CNTNAP3
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Also known as CASPR3KIAA1714FLJ14195CNTNAP3A
Summary
CNTNAP3 (contactin associated protein family member 3, HGNC:13834) is a protein-coding gene on chromosome 9p12, encoding Contactin-associated protein-like 3 (Q9BZ76).
The protein encoded by this gene belongs to the NCP family of cell-recognition molecules. This family represents a distinct subgroup of the neurexins. NCP proteins mediate neuron-glial interactions in vertebrates and glial-glial contact in invertebrates. The protein encoded by this gene may play a role in cell recognition within the nervous system. Alternatively spliced transcript variants encoding different isoforms have been described but their biological nature has not been determined.
Source: NCBI Gene 79937 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 230 total
- Phenotypes (HPO): 2
- MANE Select transcript:
NM_033655
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13834 |
| Approved symbol | CNTNAP3 |
| Name | contactin associated protein family member 3 |
| Location | 9p12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CASPR3, KIAA1714, FLJ14195, CNTNAP3A |
| Ensembl gene | ENSG00000106714 |
| Ensembl biotype | protein_coding |
| OMIM | 610517 |
| Entrez | 79937 |
Gene structure
Transcript identifiers
Ensembl transcripts: 24 — 16 protein_coding, 7 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000297668, ENST00000358144, ENST00000377653, ENST00000377656, ENST00000377659, ENST00000443583, ENST00000448573, ENST00000469061, ENST00000477002, ENST00000483502, ENST00000493965, ENST00000495573, ENST00000865307, ENST00000865308, ENST00000865309, ENST00000865310, ENST00000865311, ENST00000865312, ENST00000924961, ENST00000924962, ENST00000941983, ENST00000941984, ENST00000941985, ENST00000941986
RefSeq mRNA: 2 — MANE Select: NM_033655
NM_001393379, NM_033655
CCDS: CCDS6616, CCDS94411
Canonical transcript exons
ENST00000297668 — 24 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001685062 | 39078690 | 39078920 |
| ENSE00001690569 | 39132932 | 39133135 |
| ENSE00001693244 | 39144240 | 39144346 |
| ENSE00001695318 | 39099911 | 39100150 |
| ENSE00001699541 | 39149806 | 39149977 |
| ENSE00001702870 | 39088423 | 39088647 |
| ENSE00001750242 | 39165933 | 39166076 |
| ENSE00001782297 | 39103744 | 39103914 |
| ENSE00001799024 | 39140519 | 39140638 |
| ENSE00001805167 | 39171369 | 39171630 |
| ENSE00001805422 | 39078385 | 39078456 |
| ENSE00001940184 | 39287980 | 39288167 |
| ENSE00003462902 | 39177318 | 39177502 |
| ENSE00003463526 | 39193128 | 39193275 |
| ENSE00003469096 | 39102497 | 39102715 |
| ENSE00003502992 | 39238993 | 39239186 |
| ENSE00003517650 | 39266896 | 39267006 |
| ENSE00003533953 | 39175949 | 39176092 |
| ENSE00003576145 | 39118103 | 39118259 |
| ENSE00003586872 | 39109160 | 39109287 |
| ENSE00003604697 | 39086716 | 39086849 |
| ENSE00003641484 | 39178157 | 39178360 |
| ENSE00003679872 | 39085736 | 39085823 |
| ENSE00003931083 | 39064710 | 39074011 |
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 87.18.
