NCAM1
geneOn this page
Also known as NCAMCD56
Summary
NCAM1 (neural cell adhesion molecule 1, HGNC:7656) is a protein-coding gene on chromosome 11q23.2, encoding Neural cell adhesion molecule 1 (P13591). This protein is a cell adhesion molecule involved in neuron-neuron adhesion, neurite fasciculation, outgrowth of neurites, etc.
This gene encodes a cell adhesion protein which is a member of the immunoglobulin superfamily. The encoded protein is involved in cell-to-cell interactions as well as cell-matrix interactions during development and differentiation. The encoded protein plays a role in the development of the nervous system by regulating neurogenesis, neurite outgrowth, and cell migration. This protein is also involved in the expansion of T lymphocytes, B lymphocytes and natural killer (NK) cells which play an important role in immune surveillance. This protein plays a role in signal transduction by interacting with fibroblast growth factor receptors, N-cadherin and other components of the extracellular matrix and by triggering signalling cascades involving FYN-focal adhesion kinase (FAK), mitogen-activated protein kinase (MAPK), and phosphatidylinositol 3-kinase (PI3K). One prominent isoform of this gene, cell surface molecule CD56, plays a role in several myeloproliferative disorders such as acute myeloid leukemia and differential expression of this gene is associated with differential disease progression. For example, increased expression of CD56 is correlated with lower survival in acute myeloid leukemia patients whereas increased severity of COVID-19 is correlated with decreased abundance of CD56-expressing NK cells in peripheral blood. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms.
Source: NCBI Gene 4684 — RefSeq curated summary.
At a glance
- GWAS associations: 50
- Clinical variants (ClinVar): 54 total — 1 pathogenic
- Druggable target: yes
- MANE Select transcript:
NM_181351
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:7656 |
| Approved symbol | NCAM1 |
| Name | neural cell adhesion molecule 1 |
| Location | 11q23.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | NCAM, CD56 |
| Ensembl gene | ENSG00000149294 |
| Ensembl biotype | protein_coding |
| OMIM | 116930 |
| Entrez | 4684 |
Gene structure
Transcript identifiers
Ensembl transcripts: 26 — 15 protein_coding, 6 retained_intron, 4 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000316851, ENST00000401611, ENST00000524916, ENST00000525355, ENST00000525691, ENST00000525973, ENST00000526322, ENST00000528158, ENST00000528590, ENST00000529356, ENST00000530090, ENST00000530543, ENST00000531044, ENST00000531817, ENST00000533073, ENST00000533226, ENST00000534046, ENST00000534516, ENST00000611284, ENST00000613217, ENST00000615525, ENST00000617166, ENST00000619839, ENST00000620046, ENST00000621128, ENST00000621850
RefSeq mRNA: 30 — MANE Select: NM_181351
NM_000615, NM_001076682, NM_001242607, NM_001242608, NM_001386289, NM_001386290, NM_001386291, NM_001386292, NM_001400603, NM_001400604, NM_001400605, NM_001400606, NM_001400607, NM_001400608, NM_001400609, NM_001400610, NM_001400611, NM_001400612, NM_001400613, NM_001400615, NM_001400616, NM_001400617, NM_001400618, NM_001400619, NM_001400620, NM_001400621, NM_001400622, NM_001400623, NM_001400624, NM_181351
CCDS: CCDS73384, CCDS73385, CCDS73386, CCDS73387, CCDS73388, CCDS91595
Canonical transcript exons
ENST00000316851 — 20 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003471992 | 113221296 | 113221325 |
| ENSE00003479684 | 113206043 | 113206180 |
| ENSE00003492790 | 113271760 | 113271876 |
| ENSE00003494379 | 113202379 | 113202453 |
| ENSE00003502948 | 113260146 | 113260323 |
| ENSE00003533558 | 113232170 | 113232354 |
| ENSE00003584378 | 113231645 | 113231795 |
| ENSE00003611511 | 113207833 | 113208002 |
| ENSE00003643236 | 113232718 | 113232814 |
| ENSE00003649418 | 113270188 | 113270395 |
| ENSE00003653453 | 113205523 | 113205666 |
| ENSE00003655908 | 113207261 | 113207378 |
| ENSE00003681514 | 113204286 | 113204504 |
| ENSE00003691564 | 113235033 | 113235164 |
| ENSE00003693988 | 113214369 | 113214511 |
| ENSE00003723845 | 113275267 | 113278436 |
| ENSE00003724801 | 113233147 | 113233317 |
| ENSE00003726501 | 113246368 | 113246370 |
| ENSE00003747920 | 113255877 | 113256001 |
| ENSE00003906045 | 112961420 | 112961664 |
Expression profiles
Bgee: expression breadth ubiquitous, 266 present calls, max score 99.64.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 47.3230 / max 2279.5144, expressed in 1034 samples.
