LRCH2
gene geneOn this page
Also known as KIAA1495
Summary
LRCH2 (leucine rich repeats and calponin homology domain containing 2, HGNC:29292) is a protein-coding gene on chromosome Xq23, encoding Leucine-rich repeat and calponin homology domain-containing protein 2 (Q5VUJ6). May play a role in the organization of the cytoskeleton.
This gene encodes a member of the leucine-rich repeat and calponin homology domain-containing protein family. These family members contain multiple N-terminal leucine-rich repeats, in addition to a C-terminal calponin homology domain, a type of domain that mediates interactions with actin filaments. These proteins are conserved across animal species, and studies of a similar Drosophila protein indicate a function as a cytoskeletal scaffolding protein. Alternative splicing of this gene results in multiple transcript variants.
Source: NCBI Gene 57631 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 437 total — 1 pathogenic
- MANE Select transcript:
NM_020871
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29292 |
| Approved symbol | LRCH2 |
| Name | leucine rich repeats and calponin homology domain containing 2 |
| Location | Xq23 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1495 |
| Ensembl gene | ENSG00000130224 |
| Ensembl biotype | protein_coding |
| Entrez | 57631 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 3 protein_coding
ENST00000317135, ENST00000538422, ENST00000857824
RefSeq mRNA: 2 — MANE Select: NM_020871
NM_001243963, NM_020871
CCDS: CCDS48155, CCDS59175
Canonical transcript exons
ENST00000317135 — 21 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000893712 | 115126843 | 115126893 |
| ENSE00000893717 | 115150022 | 115150070 |
| ENSE00000893718 | 115156602 | 115156667 |
| ENSE00000893720 | 115165405 | 115165463 |
| ENSE00000893721 | 115165558 | 115165655 |
| ENSE00000893722 | 115165841 | 115165952 |
| ENSE00000893723 | 115166255 | 115166342 |
| ENSE00000893724 | 115170299 | 115170432 |
| ENSE00001126344 | 115163676 | 115163783 |
| ENSE00001126364 | 115179427 | 115179563 |
| ENSE00001139020 | 115149827 | 115149943 |
| ENSE00001217430 | 115123945 | 115124002 |
| ENSE00001217439 | 115130155 | 115130199 |
| ENSE00001217444 | 115122527 | 115122604 |
| ENSE00001217450 | 115122760 | 115122897 |
| ENSE00001217462 | 115123080 | 115123192 |
| ENSE00001375363 | 115184411 | 115184537 |
| ENSE00001376389 | 115179646 | 115179751 |
| ENSE00001456458 | 115110616 | 115113335 |
| ENSE00001769531 | 115188226 | 115188370 |
| ENSE00003847550 | 115233693 | 115234096 |
Expression profiles
Bgee: expression breadth ubiquitous, 207 present calls, max score 87.40.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.0058 / max 108.5483, expressed in 978 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 200239 | 3.0251 | 896 |
| 200240 | 0.9807 | 520 |
Top tissues by expression
249 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ganglionic eminence | UBERON:0004023 | 87.40 | gold quality |
| cortical plate | UBERON:0005343 | 86.00 | gold quality |
| ventricular zone | UBERON:0003053 | 83.29 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 81.49 | silver quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 80.29 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 79.80 | gold quality |
| calcaneal tendon | UBERON:0003701 | 78.71 | gold quality |
