LRCH1
gene geneOn this page
Also known as KIAA1016
Summary
LRCH1 (leucine rich repeats and calponin homology domain containing 1, HGNC:20309) is a protein-coding gene on chromosome 13q14.13-q14.2, encoding Leucine-rich repeat and calponin homology domain-containing protein 1 (Q9Y2L9). Acts as a negative regulator of GTPase CDC42 by sequestering CDC42-guanine exchange factor DOCK8.
This gene encodes a protein with a leucine-rich repeat and a calponin homology domain. Polymorphism in this gene may be associated with susceptibililty to knee osteoarthritis. Alternative splicing results in multiple transcript variants encoding different isoforms.
Source: NCBI Gene 23143 — RefSeq curated summary.
At a glance
- GWAS associations: 20
- Clinical variants (ClinVar): 147 total
- MANE Select transcript:
NM_001164211
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20309 |
| Approved symbol | LRCH1 |
| Name | leucine rich repeats and calponin homology domain containing 1 |
| Location | 13q14.13-q14.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1016 |
| Ensembl gene | ENSG00000136141 |
| Ensembl biotype | protein_coding |
| OMIM | 610368 |
| Entrez | 23143 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 5 protein_coding, 1 retained_intron
ENST00000311191, ENST00000389797, ENST00000389798, ENST00000443945, ENST00000463929, ENST00000478412
RefSeq mRNA: 3 — MANE Select: NM_001164211
NM_001164211, NM_001164213, NM_015116
CCDS: CCDS31972, CCDS53865, CCDS53866
Canonical transcript exons
ENST00000389797 — 20 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000462919 | 46733921 | 46733998 |
| ENSE00000836792 | 46711791 | 46711844 |
| ENSE00000836793 | 46712525 | 46712597 |
| ENSE00000836794 | 46723221 | 46723330 |
| ENSE00000923425 | 46705268 | 46705304 |
| ENSE00000923426 | 46728847 | 46728984 |
| ENSE00001533432 | 46715560 | 46715664 |
| ENSE00001822114 | 46553170 | 46553703 |
| ENSE00001943587 | 46741642 | 46744898 |
| ENSE00003468204 | 46685905 | 46686041 |
| ENSE00003469258 | 46681741 | 46681846 |
| ENSE00003503630 | 46689133 | 46689196 |
| ENSE00003514231 | 46694893 | 46695017 |
| ENSE00003537221 | 46650201 | 46650345 |
| ENSE00003579610 | 46692536 | 46692641 |
| ENSE00003591207 | 46705068 | 46705157 |
| ENSE00003604041 | 46687852 | 46687979 |
| ENSE00003644993 | 46669030 | 46669156 |
| ENSE00003662060 | 46701121 | 46701207 |
| ENSE00003672446 | 46699336 | 46699403 |
Expression profiles
Bgee: expression breadth ubiquitous, 247 present calls, max score 91.34.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.9978 / max 252.0935, expressed in 1795 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 135014 | 10.7846 | 1757 |
| 135017 | 5.0778 | 1589 |
| 135015 | 1.4983 | 824 |
| 135016 | 0.3261 | 150 |
| 135018 | 0.3111 | 137 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cerebellar cortex | UBERON:0002129 | 91.34 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 91.33 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 90.91 | gold quality |
| cerebellum | UBERON:0002037 | 90.71 | gold quality |
| cauda epididymis | UBERON:0004360 | 90.05 | gold quality |
| secondary oocyte | CL:0000655 | 90.04 | gold quality |
| urethra | UBERON:0000057 | 89.19 | gold quality |
| visceral pleura | UBERON:0002401 | 89.11 | gold quality |
| oocyte | CL:0000023 | 89.01 | gold quality |
| saphenous vein | UBERON:0007318 | 88.99 | gold quality |
| cerebellar vermis | UBERON:0004720 | 88.98 | gold quality |
| upper leg skin | UBERON:0004262 | 88.48 | gold quality |
| mucosa of stomach | UBERON:0001199 | 88.19 | gold quality |
| calcaneal tendon | UBERON:0003701 | 88.04 | gold quality |
| popliteal artery | UBERON:0002250 | 87.93 | gold quality |
