NOTCH2NLA

Summary

NOTCH2NLA (notch 2 N-terminal like A, HGNC:31862) is a protein-coding gene on chromosome 1q21.1, encoding Notch homolog 2 N-terminal-like protein A (Q7Z3S9). Human-specific protein that promotes neural progenitor proliferation and evolutionary expansion of the brain neocortex by regulating the Notch signaling pathway.

Enables Notch binding activity. Involved in cerebral cortex development and positive regulation of Notch signaling pathway. Predicted to be located in cytoplasm and extracellular region.

Source: NCBI Gene 388677 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neuronal intranuclear inclusion disease (Limited, GenCC)
• Clinical variants (ClinVar): 9 total
• MANE Select transcript: NM_203458

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:31862
Approved symbol	NOTCH2NLA
Name	notch 2 N-terminal like A
Location	1q21.1
Locus type	gene with protein product
Status	Approved
Aliases	N2N
Ensembl gene	ENSG00000264343
Ensembl biotype	protein_coding
OMIM	618023
Entrez	388677

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 20 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000362074, ENST00000479995, ENST00000579793, ENST00000685177, ENST00000686973, ENST00000687833, ENST00000688759, ENST00000689750, ENST00000692119, ENST00000884715, ENST00000884716, ENST00000884717, ENST00000884718, ENST00000884719, ENST00000884720, ENST00000884721, ENST00000884722, ENST00000884723, ENST00000884724, ENST00000884725, ENST00000948637

RefSeq mRNA: 4 — MANE Select: NM_203458 NM_001364006, NM_001395231, NM_001395232, NM_203458

CCDS: CCDS72880, CCDS91035

Canonical transcript exons

ENST00000362074 — 5 exons

Exon	Start	End
ENSE00003568476	146189300	146189381
ENSE00003600025	146164751	146165010
ENSE00003638226	146156480	146156815
ENSE00003978276	146148865	146156229
ENSE00004282660	146228709	146229021

Expression profiles

Bgee: expression breadth ubiquitous, 135 present calls, max score 96.47.

FANTOM5 (CAGE): breadth broad, TPM avg 0.8998 / max 41.9765, expressed in 469 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
201701	0.8998	469

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
corpus callosum	UBERON:0002336	96.47	gold quality
calcaneal tendon	UBERON:0003701	96.28	gold quality
sural nerve	UBERON:0015488	92.05	gold quality
adrenal tissue	UBERON:0018303	90.44	gold quality
monocyte	CL:0000576	90.25	gold quality
bone marrow cell	CL:0002092	90.01	gold quality
colonic epithelium	UBERON:0000397	89.66	gold quality
leukocyte	CL:0000738	89.55	gold quality
stromal cell of endometrium	CL:0002255	89.24	gold quality
zone of skin	UBERON:0000014	88.59	gold quality
skin of abdomen	UBERON:0001416	88.59	gold quality
skin of leg	UBERON:0001511	88.37	gold quality
ventricular zone	UBERON:0003053	87.86	gold quality
tonsil	UBERON:0002372	87.45	gold quality
blood	UBERON:0000178	87.44	gold quality
ascending aorta	UBERON:0001496	86.60	gold quality
thoracic aorta	UBERON:0001515	86.58	gold quality
uterine cervix	UBERON:0000002	86.51	gold quality
popliteal artery	UBERON:0002250	86.49	gold quality
tibial artery	UBERON:0007610	86.47	gold quality
left testis	UBERON:0004533	86.33	gold quality
descending thoracic aorta	UBERON:0002345	86.25	gold quality
bone marrow	UBERON:0002371	86.25	gold quality
lower esophagus mucosa	UBERON:0035834	86.24	gold quality
tibial nerve	UBERON:0001323	86.15	gold quality
vagina	UBERON:0000996	85.88	gold quality
testis	UBERON:0000473	85.87	gold quality
right testis	UBERON:0004534	85.57	gold quality
esophagus mucosa	UBERON:0002469	85.48	gold quality
ectocervix	UBERON:0012249	85.13	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.69
E-ENAD-17	no	235.99
E-CURD-11	no	171.59
E-MTAB-6142	no	92.80

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ESR1, ESR2, TP63

miRNA regulators (miRDB)

