NCAM2

Summary

NCAM2 (neural cell adhesion molecule 2, HGNC:7657) is a protein-coding gene on chromosome 21q21.1, encoding Neural cell adhesion molecule 2 (O15394). May play important roles in selective fasciculation and zone-to-zone projection of the primary olfactory axons.

The protein encoded by this gene belongs to the immunoglobulin superfamily. It is a type I membrane protein and may function in selective fasciculation and zone-to-zone projection of the primary olfactory axons.

Source: NCBI Gene 4685 — RefSeq curated summary.

At a glance

• GWAS associations: 13
• Clinical variants (ClinVar): 152 total
• MANE Select transcript: NM_004540

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7657
Approved symbol	NCAM2
Name	neural cell adhesion molecule 2
Location	21q21.1
Locus type	gene with protein product
Status	Approved
Aliases	NCAM21, MGC51008
Ensembl gene	ENSG00000154654
Ensembl biotype	protein_coding
OMIM	602040
Entrez	4685

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 3 protein_coding_CDS_not_defined, 2 protein_coding

ENST00000284894, ENST00000400546, ENST00000461281, ENST00000484983, ENST00000486367

RefSeq mRNA: 7 — MANE Select: NM_004540 NM_001352591, NM_001352592, NM_001352593, NM_001352594, NM_001352595, NM_001352596, NM_004540

CCDS: CCDS42910

Canonical transcript exons

ENST00000400546 — 18 exons

Exon	Start	End
ENSE00001017031	21432108	21432281
ENSE00001017033	21338389	21338534
ENSE00001017035	21477291	21477471
ENSE00001017041	21373863	21374013
ENSE00001017044	21534537	21534656
ENSE00001017045	21410274	21410461
ENSE00001017048	21508851	21509055
ENSE00001017052	21418473	21418569
ENSE00001543443	21537846	21543329
ENSE00001543472	20998409	20998618
ENSE00003484151	21286269	21286412
ENSE00003496361	21280578	21280652
ENSE00003566319	21466606	21466725
ENSE00003570848	21324383	21324500
ENSE00003613335	21468662	21468783
ENSE00003633427	21335505	21335665
ENSE00003667449	21292104	21292241
ENSE00003691834	21284194	21284400

Expression profiles

Bgee: expression breadth ubiquitous, 173 present calls, max score 89.94.

FANTOM5 (CAGE): breadth broad, TPM avg 7.9561 / max 574.1446, expressed in 829 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
188606	4.8204	576
188604	1.8728	437
188605	0.6149	152
188609	0.5815	75
188619	0.0517	20
188620	0.0148	7

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ventricular zone	UBERON:0003053	89.94	gold quality
sural nerve	UBERON:0015488	88.72	gold quality
prefrontal cortex	UBERON:0000451	88.37	gold quality
cortical plate	UBERON:0005343	88.05	gold quality
stromal cell of endometrium	CL:0002255	86.48	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.66	gold quality
Brodmann (1909) area 9	UBERON:0013540	84.45	gold quality
cingulate cortex	UBERON:0003027	83.68	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.66	gold quality
ganglionic eminence	UBERON:0004023	83.55	gold quality
anterior cingulate cortex	UBERON:0009835	83.43	gold quality
right frontal lobe	UBERON:0002810	82.82	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	82.29	gold quality
amygdala	UBERON:0001876	82.28	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	82.05	gold quality
adrenal tissue	UBERON:0018303	81.73	gold quality
caudate nucleus	UBERON:0001873	80.02	gold quality
hypothalamus	UBERON:0001898	79.83	gold quality
neocortex	UBERON:0001950	79.74	gold quality
right adrenal gland	UBERON:0001233	79.63	gold quality
frontal cortex	UBERON:0001870	78.99	gold quality
left adrenal gland	UBERON:0001234	78.78	gold quality
nucleus accumbens	UBERON:0001882	78.75	gold quality
left adrenal gland cortex	UBERON:0035825	78.50	gold quality
tibial nerve	UBERON:0001323	78.34	gold quality
right adrenal gland cortex	UBERON:0035827	78.32	gold quality
spinal cord	UBERON:0002240	78.07	gold quality
putamen	UBERON:0001874	77.94	gold quality
corpus callosum	UBERON:0002336	77.66	gold quality
calcaneal tendon	UBERON:0003701	77.49	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-HCAD-35	yes	94.94
E-ANND-3	yes	5.68