| tibial artery | UBERON:0007610 | 87.93 | gold quality |
| cortical plate | UBERON:0005343 | 87.62 | gold quality |
| sural nerve | UBERON:0015488 | 87.39 | gold quality |
| seminal vesicle | UBERON:0000998 | 87.31 | gold quality |
| aorta | UBERON:0000947 | 86.97 | gold quality |
| penis | UBERON:0000989 | 86.94 | gold quality |
| synovial joint | UBERON:0002217 | 86.94 | gold quality |
| renal medulla | UBERON:0000362 | 86.76 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 86.74 | gold quality |
| colonic epithelium | UBERON:0000397 | 86.46 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 86.12 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 86.09 | gold quality |
| right lung | UBERON:0002167 | 86.08 | gold quality |
| lower esophagus | UBERON:0013473 | 86.05 | gold quality |
| skin of leg | UBERON:0001511 | 85.95 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-119 | yes | 48.48 |
| E-ANND-3 | yes | 5.68 |
| E-GEOD-99795 | no | 5.94 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
131 targeting LRCH1, 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-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-4715-3P | 99.98 | 66.03 | 670 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-6793-5P | 99.97 | 65.95 | 758 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-146A-5P | 99.96 | 68.93 | 988 |
| HSA-MIR-146B-5P | 99.96 | 69.13 | 977 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-4487 | 99.96 | 64.58 | 1252 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-7153-5P | 99.94 | 68.89 | 1006 |
| HSA-MIR-218-5P | 99.93 | 72.22 | 2103 |
| HSA-MIR-4778-3P | 99.93 | 70.40 | 1818 |
| HSA-MIR-205-3P | 99.92 | 69.92 | 3165 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
Literature-anchored findings (GeneRIF, showing 7)
- A genetic variant in LRCH1 was consistently associated with knee osteoarthritis in 3 samples from 2 populations. (PMID:16447229)
- results suggest that there is no association between LRCH1 and knee osteoarthritis susceptibility (PMID:18049793)
- Letter: Did not observe an association between LRCH-1 SNPs and knee osteoarthritis. (PMID:22325041)
- In the analysis of hip osteoarthritis cases with superior maximum joint space narrowing (JSN) versus cases with non-superior maximum JSN we detected association with a variant in the LRCH1 gene. (PMID:27974301)
- found a significant association between the four LRCH1 polymorphisms and delayed encephalopathy after acute carbon monoxide poisoning (DEACMP). The allelic A of rs9534475 polymorphism in LRCH1 might be a risk factor for DEACMP (PMID:31842790)
- LRCH1 suppresses migration of CD4(+) T cells and refers to disease activity in ulcerative colitis. (PMID:32210709)
- LRCH1 deficiency enhances LAT signalosome formation and CD8(+) T cell responses against tumors and pathogens. (PMID:32727906)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | lrch1 | ENSDARG00000078778 |
| mus_musculus | Lrch1 | ENSMUSG00000068015 |
| rattus_norvegicus | Lrch1 | ENSRNOG00000009412 |
Paralogs (31): LRRC7 (ENSG00000033122), PHLPP2 (ENSG00000040199), LRRC40 (ENSG00000066557), LRCH4 (ENSG00000077454), PHLPP1 (ENSG00000081913), SHOC2 (ENSG00000108061), ERBIN (ENSG00000112851), LRRC39 (ENSG00000122477), LRCH2 (ENSG00000130224), 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 1 — Q9Y2L9 (reviewed: Q9Y2L9)
Alternative names: Calponin homology domain-containing protein 1, Neuronal protein 81
All UniProt accessions (3): C9J5B8, C9JWE0, Q9Y2L9
UniProt curated annotations — full annotation on UniProt →
Function. Acts as a negative regulator of GTPase CDC42 by sequestering CDC42-guanine exchange factor DOCK8. Probably by preventing CDC42 activation, negatively regulates CD4(+) T-cell migration.