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 87.18 | gold quality |
| mucosa of stomach | UBERON:0001199 | 86.00 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 85.81 | gold quality |
| lower esophagus | UBERON:0013473 | 85.77 | gold quality |
| blood | UBERON:0000178 | 84.35 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 83.32 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 82.01 | gold quality |
| esophagus | UBERON:0001043 | 80.78 | gold quality |
| skin of abdomen | UBERON:0001416 | 79.74 | gold quality |
| zone of skin | UBERON:0000014 | 78.84 | gold quality |
| skin of leg | UBERON:0001511 | 78.14 | gold quality |
| sural nerve | UBERON:0015488 | 77.88 | gold quality |
| corpus callosum | UBERON:0002336 | 77.02 | gold quality |
| right atrium auricular region | UBERON:0006631 | 76.93 | gold quality |
| esophagus mucosa | UBERON:0002469 | 76.09 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 75.64 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 75.51 | gold quality |
| cortical plate | UBERON:0005343 | 75.37 | gold quality |
| colonic epithelium | UBERON:0000397 | 74.49 | gold quality |
| ventricular zone | UBERON:0003053 | 74.41 | gold quality |
| minor salivary gland | UBERON:0001830 | 74.23 | gold quality |
| omental fat pad | UBERON:0010414 | 73.91 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 73.90 | gold quality |
| adipose tissue | UBERON:0001013 | 73.89 | gold quality |
| nucleus accumbens | UBERON:0001882 | 73.86 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 73.54 | gold quality |
| bone marrow | UBERON:0002371 | 73.28 | gold quality |
| heart | UBERON:0000948 | 72.49 | gold quality |
| vagina | UBERON:0000996 | 72.00 | gold quality |
| bone marrow cell | CL:0002092 | 71.93 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.31 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
79 targeting CNTNAP3, 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-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-507 | 99.97 | 70.11 | 1915 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-557 | 99.96 | 70.01 | 1640 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-22-3P | 99.93 | 68.13 | 917 |
| HSA-MIR-8063 | 99.91 | 69.76 | 3146 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-1297 | 99.91 | 73.41 | 3162 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-106A-5P | 99.90 | 73.94 | 2683 |
| HSA-MIR-301A-3P | 99.90 | 73.15 | 1839 |
| HSA-MIR-301B-3P | 99.90 | 73.19 | 1836 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-17-5P | 99.89 | 73.83 | 2665 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-4271 | 99.88 | 68.32 | 2244 |
| HSA-MIR-106B-5P | 99.88 | 74.72 | 2795 |
Literature-anchored findings (GeneRIF, showing 5)
- Loss of 9p13.1-p12 was the novel copy number variant shared by twins with testicular germ cell tumors, confirming the involvement of CNTNAP3. (PMID:25424124)
- CNTNAP3 could upregulate the expression of ATG16L1 and increase autophagy vacuoles (PMID:25883416)
- Considering that CASPR3 is involved in building the brain neural network and autophagy in circulating leukocytes, abnormal CASPR3 expression in SCZ subjects may be associated with the pathogenesis of SCZ. (PMID:28413940)
- there are 5 mutations of CNTNAP3 (G410S, P614A, R786C/H, R1219X) which were reported to be found in autism spectrum disorders patients yet, which caused 4 amino acid changed and one stop-gain de novo mutation (PMID:31150793)
- CircCNTNAP3-TP53-positive feedback loop suppresses malignant progression of esophageal squamous cell carcinoma. (PMID:33239613)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cntnap3 | ENSDARG00000067824 |
| mus_musculus | Cntnap3 | ENSMUSG00000033063 |
| rattus_norvegicus | Cntnap3 | ENSRNOG00000027309 |
Paralogs (35): NRXN3 (ENSG00000021645), TLL1 (ENSG00000038295), CP (ENSG00000047457), DCBLD2 (ENSG00000057019), HEPH (ENSG00000089472), TLL2 (ENSG00000095587), NRP1 (ENSG00000099250), PCOLCE (ENSG00000106333), CUBN (ENSG00000107611), CNTNAP1 (ENSG00000108797), NRXN2 (ENSG00000110076), MEP1A (ENSG00000112818), NRP2 (ENSG00000118257), CUZD1 (ENSG00000138161), MFGE8 (ENSG00000140545), MEP1B (ENSG00000141434), PDGFC (ENSG00000145431), CNTNAP4 (ENSG00000152910), CNTNAP3B (ENSG00000154529), CNTNAP5 (ENSG00000155052), CDCP2 (ENSG00000157211), PCOLCE2 (ENSG00000163710), EDIL3 (ENSG00000164176), NETO1 (ENSG00000166342), BMP1 (ENSG00000168487), PDGFD (ENSG00000170962), NETO2 (ENSG00000171208), CNTNAP2 (ENSG00000174469), NRXN1 (ENSG00000179915), HEPHL1 (ENSG00000181333), F8 (ENSG00000185010), ASTL (ENSG00000188886), F5 (ENSG00000198734), MFRP (ENSG00000235718), CNTNAP3C (ENSG00000283378)
Protein
Protein identifiers
Contactin-associated protein-like 3 — Q9BZ76 (reviewed: Q9BZ76)
Alternative names: Cell recognition molecule Caspr3
All UniProt accessions (5): Q9BZ76, A6NC89, B1AM99, B1AMA2, F2Z2X6
UniProt curated annotations — full annotation on UniProt →
Subcellular location. Cell membrane Secreted.