161 targeting NOTCH2NLA, 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-8485	100.00	77.57	4731
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-218-5P	99.93	72.22	2103
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-329-3P	99.91	66.56	1234
HSA-MIR-362-3P	99.91	66.38	1267
HSA-MIR-10523-5P	99.91	69.22	2038
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-6499-3P	99.90	66.38	1212
HSA-MIR-106A-5P	99.90	73.94	2683

Literature-anchored findings (GeneRIF, showing 2)

• the emergence of human-specific NOTCH2NL genes may have contributed to the rapid evolution of the larger human neocortex, accompanied by loss of genomic stability at the 1q21.1 locus and resulting recurrent neurodevelopmental disorders (PMID:29856954)
• Evolution of Human Brain Size-Associated NOTCH2NL Genes Proceeds toward Reduced Protein Levels. (PMID:32330268)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	notchl	ENSDARG00000088308
drosophila_melanogaster	N	FBGN0004647
caenorhabditis_elegans		WBGENE00003001

Paralogs (7): NOTCH3 (ENSG00000074181), NOTCH2 (ENSG00000134250), NOTCH1 (ENSG00000148400), SNED1 (ENSG00000162804), NOTCH2NLB (ENSG00000286019), NOTCH2NLR (ENSG00000286106), NOTCH2NLC (ENSG00000286219)

Protein

Protein identifiers

Notch homolog 2 N-terminal-like protein A — Q7Z3S9 (reviewed: Q7Z3S9)

Alternative names: Notch homolog 2 N-terminal-like protein

All UniProt accessions (3): A0A8I5KR58, A0A8I5KUH1, Q7Z3S9

UniProt curated annotations — full annotation on UniProt →

Function. Human-specific protein that promotes neural progenitor proliferation and evolutionary expansion of the brain neocortex by regulating the Notch signaling pathway. Able to promote neural progenitor self-renewal, possibly by down-regulating neuronal differentiation genes, thereby delaying the differentiation of neuronal progenitors and leading to an overall final increase in neuronal production. Acts by enhancing the Notch signaling pathway via two different mechanisms that probably work in parallel to reach the same effect. Enhances Notch signaling pathway in a non-cell-autonomous manner via direct interaction with NOTCH2. Also promotes Notch signaling pathway in a cell-autonomous manner through inhibition of cis DLL1-NOTCH2 interactions, which promotes neuronal differentiation.

Subunit / interactions. Interacts with ELANE. Interacts with NOTCH2. Interacts with DLL1; the interaction is direct.

Subcellular location. Secreted. Cytoplasm.

Tissue specificity. Widely expressed with higher levels in leukocytes and lymph nodes. Expressed in radial glia neural stem cells during cortical development.

Post-translational modifications. Cleaved by ELANE.

Disease relevance. Defects in NOTCH2NLA may be a cause of chromosome 1q21.1 deletion/duplication syndrome. Deletions of NOTCH2NL (NOTCH2NLA, NOTCH2NLB and/or NOTCH2NLC) are present in patients affected by microcephaly, whereas macrocephaly is observed in patients with NOTCH2NL duplications.

Similarity. Belongs to the NOTCH family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q7Z3S9-1	1	yes
Q7Z3S9-2	2
Q7Z3S9-3	3

RefSeq proteins (4): NP_001350935, NP_001382160, NP_001382161, NP_982283* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000152	EGF-type_Asp/Asn_hydroxyl_site	PTM
IPR000742	EGF	Domain
IPR001881	EGF-like_Ca-bd_dom	Domain
IPR018097	EGF_Ca-bd_CS	Conserved_site
IPR049883	NOTCH1_EGF-like	Domain
IPR050906	Notch_signaling	Family

Pfam: PF00008, PF07645

UniProt features (30 total): disulfide bond 15, domain 6, sequence variant 4, splice variant 2, chain 1, sequence conflict 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7Z3S9-F1	87.03	0.72

Functional residue map

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

Disulfide bonds (15): 34–51, 53–62, 70–82, 76–92, 94–103, 109–120, 114–129, 131–140, 147–159, 153–168, 170–179, 186–197, 191–207, 14–23, 29–40

