LINS1
geneOn this page
Also known as WINS1
Summary
LINS1 (lines homolog 1, HGNC:30922) is a protein-coding gene on chromosome 15q26.3, encoding Protein Lines homolog 1 (Q8NG48).
The Drosophila segment polarity gene lin encodes a protein, lines, which plays important roles in development of the epidermis and hindgut. This gene encodes a protein containing a lines-like domain. This gene is located on chromosome 15 and clustered with the gene encoding ankyrin repeat and SOCS box-containing protein 7. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 55180 — RefSeq curated summary.
At a glance
- Gene–disease (curated): complex neurodevelopmental disorder (Definitive, ClinGen) — +2 more curated relationships
- Clinical variants (ClinVar): 207 total — 10 pathogenic, 21 likely-pathogenic
- Phenotypes (HPO): 13
- Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
- MANE Select transcript:
NM_001040616
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30922 |
| Approved symbol | LINS1 |
| Name | lines homolog 1 |
| Location | 15q26.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | WINS1 |
| Ensembl gene | ENSG00000140471 |
| Ensembl biotype | protein_coding |
| OMIM | 610350 |
| Entrez | 55180 |
Gene structure
Transcript identifiers
Ensembl transcripts: 19 — 13 protein_coding, 4 protein_coding_CDS_not_defined, 1 retained_intron, 1 nonsense_mediated_decay
ENST00000314742, ENST00000559149, ENST00000559169, ENST00000559577, ENST00000559736, ENST00000559827, ENST00000560133, ENST00000560272, ENST00000560783, ENST00000560934, ENST00000560941, ENST00000561073, ENST00000561233, ENST00000561308, ENST00000869606, ENST00000869607, ENST00000869608, ENST00000869609, ENST00000916779
RefSeq mRNA: 3 — MANE Select: NM_001040616
NM_001040616, NM_001352507, NM_001352508
CCDS: CCDS10385
Canonical transcript exons
ENST00000314742 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001253060 | 100571894 | 100572065 |
| ENSE00001920547 | 100566924 | 100570117 |
| ENSE00002570712 | 100602121 | 100602184 |
| ENSE00003519819 | 100580263 | 100580352 |
| ENSE00003585829 | 100573651 | 100574241 |
| ENSE00003592200 | 100580444 | 100580945 |
| ENSE00003652948 | 100574987 | 100575128 |
Expression profiles
Bgee: expression breadth ubiquitous, 258 present calls, max score 91.23.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.5002 / max 163.4645, expressed in 1726 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 151797 | 9.3349 | 1713 |
| 151798 | 0.8959 | 573 |
| 207672 | 0.1426 | 34 |
| 151795 | 0.1268 | 51 |
Top tissues by expression
285 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| epithelium of nasopharynx | UBERON:0001951 | 91.23 | gold quality |
| nasopharynx | UBERON:0001728 | 91.22 | gold quality |
| gingival epithelium | UBERON:0001949 | 89.15 | gold quality |
| granulocyte | CL:0000094 | 87.45 | gold quality |
| blood | UBERON:0000178 | 86.67 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 86.65 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 86.64 | gold quality |
| tonsil | UBERON:0002372 | 86.45 | gold quality |
| lymph node | UBERON:0000029 | 86.37 | gold quality |
| gingiva | UBERON:0001828 | 86.03 | gold quality |
| rectum | UBERON:0001052 | 86.01 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 85.95 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 85.93 | gold quality |