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): STAT5A

miRNA regulators (miRDB)

136 targeting NCAM2, 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-3924	100.00	72.09	2394
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-9983-3P	99.94	71.48	3631

Literature-anchored findings (GeneRIF, showing 8)

• In the crystal structure, two Ig domains interact by domain swapping, as the two N-terminal beta-strands are interchanged. (PMID:18706912)
• High NCAM2 is associated with increased 5-Fluorouracil sensitivity in prostate and breast cancer. (PMID:21214674)
• A complete structural model of the entire ectodomain of human NCAM2 has been assembled from crystal structures of six recombinant proteins corresponding to different regions of the ectodomain. (PMID:21300289)
• Abeta-dependent disruption of NCAM2 functions in Alzheimer’s disease hippocampus contributes to synapse loss. (PMID:26611261)
• Our reported case raises the questions whether the NCAM2-deletion is the true cause of the autism spectrum disorder or only a risk factor and whether there might be any connection in NCAM2 with skull-size (PMID:27596683)
• These results reveal that the NCAM2 FnIII domains form a rigid structure that binds and activates FGFR in a manner related to, but different from NCAM1. (PMID:29895898)
• NCAM2 Regulates Dendritic and Axonal Differentiation through the Cytoskeletal Proteins MAP2 and 14-3-3. (PMID:32043120)
• Spatiotemporal processing of neural cell adhesion molecules 1 and 2 by BACE1 in vivo. (PMID:33548223)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	ncam2	ENSDARG00000017466
		ENSDARG00000098523
mus_musculus	Ncam2	ENSMUSG00000022762
rattus_norvegicus	Ncam2	ENSRNOG00000002126

Paralogs (36): CNTN1 (ENSG00000018236), CDON (ENSG00000064309), NEO1 (ENSG00000067141), SDK2 (ENSG00000069188), IGSF9B (ENSG00000080854), IGSF9 (ENSG00000085552), NRCAM (ENSG00000091129), MXRA5 (ENSG00000101825), IGDCC4 (ENSG00000103742), CNTN3 (ENSG00000113805), IGSF21 (ENSG00000117154), CNTN6 (ENSG00000134115), CHL1 (ENSG00000134121), PTPRQ (ENSG00000139304), CNTN4 (ENSG00000144619), BOC (ENSG00000144857), SDK1 (ENSG00000146555), HMCN2 (ENSG00000148357), NCAM1 (ENSG00000149294), CNTN5 (ENSG00000149972), IGSF10 (ENSG00000152580), ROBO4 (ENSG00000154133), ROBO3 (ENSG00000154134), VCAM1 (ENSG00000162692), NFASC (ENSG00000163531), PRTG (ENSG00000166450), ROBO1 (ENSG00000169855), DSCAM (ENSG00000171587), IGDCC3 (ENSG00000174498), VSIG10 (ENSG00000176834), DSCAML1 (ENSG00000177103), CNTN2 (ENSG00000184144), ROBO2 (ENSG00000185008), VSIG10L (ENSG00000186806), DCC (ENSG00000187323), L1CAM (ENSG00000198910)

Protein

Protein identifiers

Neural cell adhesion molecule 2 — O15394 (reviewed: O15394)

All UniProt accessions (2): O15394, H9KV31

UniProt curated annotations — full annotation on UniProt →

Function. May play important roles in selective fasciculation and zone-to-zone projection of the primary olfactory axons.

Subcellular location. Cell membrane.

Tissue specificity. Expressed most strongly in adult and fetal brain.