Similarity. Belongs to the neurexin family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BZ76-1 | 1 | yes |
| Q9BZ76-2 | 2 |
RefSeq proteins (2): NP_001380308, NP_387504* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000421 | FA58C | Domain |
| IPR000742 | EGF | Domain |
| IPR001791 | Laminin_G | Domain |
| IPR002181 | Fibrinogen_a/b/g_C_dom | Domain |
| IPR008979 | Galactose-bd-like_sf | Homologous_superfamily |
| IPR013320 | ConA-like_dom_sf | Homologous_superfamily |
| IPR036056 | Fibrinogen-like_C | Homologous_superfamily |
| IPR050372 | Neurexin-related_CASP | Family |
Pfam: PF00008, PF00754, PF02210
UniProt features (45 total): disulfide bond 11, glycosylation site 9, domain 8, sequence conflict 7, topological domain 2, splice variant 2, sequence variant 2, signal peptide 1, chain 1, region of interest 1, transmembrane region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BZ76-F1 | 83.35 | 0.55 |
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 (11): 31–177, 332–364, 513–545, 551–562, 556–571, 573–583, 931–958, 962–975, 969–984, 986–996, 1167–1203
Glycosylation sites (9): 285, 359, 441, 497, 623, 706, 1023, 1073, 1120
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 60 (showing top):
GSE45365_NK_CELL_VS_BCELL_DN, KOYAMA_SEMA3B_TARGETS_UP, TURASHVILI_BREAST_DUCTAL_CARCINOMA_VS_DUCTAL_NORMAL_DN, HOOI_ST7_TARGETS_DN, BASAKI_YBX1_TARGETS_DN, CTTTGTA_MIR524, chr9p12, BENPORATH_OCT4_TARGETS, GOCC_SYNAPSE, GEORGES_TARGETS_OF_MIR192_AND_MIR215, KOINUMA_TARGETS_OF_SMAD2_OR_SMAD3, GHANDHI_BYSTANDER_IRRADIATION_DN, GSE14699_NAIVE_VS_DELETIONAL_TOLERANCE_CD8_TCELL_UP, GSE14415_NATURAL_TREG_VS_TCONV_UP, HMGA1_TARGET_GENES
GO Biological Process (2): cell adhesion (GO:0007155), cell recognition (GO:0008037)
GO Molecular Function (0):
GO Cellular Component (3): extracellular region (GO:0005576), plasma membrane (GO:0005886), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular process | 2 |
| cellular anatomical structure | 2 |
| membrane | 1 |
| cell periphery | 1 |
Protein interactions and networks
STRING
586 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CNTNAP3 | APBA1 | Q02410 | 707 |
| CNTNAP3 | EPB41 | P11171 | 666 |
| CNTNAP3 | CREB5 | Q02930 | 445 |
| CNTNAP3 | KANK2 | Q63ZY3 | 422 |
| CNTNAP3 | BABAM1 | Q9NWV8 | 418 |
| CNTNAP3 | EGF | P01133 | 401 |
| CNTNAP3 | SORCS2 | Q96PQ0 | 394 |
| CNTNAP3 | SPATA31A1 | Q5TZJ5 | 371 |
| CNTNAP3 | OLAH | Q9NV23 | 365 |
| CNTNAP3 | KIAA1958 | Q8N8K9 | 345 |
| CNTNAP3 | CNTN3 | Q9P232 | 341 |
| CNTNAP3 | FECH | P22830 | 338 |
| CNTNAP3 | NRXN1 | Q9ULB1 | 336 |
| CNTNAP3 | PHF24 | Q9UPV7 | 328 |
| CNTNAP3 | CCER1 | Q8TC90 | 326 |
IntAct
122 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| HLA-DRA | HLA-DRB1 | psi-mi:“MI:0914”(association) | 0.880 |
| MGAT4C | GXYLT2 | psi-mi:“MI:0914”(association) | 0.530 |
| SCGB1D1 | FAM234B | psi-mi:“MI:0914”(association) | 0.530 |
| CELA3A | POTEF | psi-mi:“MI:0914”(association) | 0.530 |
| ANTXR1 | POTEF | psi-mi:“MI:0914”(association) | 0.530 |
| DEFA1 | MANBA | psi-mi:“MI:0914”(association) | 0.530 |
| OS9 | AGRN | psi-mi:“MI:0914”(association) | 0.530 |
| GPHA2 | PLXNA2 | psi-mi:“MI:0914”(association) | 0.530 |
| SCGB1D4 | EGFR | psi-mi:“MI:0914”(association) | 0.530 |
| ERLEC1 | ATF6 | psi-mi:“MI:0914”(association) | 0.530 |
| CRISP2 | TUBA4A | psi-mi:“MI:0914”(association) | 0.530 |