| adrenal tissue | UBERON:0018303 | 85.59 | gold quality |
| monocyte | CL:0000576 | 85.21 | gold quality |
| leukocyte | CL:0000738 | 85.20 | gold quality |
| sural nerve | UBERON:0015488 | 85.14 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 85.12 | gold quality |
| calcaneal tendon | UBERON:0003701 | 85.10 | gold quality |
| esophagus mucosa | UBERON:0002469 | 85.08 | gold quality |
| mononuclear cell | CL:0000842 | 85.05 | gold quality |
| skin of abdomen | UBERON:0001416 | 84.55 | gold quality |
| parietal pleura | UBERON:0002400 | 84.25 | gold quality |
| visceral pleura | UBERON:0002401 | 84.17 | gold quality |
| spleen | UBERON:0002106 | 84.06 | gold quality |
| cardia of stomach | UBERON:0001162 | 83.98 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 83.87 | gold quality |
| transverse colon | UBERON:0001157 | 83.87 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 83.86 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 83.83 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 5.04 |
Regulation
Is transcription factor: no
Functional genomics
ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map
Literature-anchored findings (GeneRIF, showing 4)
- Human WINS1 encoded 757 AA protein. Human WINS1 mRNA was expressed in adult testis, prostate, spleen, thymus, skeletal muscle, fetal kidney & brain. This is the first report on molecular cloning & initial characterization of human WINS1. (PMID:12119551)
- Study confirms that LINS, a modulator of the WNT pathway, is an indispensable gene to human cognition and this finding sheds further light on the importance of WNT signaling in human brain development and/or function. (PMID:23773660)
- A novel pathogenic variant of the LINS1 gene has been identified in a child with idiopathic mental retardation (PMID:31922598)
- Identification of a novel nonsense homozygous mutation of LINS1 gene in two sisters with intellectual disability, schizophrenia, and anxiety. (PMID:34450347)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | lins1 | ENSDARG00000086879 |
| mus_musculus | Lins1 | ENSMUSG00000053091 |
| rattus_norvegicus | Lins1 | ENSRNOG00000042776 |
| drosophila_melanogaster | lin | FBGN0002552 |
Protein
Protein identifiers
Protein Lines homolog 1 — Q8NG48 (reviewed: Q8NG48)
Alternative names: Wnt-signaling molecule Lines homolog 1
All UniProt accessions (8): Q8NG48, H0YKU3, H0YM78, H0YMK4, H0YMQ0, H3BNM9, H3BNS6, S4R3B7
UniProt curated annotations — full annotation on UniProt →
Tissue specificity. Expressed in adult testis, prostate, prostate, spleen, thymus, skeletal muscle, fetal kidney and brain.
Disease relevance. Intellectual developmental disorder, autosomal recessive 27 (MRT27) [MIM:614340] A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. The disease is caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the protein lines family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8NG48-1 | 1 | yes |
| Q8NG48-2 | 2 | |
| Q8NG48-3 | 3 |
RefSeq proteins (3): NP_001035706, NP_001339436, NP_001339437 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR024875 | Protein_Lines | Family |
| IPR029415 | Lines_C | Domain |
| IPR032794 | LINES_N | Domain |
Pfam: PF14694, PF14695
UniProt features (14 total): sequence variant 8, splice variant 4, chain 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8NG48-F1 | 72.44 | 0.40 |
