION, NUYTTEN_EZH2_TARGETS_DN

GO Biological Process (5): N-terminal protein amino acid acetylation (GO:0006474), N-terminal peptidyl-aspartic acid acetylation (GO:0017190), N-terminal peptidyl-glutamine acetylation (GO:0017192), N-terminal peptidyl-glutamic acid acetylation (GO:0018002), regulation of actin cytoskeleton organization (GO:0032956)

GO Molecular Function (6): protein-N-terminal amino-acid acetyltransferase activity (GO:0004596), protein N-terminal-methionine acetyltransferase activity (GO:0120518), protein binding (GO:0005515), transferase activity (GO:0016740), acyltransferase activity (GO:0016746), acyltransferase activity, transferring groups other than amino-acyl groups (GO:0016747)

GO Cellular Component (4): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), NatB complex (GO:0031416)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
N-terminal protein amino acid acetylation	3
cellular anatomical structure	2
protein acetylation	1
N-terminal protein amino acid modification	1
protein maturation	1
peptidyl-aspartic acid modification	1
peptidyl-glutamine modification	1
peptidyl-glutamic acid modification	1
actin cytoskeleton organization	1
regulation of actin filament-based process	1
regulation of cytoskeleton organization	1
protein N-acetyltransferase activity	1
protein-N-terminal amino-acid acetyltransferase activity	1
binding	1
catalytic activity	1
transferase activity	1
acyltransferase activity	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cytoplasm	1
N-terminal protein acetyltransferase complex	1

Protein interactions and networks

STRING

1386 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NAA20	NAA25	Q14CX7	998
NAA20	NAA15	Q9BXJ9	977
NAA20	NAA30	Q147X3	904
NAA20	NAA35	Q5VZE5	851
NAA20	NAA50	Q9GZZ1	846
NAA20	NAA40	Q86UY6	846
NAA20	NAA60	Q9H7X0	794
NAA20	ESCO1	Q5FWF5	659
NAA20	ESCO2	Q56NI9	648
NAA20	NAA16	Q6N069	646
NAA20	NAA80	Q93015	644
NAA20	CRNKL1	Q9BZJ0	630
NAA20	HYPK	Q9NX55	619
NAA20	CFAP61	Q8NHU2	590
NAA20	KAT14	Q9H8E8	584

IntAct

10 interactions, top by confidence:

A	B	Type	Score
REG1A	REG1B	psi-mi:“MI:0914”(association)	0.560
TNFRSF8	DAPK3	psi-mi:“MI:0914”(association)	0.530
NAA20	NAA25	psi-mi:“MI:0915”(physical association)	0.520
ADIPOR1	NAA20	psi-mi:“MI:0915”(physical association)	0.370
AKAP1	MFN2	psi-mi:“MI:0914”(association)	0.350
SLC26A5	ASMTL	psi-mi:“MI:0914”(association)	0.350
IKBKE	NAA20	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (36): NAA20 (Co-fractionation), NAA20 (Co-fractionation), NAA20 (Co-fractionation), NAA20 (Co-fractionation), NAA20 (Co-fractionation), NAA20 (Co-fractionation), NAA20 (Co-fractionation), NAA20 (Affinity Capture-MS), NAA20 (Affinity Capture-MS), NAA20 (Affinity Capture-MS), NAA20 (Affinity Capture-MS), NAA20 (Negative Genetic), NAA20 (Negative Genetic), NAA20 (Negative Genetic), NAA20 (Co-fractionation)

ESM2 similar proteins: A0A1L8F5J9, A0JN27, F1LTR1, F1NBL0, O15294, P35438, P35439, P56558, P61201, P61202, P61203, P61599, P61600, P63138, P79101, P81436, Q03555, Q05586, Q13888, Q15303, Q27HV0, Q2PFM2, Q2TBV5, Q4L208, Q58ED9, Q5R1P0, Q5SP67, Q5ZJ75, Q61527, Q62956, Q6IQT4, Q6IR75, Q6P1K8, Q6P632, Q7ZXR3, Q8BUV3, Q8C6G8, Q8CGY8, Q8R4D1, Q91854