Subunit / interactions. Interacts (via LRR repeats) with unphosphorylated DOCK8 (via DHR-2 domain); the interaction prevents the interaction between DOCK8 and CDC42.
Subcellular location. Cytoplasm.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9Y2L9-1 | 1, b, NP81b | yes |
| Q9Y2L9-2 | 2, a, NP81a | |
| Q9Y2L9-3 | 3 |
RefSeq proteins (3): NP_001157683, NP_001157685, NP_055931 (=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 (31 total): repeat 9, compositionally biased region 5, modified residue 5, region of interest 4, splice variant 3, sequence variant 2, chain 1, domain 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y2L9-F1 | 63.18 | 0.14 |
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 (5): 370, 409, 532, 536, 568
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 174 (showing top):
CREL_01, GOBP_RESPONSE_TO_PEPTIDE, GOBP_NEGATIVE_REGULATION_OF_HYDROLASE_ACTIVITY, GOZGIT_ESR1_TARGETS_DN, GAUSSMANN_MLL_AF4_FUSION_TARGETS_C_UP, GOBP_REGULATION_OF_GTPASE_ACTIVITY, CAGCTG_AP4_Q5, GOBP_REGULATION_OF_LEUKOCYTE_MIGRATION, GOBP_REGULATION_OF_MONONUCLEAR_CELL_MIGRATION, NFKB_C, GOBP_LEUKOCYTE_MIGRATION, CCANNAGRKGGC_UNKNOWN, GOBP_REGULATION_OF_HYDROLASE_ACTIVITY, FOSTER_TOLERANT_MACROPHAGE_UP, GOBP_NEGATIVE_REGULATION_OF_LEUKOCYTE_MIGRATION
GO Biological Process (3): negative regulation of GTPase activity (GO:0034260), cellular response to chemokine (GO:1990869), negative regulation of T cell migration (GO:2000405)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (1): cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| GTPase activity | 1 |
| regulation of GTPase activity | 1 |
| negative regulation of biological process | 1 |
| negative regulation of hydrolase activity | 1 |
| cellular response to cytokine stimulus | 1 |
| response to chemokine | 1 |
| T cell migration | 1 |
| negative regulation of lymphocyte migration | 1 |
| regulation of T cell migration | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1320 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LRCH1 | NME8 | Q8N427 | 685 |
| LRCH1 | TM2D3 | Q9BRN9 | 648 |
| LRCH1 | ZFAND4 | Q86XD8 | 626 |
| LRCH1 | A0A590UK56 | A0A590UK56 | 611 |
| LRCH1 | DOCK8 | Q8NF50 | 604 |
| LRCH1 | TNFAIP6 | P98066 | 599 |
| LRCH1 | DOCK6 | Q96HP0 | 563 |
| LRCH1 | RHOB | P01121 | 554 |
| LRCH1 | FRZB | Q92765 | 549 |
| LRCH1 | LPAR1 | P78351 | 549 |
| LRCH1 | DIRAS1 | O95057 | 535 |
| LRCH1 | PDP2 | Q9P2J9 | 477 |
| LRCH1 | UBL4B | Q8N7F7 | 477 |
| LRCH1 | CTIF | O43310 | 447 |
| LRCH1 | EPAS1 | Q99814 | 429 |
| LRCH1 | ITGA6 | P23229 | 429 |
IntAct
49 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| LRCH1 | DOCK7 | psi-mi:“MI:0915”(physical association) | 0.800 |
| DOCK8 | LRCH1 | psi-mi:“MI:0915”(physical association) | 0.740 |
| DOCK8 | LRCH2 | psi-mi:“MI:0914”(association) | 0.740 |
| MYO6 | GIPC1 | psi-mi:“MI:0914”(association) | 0.690 |
| MOB1A | LATS1 | psi-mi:“MI:0914”(association) | 0.670 |