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 (1): 635
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 124 (showing top):
GOBP_COGNITION, PAX4_01, NKX25_02, SP3_Q3, RACCACAR_AML_Q6, FOXO1_01, GGGTGGRR_PAX4_03, SP1_Q2_01, COUP_01, KYNG_DNA_DAMAGE_BY_GAMMA_RADIATION, ZIC1_01, NIKOLSKY_BREAST_CANCER_15Q26_AMPLICON, HNF4_01, ATGCTGG_MIR338, CYTAGCAAY_UNKNOWN
GO Biological Process (1): cognition (GO:0050890)
GO Molecular Function (0):
GO Cellular Component (0):
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| nervous system process | 1 |
Protein interactions and networks
STRING
354 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LINS1 | MT-CO1 | P00395 | 597 |
| LINS1 | POLR2B | P30876 | 572 |
| LINS1 | PFAS | O15067 | 542 |
| LINS1 | MT-CYB | P00156 | 447 |
| LINS1 | ADGB | Q8N7X0 | 424 |
| LINS1 | MT-ND5 | P03915 | 419 |
| LINS1 | REEP5 | Q00765 | 418 |
| LINS1 | INS | P01308 | 405 |
| LINS1 | MT-ND1 | P03886 | 400 |
| LINS1 | MT-ND4L | P03901 | 400 |
| LINS1 | MT-ATP6 | P00846 | 395 |
| LINS1 | MT-ND6 | P03923 | 394 |
| LINS1 | P0DN79 | P0DN79 | 390 |
| LINS1 | H7C2H4 | H7C2H4 | 379 |
| LINS1 | MT-ND3 | P03897 | 379 |
IntAct
8 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PRPF19 | AQR | psi-mi:“MI:0914”(association) | 0.790 |
| PRPF19 | PLRG1 | psi-mi:“MI:0914”(association) | 0.770 |
| PLRG1 | AQR | psi-mi:“MI:0914”(association) | 0.530 |
| NAP1L1 | psi-mi:“MI:0914”(association) | 0.350 | |
| PLRG1 | AQR | psi-mi:“MI:0914”(association) | 0.350 |
| BCAS2 | INPPL1 | psi-mi:“MI:0914”(association) | 0.350 |
| BCAS2 | EPB41L2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (11): LINS (Biochemical Activity), LINS (Affinity Capture-MS), LINS (Affinity Capture-RNA), LINS (Positive Genetic), LINS (Negative Genetic), LINS (Affinity Capture-MS), LINS (Affinity Capture-MS), LINS (Affinity Capture-MS), LINS (Affinity Capture-MS), LINS (Affinity Capture-RNA), LINS (Affinity Capture-RNA)
ESM2 similar proteins: A2RRP1, A4D1B5, E1BGH8, O43149, O88480, P53995, Q12769, Q13129, Q13315, Q3MHH2, Q3TCV3, Q3TUL7, Q3UHA3, Q3UPC7, Q3URV1, Q402B2, Q4R7B1, Q4R9E9, Q5H9S7, Q5RB52, Q5SSH7, Q5ZL79, Q5ZLS8, Q62388, Q63517, Q6P2C0, Q6TNU3, Q86VV8, Q8BJW5, Q8CE72, Q8IV33, Q8K1K4, Q8K2A7, Q8NB91, Q8NG48, Q8R4Y8, Q8TEL6, Q91VB4, Q920I9, Q92674
Diamond homologs: Q3U1D0, Q8NG48
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
207 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 10 |
| Likely pathogenic | 21 |
| Uncertain significance | 77 |
| Likely benign | 36 |
| Benign | 37 |
Top pathogenic / likely-pathogenic (30)
| Variant ID | HGVS | Classification |
|---|---|---|
| 120182 | NM_001040616.3(LINS1):c.985_988del (p.His328_His329insTer) | Pathogenic |
| 120183 | NM_001040616.3(LINS1):c.1219_1222+1del | Pathogenic |
| 2581772 | NM_001040616.3(LINS1):c.274C>T (p.Gln92Ter) | Pathogenic |
| 3338206 | NM_001040616.3(LINS1):c.1116del (p.Glu372fs) | Pathogenic |
| 3391492 | NM_001040616.3(LINS1):c.1672_1679del (p.Gly558fs) | Pathogenic |
| 3771635 | NM_001040616.3(LINS1):c.982_985del (p.His328fs) | Pathogenic |
| 429992 | NM_001040616.3(LINS1):c.1096G>T (p.Glu366Ter) | Pathogenic |
| 4537023 | NM_001040616.3(LINS1):c.1460del (p.Asn487fs) | Pathogenic |
| 800811 | NM_001040616.3(LINS1):c.717C>A (p.Cys239Ter) | Pathogenic |
| 817855 | NM_001040616.3(LINS1):c.809del (p.Phe270fs) | Pathogenic |