| tibial artery | UBERON:0007610 | 78.67 | gold quality |
| popliteal artery | UBERON:0002250 | 78.65 | gold quality |
| seminal vesicle | UBERON:0000998 | 78.64 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 77.88 | silver quality |
| smooth muscle tissue | UBERON:0001135 | 77.71 | gold quality |
| cauda epididymis | UBERON:0004360 | 76.96 | gold quality |
| aorta | UBERON:0000947 | 76.69 | gold quality |
| adrenal tissue | UBERON:0018303 | 76.39 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 76.37 | gold quality |
| urethra | UBERON:0000057 | 76.23 | gold quality |
| left ovary | UBERON:0002119 | 76.02 | gold quality |
| stromal cell of endometrium | CL:0002255 | 75.92 | gold quality |
| ovary | UBERON:0000992 | 75.80 | gold quality |
| lower lobe of lung | UBERON:0008949 | 75.67 | gold quality |
| myometrium | UBERON:0001296 | 75.33 | gold quality |
| prostate gland | UBERON:0002367 | 75.32 | gold quality |
| right ovary | UBERON:0002118 | 75.23 | gold quality |
| urinary bladder | UBERON:0001255 | 74.91 | gold quality |
| visceral pleura | UBERON:0002401 | 74.91 | gold quality |
| mucosa of stomach | UBERON:0001199 | 74.84 | gold quality |
| body of uterus | UBERON:0009853 | 74.82 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 74.67 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 74.57 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-81608 | yes | 4.81 |
| E-ANND-3 | no | 4.60 |
| E-ENAD-27 | no | 3.48 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
148 targeting LRCH2, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-4776-3P | 100.00 | 68.73 | 1340 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-499A-5P | 99.98 | 70.79 | 1323 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-96-5P | 99.95 | 72.80 | 2140 |
| HSA-MIR-101-3P | 99.94 | 75.03 | 2230 |
| HSA-MIR-144-3P | 99.94 | 73.98 | 2698 |
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | lrch2 | ENSDARG00000075580 |
| mus_musculus | Lrch2 | ENSMUSG00000031290 |
| rattus_norvegicus | Lrch2 | ENSRNOG00000029582 |
Paralogs (31): LRRC7 (ENSG00000033122), PHLPP2 (ENSG00000040199), LRRC40 (ENSG00000066557), LRCH4 (ENSG00000077454), PHLPP1 (ENSG00000081913), SHOC2 (ENSG00000108061), ERBIN (ENSG00000112851), LRRC39 (ENSG00000122477), LRCH1 (ENSG00000136141), LRRC8A (ENSG00000136802), LRRC1 (ENSG00000137269), MFHAS1 (ENSG00000147324), LRRC27 (ENSG00000148814), LRRK1 (ENSG00000154237), LRRC58 (ENSG00000163428), LRRC2 (ENSG00000163827), LRRC18 (ENSG00000165383), LRRC28 (ENSG00000168904), LRRC8E (ENSG00000171017), LRRC8C (ENSG00000171488), LRRC8D (ENSG00000171492), PIDD1 (ENSG00000177595), SCRIB (ENSG00000180900), LRCH3 (ENSG00000186001), LRRIQ4 (ENSG00000188306), LRRC8B (ENSG00000197147), LRRC10 (ENSG00000198812), LRRC10B (ENSG00000204950), LRRC30 (ENSG00000206422), LRRC69 (ENSG00000214954), LRRD1 (ENSG00000240720)
Protein
Protein identifiers
Leucine-rich repeat and calponin homology domain-containing protein 2 — Q5VUJ6 (reviewed: Q5VUJ6)
All UniProt accessions (1): Q5VUJ6
UniProt curated annotations — full annotation on UniProt →
Function. May play a role in the organization of the cytoskeleton.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q5VUJ6-1 | 1 | yes |
| Q5VUJ6-2 | 2 |
RefSeq proteins (2): NP_001230892, NP_065922* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001611 | Leu-rich_rpt | Repeat |
| IPR001715 | CH_dom | Domain |