FANTOM5 promoters (9 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 116727 | 39.1888 | 1005 |
| 116728 | 2.6151 | 476 |
| 116726 | 2.5266 | 513 |
| 206449 | 0.8985 | 306 |
| 116745 | 0.7884 | 103 |
| 116742 | 0.4004 | 182 |
| 116741 | 0.3297 | 179 |
| 116744 | 0.3079 | 58 |
| 116743 | 0.2677 | 92 |
Top tissues by expression
283 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 99.64 | gold quality |
| ventricular zone | UBERON:0003053 | 99.00 | gold quality |
| ganglionic eminence | UBERON:0004023 | 98.97 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 98.95 | gold quality |
| entorhinal cortex | UBERON:0002728 | 98.76 | gold quality |
| corpus callosum | UBERON:0002336 | 98.67 | gold quality |
| endothelial cell | CL:0000115 | 98.62 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 98.56 | gold quality |
| pons | UBERON:0000988 | 98.52 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 98.50 | gold quality |
| prefrontal cortex | UBERON:0000451 | 98.47 | gold quality |
| parietal lobe | UBERON:0001872 | 98.41 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 98.41 | gold quality |
| temporal lobe | UBERON:0001871 | 98.37 | gold quality |
| postcentral gyrus | UBERON:0002581 | 98.35 | gold quality |
| ventral tegmental area | UBERON:0002691 | 98.32 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 98.24 | gold quality |
| spinal cord | UBERON:0002240 | 98.22 | gold quality |
| frontal cortex | UBERON:0001870 | 98.18 | gold quality |
| cerebral cortex | UBERON:0000956 | 98.14 | gold quality |
| telencephalon | UBERON:0001893 | 98.12 | gold quality |
| Ammon’s horn | UBERON:0001954 | 98.12 | gold quality |
| neocortex | UBERON:0001950 | 98.11 | gold quality |
| caudate nucleus | UBERON:0001873 | 98.09 | gold quality |
| amygdala | UBERON:0001876 | 98.09 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 98.09 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 98.07 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 98.03 | gold quality |
| nucleus accumbens | UBERON:0001882 | 98.00 | gold quality |
| putamen | UBERON:0001874 | 97.97 | gold quality |
Single-cell (SCXA)
Detected in 11 experiment(s), a significant marker in 8.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-2 | yes | 1530.88 |
| E-HCAD-56 | yes | 1387.46 |
| E-MTAB-6678 | yes | 671.15 |
| E-GEOD-84465 | yes | 27.23 |
| E-CURD-112 | yes | 16.30 |
| E-MTAB-8410 | yes | 16.01 |
| E-MTAB-7316 | yes | 13.67 |
| E-ANND-3 | yes | 6.52 |
| E-MTAB-11268 | no | 1198.77 |
| E-MTAB-7303 | no | 827.99 |
| E-GEOD-93593 | no | 15.57 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): ALX4, ARID1B, BARX1, BARX2, BTBD3, CEBPB, CUX1, CUX2, DMRTA1, HOXA1, HOXB9, HOXC6, HOXC8, HR, IRF9, JUN, LEF1, MYC, NFKB1, NFKB, NFKBIZ, NSD2, OTX2, PAX2, PAX5, PAX6, PAX8, PHOX2A, RELA, RUNX1, SOX2, SOX4, SP1, TP73
miRNA regulators (miRDB)
203 targeting NCAM1, 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-6867-5P | 100.00 | 82.21 | 3464 |
| 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| 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-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-3689D | 100.00 | 66.14 | 1181 |
| HSA-MIR-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-MIR-511-3P | 99.99 | 68.85 | 1467 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
Literature-anchored findings (GeneRIF, showing 40)
- NCAM 105-115 kDa is a protease- and neuraminidase-susceptible fragment and was correlated with ventricular enlargement in chronic schizophrenia (p = 0.01). Release of NCAM fragments in schizophrenia may be part of the pathogenic mechanism. (PMID:11681838)
- Significance of cell adhesion molecules, CD56/NCAM in particular, in human tumor growth and spreading. (PMID:11820619)
- exists in lipid microdomains and transducts cell signalings via regulating the activation of signal transduction molecules (PMID:11915324)
- PSA-NCAM was found to be expressed in the somata, dendrites and axonal processes of some neurons, which were identified as chandelier cell axon terminals (chandelier terminals), in the adult human entorhinal cortex and neocortex. (PMID:12003861)
- CD56 expression predicts occurrence of CNS disease in acute lymphoblastic leukemia but not CR or survival. CD56 may enable targeting of leukemic cells to tissues that express it. (PMID:12008081)
- CD56 molecules on NK cells interact with fibroblast growth factor receptor 1 on Jurkat T cells to trigger IL-2 production. (PMID:12121226)
- Preferential apoptosis of CD56dim natural killer cell subset in patients with cancer. (PMID:12594840)
- a useful immunohistochemical marker of Merkel cell carcinoma (PMID:12727026)
- which the polysialyltransferases bind to the first fibronectin type III repeat (FN1) of NCAM to polymerize polysialic acid chains on appropriately presented glycans in adjacent regions. (PMID:12791681)
- Strong overexpression of NCAM(CD56) and RUNX1(AML1) is a constant and characteristic feature of cardiomyocytes within or adjacent to scars in ICM. (PMID:12937148)
- Natural killer (NK) cells expressing high CD56 levels are terminally differentiated cells identical to mature NK cells recently activated in the presence of IL-12, and not a functionally distinct subset or progenitors to mature CD56+low NK cells. (PMID:14688313)
- there are two types of CD56+ epithelial cells in the pancreatic duct system: CD56+ endocrine cells are numerous during the early stage of gestation while CD56+ luminal cells may represent developmental and regenerative changes of pancreatic ducts. (PMID:14726964)
- CD56 is expressed in bone marrow of acute myelogenous leukemias but not acute lymphoblastic leukemia (PMID:14959847)