| 1214928 | NM_001040616.3(LINS1):c.1276C>T (p.Gln426Ter) | Likely pathogenic |
| 1333602 | NM_001040616.3(LINS1):c.1424_1425del (p.Gln475fs) | Likely pathogenic |
| 1679222 | NM_001040616.3(LINS1):c.1432G>T (p.Glu478Ter) | Likely pathogenic |
| 1684037 | NM_001040616.3(LINS1):c.1727_1736del (p.Arg576fs) | Likely pathogenic |
| 1800367 | NM_001040616.3(LINS1):c.1754_1755del (p.Asp585fs) | Likely pathogenic |
| 225032 | NM_001040616.3(LINS1):c.1394+1G>T | Likely pathogenic |
| 2431402 | NM_001040616.3(LINS1):c.1921_1923delinsAC (p.Glu641fs) | Likely pathogenic |
| 2441184 | NM_001040616.3(LINS1):c.1222+2T>C | Likely pathogenic |
| 2682503 | NM_001040616.3(LINS1):c.631+1G>A | Likely pathogenic |
| 2683927 | NM_001040616.3(LINS1):c.1605G>A (p.Trp535Ter) | Likely pathogenic |
| 3065021 | NM_001040616.3(LINS1):c.2185A>T (p.Lys729Ter) | Likely pathogenic |
| 3257737 | NM_001040616.3(LINS1):c.2134del (p.Arg711_Ile712insTer) | Likely pathogenic |
| 374936 | NM_001040616.3(LINS1):c.937G>A (p.Glu313Lys) | Likely pathogenic |
| 3911790 | NM_001040616.3(LINS1):c.1557_1558insG (p.Phe520fs) | Likely pathogenic |
| 3911791 | NM_001040616.3(LINS1):c.1147dup (p.Arg383fs) | Likely pathogenic |
| 4526452 | NM_001040616.3(LINS1):c.497T>G (p.Leu166Ter) | Likely pathogenic |
| 504353 | NM_001040616.3(LINS1):c.244_248del (p.Met82fs) | Likely pathogenic |
| 978100 | NM_001040616.3(LINS1):c.490-1G>C | Likely pathogenic |
| 982564 | NM_001040616.3(LINS1):c.597del (p.Glu200fs) | Likely pathogenic |
| 982565 | NM_001040616.3(LINS1):c.557_558del (p.Lys186fs) | Likely pathogenic |
SpliceAI
1701 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 15:100570114:TCCT:T | acceptor_gain | 1.0000 |
| 15:100570115:CCTC:C | acceptor_gain | 1.0000 |
| 15:100570116:CT:C | acceptor_gain | 1.0000 |
| 15:100570118:C:CC | acceptor_gain | 1.0000 |
| 15:100574239:TTT:T | acceptor_gain | 1.0000 |
| 15:100580488:CATCT:C | donor_gain | 1.0000 |
| 15:100603044:CAGG:C | donor_loss | 1.0000 |
| 15:100603045:AGGT:A | donor_loss | 1.0000 |
| 15:100603047:GTAA:G | donor_loss | 1.0000 |
| 15:100603210:TCTA:T | acceptor_loss | 1.0000 |
| 15:100603211:CTAG:C | acceptor_loss | 1.0000 |
| 15:100603212:TAG:T | acceptor_loss | 1.0000 |
| 15:100603213:A:AG | acceptor_gain | 1.0000 |
| 15:100603213:AG:A | acceptor_gain | 1.0000 |
| 15:100603214:G:GA | acceptor_gain | 1.0000 |
| 15:100603214:GG:G | acceptor_gain | 1.0000 |
| 15:100603214:GGT:G | acceptor_gain | 1.0000 |
| 15:100603214:GGTT:G | acceptor_gain | 1.0000 |
| 15:100603214:GGTTT:G | acceptor_gain | 1.0000 |
| 15:100570118:C:T | acceptor_loss | 0.9900 |
| 15:100571992:G:C | acceptor_gain | 0.9900 |
| 15:100571992:G:GC | acceptor_gain | 0.9900 |
| 15:100573075:A:C | donor_gain | 0.9900 |
| 15:100573135:C:CA | donor_gain | 0.9900 |
| 15:100574241:TC:T | acceptor_loss | 0.9900 |
| 15:100574242:C:CC | acceptor_gain | 0.9900 |
| 15:100574242:CTGC:C | acceptor_loss | 0.9900 |
| 15:100574243:T:A | acceptor_loss | 0.9900 |
| 15:100574981:CCATA:C | donor_loss | 0.9900 |
| 15:100574982:CATA:C | donor_loss | 0.9900 |
AlphaMissense
5029 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 15:100573715:G:C | S386R | 0.992 |
| 15:100573715:G:T | S386R | 0.992 |
| 15:100573717:T:G | S386R | 0.992 |
| 15:100569356:A:G | L719P | 0.990 |
| 15:100571962:G:C | F442L | 0.988 |
| 15:100571962:G:T | F442L | 0.988 |