Diamond homologs: A1ADU8, A1JL38, A4TMK1, C3PIU4, D7GG24, O80438, P61599, P61600, P63420, P63421, P63422, P63423, P63424, P76539, Q0T275, Q0TF35, Q1C5T8, Q1CJZ6, Q1R8T7, Q2NS89, Q2PFM2, Q31Y46, Q32DB9, Q3YZA9, Q57LQ8, Q58604, Q58925, Q58ED9, Q5PI26, Q668I7, Q6D8U7, Q6P632, Q7N6Z8, Q7ZXR3, Q8ZCG0, A0A0S0MX59, A0JZC2, A0LWI8, A0PLC7, A0QAU8

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
NAA20	“form complex”	NatB	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	1
Uncertain significance	17
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
1338748	NM_016100.5(NAA20):c.239C>T (p.Ala80Val)	Pathogenic
1338747	NM_016100.5(NAA20):c.160A>G (p.Met54Val)	Likely pathogenic

SpliceAI

669 predictions. Top by Δscore:

Variant	Effect	Δscore
20:20017450:G:GG	donor_gain	1.0000
20:20026782:A:AG	acceptor_gain	1.0000
20:20026783:G:GG	acceptor_gain	1.0000
20:20032505:A:G	acceptor_gain	1.0000
20:20032506:A:AG	acceptor_gain	1.0000
20:20032507:G:GG	acceptor_gain	1.0000
20:20032507:GA:G	acceptor_gain	1.0000
20:20032507:GAA:G	acceptor_gain	1.0000
20:20032507:GAAA:G	acceptor_gain	1.0000
20:20032650:TATGG:T	donor_loss	1.0000
20:20032651:ATGGT:A	donor_loss	1.0000
20:20032654:G:GG	donor_gain	1.0000
20:20032655:TAA:T	donor_loss	1.0000
20:20017446:ACAT:A	donor_gain	0.9900
20:20017449:TG:T	donor_loss	0.9900
20:20017450:G:C	donor_loss	0.9900
20:20017451:T:A	donor_loss	0.9900
20:20017452:G:GT	donor_loss	0.9900
20:20025656:C:G	acceptor_gain	0.9900
20:20025768:G:GG	donor_gain	0.9900
20:20026783:GTTAT:G	acceptor_gain	0.9900
20:20032504:A:AG	acceptor_gain	0.9900
20:20017445:AACAT:A	donor_gain	0.9800
20:20017447:CAT:C	donor_gain	0.9800
20:20017448:AT:A	donor_gain	0.9800
20:20017453:AGTGA:A	donor_loss	0.9800
20:20025763:TTATA:T	donor_gain	0.9800
20:20033096:TTACA:T	acceptor_loss	0.9800
20:20033097:TACA:T	acceptor_loss	0.9800
20:20033098:ACAG:A	acceptor_loss	0.9800

AlphaMissense

1164 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:20026831:C:G	H73D	1.000
20:20026835:T:A	V74D	1.000
20:20026850:T:A	V79D	1.000
20:20032531:T:C	L110P	1.000
20:20032533:T:C	F111L	1.000
20:20032535:T:A	F111L	1.000
20:20032535:T:G	F111L	1.000
20:20033108:G:C	R153T	1.000
20:20033108:G:T	R153M	1.000
20:20033109:G:C	R153S	1.000
20:20033109:G:T	R153S	1.000
20:20025689:T:C	F31L	0.999
20:20025691:C:A	F31L	0.999
20:20025691:C:G	F31L	0.999
20:20025761:G:C	G55R	0.999
20:20025762:G:A	G55D	0.999
20:20026789:G:C	G59R	0.999
20:20026790:G:A	G59D	0.999
20:20026793:A:T	K60I	0.999
20:20026794:A:C	K60N	0.999
20:20026794:A:T	K60N	0.999
20:20026828:G:T	G72W	0.999
20:20026829:G:A	G72E	0.999
20:20026831:C:A	H73N	0.999
20:20026833:C:A	H73Q	0.999
20:20026833:C:G	H73Q	0.999
20:20026841:C:A	A76D	0.999
20:20026847:C:T	S78F	0.999
20:20026880:C:A	A89D	0.999
20:20026889:T:C	L92P	0.999

dbSNP variants (sampled 300 via entrez): RS1000091433 (20:20015520 A>G,T), RS1000200251 (20:20019856 A>C), RS1000532340 (20:20020360 C>T), RS1000579445 (20:20027549 C>T), RS1000627265 (20:20020132 C>T), RS1000791588 (20:20026524 C>A,T), RS1000996038 (20:20030574 T>A,G), RS1001214524 (20:20024002 G>A,C), RS1001270800 (20:20030739 C>G,T), RS1001470346 (20:20023341 T>C), RS1001871569 (20:20018368 A>G), RS1002307788 (20:20031875 G>A), RS1002432442 (20:20030854 T>A,G), RS1002622966 (20:20030564 G>A), RS1002828608 (20:20024728 G>T)