- Alzheimer patients presented values of low molecular weight-NCAM and high molecular weight-NCAM significantly higher than healthy controls of similar age (higher than 130 kDa) (PMID:15006709)
- genetic variations in neural cell adhesion molecule 1 or nearby genes could confer risks associated with bipolar affective disorder in Japanese individuals. (PMID:15050861)
- REVIEW: Prognostic significance of CD56 expressed in multiple myeloma (PMID:15061198)
- CD56 expression was associated with the leukemogenetic mutation at the primitive hematopoietic progenitor cell level (PMID:15223636)
- Unlike wild-type FGFR4, pituitary tumor derived-FGFR4 does not associate with neural cell-adhesion molecule (NCAM). (PMID:15231874)
- Cells expressing this antigen repond to a Wilms tumor cell line feeder cells and are precursors of NK cells. (PMID:15246157)
- Pre-activated, adherent-natural killer cells express low levels of CD56 and CD161 (PMID:15356097)
- There is a close relationship between PSA-NCAM expression and neuronal migration. (PMID:15459479)
- CD56bright natural killer cells accumulate in inflammatory lesions and, in the appropriate cytokine environment, can engage with CD14+ monocytes in a reciprocal activatory fashion, thereby amplifying the inflammatory response. (PMID:15528382)
- first pediatric case describing coexpression of CD56 on B-lineage acute lymphoblastic leukemia (PMID:15626024)
- CD56 seems to be the most sensitive marker for the diagnosis of SCC of the uterine cervix (PMID:15782066)
- A significant increase was observed in PSA-NCAM, NCAM-180, NCAM-140, and HSP70 expression as seen by Western blotting and immunocytofluorescent studies in NMDA-treated cultures. (PMID:15950781)
- polysialyltransferase ST8Sia IV/PST recognizes specific amino acids in the first fibronectin type III repeat of the neural cell adhesion molecule (PMID:16027151)
- analysis of polymerization of polysialic acid on neural cell adhesion molecules (PMID:16172115)
- NCAM is associated not only with a cell-to-cell adhesion mechanism, but also with tumorigenesis, including growth, development and perineural invasion in human salivary gland tumors (PMID:16211277)
- CD56(bright) and CD56(dim) human natural killer-cell subsets exert different functional and cytotoxic activities in response to a live bacterial pathogen. (PMID:16316416)
- The new role of Neural Cell Adhesion Molecules in tumor neo-angiogenesis relevant for endothelial cell organization into capillary-like structures. (PMID:16406048)
- NCAM is hyposialylated in hereditary inclusion body myopathy skeletal) muscle. (PMID:16534119)
- Tests whether activation and expansion of human NK cells with lipopolysaccharide (LPS) reveals differences between identical twins with regaard to C56 antigen. (PMID:16572491)
- The gene expression profile of hepatic stem cells throughout life consists of high levels of expression of neuronal cell adhesion molecule (NCAM). (PMID:16627685)
- identified co-induction of NKG2A and CD56 on activation of TH2 cells (PMID:16690409)
- Isolation of 3 novel isoforms of AML 1 (RUNX1) with different transactivating function, that might be a regulatory element of the NCAM (CD56) overexpression in chronic myocardial ischemia. (PMID:16892559)
- the FN1 alpha-helix is involved in an Ig5-FN1 interaction that is critical for the correct positioning of Ig5 N-glycans for polysialylation (PMID:17003032)
- Co-immunoprecipitation and co-clustering paradigms were used to show that both NCAM and N-cadherin can interact with the 3Ig IIIC isoform of the FGFR1 in a number of cell types. (PMID:17005551)
- NCAM1 along with RUNX1 is overexpressed during stress hematopoiesis in Down syndrome children and may contribute to the development of overt leukemia. (PMID:17043020)
- In the “Europe only” stratum, there were nominally significant associations with five contiguous SNPs. (PMID:17161382)
- Neuroblastoma cells resistant to anticancer drugs have increased invasive capacity caused by down-regulation of NCAM adhesion receptor. (PMID:17181871)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ncam1b | ENSDARG00000007220 |
| danio_rerio | ncam1a | ENSDARG00000056181 |
| mus_musculus | Ncam1 | ENSMUSG00000039542 |
| rattus_norvegicus | Ncam1 | ENSRNOG00000031890 |
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), CNTN5 (ENSG00000149972), IGSF10 (ENSG00000152580), ROBO4 (ENSG00000154133), ROBO3 (ENSG00000154134), NCAM2 (ENSG00000154654), 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 1 — P13591 (reviewed: P13591)
All UniProt accessions (12): P13591, A0A087WTR3, A0A087WVD0, A0A087WVU1, A0A087WWD4, A0A087WWJ5, A0A087WZS4, A0A087X1V2, A0A0C4DGS4, A0A0D9SF30, A0A0D9SF98, H7BYX6
UniProt curated annotations — full annotation on UniProt →
Function. This protein is a cell adhesion molecule involved in neuron-neuron adhesion, neurite fasciculation, outgrowth of neurites, etc. (Microbial infection) Acts as a receptor for rabies virus. (Microbial infection) Acts as a receptor for Zika virus.
Subunit / interactions. (Microbial infection) Interacts with rabies virus glycoprotein. (Microbial infection) Interacts with Zika virus envelope protein E. Interacts with MDK. Found in a complex with SLC39A6, SLC39A10 and with NCAM1; this complex controls NCAM1 phosphorylation and integration into focal adhesion complexes during epithelial-tomesenchymal transition. Interacts with synaptic plasticity regulator PANTS.
Subcellular location. Cell membrane Cell membrane Cell membrane Cell membrane Secreted Secreted.
Post-translational modifications. Polysialylated at Asn-459 and Asn-488 by ST8SIA2 and ST8SIA4. Polysialylation modulates cell interactions by confering both attractive and repulsive properties that are highly regulated by ST8SIA2 and ST8SIA4. Polysialylation is formed on a-2,3-linked sialic acid of core glycans.
Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Isoforms (6)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P13591-2 | 1 | yes |
| P13591-1 | 2, N-CAM 140 | |
| P13591-3 | 3, N-CAM 120 | |
| P13591-4 | 4 | |
| P13591-5 | 5, C | |
| P13591-6 | 6 |
RefSeq proteins (30): NP_000606, NP_001070150, NP_001229536, NP_001229537, NP_001373218, NP_001373219, NP_001373220, NP_001373221, NP_001387532, NP_001387533, NP_001387534, NP_001387535, NP_001387536, NP_001387537, NP_001387538, NP_001387539, NP_001387540, NP_001387541, NP_001387542, NP_001387544, NP_001387545, NP_001387546, NP_001387547, NP_001387548, NP_001387549, NP_001387550, NP_001387551, NP_001387552, NP_001387553, NP_851996* (*=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 |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR036116 | FN3_sf | Homologous_superfamily |
| IPR036179 | Ig-like_dom_sf | Homologous_superfamily |
Pfam: PF00041, PF07679, PF13927
UniProt features (89 total): strand 33, splice variant 8, sequence conflict 8, domain 7, glycosylation site 6, disulfide bond 5, sequence variant 4, mutagenesis site 3, helix 3, compositionally biased region 2, modified residue 2, topological domain 2, lipid moiety-binding region 2, signal peptide 1, chain 1, region of interest 1, transmembrane region 1
Structure
Experimental structures (PDB)
7 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2HAZ | X-RAY DIFFRACTION | 1.7 |
| 3MTR | X-RAY DIFFRACTION | 1.8 |
| 5AEA | X-RAY DIFFRACTION | 1.9 |
| 2E3V | X-RAY DIFFRACTION | 1.95 |
| 2VKW | X-RAY DIFFRACTION | 2.3 |
| 2VKX | X-RAY DIFFRACTION | 2.7 |
| 5LKN | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P13591-F1 | 79.94 | 0.54 |
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 (4): 780, 784, 741, 706
Disulfide bonds (5): 41–96, 139–189, 235–287, 329–395, 436–489
Glycosylation sites (6): 222, 315, 347, 433, 459, 488
Mutagenesis-validated functional residues (3):
| Position | Phenotype |
|---|---|
| 433 | loss of polysialic acid addition by st8sia4; when associated with q-459 and q-488. loss of polysialic acid addition by s |
| 459 | loss of polysialic acid addition by st8sia4; when associated with q-433 and q-488. loss of polysialic acid addition by s |
| 488 | loss of polysialic acid addition by st8sia4; when associated with q-433 and q-459. loss of polysialic acid addition by s |
Function
Pathways and Gene Ontology
Reactome pathways
17 pathways
| ID | Pathway |
|---|---|
| R-HSA-3000178 | ECM proteoglycans |
| R-HSA-375165 | NCAM signaling for neurite out-growth |
| R-HSA-419037 | NCAM1 interactions |
| R-HSA-445144 | Signal transduction by L1 |
| R-HSA-5673001 | RAF/MAP kinase cascade |
| R-HSA-877300 | Interferon gamma signaling |
| R-HSA-1266738 | Developmental Biology |
| R-HSA-1280215 | Cytokine Signaling in Immune system |
| R-HSA-1474244 | Extracellular matrix organization |
| R-HSA-162582 | Signal Transduction |
| R-HSA-168256 | Immune System |
| R-HSA-373760 | L1CAM interactions |
| R-HSA-422475 | Axon guidance |
| R-HSA-5683057 | MAPK family signaling cascades |
| R-HSA-5684996 | MAPK1/MAPK3 signaling |
| R-HSA-913531 | Interferon Signaling |
| R-HSA-9675108 | Nervous system development |
MSigDB gene sets: 385 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_UP, RNGTGGGC_UNKNOWN, VERHAAK_AML_WITH_NPM1_MUTATED_DN, AGGAAGC_MIR5163P, MODULE_92, BENPORATH_ES_WITH_H3K27ME3, WWTAAGGC_UNKNOWN, MODULE_274, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, YAO_HOXA10_TARGETS_VIA_PROGESTERONE_UP, PAL_PRMT5_TARGETS_UP, GCANCTGNY_MYOD_Q6, TTTGTAG_MIR520D, GCM_ZNF198, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_UP
GO Biological Process (5): epithelial to mesenchymal transition (GO:0001837), cell adhesion (GO:0007155), commissural neuron axon guidance (GO:0071679), regulation of semaphorin-plexin signaling pathway (GO:2001260), symbiont entry into host cell (GO:0046718)
GO Molecular Function (2): virus receptor activity (GO:0001618), protein binding (GO:0005515)
GO Cellular Component (10): Golgi membrane (GO:0000139), extracellular region (GO:0005576), cytosol (GO:0005829), plasma membrane (GO:0005886), external side of plasma membrane (GO:0009897), cell surface (GO:0009986), membrane (GO:0016020), extracellular matrix (GO:0031012), neuron projection (GO:0043005), side of membrane (GO:0098552)
Reactome top-level categories
Rollup of top-12 pathways:
| Category | Pathways |
|---|---|
| Axon guidance | 2 |
| Extracellular matrix organization | 1 |
| NCAM signaling for neurite out-growth | 1 |
| L1CAM interactions | 1 |
| MAPK1/MAPK3 signaling | 1 |
| Interferon Signaling | 1 |
| Immune System | 1 |
| Nervous system development | 1 |
| Signal Transduction | 1 |
| MAPK family signaling cascades | 1 |
| Cytokine Signaling in Immune system | 1 |
| Developmental Biology | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 5 |