| 15:100571964:A:G | F442L | 0.988 |
| 15:100569335:A:G | L726S | 0.986 |
| 15:100569316:G:C | F732L | 0.983 |
| 15:100569316:G:T | F732L | 0.983 |
| 15:100569318:A:G | F732L | 0.983 |
| 15:100569962:T:A | E517V | 0.983 |
| 15:100569974:A:G | L513S | 0.983 |
| 15:100569979:G:C | D511E | 0.983 |
| 15:100569979:G:T | D511E | 0.983 |
| 15:100569980:T:A | D511V | 0.983 |
| 15:100571951:T:G | D446A | 0.983 |
| 15:100571952:C:G | D446H | 0.983 |
| 15:100569317:A:G | F732S | 0.982 |
| 15:100569980:T:G | D511A | 0.981 |
| 15:100571951:T:A | D446V | 0.980 |
| 15:100573961:T:A | K304N | 0.980 |
| 15:100573961:T:G | K304N | 0.980 |
| 15:100573962:T:A | K304I | 0.980 |
| 15:100571979:A:G | W437R | 0.979 |
| 15:100571979:A:T | W437R | 0.979 |
| 15:100569317:A:C | F732C | 0.978 |
| 15:100569974:A:C | L513W | 0.978 |
| 15:100569981:C:G | D511H | 0.977 |
| 15:100571934:C:G | A452P | 0.977 |
dbSNP variants (sampled 300 via entrez): RS1000000927 (15:100567755 C>A,T), RS1000004534 (15:100592192 C>A), RS1000350712 (15:100576941 T>C,G), RS1000444408 (15:100587339 G>A,C), RS1000600097 (15:100581883 T>G), RS1000628508 (15:100571512 G>C), RS1000784885 (15:100587849 T>G), RS1000797709 (15:100573504 T>G), RS1000878111 (15:100585764 A>C), RS1001066653 (15:100591576 A>C), RS1001137906 (15:100597660 T>C), RS1001181455 (15:100586050 C>T), RS1001199105 (15:100583607 T>A), RS1001251430 (15:100583998 A>G), RS1001363831 (15:100578003 T>C)
Disease associations
OMIM: gene MIM:610350 | disease phenotypes: MIM:614340, MIM:209850
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| intellectual disability, autosomal recessive 27 | Strong | Autosomal recessive |
| autosomal recessive non-syndromic intellectual disability | Supportive | Autosomal recessive |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| complex neurodevelopmental disorder | Definitive | AR |
Mondo (5): intellectual disability, autosomal recessive 27 (MONDO:0013702), intellectual disability (MONDO:0001071), autism (MONDO:0005260), microcephaly (MONDO:0001149), autosomal recessive non-syndromic intellectual disability (MONDO:0019502)
Orphanet (2): Autosomal recessive non-syndromic intellectual disability (Orphanet:88616), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)
HPO phenotypes
13 total (14 of 13 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000252 | Microcephaly |
| HP:0000718 | Aggressive behavior |
| HP:0001249 | Intellectual disability |
| HP:0001252 | Hypotonia |
| HP:0001263 | Global developmental delay |
| HP:0001344 | Absent speech |
| HP:0001508 | Failure to thrive |
| HP:0001510 | Growth delay |
| HP:0003593 | Infantile onset |
| HP:0005280 | Depressed nasal bridge |
| HP:0011800 | Midface retrusion |
| HP:0032988 | Persistent head lag |
| HP:0000717 | Autism |
GWAS associations
0 associations (top):
MeSH disease descriptors (3)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D001321 | Autistic Disorder | F03.625.164.113.500 |
| D008607 | Intellectual Disability | C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539 |
| D008831 | Microcephaly | C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
20 total (human), top 20 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Nickel | increases expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| nickel sulfate | decreases expression | 1 |