| FBXO2 | TMEM131L | psi-mi:“MI:0914”(association) | 0.530 |
| CRP | QSOX1 | psi-mi:“MI:0914”(association) | 0.530 |
| INSL5 | COCH | psi-mi:“MI:0914”(association) | 0.530 |
| C1orf54 | EXTL3 | psi-mi:“MI:0914”(association) | 0.530 |
| SCGB2A2 | GXYLT2 | psi-mi:“MI:0914”(association) | 0.350 |
| CLEC2D | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
| BTNL8 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| TSHB | SMCHD1 | psi-mi:“MI:0914”(association) | 0.350 |
| SUSD4 | CCDC85C | psi-mi:“MI:0914”(association) | 0.350 |
| HLA-E | RTL8C | psi-mi:“MI:0914”(association) | 0.350 |
| NRG1 | HS6ST1 | psi-mi:“MI:0914”(association) | 0.350 |
| PTPRK | MANBA | psi-mi:“MI:0914”(association) | 0.350 |
| TAZ | MANBA | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (160): CNTNAP3 (Affinity Capture-MS), CNTNAP3 (Affinity Capture-MS), CNTNAP3 (Affinity Capture-MS), CNTNAP3 (Affinity Capture-MS), CNTNAP3 (Affinity Capture-MS), CNTNAP3 (Affinity Capture-MS), CNTNAP3 (Affinity Capture-MS), CNTNAP3 (Affinity Capture-MS), CNTNAP3 (Affinity Capture-MS), CNTNAP3 (Affinity Capture-MS), CNTNAP3 (Affinity Capture-MS), CNTNAP3 (Affinity Capture-MS), CNTNAP3 (Affinity Capture-MS), CNTNAP3 (Affinity Capture-MS), CNTNAP3 (Affinity Capture-MS)
ESM2 similar proteins: A1XQX0, A1XQX2, A1XQX8, A1XQY1, A3KN33, B4F785, B8UU78, D0PRN3, E9Q7X7, P12080, P29319, P29320, P54764, Q02763, Q02858, Q03137, Q06807, Q07310, Q07496, Q0V8S9, Q0V8T0, Q0V8T3, Q0V8T4, Q0V8T5, Q0V8T6, Q0V8T7, Q0V8T8, Q0V8T9, Q19617, Q28146, Q3KN41, Q4VBE4, Q5RD64, Q63372, Q63374, Q63HQ2, Q6P9K9, Q8QFX6, Q8WYK1, Q91694
Diamond homologs: A2RUV9, A5A6K7, O14786, O17754, O18806, O35276, O35375, O35474, O43854, O54858, O54991, O60462, O75976, O88783, O89001, P00451, P02886, P02887, P02888, P04836, P12259, P12263, P14384, P15087, P15169, P16870, P21956, P28824, P29068, P37892, P39041, P42787, P70490, P78357, P79385, P79795, P83852, P97333, P97846, P98092
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 137 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 |
|---|---|---|---|
| Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell | 8 | 8.4× | 2e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| ERAD pathway | 8 | 12.1× | 3e-04 |
| homophilic cell-cell adhesion | 6 | 7.0× | 8e-03 |
| adaptive immune response | 9 | 6.3× | 3e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
230 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 196 |
| Likely benign | 17 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
5572 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:39078386:T:TA | donor_gain | 1.0000 |
| 9:39078453:CGAC:C | acceptor_gain | 1.0000 |
| 9:39078456:CCT:C | acceptor_loss | 1.0000 |
| 9:39078457:C:CC | acceptor_gain | 1.0000 |
| 9:39078457:CTA:C | acceptor_loss | 1.0000 |
| 9:39088474:A:AC | donor_gain | 1.0000 |
| 9:39088475:C:CC | donor_gain | 1.0000 |
| 9:39088475:CAG:C | donor_gain | 1.0000 |
| 9:39099906:CTTA:C | donor_loss | 1.0000 |
| 9:39099907:TTA:T | donor_loss | 1.0000 |
| 9:39099908:T:TG | donor_loss | 1.0000 |
| 9:39099909:A:AT | donor_loss | 1.0000 |
| 9:39100163:CA:C | acceptor_gain | 1.0000 |
| 9:39109158:A:AC | donor_gain | 1.0000 |
| 9:39109159:C:CC | donor_gain | 1.0000 |
| 9:39109159:CG:C | donor_gain | 1.0000 |
| 9:39109159:CGAT:C | donor_gain | 1.0000 |
| 9:39109285:GTCCT:G | acceptor_gain | 1.0000 |
| 9:39132926:GCTTA:G | donor_loss | 1.0000 |