| membrane | 2 |
| mesenchymal cell differentiation | 1 |
| cellular process | 1 |
| axon guidance | 1 |
| regulation of signal transduction | 1 |
| semaphorin-plexin signaling pathway | 1 |
| viral life cycle | 1 |
| symbiont entry into host | 1 |
| symbiont entry into host cell | 1 |
| exogenous protein binding | 1 |
| binding | 1 |
| Golgi apparatus | 1 |
| bounding membrane of organelle | 1 |
| cytoplasm | 1 |
| cell periphery | 1 |
| plasma membrane | 1 |
| cell surface | 1 |
| side of membrane | 1 |
| external encapsulating structure | 1 |
| plasma membrane bounded cell projection | 1 |
| leaflet of membrane bilayer | 1 |
Protein interactions and networks
STRING
4874 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NCAM1 | FCGR3A | P08637 | 990 |
| NCAM1 | FCGR3B | O75015 | 990 |
| NCAM1 | CD19 | P15391 | 972 |
| NCAM1 | CDH2 | P19022 | 966 |
| NCAM1 | FGFR1 | P11362 | 942 |
| NCAM1 | GFRA1 | P56159 | 938 |
| NCAM1 | CD2 | P06729 | 918 |
| NCAM1 | PRF1 | P14222 | 916 |
| NCAM1 | B3GAT1 | Q9P2W7 | 915 |
| NCAM1 | PRNP | P04156 | 910 |
| NCAM1 | NCR3 | O14931 | 908 |
| NCAM1 | NCR1 | O76036 | 901 |
| NCAM1 | CD7 | P09564 | 898 |
| NCAM1 | GDNF | P39905 | 897 |
| NCAM1 | NCR2 | O95944 | 893 |
IntAct
85 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| FPR2 | ARL6IP5 | psi-mi:“MI:0914”(association) | 0.640 |
| SLC39A5 | FAM171A2 | psi-mi:“MI:0914”(association) | 0.640 |
| GRK2 | NCAM1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| STUB1 | NCAM1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NUFIP1 | PDE2A | psi-mi:“MI:0914”(association) | 0.530 |
| REEP5 | SCAMP1 | psi-mi:“MI:0914”(association) | 0.530 |
| REEP1 | PLSCR1 | psi-mi:“MI:0914”(association) | 0.530 |
| REEP5 | PLSCR1 | psi-mi:“MI:0914”(association) | 0.530 |
| CLEC4A | SEMA7A | psi-mi:“MI:0914”(association) | 0.530 |
| NRAS | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.480 |
| St8sia2 | NCAM1 | psi-mi:“MI:0559”(glycosylation reaction) | 0.440 |
| ST8SIA4 | NCAM1 | psi-mi:“MI:0559”(glycosylation reaction) | 0.440 |
| NCAM1 | FGFR1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| NCAM1 | NCAM1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| NCAM1 | UCHL1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SIGLEC9 | NCAM1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| NPTN | NCAM1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| NCAM1 | RHEB | psi-mi:“MI:0915”(physical association) | 0.370 |
| NCAM1 | ATXN1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| M | PGRMC1 | psi-mi:“MI:0914”(association) | 0.350 |
| PRNP | WDR91 | psi-mi:“MI:0914”(association) | 0.350 |
| FGFR4 | NDUFA4 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (116): NCAM1 (Affinity Capture-MS), NCAM1 (Affinity Capture-MS), NCAM1 (Affinity Capture-MS), NCAM1 (Affinity Capture-MS), NCAM1 (Affinity Capture-MS), NCAM1 (Affinity Capture-MS), NCAM1 (Affinity Capture-MS), NCAM1 (Affinity Capture-MS), NCAM1 (Affinity Capture-MS), NCAM1 (Affinity Capture-MS), NCAM1 (Affinity Capture-MS), NCAM1 (Affinity Capture-MS), NCAM1 (Affinity Capture-MS), NCAM1 (Affinity Capture-MS), NCAM1 (Affinity Capture-MS)
ESM2 similar proteins: D3ZB51, E9PZ19, M0RAS4, O60242, O60245, O70472, O75882, O94779, P13590, P13591, P13595, P13596, P15209, P24786, P31836, P51641, P68500, P78539, P97300, P97527, P97546, Q01973, Q03351, Q15223, Q16288, Q16620, Q5IFJ9, Q5IS37, Q5IS82, Q63604, Q63769, Q6A051, Q6AZB0, Q6GQT9, Q6P1D5, Q6VNS1, Q7TNR6, Q80T74, Q80ZF8, Q8R4I7
Diamond homologs: A0A452E9Y6, A1KZ92, A2ASS6, A4IGL7, A5JUY8, A8WQH2, B0V2N1, B3A0P3, B3A0Q8, D3YXG0, G5EG78, O15146, O42414, O60469, O61213, O94779, P05164, P07202, P09933, P11247, P11678, P13591, P13595, P13596, P14650, P14781, P20241, P22063, P22079, P23468, P29533, P29534, P31836, P35419, P49290, P68500, P80025, P90820, P97528, P98160
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ALX4 | “down-regulates quantity by repression” | NCAM1 | “transcriptional regulation” |
| LEF1 | “up-regulates activity” | NCAM1 | “transcriptional regulation” |
| GDNF | “up-regulates activity” | NCAM1 | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 103 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 |
|---|---|---|---|
| NCAM signaling for neurite out-growth | 6 | 23.3× | 3e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
54 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 25 |
| Likely benign | 2 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1098336 | NM_181351.5(NCAM1):c.1923dup (p.Ile642fs) | Pathogenic |
SpliceAI
4935 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:113040844:A:AG | acceptor_gain | 1.0000 |
| 11:113040845:C:G | acceptor_gain | 1.0000 |
| 11:113133366:T:TA | acceptor_gain | 1.0000 |
| 11:113133371:T:TA | acceptor_gain | 1.0000 |
| 11:113133379:A:AG | acceptor_gain | 1.0000 |
| 11:113133379:AACCT:A | acceptor_gain | 1.0000 |