| IPR003591 | Leu-rich_rpt_typical-subtyp | Repeat |
| IPR032675 | LRR_dom_sf | Homologous_superfamily |
| IPR036872 | CH_dom_sf | Homologous_superfamily |
| IPR050216 | LRR_domain-containing | Family |
Pfam: PF00307, PF13855
UniProt features (23 total): repeat 9, region of interest 5, compositionally biased region 4, chain 1, domain 1, coiled-coil region 1, splice variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5VUJ6-F1 | 62.83 | 0.24 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 127 (showing top):
RRAGTTGT_UNKNOWN, TAATAAT_MIR126, BENPORATH_ES_WITH_H3K27ME3, TGCACTT_MIR519C_MIR519B_MIR519A, GAUSSMANN_MLL_AF4_FUSION_TARGETS_G_DN, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, BEIER_GLIOMA_STEM_CELL_DN, ATGTTAA_MIR302C, AACWWCAANK_UNKNOWN, AGTCTTA_MIR499, KOYAMA_SEMA3B_TARGETS_UP, GATA6_01, ATTCTTT_MIR186, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, JAATINEN_HEMATOPOIETIC_STEM_CELL_UP
GO Biological Process (0):
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (0):
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 1 |
Protein interactions and networks
STRING
1108 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LRCH2 | LHFPL1 | Q86WI0 | 580 |
| LRCH2 | TTC32 | Q5I0X7 | 451 |
| LRCH2 | HTR2C | P28335 | 443 |
| LRCH2 | AMOT | Q4VCS5 | 406 |
| LRCH2 | ERICH6 | Q7L0X2 | 391 |
| LRCH2 | HAUS3 | Q68CZ6 | 386 |
| LRCH2 | ZDHHC23 | Q8IYP9 | 375 |
| LRCH2 | OR2AE1 | Q8NHA4 | 374 |
| LRCH2 | CTCF | P49711 | 373 |
| LRCH2 | ATRX | P46100 | 366 |
| LRCH2 | CFAP95 | Q5VTT2 | 349 |
| LRCH2 | EML3 | Q32P44 | 331 |
| LRCH2 | ZSWIM4 | Q9H7M6 | 326 |
| LRCH2 | L3HYPDH | Q96EM0 | 324 |
| LRCH2 | TBC1D8B | Q0IIM8 | 322 |
| LRCH2 | CSTL1 | Q9H114 | 322 |
IntAct
85 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MOB1B | LATS1 | psi-mi:“MI:0914”(association) | 0.840 |
| DOCK8 | LRCH2 | psi-mi:“MI:0915”(physical association) | 0.740 |
| DOCK8 | LRCH2 | psi-mi:“MI:0914”(association) | 0.740 |
| MOB1A | LATS1 | psi-mi:“MI:0914”(association) | 0.670 |
| ARPC3 | ARPC2 | psi-mi:“MI:0914”(association) | 0.640 |
| RCCD1 | SPAG9 | psi-mi:“MI:0914”(association) | 0.640 |
| DOCK8 | LRCH4 | psi-mi:“MI:0914”(association) | 0.620 |
| YWHAH | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.610 |
| BPNT1 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| SKP2 | DPYSL4 | psi-mi:“MI:0914”(association) | 0.530 |
| NPRL2 | ZBTB5 | psi-mi:“MI:0914”(association) | 0.530 |
| PSME1 | POLR3A | psi-mi:“MI:0914”(association) | 0.530 |
| TGM4 | DDHD2 | psi-mi:“MI:0914”(association) | 0.530 |
| LRCH3 | LRCH2 | psi-mi:“MI:0914”(association) | 0.530 |
| DOCK7 | LRCH2 | psi-mi:“MI:0914”(association) | 0.530 |
| CBY1 | CFAP410 | psi-mi:“MI:0914”(association) | 0.510 |
| DCAF7 | CLASP2 | psi-mi:“MI:0914”(association) | 0.510 |
| MOB1B | PPP6C | psi-mi:“MI:2364”(proximity) | 0.480 |
| MOB1A | ANKRD28 | psi-mi:“MI:0914”(association) | 0.420 |
BioGRID (105): LRCH2 (Affinity Capture-MS), LRCH2 (Affinity Capture-MS), LRCH2 (Affinity Capture-MS), LRCH2 (Affinity Capture-MS), LRCH2 (Affinity Capture-MS), LRCH2 (Affinity Capture-MS), LRCH2 (Affinity Capture-MS), LRCH2 (Affinity Capture-MS), LRCH2 (Affinity Capture-MS), LRCH2 (Affinity Capture-MS), LRCH2 (Affinity Capture-MS), LRCH2 (Affinity Capture-MS), LRCH2 (Affinity Capture-MS), CBY1 (Affinity Capture-MS), LRCH2 (Affinity Capture-MS)