| DOCK8 | LRCH1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LRCH1 | DOCK8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| YWHAE | SRSF10 | psi-mi:“MI:0914”(association) | 0.560 |
| YWHAZ | BLTP3B | psi-mi:“MI:0914”(association) | 0.530 |
| PSME1 | POLR3A | 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 |
| MOB1B | PPP6C | psi-mi:“MI:2364”(proximity) | 0.480 |
| MOB1B | ANKRD28 | psi-mi:“MI:0914”(association) | 0.420 |
| MOB1A | PPP6C | psi-mi:“MI:2364”(proximity) | 0.420 |
| MOB1A | PPP6C | psi-mi:“MI:0914”(association) | 0.420 |
| LRCH1 | DOCK7 | psi-mi:“MI:0915”(physical association) | 0.400 |
| LRCH1 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| EGLN3 | FAM168B | psi-mi:“MI:0914”(association) | 0.350 |
| NOTCH1 | CNOT1 | psi-mi:“MI:0914”(association) | 0.350 |
| DOCK6 | PSMD12 | psi-mi:“MI:0914”(association) | 0.350 |
| DOCK8 | IPO5 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (89): DOCK8 (Two-hybrid), LRCH1 (Affinity Capture-MS), LRCH1 (Affinity Capture-MS), LRCH1 (Affinity Capture-MS), LRCH1 (Affinity Capture-MS), LRCH1 (Affinity Capture-MS), LRCH1 (Affinity Capture-MS), LRCH1 (Affinity Capture-MS), LRCH1 (Affinity Capture-MS), LRCH1 (Affinity Capture-MS), LRCH1 (Proximity Label-MS), LRCH1 (Proximity Label-MS), DOCK7 (Affinity Capture-Western), LRCH1 (Affinity Capture-MS), LRCH1 (Affinity Capture-MS)
ESM2 similar proteins: A0JM56, A2RRS8, A6H759, A6NJI9, A6PVS8, B0FXQ5, B1ANS9, B7FF12, D3ZXS4, D4A039, E9QA62, F1MCA7, O00522, P62046, P70587, Q0V9Y8, Q0VAK6, Q14DL3, Q3U3V8, Q3UMG5, Q3V0L5, Q4KLV2, Q5JTW2, Q5PPX0, Q5SUS0, Q5VUJ6, Q6AXZ2, Q6AYL8, Q6GQN5, Q6IRU7, Q6P5J6, Q7Z3E5, Q7ZV84, Q80TE7, Q80TM9, Q8BGI7, Q8BVU0, Q8C008, Q8C0Q4, Q8C5W4
Diamond homologs: O75427, P26932, P41737, P52735, P62046, Q3UMG5, Q5S006, Q5VUJ6, Q60992, Q6Z8P4, Q8BVU0, Q921G6, Q96II8, Q9R0C8, Q9Y2L9, B9EUM5, O14185, O14188, P14318, P19966, P31232, P37397, P37802, P37803, P37804, P37805, P46940, P51911, Q01995, Q08091, Q08092, Q08093, Q08094, Q08290, Q08873, Q12280, Q15052, Q15417, Q24799, Q2HJ38
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
147 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 111 |
| Likely benign | 0 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4403 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 13:46553700:GCAG:G | donor_gain | 1.0000 |
| 13:46553704:G:GG | donor_gain | 1.0000 |
| 13:46650196:TATA:T | acceptor_loss | 1.0000 |
| 13:46650197:ATAG:A | acceptor_loss | 1.0000 |
| 13:46650198:TA:T | acceptor_loss | 1.0000 |
| 13:46650199:A:AG | acceptor_gain | 1.0000 |
| 13:46650199:A:AT | acceptor_loss | 1.0000 |
| 13:46650200:G:GC | acceptor_gain | 1.0000 |
| 13:46650200:GA:G | acceptor_gain | 1.0000 |
| 13:46650200:GAC:G | acceptor_gain | 1.0000 |
| 13:46650200:GACT:G | acceptor_gain | 1.0000 |
| 13:46650200:GACTT:G | acceptor_gain | 1.0000 |
| 13:46650343:GAG:G | donor_gain | 1.0000 |
| 13:46650344:AGGTA:A | donor_loss | 1.0000 |
| 13:46650346:G:GG | donor_gain | 1.0000 |