| 11:113133380:A:G | acceptor_gain | 1.0000 |
| 11:113133383:T:TA | acceptor_gain | 1.0000 |
| 11:113204284:A:AG | acceptor_gain | 1.0000 |
| 11:113204284:AGT:A | acceptor_gain | 1.0000 |
| 11:113204285:G:GA | acceptor_gain | 1.0000 |
| 11:113204285:GT:G | acceptor_gain | 1.0000 |
| 11:113204285:GTG:G | acceptor_gain | 1.0000 |
| 11:113204469:G:GG | donor_gain | 1.0000 |
| 11:113204500:CTTTC:C | donor_gain | 1.0000 |
| 11:113204501:TTTC:T | donor_gain | 1.0000 |
| 11:113204502:TTC:T | donor_gain | 1.0000 |
| 11:113204502:TTCG:T | donor_loss | 1.0000 |
| 11:113204503:TC:T | donor_gain | 1.0000 |
| 11:113204503:TCGT:T | donor_loss | 1.0000 |
| 11:113204504:CGTAA:C | donor_loss | 1.0000 |
| 11:113204505:G:GG | donor_gain | 1.0000 |
| 11:113204505:GT:G | donor_loss | 1.0000 |
| 11:113204506:T:A | donor_loss | 1.0000 |
| 11:113205520:CAGA:C | acceptor_loss | 1.0000 |
| 11:113205521:A:AG | acceptor_gain | 1.0000 |
| 11:113205521:AG:A | acceptor_loss | 1.0000 |
| 11:113205522:G:GG | acceptor_gain | 1.0000 |
| 11:113205522:GA:G | acceptor_gain | 1.0000 |
| 11:113205522:GAG:G | acceptor_loss | 1.0000 |
AlphaMissense
5659 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:113207373:G:C | W247C | 1.000 |
| 11:113207373:G:T | W247C | 1.000 |
| 11:113214473:T:A | W341R | 1.000 |
| 11:113214473:T:C | W341R | 1.000 |
| 11:113214475:G:C | W341C | 1.000 |
| 11:113214475:G:T | W341C | 1.000 |
| 11:113231694:T:C | L380P | 1.000 |
| 11:113231732:T:G | Y393D | 1.000 |
| 11:113232271:T:A | W448R | 1.000 |
| 11:113232271:T:C | W448R | 1.000 |
| 11:113232273:G:C | W448C | 1.000 |
| 11:113232273:G:T | W448C | 1.000 |
| 11:113232350:T:C | L474P | 1.000 |
| 11:113232771:C:A | N493K | 1.000 |
| 11:113232771:C:G | N493K | 1.000 |
| 11:113204320:G:C | W54C | 0.999 |
| 11:113204320:G:T | W54C | 0.999 |
| 11:113204400:T:C | L81P | 0.999 |
| 11:113204438:T:G | Y94D | 0.999 |
| 11:113205627:T:A | W151R | 0.999 |
| 11:113205627:T:C | W151R | 0.999 |
| 11:113205629:G:C | W151C | 0.999 |
| 11:113205629:G:T | W151C | 0.999 |
| 11:113206073:T:C | L174P | 0.999 |
| 11:113206111:T:G | Y187D | 0.999 |
| 11:113207371:T:A | W247R | 0.999 |
| 11:113207371:T:C | W247R | 0.999 |
| 11:113207372:G:C | W247S | 0.999 |
| 11:113207901:T:C | L272P | 0.999 |
| 11:113207939:T:G | Y285D | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000001757 (11:113182613 T>C), RS1000017383 (11:113270147 T>A), RS1000063052 (11:113012056 T>C), RS1000087888 (11:113194179 T>C,G), RS1000090738 (11:113263846 G>A), RS1000091760 (11:113142078 C>T), RS1000095258 (11:113222384 G>A), RS1000099720 (11:113030484 T>A,C), RS1000122924 (11:113047730 G>A), RS1000133868 (11:113240418 G>T), RS1000192230 (11:113005966 A>G), RS1000196511 (11:112962115 A>C), RS1000203201 (11:112961873 G>C), RS1000204162 (11:113160071 T>C), RS1000219898 (11:113257847 T>C,G)
Disease associations
OMIM: gene MIM:116930 | disease phenotypes:
GenCC curated gene-disease
Mondo (2): autism spectrum disorder (MONDO:0005258), hereditary breast ovarian cancer syndrome (MONDO:0003582)
Orphanet (2): Hereditary breast and/or ovarian cancer syndrome (Orphanet:145), NON RARE IN EUROPE: Autism (Orphanet:106)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
50 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000894_3 | Entorhinal cortical thickness | 9.000000e-06 |
| GCST000936_1 | Cardiac muscle measurement | 3.000000e-07 |
| GCST000936_2 | Cardiac muscle measurement | 9.000000e-07 |
| GCST000936_3 | Cardiac muscle measurement | 4.000000e-09 |
| GCST002503_3 | Suicide attempts in depression or bipolar disorder | 2.000000e-06 |
| GCST002783_304 | Body mass index | 1.000000e-07 |
| GCST002783_610 | Body mass index | 2.000000e-07 |
| GCST003174_1 | Sense of smell | 8.000000e-06 |
| GCST003382_3 | Cannabis use | 9.000000e-07 |
| GCST003855_17 | Gut microbiota (bacterial taxa) | 3.000000e-08 |
| GCST006288_190 | Heel bone mineral density | 2.000000e-06 |
| GCST006288_50 | Heel bone mineral density | 9.000000e-11 |
| GCST006421_5 | Cannabis use | 1.000000e-10 |
| GCST006585_1719 | Blood protein levels | 1.000000e-10 |
| GCST006940_13 | Neurociticism | 4.000000e-12 |
| GCST006943_13 | Feeling miserable | 1.000000e-09 |
| GCST006944_50 | Experiencing mood swings | 9.000000e-09 |
| GCST006952_5 | Feeling tense | 5.000000e-11 |
| GCST006976_136 | Macular thickness | 4.000000e-08 |
| GCST006979_421 | Heel bone mineral density | 1.000000e-23 |
| GCST006979_422 | Heel bone mineral density | 2.000000e-42 |
| GCST007096_227 | Pulse pressure | 3.000000e-09 |
| GCST007099_187 | Systolic blood pressure | 4.000000e-08 |
| GCST007323_106 | Risk-taking tendency (4-domain principal component model) | 4.000000e-24 |
| GCST007326_110 | Number of sexual partners | 5.000000e-11 |
| GCST007327_122 | Smoking status (ever vs never smokers) | 3.000000e-09 |
| GCST007327_141 | Smoking status (ever vs never smokers) | 4.000000e-09 |