ESM2 similar proteins: A1A4L4, A1A5R8, A2RRS8, A5PLL1, B0BF33, D4A039, D4AEC2, P0C6C1, Q08AD1, Q08AX9, Q0P557, Q0VA42, Q12923, Q13009, Q3B7T8, Q3UMB5, Q3UMG5, Q3UQI9, Q3UUF8, Q4R9E9, Q5JTW2, Q5PQ89, Q5SUS0, Q5TB30, Q5VUJ6, Q5ZIX8, Q64512, Q68FF0, Q6AY22, Q6GQJ2, Q6IE81, Q6IE82, Q6ING4, Q6IRU7, Q6NPP4, Q6NSI8, Q6P1H6, Q6ZPI0, Q7TP65, Q7ZVP1
Diamond homologs: O75427, P26932, P41737, P52735, P62046, Q3UMG5, Q5S006, Q5VUJ6, Q60992, Q6Z8P4, Q8BVU0, Q921G6, Q96II8, Q9R0C8, Q9Y2L9, B9EUM5, B9G8P1, O14188, P14318, P15498, P19966, P27870, P31232, P37397, P37802, P37803, P37804, P37805, P51911, P54100, Q01995, Q08091, Q08092, Q08093, Q08094, Q08290, Q08DN7, Q14155, Q15052, Q15417
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
437 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 321 |
| Likely benign | 30 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1342852 | NM_020871.4(LRCH2):c.772A>G (p.Lys258Glu) | Pathogenic |
SpliceAI
3323 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:115122759:CCA:C | donor_gain | 1.0000 |
| X:115123074:A:AC | donor_gain | 1.0000 |
| X:115123074:ACTT:A | donor_loss | 1.0000 |
| X:115123075:C:CC | donor_gain | 1.0000 |
| X:115123076:TTAC:T | donor_loss | 1.0000 |
| X:115123078:A:AC | donor_gain | 1.0000 |
| X:115123078:ACGTT:A | donor_loss | 1.0000 |
| X:115123079:C:CG | donor_gain | 1.0000 |
| X:115123079:CG:C | donor_gain | 1.0000 |
| X:115123079:CGT:C | donor_gain | 1.0000 |
| X:115123079:CGTT:C | donor_gain | 1.0000 |
| X:115123079:CGTTG:C | donor_gain | 1.0000 |
| X:115123188:AAAAG:A | acceptor_gain | 1.0000 |
| X:115123189:AAAG:A | acceptor_gain | 1.0000 |
| X:115123190:AAG:A | acceptor_gain | 1.0000 |
| X:115123191:AG:A | acceptor_gain | 1.0000 |
| X:115123193:C:CC | acceptor_gain | 1.0000 |
| X:115123194:T:C | acceptor_loss | 1.0000 |
| X:115123998:TATTC:T | acceptor_gain | 1.0000 |
| X:115124000:TTC:T | acceptor_gain | 1.0000 |
| X:115124000:TTCC:T | acceptor_loss | 1.0000 |
| X:115124002:CCTA:C | acceptor_loss | 1.0000 |
| X:115124003:C:A | acceptor_loss | 1.0000 |
| X:115126901:A:C | acceptor_gain | 1.0000 |
| X:115150069:CA:C | acceptor_gain | 1.0000 |
| X:115150071:C:CC | acceptor_gain | 1.0000 |
| X:115158347:T:C | acceptor_gain | 1.0000 |
| X:115158347:T:TC | acceptor_gain | 1.0000 |
| X:115163670:GAATA:G | donor_loss | 1.0000 |
| X:115163674:ACCTG:A | donor_loss | 1.0000 |
AlphaMissense
5015 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| X:115113262:A:G | L751P | 1.000 |
| X:115113262:A:T | L751H | 1.000 |
| X:115113271:A:T | V748D | 1.000 |
| X:115113274:G:T | T747K | 1.000 |
| X:115113310:A:C | I735S | 1.000 |
| X:115113310:A:G | I735T | 1.000 |
| X:115113310:A:T | I735N | 1.000 |
| X:115113324:A:C | C730W | 1.000 |
| X:115113325:C:T | C730Y | 1.000 |
| X:115113326:A:G | C730R | 1.000 |
| X:115122534:A:T | V724D | 1.000 |
| X:115122548:A:C | C719W | 1.000 |
| X:115122549:C:T | C719Y | 1.000 |
| X:115122550:A:G | C719R | 1.000 |
| X:115122552:G:T | A718D | 1.000 |
| X:115122553:C:G | A718P | 1.000 |
| X:115122558:A:G | L716P | 1.000 |
| X:115122560:A:C | F715L | 1.000 |
| X:115122560:A:T | F715L | 1.000 |
| X:115122561:A:C | F715C | 1.000 |
| X:115122561:A:G | F715S | 1.000 |
| X:115122562:A:G | F715L | 1.000 |
| X:115122570:A:T | V712E | 1.000 |
| X:115122572:A:C | N711K | 1.000 |
| X:115122572:A:T | N711K | 1.000 |
| X:115122573:T:A | N711I | 1.000 |
| X:115122573:T:C | N711S | 1.000 |
| X:115122573:T:G | N711T | 1.000 |