| 9:39132927:CTTA:C | donor_loss | 1.0000 |
| 9:39132928:TTA:T | donor_loss | 1.0000 |
| 9:39132929:TACCT:T | donor_loss | 1.0000 |
| 9:39132930:A:AC | donor_gain | 1.0000 |
| 9:39132930:A:AG | donor_loss | 1.0000 |
| 9:39132930:AC:A | donor_gain | 1.0000 |
| 9:39132930:ACCT:A | donor_gain | 1.0000 |
| 9:39132931:C:CC | donor_gain | 1.0000 |
| 9:39132931:C:CG | donor_loss | 1.0000 |
| 9:39132931:CC:C | donor_gain | 1.0000 |
| 9:39132931:CCT:C | donor_gain | 1.0000 |
AlphaMissense
8356 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:39239100:C:G | A95P | 0.998 |
| 9:39102624:C:A | W876C | 0.997 |
| 9:39102624:C:G | W876C | 0.997 |
| 9:39239175:A:G | W70R | 0.997 |
| 9:39239175:A:T | W70R | 0.997 |
| 9:39193154:C:G | R171P | 0.996 |
| 9:39239173:C:A | W70C | 0.996 |
| 9:39239173:C:G | W70C | 0.996 |
| 9:39239023:C:A | W120C | 0.995 |
| 9:39239023:C:G | W120C | 0.995 |
| 9:39239102:A:T | V94D | 0.995 |
| 9:39100122:A:C | F928L | 0.994 |
| 9:39100122:A:T | F928L | 0.994 |
| 9:39100124:A:G | F928L | 0.994 |
| 9:39102626:A:G | W876R | 0.994 |
| 9:39102626:A:T | W876R | 0.994 |
| 9:39166051:C:A | W453C | 0.994 |
| 9:39166051:C:G | W453C | 0.994 |
| 9:39171506:C:G | R399P | 0.994 |
| 9:39193261:G:C | N135K | 0.994 |
| 9:39193261:G:T | N135K | 0.994 |
| 9:39239141:A:G | L81P | 0.994 |
| 9:39100123:A:C | F928C | 0.993 |
| 9:39100123:A:G | F928S | 0.993 |
| 9:39193199:C:G | R156P | 0.993 |
| 9:39239093:T:G | Q97P | 0.993 |
| 9:39102623:G:C | H877D | 0.992 |
| 9:39140530:C:G | C622S | 0.992 |
| 9:39140531:A:T | C622S | 0.992 |
| 9:39166053:A:G | W453R | 0.992 |
dbSNP variants (sampled 300 via entrez): RS1000013950 (9:39119721 A>C), RS1000024135 (9:39094696 T>A,C), RS1000104938 (9:61406631 C>G), RS1000140106 (9:61344373 C>A,T), RS1000184691 (9:61375628 G>A), RS1000197776 (9:39135147 A>G), RS1000230703 (9:39139280 T>C), RS1000278007 (9:39225334 C>T), RS1000283176 (9:39139002 C>G,T), RS1000288549 (9:39110325 G>T), RS1000342225 (9:61370671 TC>T,TCC), RS1000356365 (9:61416084 T>G), RS1000390526 (9:39145049 T>C,G), RS1000399427 (9:39110155 G>C), RS1000427869 (9:39226115 C>A)
Disease associations
OMIM: gene MIM:610517 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): glioblastoma (MONDO:0018177)
Orphanet (1): Glioblastoma (Orphanet:360)
HPO phenotypes
2 total (2 of 2 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0012174 | Glioblastoma multiforme |
| HP:0100843 |
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST007740_21 | Iris color (a* coordinate) | 1.000000e-06 |
| GCST012308_1 | Schizophrenia | 6.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009764 | eye colour measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D005909 | Glioblastoma | C04.557.465.625.600.380.080.335; C04.557.470.670.380.080.335; C04.557.580.625.600.380.080.335 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
32 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, increases expression | 6 |
| trichostatin A | affects cotreatment, decreases expression | 3 |
| mercuric bromide | decreases expression, affects cotreatment | 2 |
| Estradiol | affects cotreatment, decreases expression, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression, increases expression | 2 |
| p-Chloromercuribenzoic Acid | decreases expression, affects cotreatment | 2 |
| ethylbenzene | affects cotreatment, decreases expression, increases methylation | 1 |