| vanadyl sulfate | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| torcetrapib | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Temozolomide | affects response to substance | 1 |
| Zoledronic Acid | increases expression | 1 |
| Leflunomide | increases expression | 1 |
| Carmustine | affects response to substance | 1 |
| Doxorubicin | decreases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Valproic Acid | decreases expression | 1 |
| Antirheumatic Agents | decreases expression | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT05657860 | PHASE4 | COMPLETED | Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome |
| NCT05744479 | PHASE4 | RECRUITING | Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability |
| NCT06107829 | PHASE4 | WITHDRAWN | Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities |
| NCT06997198 | PHASE4 | NOT_YET_RECRUITING | Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities |
| NCT00211796 | PHASE4 | COMPLETED | Divalproex Sodium ER in Adult Autism |
| NCT00391261 | PHASE4 | COMPLETED | An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications. |
| NCT00409747 | PHASE4 | COMPLETED | Minocycline to Treat Childhood Regressive Autism |
| NCT00576732 | PHASE4 | COMPLETED | A Study of the Effectiveness and Safety of Two Doses of Risperidone in the Treatment of Children and Adolescents With Autistic Disorder |
| NCT00844753 | PHASE4 | COMPLETED | Atomoxetine, Placebo and Parent Management Training in Autism |
| NCT01028820 | PHASE4 | COMPLETED | FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders |
| NCT01098383 | PHASE4 | UNKNOWN | Treatment With Acetyl-Choline Esterase Inhibitors in Children With 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 |
| NCT02069977 | PHASE4 | UNKNOWN | Study to Evaluate the Efficacy and Safety of Aripiprazole |
| NCT02096952 | PHASE4 | COMPLETED | Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD |
| NCT02199925 | PHASE4 | UNKNOWN | An Open-Label Study to Evaluate the Efficacy of High-Dose Gammaplex in Children on the Autism Spectrum |
| NCT02235467 | PHASE4 | COMPLETED | Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism |
| NCT02255565 | PHASE4 | COMPLETED | Dose Response Effects of Quillivant XR in Children With ADHD and Autism: A Pilot Study |
| 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 |
| NCT02270736 | PHASE3 | COMPLETED | Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability |
| NCT00036231 | PHASE3 | TERMINATED | Synthetic Human Secretin in Children With Autism and Gastrointestinal Dysfunction |
| NCT00036244 | PHASE3 | COMPLETED | Synthetic Human Secretin in Children With Autism |
| NCT00065884 | PHASE3 | UNKNOWN | Valproate Response in Aggressive Autistic Adolescents |
| NCT00065962 | PHASE3 | COMPLETED | Secretin for the Treatment of Autism |
| NCT00252603 | PHASE3 | COMPLETED | Galantamine Versus Placebo in Childhood Autism |
| NCT00346736 | PHASE3 | COMPLETED | Use of Acupuncture In Children With Autistic Spectrum Disorder |
Related Atlas pages
- Associated diseases: intellectual disability, autosomal recessive 27, autosomal recessive non-syndromic intellectual disability, complex neurodevelopmental disorder
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): autosomal recessive non-syndromic intellectual disability, intellectual disability, autosomal recessive 27