| GCST007327_202 | Smoking status (ever vs never smokers) | 7.000000e-48 |
| GCST007327_218 | Smoking status (ever vs never smokers) | 1.000000e-13 |
| GCST007335_23 | Age at first sexual intercourse | 2.000000e-09 |
EFO canonical traits (27, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004840 | cortical thickness |
| EFO:0003896 | left ventricular hypertrophy |
| EFO:0004298 | cardiovascular measurement |
| EFO:0004321 | attempted suicide |
| EFO:0004340 | body mass index |
| EFO:0007585 | Cannabis use |
| EFO:0007874 | gut microbiome measurement |
| EFO:0009270 | heel bone mineral density |
| EFO:0007660 | neuroticism measurement |
| EFO:0009598 | feeling miserable measurement |
| EFO:0008475 | mood instability measurement |
| EFO:0009596 | feeling tense measurement |
| EFO:0005763 | pulse pressure measurement |
| EFO:0006335 | systolic blood pressure |
| EFO:0008579 | risk-taking behaviour |
| EFO:0004318 | smoking behavior |
| EFO:0009749 | age at first sexual intercourse measurement |
| EFO:0005670 | smoking initiation |
| EFO:0006781 | coffee consumption measurement |
| EFO:0004337 | intelligence |
| EFO:0004784 | self reported educational attainment |
| EFO:0006527 | smoking status measurement |
| EFO:0010091 | tea consumption measurement |
| EFO:0004574 | total cholesterol measurement |
| EFO:0005658 | response to selective serotonin reuptake inhibitor |
| EFO:0004611 | low density lipoprotein cholesterol measurement |
| EFO:0009885 | frailty measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D061325 | Hereditary Breast and Ovarian Cancer Syndrome | C04.588.180.483; C04.588.322.455.431; C04.700.517; C12.050.351.500.056.630.705.431; C12.050.351.937.418.685.431; C12.100.250.056.630.705.431; C12.900.418.685.431; C16.320.700.517; C17.800.090.500.483; C19.344.410.431; C19.391.630.705.431 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL3712938 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB clinical annotations
1 annotations.
| Variant | Type | Level | Drugs | Phenotypes |
|---|---|---|---|---|
| rs2303377 | Efficacy | 3 | duloxetine | Major Depressive Disorder |
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs2303377 | NCAM1 | 3 | 3.00 | 1 | duloxetine |
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: other protein — CD molecules
CTD chemical–gene interactions
70 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, affects cotreatment, increases expression | 9 |
| trichostatin A | affects cotreatment, increases expression | 4 |
| nickel chloride | affects cotreatment, increases expression, increases reaction | 2 |
| mercuric bromide | affects cotreatment, decreases expression | 2 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression, decreases expression, affects cotreatment | 2 |
| Acetaminophen | affects expression, increases expression | 2 |
| Arsenic | affects expression | 2 |
| Atrazine | affects cotreatment, increases expression | 2 |
| Benzo(a)pyrene | affects methylation, increases methylation | 2 |
| Tretinoin | increases expression, increases reaction, decreases expression | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, decreases expression | 2 |
| FR900359 | affects phosphorylation | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects methylation | 1 |
| O,O-diethyl O-3,5,6-trichloro-2-pyridyl phosphate | affects response to substance, affects expression | 1 |
| tributyltin | affects localization, decreases reaction | 1 |
| terbufos | increases methylation | 1 |
| sodium arsenite | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| beta-methylcholine | affects expression | 1 |
| perfluorooctane sulfonic acid | affects expression | 1 |
| azoxystrobin | decreases expression | 1 |
| hexabromocyclododecane | decreases expression | 1 |
| 2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one | decreases reaction, affects localization | 1 |
| corosolic acid | increases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
ChEMBL screening assays
2 unique, capped per target: 2 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5318894 | Binding | Inhibition of NCAM1 transcriptional activation in human KMS-11 cells assessed as reduction in NCAM1 mRNA expression at 0.5 uM by qRT-PCR analysis | Structural Modification and Pharmacological Evaluation of Substituted Quinoline-5,8-diones as Potent NSD2 Inhibitors. — J Med Chem |
Cellosaurus cell lines
6 cell lines: 5 cancer cell line, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1Y7 | Abcam HeLa NCAM1 KO | Cancer cell line | Female |
| CVCL_B8L6 | Abcam HCT 116 NCAM1 KO | Cancer cell line | Male |
| CVCL_B8ZC | Abcam MCF-7 NCAM1 KO | Cancer cell line | Female |
| CVCL_B9NC | Abcam A-549 NCAM1 KO | Cancer cell line | Male |
| CVCL_D1TM | Abcam U-87MG NCAM1 KO | Cancer cell line | Male |