| methylmercuric chloride | decreases expression | 1 |
| ethyl-p-hydroxybenzoate | decreases expression | 1 |
| sulforaphane | decreases expression | 1 |
| sodium arsenite | affects cotreatment, decreases expression, increases abundance | 1 |
| butyraldehyde | decreases expression | 1 |
| manganese chloride | decreases expression, increases abundance, affects cotreatment | 1 |
| nickel sulfate | increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | decreases expression | 1 |
| pentanal | decreases expression | 1 |
| picene | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression, increases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression, increases expression | 1 |
| Arsenic | affects cotreatment, decreases expression, increases abundance | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Manganese | decreases expression, increases abundance, affects cotreatment | 1 |
| Progesterone | affects cotreatment, decreases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Toluene | affects cotreatment, decreases expression, increases methylation | 1 |
| Triclosan | increases expression | 1 |
| Xylenes | affects cotreatment, decreases expression, increases methylation | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00686725 | PHASE4 | COMPLETED | Standard Temodal (Temozolomide) Regimen Versus Standard Regimen Plus Early Postsurgery Temodal for Newly Diagnosed Glioblastoma Multiforme (Study P05572) |
| NCT01756729 | PHASE4 | TERMINATED | Post-approval Study of NovoTTF-100A in Recurrent GBM Patients |
| NCT03975829 | PHASE4 | RECRUITING | Pediatric Long-Term Follow-up and Rollover Study |
| NCT05342883 | PHASE4 | ACTIVE_NOT_RECRUITING | GammaTile and Stupp in Newly Diagnosed GBM |
| NCT05900908 | PHASE4 | WITHDRAWN | Post-operative Adjuvant Therapy w/wo GammaTile + Systemic Therapy |
| NCT06625047 | PHASE4 | COMPLETED | Comparing Telehealth and In-person Assessments in Glioma Patients Receiving Oral Chemotherapy |
| NCT07546669 | PHASE4 | NOT_YET_RECRUITING | Efficacy of Zoster Vaccination in Glioblastoma Patients |
| NCT00045968 | PHASE3 | UNKNOWN | Study of a Drug [DCVax®-L] to Treat Newly Diagnosed GBM Brain Cancer |
| NCT00068952 | PHASE3 | COMPLETED | Study of IV Edotecarin Vs Temozolomide or Carmustine (BCNU) or Lomustine (CCNU) in Patients With Glioblastoma Multiforme |
| NCT00076986 | PHASE3 | COMPLETED | The PRECISE Trial: Study of IL13-PE38QQR Compared to GLIADEL Wafer in Patients With Recurrent Glioblastoma Multiforme |
| NCT00083447 | PHASE3 | WITHDRAWN | Study of Therapy With TransMID™ Compared to Best Standard of Care in Patients With Glioblastoma Multiforme |
| NCT00088400 | PHASE3 | COMPLETED | Comparison of TransMID vs Standard Treatment of Cancerous Brain Tumors |
| NCT00154375 | PHASE3 | COMPLETED | Study of Imatinib Mesylate in Combination With Hydroxyurea Versus Hydroxyurea Alone as an Oral Therapy in Patients With Temozolomide Resistant Progressive Glioblastoma |
| NCT00224978 | PHASE3 | COMPLETED | Chloroquine for Treatment of Glioblastoma Multiforme |
| NCT00295815 | PHASE3 | COMPLETED | Enzastaurin Versus Lomustine in Glioblastoma |
| NCT00335075 | PHASE3 | COMPLETED | Efficacy and Safety of Temodal vs Semustine in Subjects With Recurrent Glioblastoma or Anaplastic Astrocytoma (Study P03644) |
| NCT00379470 | PHASE3 | COMPLETED | Effect of NovoTTF-100A in Recurrent Glioblastoma Multiforme (GBM) |