Isoforms (2)

UniProt ID	Names	Canonical?
O15394-1	1	yes
O15394-2	2

RefSeq proteins (7): NP_001339520, NP_001339521, NP_001339522, NP_001339523, NP_001339524, NP_001339525, NP_004531* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003598	Ig_sub2	Domain
IPR003599	Ig_sub	Domain
IPR003961	FN3_dom	Domain
IPR007110	Ig-like_dom	Domain
IPR009138	Neural_cell_adh	Family
IPR013098	Ig_I-set	Domain
IPR013106	Ig_V-set	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036116	FN3_sf	Homologous_superfamily
IPR036179	Ig-like_dom_sf	Homologous_superfamily
IPR051170	Neural/epithelial_adhesion	Family

Pfam: PF00041, PF07679, PF13927

UniProt features (115 total): strand 64, glycosylation site 8, domain 7, turn 5, disulfide bond 5, sequence conflict 5, helix 4, compositionally biased region 3, modified residue 3, splice variant 3, topological domain 2, sequence variant 2, signal peptide 1, chain 1, region of interest 1, transmembrane region 1

Structure

Experimental structures (PDB)

9 structures.

PDB	Method	Resolution (Å)
2XY2	X-RAY DIFFRACTION	1.82
2XY1	X-RAY DIFFRACTION	1.98
2V5T	X-RAY DIFFRACTION	2
2JLL	X-RAY DIFFRACTION	2.3
2XYC	X-RAY DIFFRACTION	2.51
2VAJ	X-RAY DIFFRACTION	2.7
2WIM	X-RAY DIFFRACTION	3
2DOC	SOLUTION NMR
2KBG	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O15394-F1	81.71	0.63

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 (3): 765, 780, 786

Disulfide bonds (5): 42–93, 136–186, 232–281, 322–380, 422–475

Glycosylation sites (8): 177, 219, 309, 406, 419, 445, 474, 562

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 142 (showing top): MULLIGHAN_NPM1_SIGNATURE_3_UP, GOBP_NEURON_RECOGNITION, GOZGIT_ESR1_TARGETS_DN, GOBP_NEUROGENESIS, GGGTGGRR_PAX4_03, EVI1_05, GOBP_CELL_CELL_ADHESION, LI_WILMS_TUMOR_VS_FETAL_KIDNEY_2_UP, BRN2_01, KEGG_PRION_DISEASES, IRF1_Q6, MODULE_99, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5, EVI1_01, GOBP_NEURON_CELL_CELL_ADHESION

GO Biological Process (3): neuron cell-cell adhesion (GO:0007158), axonal fasciculation (GO:0007413), cell adhesion (GO:0007155)

GO Molecular Function (2): identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (6): plasma membrane (GO:0005886), membrane (GO:0016020), nuclear body (GO:0016604), axon (GO:0030424), neuron projection (GO:0043005), synaptic membrane (GO:0097060)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell-cell adhesion	1
neuron recognition	1
axon development	1
neuron projection fasciculation	1
cellular process	1
protein binding	1
binding	1
membrane	1
cell periphery	1
cellular anatomical structure	1
nucleoplasm	1
intracellular membraneless organelle	1
neuron projection	1
plasma membrane bounded cell projection	1
synapse	1
plasma membrane region	1

Protein interactions and networks

STRING

1232 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NCAM2	BTG3	Q14201	451
NCAM2	FGL1	Q08830	440
NCAM2	HDAC9	Q9UKV0	431
NCAM2	UPP2	O95045	423
NCAM2	CHODL	Q9H9P2	422
NCAM2	A0A2R8YEI5	A0A2R8YEI5	419
NCAM2	BDNF	P23560	408
NCAM2	CHN2	P52757	405
NCAM2	ST8SIA4	Q92187	396
NCAM2	PTPRS	Q13332	395
NCAM2	GC	P02774	393
NCAM2	AZGP1	P25311	384
NCAM2	ST8SIA2	Q92186	380
NCAM2	MTUS1	Q9ULD2	366
NCAM2	PODXL	O00592	353

IntAct

26 interactions, top by confidence:

A	B	Type	Score
NCAM2	NCAM2	psi-mi:“MI:0407”(direct interaction)	0.620
NCAM2	HNRNPC	psi-mi:“MI:0915”(physical association)	0.400
NCAM2	RALY	psi-mi:“MI:0915”(physical association)	0.400
CD72	NCAM2	psi-mi:“MI:0915”(physical association)	0.400
APBB1	SSPOP	psi-mi:“MI:0914”(association)	0.350
ARHGAP39	HMGN4	psi-mi:“MI:0914”(association)	0.350
MAPT	SHTN1	psi-mi:“MI:0914”(association)	0.350
SYNGAP1	IGLON5	psi-mi:“MI:0914”(association)	0.350
VCP	SHTN1	psi-mi:“MI:0914”(association)	0.350
VCP	FAM171A2	psi-mi:“MI:0914”(association)	0.350
NCAM2	SCHIP1	psi-mi:“MI:0915”(physical association)	0.000
MYB	NCAM2	psi-mi:“MI:0915”(physical association)	0.000
NCAM2	YWHAH	psi-mi:“MI:0915”(physical association)	0.000
NCAM2	CHD4	psi-mi:“MI:0915”(physical association)	0.000
RSPH1	NCAM2	psi-mi:“MI:0915”(physical association)	0.000
NCAM2	YWHAZ	psi-mi:“MI:0915”(physical association)	0.000
NCAM2	CTNND2	psi-mi:“MI:0915”(physical association)	0.000
NCAM2	YWHAB	psi-mi:“MI:0915”(physical association)	0.000
NCAM2	YWHAG	psi-mi:“MI:0915”(physical association)	0.000
NCAM2	YWHAE	psi-mi:“MI:0915”(physical association)	0.000
NCAM2	SCG3	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (20): QDPR (Co-fractionation), NCAM2 (Affinity Capture-RNA), NCAM2 (Affinity Capture-MS), RALY (Proximity Label-MS), HNRNPC (Proximity Label-MS), NCAM2 (Affinity Capture-MS), NCAM2 (Affinity Capture-MS), NCAM2 (Affinity Capture-MS), YWHAZ (Two-hybrid), CTNND2 (Two-hybrid), SCG3 (Two-hybrid), CHD4 (Two-hybrid), YWHAH (Two-hybrid), YWHAG (Two-hybrid), YWHAE (Two-hybrid)

ESM2 similar proteins: A8X3A7, B1Q236, B3MKS0, B8V7Q1, B8VIW9, G5EBF1, G5EF96, H2A0L8, H2KZ60, O02466, O08775, O14522, O15394, O18016, O35136, O44730, P05532, P11834, P16621, P22648, P25033, P28192, P28827, P28828, P31398, P32736, P34446, P35822, P35918, P35992, P97685, Q02763, Q02858, Q06561, Q06807, Q09165, Q14982, Q15262, Q18245, Q1HLC0

Diamond homologs: A1KZ92, A2A8L5, A2AJ76, A2VEC9, A4IGL7, A7MBJ4, B3EWY9, B3EWZ3, B3EWZ8, C0HL12, C5IAW9, D3YXG0, D3ZTD8, F1LW30, F1NWE3, G5EBF1, G5ECS8, O08721, O08722, O08747, O14514, O15146, O15394, O55005, O60241, O60242, O95185, O95428, P07996, P10586, P11680, P11834, P13590, P22648, P27918, P32736, P35440, P35441, P35442, P35446

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 24 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
Activation of BAD and translocation to mitochondria	5	237.9×	9e-10
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	5	209.9×	9e-10
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	5	209.9×	9e-10
Activation of BH3-only proteins	5	155.2×	4e-09
RHO GTPases activate PKNs	5	99.1×	2e-08
Intrinsic Pathway for Apoptosis	5	91.5×	3e-08
Apoptosis	6	63.0×	1e-08
Transcriptional and post-translational regulation of MITF-M expression and activity	5	55.8×	4e-07

GO biological processes:

GO term	Partners	Fold	FDR
intracellular protein localization	5	23.8×	1e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	115
Likely benign	12
Benign	9

Top pathogenic / likely-pathogenic (0)

SpliceAI

6731 predictions. Top by Δscore:

Variant	Effect	Δscore
21:20998419:G:GT	donor_gain	1.0000
21:20998615:CAAG:C	donor_loss	1.0000
21:20998616:AAGGT:A	donor_loss	1.0000
21:20998617:AGG:A	donor_loss	1.0000
21:20998618:GGTAG:G	donor_loss	1.0000
21:20998619:G:C	donor_loss	1.0000
21:20998620:T:A	donor_loss	1.0000
21:21044389:GA:G	donor_gain	1.0000
21:21047529:A:T	donor_gain	1.0000
21:21085068:GAT:G	donor_gain	1.0000
21:21280572:TTTCA:T	acceptor_loss	1.0000
21:21280573:TTCA:T	acceptor_loss	1.0000
21:21280574:TCAG:T	acceptor_loss	1.0000
21:21280575:CAGCT:C	acceptor_loss	1.0000
21:21280576:A:AG	acceptor_gain	1.0000
21:21280576:AGCT:A	acceptor_loss	1.0000
21:21280577:G:GA	acceptor_gain	1.0000
21:21280577:G:GT	acceptor_loss	1.0000
21:21280577:GCT:G	acceptor_gain	1.0000
21:21280577:GCTC:G	acceptor_gain	1.0000
21:21280649:ACAGG:A	donor_loss	1.0000
21:21280651:AGGT:A	donor_loss	1.0000
21:21280652:GGT:G	donor_loss	1.0000
21:21280653:G:GA	donor_loss	1.0000
21:21280654:T:A	donor_loss	1.0000
21:21284180:A:AG	acceptor_gain	1.0000
21:21284180:AT:A	acceptor_gain	1.0000
21:21284180:ATG:A	acceptor_gain	1.0000
21:21284181:T:A	acceptor_gain	1.0000
21:21284181:T:G	acceptor_gain	1.0000

AlphaMissense

5531 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
21:21338490:T:A	W334R	1.000
21:21338490:T:C	W334R	1.000
21:21338491:G:C	W334S	1.000
21:21338492:G:C	W334C	1.000
21:21338492:G:T	W334C	1.000
21:21373912:T:C	L365P	1.000
21:21410378:T:A	W434R	1.000
21:21410378:T:C	W434R	1.000
21:21466670:T:A	N573K	1.000
21:21466670:T:G	N573K	1.000
21:21284220:T:A	W53R	0.999
21:21284220:T:C	W53R	0.999
21:21284222:G:C	W53C	0.999
21:21284222:G:T	W53C	0.999
21:21284296:T:C	L78S	0.999
21:21284334:T:G	Y91D	0.999
21:21284340:T:C	C93R	0.999
21:21286373:T:A	W148R	0.999
21:21286373:T:C	W148R	0.999
21:21286375:G:C	W148C	0.999
21:21286375:G:T	W148C	0.999
21:21292172:T:G	Y184D	0.999
21:21324493:T:A	W244R	0.999
21:21324493:T:C	W244R	0.999
21:21324495:G:C	W244C	0.999
21:21324495:G:T	W244C	0.999
21:21335564:T:C	L266P	0.999
21:21373939:A:G	D374G	0.999
21:21373939:A:T	D374V	0.999
21:21373950:T:G	Y378D	0.999

dbSNP variants (sampled 300 via entrez): RS1000002413 (21:21537448 A>G), RS1000018061 (21:21144151 C>G), RS1000038440 (21:21039834 T>A), RS1000048812 (21:21048375 C>T), RS1000053993 (21:21500992 T>G), RS1000055555 (21:21201357 A>G), RS1000063332 (21:21439071 A>G), RS1000064046 (21:21416904 T>C), RS1000071749 (21:21157859 T>C), RS1000074632 (21:21106240 C>T), RS1000077662 (21:21256892 C>G), RS1000079265 (21:21523168 G>A,T), RS1000080008 (21:21015721 G>A,T), RS1000086788 (21:21225336 G>T), RS1000089 (21:21429109 A>G,T)

Disease associations

OMIM: gene MIM:602040 | disease phenotypes:

GenCC curated gene-disease

Mondo (2): primary ovarian failure (MONDO:0005387), primary amenorrhea (MONDO:1060208)

Orphanet (1): NON RARE IN EUROPE: Primary ovarian failure (Orphanet:619)

HPO phenotypes

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

GWAS associations

13 associations (top):

Study	Trait	p-value
GCST000785_31	Longevity	1.000000e-06
GCST001057_5	Obesity	4.000000e-08
GCST001525_19	Visceral fat	5.000000e-06
GCST002875_59	Diisocyanate-induced asthma	7.000000e-06
GCST003209_16	Colorectal or endometrial cancer	2.000000e-06
GCST005212_11	Asthma	6.000000e-06
GCST005790_44	Rosacea symptom severity	9.000000e-06
GCST006465_7	Endometrial cancer (endometrioid histology)	2.000000e-07
GCST006585_2314	Blood protein levels	2.000000e-42
GCST009391_571	Metabolite levels	2.000000e-06
GCST010397_108	Gut microbiota (bacterial taxa, rank normal transformation method)	2.000000e-07
GCST010724_27	HOMA-B (corrected for HOMA-IR)	2.000000e-07
GCST011359_18	Venous thromboembolism	9.000000e-09