| X:115122574:T:A | N711Y | 1.000 |
| X:115122574:T:C | N711D | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000113932 (X:115116945 T>A), RS1000164860 (X:115159881 A>G), RS1000193794 (X:115174504 T>C), RS1000274183 (X:115174261 G>A,C), RS1000287337 (X:115231626 T>C), RS1000315509 (X:115196885 G>A), RS1000397031 (X:115165164 T>C), RS1000400726 (X:115117525 A>C), RS1000403754 (X:115183968 A>G), RS1000495313 (X:115203909 C>A), RS1000515291 (X:115213382 A>T), RS1000581303 (X:115154671 G>A,T), RS1000636189 (X:115232177 T>C), RS1000640807 (X:115135286 A>G), RS1000753984 (X:115145295 T>C)
Disease associations
OMIM: gene `` | disease phenotypes: MIM:148840
GenCC curated gene-disease
Mondo (4): cerebellar ataxia (MONDO:0000437), demyelinating polyneuropathy (MONDO:0003334), Kleine-Levin syndrome (MONDO:0007863), neurodevelopmental disorder (MONDO:0700092)
Orphanet (2): Rare ataxia (Orphanet:102002), Kleine-Levin syndrome (Orphanet:33543)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
MeSH disease descriptors (3)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D002524 | Cerebellar Ataxia | C10.228.140.252.190; C10.597.350.090.500; C23.888.592.350.090.200 |
| D017593 | Kleine-Levin Syndrome | C10.886.425.800.200.500; F03.870.400.800.200.500 |
| D065886 | Neurodevelopmental Disorders | F03.625 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases expression, increases methylation, affects expression | 4 |
| Aflatoxin B1 | affects expression, decreases methylation | 2 |
| bisphenol F | increases methylation | 1 |
| methylmercuric chloride | decreases expression | 1 |
| propionaldehyde | increases expression | 1 |
| bisphenol A | increases methylation | 1 |
| trichostatin A | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| butyraldehyde | increases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| abrine | increases expression | 1 |
| bisphenol S | decreases methylation, affects cotreatment | 1 |
| Temozolomide | increases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Ethanol | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Formaldehyde | increases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Silicon Dioxide | increases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Antirheumatic Agents | increases expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 1 |
Clinical trials (associated diseases)
299 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00950196 | PHASE4 | COMPLETED | Amantadine for Improving Neurologic Symptoms in Ataxia-Telangiectasia |
| NCT04107740 | PHASE4 | COMPLETED | C-Trelin Orally Disintegrated(OD) Tablet 5mg in Ataxia Due to Spinocerebellar Degeneration |
| NCT04586348 | PHASE4 | UNKNOWN | Prenatal Iodine Supplementation and Early Childhood Neurodevelopment |
| NCT04873115 | PHASE4 | UNKNOWN | Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties, |
| NCT01970098 | PHASE3 | COMPLETED | A Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) |
| NCT01970111 | PHASE3 | COMPLETED | An Extension Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) |
| NCT01970124 | PHASE3 | COMPLETED | A Long-Term Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) |
| NCT01970137 | PHASE3 | COMPLETED | A 24-week Open-label Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) |
| NCT02889302 | PHASE3 | COMPLETED | An Additional Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) |