| NCT00430911 | PHASE3 | COMPLETED | Radiotherapy for Malignant Astrocytomas in the Elderly |
| NCT00615186 | PHASE3 | TERMINATED | Glioblastoma Multiforme (GBM) Locoregional Agent Survival Study - Anti-tenascin Radiolabeled Antibody Therapy |
| NCT00689221 | PHASE3 | COMPLETED | Cilengitide, Temozolomide, and Radiation Therapy in Treating Patients With Newly Diagnosed Glioblastoma and Methylated Gene Promoter Status |
| NCT00761280 | PHASE3 | TERMINATED | Efficacy and Safety of AP 12009 in Patients With Recurrent or Refractory Anaplastic Astrocytoma or Secondary Glioblastoma |
| NCT00777153 | PHASE3 | COMPLETED | Cediranib in Combination With Lomustine Chemotherapy in Recurrent Glioblastoma |
| NCT00807027 | PHASE3 | COMPLETED | Clinical Trial to Assess the Efficacy and Safety of ‘Immuncell-LC’ With Temozolomide in Newly Diagnosed Glioblastoma of Korea |
| NCT00884741 | PHASE3 | COMPLETED | Temozolomide and Radiation Therapy With or Without Bevacizumab in Treating Patients With Newly Diagnosed Glioblastoma |
| NCT00916409 | PHASE3 | COMPLETED | Effect of NovoTTF-100A Together With Temozolomide in Newly Diagnosed Glioblastoma Multiforme (GBM) |
| NCT00943826 | PHASE3 | COMPLETED | A Study of Bevacizumab (Avastin®) in Combination With Temozolomide and Radiotherapy in Participants With Newly Diagnosed Glioblastoma |
| NCT01149109 | PHASE3 | COMPLETED | Efficacy and Safety Study of Lomustine/Temozolomide Combination Therapy vs. Standard Therapy for Glioblastoma Patients |
| NCT01290939 | PHASE3 | COMPLETED | Bevacizumab and Lomustine for Recurrent GBM |
| NCT01364064 | PHASE3 | COMPLETED | Conventional Adjuvant Temozolomide With Dose Intensive Temozolomide in Patients With Newly Diagnosed Glioblastoma |
| NCT01450449 | PHASE3 | COMPLETED | Short Course vs. Standard Course Radiotherapy in Elderly and/or Frail Patients With Glioblastoma Multiforme |
| NCT01480479 | PHASE3 | COMPLETED | Phase III Study of Rindopepimut/GM-CSF in Patients With Newly Diagnosed Glioblastoma |
| NCT01502241 | PHASE3 | COMPLETED | Phase III Trial of Primary Radio- or Chemotherapy in Malignant Astrocytoma of the Elderly |
| NCT01507506 | PHASE3 | TERMINATED | Phase III Study Comparing 2 Brain Conformational Radiotherapy in Combination With Chemotherapy in the Treatment of Glioblastoma |
| NCT01656980 | PHASE3 | UNKNOWN | Safety and Efficacy Study of Intracranially Implanted Carmustine to Treat Newly Diagnosed Malignant Glioma |
| NCT01765088 | PHASE3 | UNKNOWN | A Phase III Trial on Adjuvant Temozolomide With or Without Interferon-alpha in Newly Diagnosed High-grade Gliomas |
| NCT01811121 | PHASE3 | COMPLETED | MEDICO-ECONOMIC EVALUATION OF SURGERY GUIDED BY FLUORESCENCE FOR THE OPTIMIZATION OF RESECTION OF GLIOBLASTOMAS |
| NCT01830101 | PHASE3 | WITHDRAWN | A Phase III Study of Re-Irradiation in Recurrent Glioblastoma |
| NCT02017717 | PHASE3 | COMPLETED | A Study of the Effectiveness and Safety of Nivolumab Compared to Bevacizumab and of Nivolumab With or Without Ipilimumab in Glioblastoma Patients |
| NCT02511405 | PHASE3 | COMPLETED | A Phase 3, Pivotal Trial of VB-111 Plus Bevacizumab vs. Bevacizumab in Patients With Recurrent Glioblastoma (GLOBE) |
| NCT02546102 | PHASE3 | SUSPENDED | Phase 3 Randomized, Double-blind, Controlled Study of ICT-107 in Glioblastoma |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): glioblastoma