Disease associations

OMIM: gene MIM:610833 | disease phenotypes: MIM:619717

GenCC curated gene-disease

Disease	Classification	Inheritance
intellectual developmental disorder, autosomal recessive 73	Strong	Autosomal recessive

Mondo (2): intellectual developmental disorder, autosomal recessive 73 (MONDO:0030533), breast ductal adenocarcinoma (MONDO:0005590)

Orphanet (0):

HPO phenotypes

39 total (30 of 39 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000215	Thick upper lip vermilion
HP:0000268	Dolichocephaly
HP:0000286	Epicanthus
HP:0000341	Narrow forehead
HP:0000350	Small forehead
HP:0000358	Posteriorly rotated ears
HP:0000369	Low-set ears
HP:0000494	Downslanted palpebral fissures
HP:0000687	Widely spaced teeth
HP:0000717	Autism
HP:0000737	Irritability
HP:0000938	Osteopenia
HP:0000954	Single transverse palmar crease
HP:0001249	Intellectual disability
HP:0001252	Hypotonia
HP:0001263	Global developmental delay
HP:0001290	Generalized hypotonia
HP:0001347	Hyperreflexia
HP:0001558	Decreased fetal movement
HP:0001629	Ventricular septal defect
HP:0001643	Patent ductus arteriosus
HP:0001763	Pes planus
HP:0002002	Deep philtrum
HP:0002033	Poor suck
HP:0002066	Gait ataxia
HP:0002307	Drooling
HP:0002311	Incoordination
HP:0002465	Poor speech
HP:0002650	Scoliosis

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST002701_29	Verbal declarative memory	2.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004874	memory performance
EFO:0006805	word list delayed recall measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D018270	Carcinoma, Ductal, Breast	C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects expression, decreases expression	2
dicrotophos	decreases expression	1
senkirkine	increases expression	1
beta-lapachone	decreases expression, increases expression	1
arsenite	affects binding, increases reaction	1
zinc chromate	increases expression, increases abundance	1
manganese chloride	decreases expression, increases abundance	1
di-n-butylphosphoric acid	affects expression	1
chromium hexavalent ion	increases abundance, increases expression	1
Temozolomide	increases expression	1
Arsenic	affects methylation	1
Cadmium	increases expression	1
Diuron	decreases expression	1
Ivermectin	decreases expression	1
Manganese	decreases expression, increases abundance	1
Nickel	increases expression	1
Phthalic Acids	decreases methylation	1
Rotenone	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Valproic Acid	affects expression	1
Cyclosporine	increases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_E0IR	Ubigene HeLa NAA20 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03414970	PHASE3	ACTIVE_NOT_RECRUITING	Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer
NCT00461344	PHASE2	TERMINATED	Docetaxel + Doxorubicin as Neoadjuvant Chemotherapy in Patients With Breast Cancer
NCT07499999	PHASE2	NOT_YET_RECRUITING	Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer
NCT00637364	PHASE1/PHASE2	SUSPENDED	High Intensity Focused Ultrasound Tumor Treatment for Pancreatic Cancer Pain
NCT02779855	PHASE1/PHASE2	COMPLETED	Talimogene Laherparepvec in Combination With Neoadjuvant Chemotherapy in Triple Negative Breast Cancer
NCT01753908	EARLY_PHASE1	COMPLETED	Broccoli Sprout Extract in Treating Patients With Breast Cancer
NCT01796041	EARLY_PHASE1	COMPLETED	Intraoperative Imaging of Breast Cancer With Indocyanine Green
NCT01208974	Not specified	ACTIVE_NOT_RECRUITING	Nipple-Areola Complex (NAC) Irradiation After Nipple-Sparing Mastectomy and Reconstruction
NCT01875198	Not specified	TERMINATED	Oncologic Impact of Splenectomy-omitting Radical Pancreatectomy in Well-selected Left-sided Pancreatic Cancer
NCT03543397	Not specified	UNKNOWN	MRI in Ductal Carcinoma in Situ (DCIS)
NCT03834532	Not specified	COMPLETED	Living Well After Breast Surgery