Glycosylation sites (1): 7

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-2979096	NOTCH2 Activation and Transmission of Signal to the Nucleus
R-HSA-9911233	Expression of NOTCH2NL genes

MSigDB gene sets: 129 (showing top): REACTOME_SIGNALING_BY_NOTCH, YAATNRNNNYNATT_UNKNOWN, GOBP_POSITIVE_REGULATION_OF_NOTCH_SIGNALING_PATHWAY, LHX3_01, GGGTGGRR_PAX4_03, GOBP_FOREBRAIN_DEVELOPMENT, SREBP1_02, ONKEN_UVEAL_MELANOMA_UP, MCLACHLAN_DENTAL_CARIES_DN, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A4, GOBP_CEREBRAL_CORTEX_DEVELOPMENT, WTGAAAT_UNKNOWN, GOBP_PALLIUM_DEVELOPMENT, GOBP_REGULATION_OF_NOTCH_SIGNALING_PATHWAY, BOYAULT_LIVER_CANCER_SUBCLASS_G1_UP

GO Biological Process (7): Notch signaling pathway (GO:0007219), cerebral cortex development (GO:0021987), cell differentiation (GO:0030154), positive regulation of Notch signaling pathway (GO:0045747), positive regulation of signal transduction (GO:0009967), animal organ development (GO:0048513), system development (GO:0048731)

GO Molecular Function (3): Notch binding (GO:0005112), calcium ion binding (GO:0005509), protein binding (GO:0005515)

GO Cellular Component (2): extracellular region (GO:0005576), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Signaling by NOTCH2	1
Pre-NOTCH Transcription and Translation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
anatomical structure development	3
cellular anatomical structure	2
cell surface receptor signaling pathway	1
pallium development	1
cellular developmental process	1
Notch signaling pathway	1
regulation of Notch signaling pathway	1
positive regulation of signal transduction	1
signal transduction	1
regulation of signal transduction	1
positive regulation of cell communication	1
positive regulation of signaling	1
positive regulation of response to stimulus	1
multicellular organism development	1
signaling receptor binding	1
metal ion binding	1
binding	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1244 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NOTCH2NLA	ARHGAP11B	Q3KRB8	672
NOTCH2NLA	NBPF19	A0A087WUL8	667
NOTCH2NLA	LRP12	Q9Y561	609
NOTCH2NLA	SRGAP2C	P0DJJ0	541
NOTCH2NLA	TMEM14B	Q9NUH8	506
NOTCH2NLA	GIPC1	O14908	450
NOTCH2NLA	SRGAP2	O75044	448
NOTCH2NLA	SRGAP3	O43295	434
NOTCH2NLA	FMR1	Q06787	413
NOTCH2NLA	ELANE	P08246	412
NOTCH2NLA	NBPF10	Q6P3W6	407
NOTCH2NLA	FAM72B	Q86X60	407
NOTCH2NLA	NOTCH2NLB	P0DPK3	406
NOTCH2NLA	NBPF11	Q86T75	367
NOTCH2NLA	GPHN	Q9NQX3	359

IntAct

799 interactions, top by confidence:

A	B	Type	Score
ITGB2	NOTCH2NLA	psi-mi:“MI:0915”(physical association)	0.780
CHRNG	NOTCH2NLA	psi-mi:“MI:0915”(physical association)	0.740
LCE1B	NOTCH2NLA	psi-mi:“MI:0915”(physical association)	0.740
PRPF31	NOTCH2NLA	psi-mi:“MI:0915”(physical association)	0.720
SLC22A23	NOTCH2NLA	psi-mi:“MI:0915”(physical association)	0.670
NOTCH2NLA	TSPAN4	psi-mi:“MI:0915”(physical association)	0.670
SPRY1	NOTCH2NLA	psi-mi:“MI:0915”(physical association)	0.670
NOTCH2NLA	HSBP1	psi-mi:“MI:0915”(physical association)	0.670
NOTCH2NLA	PDE9A	psi-mi:“MI:0915”(physical association)	0.670
NOTCH2NLA	SNAI1	psi-mi:“MI:0915”(physical association)	0.670
HBZ	NOTCH2NLA	psi-mi:“MI:0915”(physical association)	0.670
ALPI	NOTCH2NLA	psi-mi:“MI:0915”(physical association)	0.670
PVR	NOTCH2NLA	psi-mi:“MI:0915”(physical association)	0.670
NPPB	NOTCH2NLA	psi-mi:“MI:0915”(physical association)	0.670
NOTCH2NLA	GATA2	psi-mi:“MI:0915”(physical association)	0.670
NOTCH2NLA	IL2RG	psi-mi:“MI:0915”(physical association)	0.670
NOTCH2NLA	SMCP	psi-mi:“MI:0915”(physical association)	0.670
NOTCH2NLA	BLCAP	psi-mi:“MI:0915”(physical association)	0.670
NOTCH2NLA	ADCK5	psi-mi:“MI:0915”(physical association)	0.670
LCE3E	NOTCH2NLA	psi-mi:“MI:0915”(physical association)	0.670
NOTCH2NLA	THEMIS2	psi-mi:“MI:0915”(physical association)	0.670
NOTCH2NLA	KRTAP5-6	psi-mi:“MI:0915”(physical association)	0.670
NR1D2	NOTCH2NLA	psi-mi:“MI:0915”(physical association)	0.670
NOTCH2NLA	CA6	psi-mi:“MI:0915”(physical association)	0.670
CATSPER1	NOTCH2NLA	psi-mi:“MI:0915”(physical association)	0.670
NOTCH2NLA	LNX1	psi-mi:“MI:0915”(physical association)	0.670
NOTCH2NLA	RAB3IL1	psi-mi:“MI:0915”(physical association)	0.670
NOTCH2NLA	CCER1	psi-mi:“MI:0915”(physical association)	0.670
NOTCH2NLA	RCHY1	psi-mi:“MI:0915”(physical association)	0.670
THAP7	NOTCH2NLA	psi-mi:“MI:0915”(physical association)	0.670

BioGRID (504): NOTCH2NL (Two-hybrid), NOTCH2NL (Two-hybrid), NOTCH2NL (Two-hybrid), NOTCH2NL (Two-hybrid), NOTCH2NL (Two-hybrid), NOTCH2NL (Two-hybrid), NOTCH2NL (Two-hybrid), NOTCH2NL (Two-hybrid), NOTCH2NL (Two-hybrid), NOTCH2NL (Two-hybrid), NOTCH2NL (Two-hybrid), NOTCH2NL (Two-hybrid), NOTCH2NL (Two-hybrid), NOTCH2NL (Two-hybrid), NOTCH2NL (Two-hybrid)

ESM2 similar proteins: A0A096LNW5, B8JI71, D3ZHH1, G3I6Z6, O00548, O35516, O57409, P0DPK3, P0DPK4, P35442, P46531, P78504, P97677, Q01705, Q04721, Q05793, Q07008, Q08E66, Q2QI47, Q5G872, Q5ZQU0, Q61483, Q63722, Q66PY1, Q6DI48, Q6NZL8, Q70E20, Q7TQN3, Q7Z3S9, Q8IWY4, Q8IX30, Q8JZM4, Q8K3K1, Q8NFT8, Q8TER0, Q8TEU8, Q8UWJ4, Q8VHS2, Q90Y54, Q90Y57

Diamond homologs: A0A096LNW5, A2RUV0, B4DH59, B8JI71, G3I6Z6, O35516, O75882, P07207, P0DPK3, P0DPK4, P10040, P21783, P46530, P46531, P98160, Q01705, Q04721, Q04756, Q07008, Q20911, Q7Z3S9, Q99466, Q99J86, Q9QW30, Q9UM47, Q9WU60, O35474, O75095, O89019, P13508, P20749, P31695, P82279, Q499M5, Q502K3, Q5RBP1, Q61982, Q6UXI9, Q6UY11, Q810B6

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 190 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Keratinization	24	9.9×	6e-15

GO biological processes:

GO term	Partners	Fold	FDR
hair cycle	5	29.8×	5e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

1503 predictions. Top by Δscore:

Variant	Effect	Δscore
1:146156476:T:G	donor_loss	1.0000
1:146156477:G:T	donor_loss	1.0000
1:146156478:GGT:G	donor_loss	1.0000
1:146156480:CAGG:C	donor_loss	1.0000
1:146156481:CCAGG:C	donor_loss	1.0000
1:146156814:G:GA	acceptor_loss	1.0000
1:146156815:AGG:A	acceptor_loss	1.0000
1:146156816:TAG:T	acceptor_loss	1.0000
1:146156817:TTAG:T	acceptor_loss	1.0000
1:146165009:G:GA	acceptor_loss	1.0000
1:146165009:G:GG	acceptor_gain	1.0000
1:146165009:GAT:G	acceptor_gain	1.0000
1:146165010:A:AG	acceptor_gain	1.0000
1:146165010:AGATG:A	acceptor_loss	1.0000
1:146165011:CAGA:C	acceptor_loss	1.0000
1:146165011:CAGAT:C	acceptor_loss	1.0000
1:146165013:TACA:T	acceptor_loss	1.0000
1:146189296:T:A	donor_loss	1.0000
1:146189297:G:GG	donor_gain	1.0000
1:146189297:G:T	donor_loss	1.0000
1:146189297:GTAAG:G	donor_loss	1.0000
1:146189298:AG:A	donor_loss	1.0000
1:146189298:AGT:A	donor_loss	1.0000
1:146189299:AA:A	donor_gain	1.0000
1:146189299:AAGT:A	donor_loss	1.0000
1:146189299:AAGTA:A	donor_loss	1.0000
1:146189300:CAA:C	donor_gain	1.0000
1:146189300:CAAG:C	donor_loss	1.0000
1:146189300:CAAGT:C	donor_loss	1.0000
1:146189301:GCAA:G	donor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS10399807 (1:146169243 C>T), RS10429826 (1:146207288 T>C,G), RS10429827 (1:146207725 C>A,T), RS10522170 (1:146148822 CTTTTTTT>C,CT,CTT,CTTT,CTTTT,CTTTTT,CTTTTTT,CTTTTTTTT,CTTTTTTTTT,CTTTTTTTTTT,CTTTTTTTTTTTTT,CTTTTTTTTTTTTTT), RS10531576 (1:146148508 CTTTTTTTTTTTTTT>C,CTT,CTTT,CTTTTT,CTTTTTT,CTTTTTTT,CTTTTTTTT,CTTTTTTTTT,CTTTTTTTTTTT,CTTTTTTTTTTTT,CTTTTTTTTTTTTT,CTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT), RS1053705 (1:146149400 A>C), RS1053708 (1:146149281 A>G), RS1053710 (1:146156188 C>G,T), RS1053715 (1:146148906 T>A,C), RS1053717 (1:146156166 T>C,G), RS1053720 (1:146156150 T>A,C,G), RS10560332 (1:146174387 GCT>G), RS10612321 (1:146219812 T>C), RS1062341 (1:146155602 A>C,G), RS10625864 (1:146159340 GAAGA>G,GAAGAAAGA,GAAGAAAGAAAGA)

Disease associations

OMIM: gene MIM:618023 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
neuronal intranuclear inclusion disease	Limited	Autosomal dominant

Mondo (1): neuronal intranuclear inclusion disease (MONDO:0011327)

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C537395	Neuronal intranuclear inclusion disease (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
trichostatin A	affects cotreatment, increases expression	3
bisphenol A	affects binding, increases reaction, affects cotreatment, decreases expression	2
Valproic Acid	decreases expression, decreases methylation	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	2
bisphenol F	decreases expression, affects cotreatment	1
di-n-butylphosphoric acid	affects expression	1
entinostat	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
bisphenol S	decreases expression, affects cotreatment	1
Temozolomide	affects response to substance	1
Sunitinib	decreases expression	1
Air Pollutants	decreases expression	1
Benzo(a)pyrene	decreases expression	1
Carmustine	affects response to substance	1
Dexamethasone	affects cotreatment, decreases expression	1
Doxorubicin	decreases expression	1
Formaldehyde	increases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Methyl Methanesulfonate	increases expression	1
Pesticides	decreases expression	1
Polychlorinated Biphenyls	affects expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, decreases expression	1
Aflatoxin B1	decreases methylation	1
Lactic Acid	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04055857	Not specified	UNKNOWN	Structural and Functional Changes in Neuronal Intranuclear Inclusion Disease(NIID)