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0006995	response to diisocyanate
EFO:0004230	endometrial neoplasm
EFO:0009180	rosacea severity measurement
EFO:0021604	hypoxanthine measurement
EFO:0007874	gut microbiome measurement
EFO:0004469	HOMA-B

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D016649	Primary Ovarian Insufficiency	C12.050.351.500.056.630.750; C12.100.250.056.630.750; C19.391.630.750

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects splicing, decreases expression, increases expression	4
Valproic Acid	affects cotreatment, increases expression	3
Benzo(a)pyrene	affects expression, affects methylation, increases methylation	2
Tretinoin	increases expression	2
bisphenol F	affects cotreatment, decreases methylation	1
bisphenol A	affects methylation, affects cotreatment, increases methylation	1
ethyl-p-hydroxybenzoate	increases expression	1
arsenite	increases methylation	1
sulforaphane	decreases expression	1
CGP 52608	affects binding, increases reaction	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
3-hydroxy-4-prenyl-5-methoxystilbene-2-carboxylic acid	increases expression	1
Sunitinib	decreases expression	1
Arsenic Trioxide	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation, decreases methylation	1
Atrazine	decreases expression	1
Cadmium	increases abundance, increases expression	1
Estradiol	decreases expression	1
Ivermectin	decreases expression	1
Lead	affects expression	1
Rotenone	decreases expression	1
Tunicamycin	decreases expression	1
Urethane	increases expression	1
Vanadates	increases expression	1
1-Methyl-4-phenylpyridinium	decreases expression	1
Aflatoxin B1	decreases methylation	1
Gold Compounds	decreases expression	1
Cadmium Chloride	increases abundance, increases expression	1
Okadaic Acid	decreases expression	1