| NCT03408080 | PHASE3 | ACTIVE_NOT_RECRUITING | Open Pilot Trial of BHV-4157 |
| NCT03701399 | PHASE3 | ACTIVE_NOT_RECRUITING | Troriluzole in Adult Participants With Spinocerebellar Ataxia |
| NCT03901638 | PHASE3 | TERMINATED | Tllsh2910 for Ataxia and Gut Microbiota Alteration in Patients of Multiple System Atrophy |
| NCT07040137 | PHASE3 | RECRUITING | Confirmatory Study 3 of KPS-0373 in Patients With Spinocerebellar Degeneration |
| NCT01349270 | PHASE3 | COMPLETED | Randomized Open-label Trial to Compare Efficacy and Tolerance of Corticosteroids and IVIg |
| NCT02559102 | PHASE3 | COMPLETED | Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants |
| NCT02757079 | PHASE3 | COMPLETED | Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders |
| NCT06915480 | PHASE3 | RECRUITING | Reducing Missed Appointments |
| NCT07377032 | PHASE3 | RECRUITING | TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders |
| NCT00034242 | PHASE2 | COMPLETED | High-Dose Intravenous Immunoglobulin to Treat Cerebellar Degeneration |
| NCT00202397 | PHASE2 | COMPLETED | Effect of Riluzole as a Symptomatic Approach in Patients With Chronic Cerebellar Ataxia |
| NCT00863538 | PHASE2 | COMPLETED | Phase II Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) |
| NCT01004016 | PHASE2 | COMPLETED | A Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) |
| NCT01350440 | PHASE2 | COMPLETED | Safety and Efficacy of Intravenous Immune Globulin in Treating Spinocerebellar Ataxia |
| NCT02540655 | PHASE2 | COMPLETED | Efficacy and Safety Study of Stemchymal® in Polyglutamine Spinocerebellar Ataxia |
| NCT03932669 | PHASE2 | COMPLETED | Effect of Nilotinib in Cerebellar Ataxia Patients |
| NCT04301284 | PHASE2 | WITHDRAWN | Study of CAD-1883 for Spinocerebellar Ataxia |
| NCT05125666 | PHASE2 | UNKNOWN | Efficacy of Dual Task Training on Children With Ataxia After Medulloblastoma Resection |
| NCT06397274 | PHASE2 | NOT_YET_RECRUITING | Stemchymal® for Polyglutamine Spinocerebellar Ataxia |
| NCT02909959 | PHASE2 | COMPLETED | Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder |
| NCT06081348 | PHASE2 | RECRUITING | Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders |
| NCT06352372 | PHASE2 | COMPLETED | Safety and Efficacy of tPBM for Epileptiform Activity in Autism |
| NCT00683943 | PHASE1 | COMPLETED | Lithium Treatment for Patients With Spinocerebellar Ataxia Type I |
| NCT02287064 | PHASE1 | UNKNOWN | An Open-label Trial of Intravenous Immune Globulin (IVIG)in Treating Spinocerebellar Ataxias |
| NCT05157802 | PHASE1 | ACTIVE_NOT_RECRUITING | Promoting Physical Activity Engagement for People With Early-stage Cerebellar Ataxia |
| NCT00503191 | PHASE1 | COMPLETED | NeuroModulation Technique Treatment of Autism |
| NCT04475848 | PHASE1 | COMPLETED | A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants |
| NCT06300398 | PHASE1 | COMPLETED | IAMA-6 Oral Dose Study in Healthy Adults |
| NCT01104649 | PHASE2/PHASE3 | COMPLETED | Efficacy of Riluzole in Hereditary Cerebellar Ataxia |
| NCT02960893 | PHASE2/PHASE3 | COMPLETED | Trial in Adult Participants With Spinocerebellar Ataxia (SCA) |
| NCT00244361 | PHASE1/PHASE2 | COMPLETED | Effectiveness of Rituximab in Pediatric OMS Patients. |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): cerebellar ataxia, demyelinating polyneuropathy, Kleine-Levin syndrome