| CVCL_D9KZ | Ubigene HEK293 NCAM1 KO | Transformed cell line | Female |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00391261 | PHASE4 | COMPLETED | An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications. |
| NCT01028820 | PHASE4 | COMPLETED | FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders |
| NCT01333865 | PHASE4 | COMPLETED | A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders |
| NCT01337700 | PHASE4 | COMPLETED | Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism |
| NCT01695200 | PHASE4 | COMPLETED | Omega-3 Fatty Acids in Autism Spectrum Disorders |
| NCT02096952 | PHASE4 | COMPLETED | Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD |
| NCT02235467 | PHASE4 | COMPLETED | Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism |
| NCT02940574 | PHASE4 | COMPLETED | Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders |
| NCT03333629 | PHASE4 | COMPLETED | Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes |
| NCT03337646 | PHASE4 | COMPLETED | Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism |
| NCT03538431 | PHASE4 | COMPLETED | Improving Driving in Young People With Autism Spectrum Disorders |
| NCT03757585 | PHASE4 | COMPLETED | Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD) |
| NCT04903353 | PHASE4 | COMPLETED | Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole |
| NCT05063656 | PHASE4 | COMPLETED | Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin |
| NCT05146245 | PHASE4 | UNKNOWN | Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT |
| NCT05916339 | PHASE4 | RECRUITING | AWARE: Management of ADHD in Autism Spectrum Disorder |
| NCT05954052 | PHASE4 | TERMINATED | A Study of Glutathione in Children With Autism Spectrum Disorder |
| NCT06853665 | PHASE4 | RECRUITING | The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine |
| NCT07054697 | PHASE4 | COMPLETED | Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder |
| NCT07161804 | PHASE4 | COMPLETED | Pilot RCT Using Homeopathic Medicines in ASD |
| NCT07439042 | PHASE4 | NOT_YET_RECRUITING | Buspirone for Anxiety in Autistic Youth |
| NCT01302964 | PHASE3 | COMPLETED | Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders |
| NCT01706523 | PHASE3 | TERMINATED | Open Label Extension Study of STX209 (Arbaclofen) in Autism Spectrum Disorders |
| NCT01825798 | PHASE3 | COMPLETED | Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD) |
| NCT01972074 | PHASE3 | COMPLETED | Behavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder |
| NCT02985749 | PHASE3 | COMPLETED | A Study of Oxytocin for the Treatment of Social Impairment in Individuals With High Functioning Autism Spectrum Disorder |
| NCT03197922 | PHASE3 | COMPLETED | Treatment of Encopresis in Children With Autism Spectrum Disorders |
| NCT03504917 | PHASE3 | TERMINATED | A Study of Balovaptan in Adults With Autism Spectrum Disorder With a 2-Year Open-Label Extension |
| NCT03553875 | PHASE3 | TERMINATED | Memantine for the Treatment of Social Deficits in Youth With Disorders of Impaired Social Interactions |
| NCT03640156 | PHASE3 | COMPLETED | Modulating Socially Adaptive Mirror System Functioning in Autism by Oxytocin |
| NCT03715153 | PHASE3 | TERMINATED | Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children Aged From 2 to Less Than 7 Years Old With Autism Spectrum Disorder. |
| NCT03715166 | PHASE3 | TERMINATED | Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children and Adolescents Aged From 7 to Less Than 18 Years Old With Autism Spectrum Disorder |
| NCT04233502 | PHASE3 | WITHDRAWN | Efficacy and Safety of Slenyto for Insomnia in Children With ASD |
| NCT04578756 | PHASE3 | COMPLETED | Open-Label, Flexible-dose Study to Evaluate the Long-Term Safety and Tolerability of Cariprazine in the Treatment of Pediatric Participants With Schizophrenia, Bipolar I Disorder, or Autism Spectrum Disorder |
| NCT04623398 | PHASE3 | COMPLETED | Effect of Lithium in Patients With Autism Spectrum Disorder and Phelan-McDermid Syndrome (SHANK3 Haploinsufficiency) |
| NCT04725383 | PHASE3 | TERMINATED | Amitriptyline for Repetitive Behaviors in Autism Spectrum Disorders |
| NCT05212493 | PHASE3 | COMPLETED | The Effects of Medical Cannabis in Children With Autistic Spectrum Disorder |
| NCT05361707 | PHASE3 | UNKNOWN | Evaluating the Effects of Tasimelteon in Individuals With Autism Spectrum Disorder (ASD) and Sleep Disturbances |
| NCT05439616 | PHASE3 | COMPLETED | Study of Cariprazine Oral Capsules or Solution to Assess Adverse Events and Change in Irritability Due to Autism Spectrum Disorder (ASD) in Participants Aged 5-17 Years With ASD |
| NCT06229210 | PHASE3 | RECRUITING | Safety and Tolerability Trial of Lumateperone in Pediatric Patients With Schizophrenia, Bipolar Disorder or Autism Spectrum Disorder |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): hemorrhoid, irritable bowel syndrome