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B8L7	Abcam HCT 116 NCAM2 KO	Cancer cell line	Male
CVCL_B9ND	Abcam A-549 NCAM2 KO	Cancer cell line	Male
CVCL_D2GJ	Abcam MCF-7 NCAM2 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00417066	PHASE4	COMPLETED	Flexible GnRH Antagonist vs Flare up GnRH Agonist Protocol in Poor Responders
NCT00732693	PHASE4	COMPLETED	Evaluation of Physiologic and Standard Sex Steroid Replacement Regimens in Women With Premature Ovarian Failure
NCT00837616	PHASE4	COMPLETED	Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism
NCT01853501	PHASE4	UNKNOWN	Effects of ADSC Therapy in Women With POF
NCT02783937	PHASE4	COMPLETED	Filgrastim for Premature Ovarian Insufficiency
NCT03535480	PHASE4	UNKNOWN	Autologous Bone Marrow Stem Cell Ovarian Transplantation to Restore Ovarian Function in Premature Ovarian Failure
NCT00140998	PHASE3	COMPLETED	Estrogen Treatment (Oral vs. Patches) in Turner Syndrome
NCT00001951	PHASE2	COMPLETED	Hormone Replacement in Young Women With Premature Ovarian Failure
NCT00370019	PHASE2	WITHDRAWN	Effects of an Estrogen Replacement Therapy Skin Patch on Ovulation in Women With Premature Ovarian Failure
NCT00429494	PHASE2	COMPLETED	GnRH Analogue for Ovarian Function Preservation in Hematopoietic Stem Cell Transplantation Patients
NCT03816852	PHASE2	SUSPENDED	The Safety and Efficiency Study of Mesenchymal Stem Cell (19#iSCLife®-POI) in Premature Ovarian Insufficiency
NCT04536467	PHASE2	UNKNOWN	Prevention of Chemotherapy-Induced Ovarian Failure With Goserelin in Premenopausal Lymphoma Patients
NCT06117982	PHASE2	COMPLETED	The Impact of Granulocyte Colony Stimulating Factor on Premature Ovarian Insufficiency
NCT02912104	PHASE1	COMPLETED	A Therapeutic Trial of Human Amniotic Epithelial Cells Transplantation for Primary Ovarian Failure
NCT03178695	PHASE1	COMPLETED	Inovium Ovarian Rejuvenation Trials
NCT04815213	PHASE1	ACTIVE_NOT_RECRUITING	The Use of Expandeded Mesenchymal Stromal Cells (MSC) in Premature Ovarian Failure (POF) in Adult Humans
NCT05138367	PHASE1	COMPLETED	Effects of UCA-PSCs in Women With POF
NCT06132542	PHASE1	UNKNOWN	Autologous ADMSC Transplantation in Patients With POI
NCT00948857	PHASE2/PHASE3	TERMINATED	Dehydroepiandrosterone (DHEA) Treatment and Premature Ovarian Failure (POF)
NCT04031456	PHASE2/PHASE3	RECRUITING	Autologous PRP Infusion May Restore Ovarian Function and May Promote Folliculogenesis in POI Patients
NCT02043743	PHASE1/PHASE2	UNKNOWN	Autologous Stem Cells Transplantation in Patients With Idiopathic and Drug Induced Premature Ovarian Failure
NCT02062931	PHASE1/PHASE2	UNKNOWN	Autologous Mesenchymal Stem Cells Transplantation In Women With Premature Ovarian Failure
NCT02151890	PHASE1/PHASE2	COMPLETED	Pregnancy After Stem Cell Transplantation in Premature Ovarian Failure
NCT02372474	PHASE1/PHASE2	COMPLETED	It is a Real The First Baby Of Autologous Stem Cell Therapy in Premature Ovarian Failure
NCT02603744	PHASE1/PHASE2	UNKNOWN	Autologous Adipose Derived Mesenchymal Stromal Cells Transplantation in Women With Premature Ovarian Failure (POF)
NCT02644447	PHASE1/PHASE2	COMPLETED	Transplantation of HUC-MSCs With Injectable Collagen Scaffold for POF
NCT03069209	PHASE1/PHASE2	UNKNOWN	Autologous Bone Marrow-Derived Stem Cell Transplantation in Patients With Premature Ovarian Failure (POF)
NCT03985462	PHASE1/PHASE2	WITHDRAWN	Very Small Embryonic-like Stem Cells for Ovary
NCT04009473	PHASE1/PHASE2	UNKNOWN	Stem Cell Therapy and Growth Factor Ovarian in Vitro Activation
NCT04071574	PHASE1/PHASE2	COMPLETED	Comparative Study on the Efficacy of Ovarian Stimulation Protocols on the Success Rate of ICSI in Female Infertility
NCT04922398	PHASE1/PHASE2	UNKNOWN	Ovarian Injection of PRP (Platelet -Rich Plasma) Vs Normal Saline in Premature Ovarian Insufficiency
NCT05462379	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Autologous Heterotopic Fresh Ovarian Graft in Woman With LACC Eligible for Pelvic Radiotherapy Treatment.
NCT06202547	PHASE1/PHASE2	UNKNOWN	Intra-ovarian Injection of MSC-EVs in Idiopathic Premature Ovarian Failure
NCT01129947	EARLY_PHASE1	WITHDRAWN	The Use of DHEA in Women With Premature Ovarian Failure
NCT05522634	EARLY_PHASE1	UNKNOWN	A Clinical Study of Chinese Herbal Compound TJAOA101 in the Treatment of Premature Ovarian Insufficiency
NCT07308327	EARLY_PHASE1	ACTIVE_NOT_RECRUITING	The Influence of Gut Microbiota on Ovarian Function: A Single-center, Randomized,Double Blind, Parallel-controlled, Exploratory Clinical Trial
NCT00001275	Not specified	COMPLETED	Ovarian Follicle Function in Patients With Primary Ovarian Failure
NCT00001306	Not specified	COMPLETED	Steroid Therapy in Autoimmune Premature Ovarian Failure
NCT00006156	Not specified	COMPLETED	Feasibility Study for Development of an Early Test for Ovarian Failure
NCT00119925	Not specified	UNKNOWN	‘SPRING’-Study: Subfertility Guidelines: Patient Related Implementation in the Netherlands Among Gynaecologists