| 13:46650346:GTA:G | donor_loss | 1.0000 |
| 13:46669153:GCTG:G | donor_gain | 1.0000 |
| 13:46681733:T:TA | acceptor_gain | 1.0000 |
| 13:46689100:A:AG | acceptor_gain | 1.0000 |
| 13:46689110:A:AG | acceptor_gain | 1.0000 |
| 13:46689113:A:AG | acceptor_gain | 1.0000 |
| 13:46689113:ATT:A | acceptor_gain | 1.0000 |
| 13:46689115:T:A | acceptor_gain | 1.0000 |
| 13:46699400:GCAT:G | donor_gain | 1.0000 |
| 13:46699404:G:GG | donor_gain | 1.0000 |
| 13:46701208:GTGT:G | donor_gain | 1.0000 |
| 13:46705155:G:GT | donor_gain | 1.0000 |
| 13:46705158:G:GG | donor_gain | 1.0000 |
| 13:46705266:A:AG | acceptor_gain | 1.0000 |
| 13:46705267:G:GG | acceptor_gain | 1.0000 |
AlphaMissense
5018 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 13:46650214:C:A | N107K | 1.000 |
| 13:46650214:C:G | N107K | 1.000 |
| 13:46650283:C:A | N130K | 1.000 |
| 13:46650283:C:G | N130K | 1.000 |
| 13:46650336:T:C | L148P | 1.000 |
| 13:46669155:T:C | L193P | 1.000 |
| 13:46681808:T:C | L216P | 1.000 |
| 13:46686031:C:A | P271H | 1.000 |
| 13:46728907:G:C | G609R | 1.000 |
| 13:46728908:G:A | G609D | 1.000 |
| 13:46728919:T:C | C613R | 1.000 |
| 13:46728921:C:G | C613W | 1.000 |
| 13:46728926:T:C | L615P | 1.000 |
| 13:46728953:T:A | V624D | 1.000 |
| 13:46728962:T:A | I627N | 1.000 |
| 13:46728964:C:G | H628D | 1.000 |
| 13:46728968:T:A | V629D | 1.000 |
| 13:46733928:T:A | L637H | 1.000 |
| 13:46733951:A:G | N645D | 1.000 |
| 13:46733953:T:A | N645K | 1.000 |
| 13:46733953:T:G | N645K | 1.000 |
| 13:46553623:T:C | L76P | 0.999 |
| 13:46553629:T:C | L78P | 0.999 |
| 13:46553638:G:C | R81T | 0.999 |
| 13:46553638:G:T | R81M | 0.999 |
| 13:46553639:G:C | R81S | 0.999 |
| 13:46553639:G:T | R81S | 0.999 |
| 13:46553700:G:C | A102P | 0.999 |
| 13:46650207:C:T | S105F | 0.999 |
| 13:46650212:A:G | N107D | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000021568 (13:46552795 C>A), RS1000031111 (13:46587448 A>C,G), RS1000047792 (13:46594122 A>C,G), RS1000078406 (13:46574351 A>T), RS1000088849 (13:46722915 G>A), RS1000089534 (13:46577431 G>T), RS1000117289 (13:46677583 A>C), RS1000119393 (13:46709499 C>T), RS1000131891 (13:46635709 G>T), RS1000139157 (13:46716379 A>G), RS1000142703 (13:46722612 G>A), RS1000160109 (13:46663374 A>G), RS1000169059 (13:46571061 T>G), RS1000175117 (13:46630533 C>A,T), RS1000178504 (13:46581110 G>A,C)
Disease associations
OMIM: gene MIM:610368 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
20 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002456_8 | PR segment duration | 2.000000e-08 |
| GCST003872_7 | QRS complex (12-leadsum) | 4.000000e-10 |
| GCST004599_157 | Mean platelet volume | 3.000000e-13 |
| GCST004616_100 | Platelet distribution width | 3.000000e-30 |
| GCST004616_99 | Platelet distribution width | 2.000000e-30 |
| GCST004863_67 | Mosquito bite size | 5.000000e-06 |
| GCST006624_43 | Systolic blood pressure | 6.000000e-14 |
| GCST007045_39 | PR interval | 1.000000e-19 |
| GCST007226_4 | PR interval | 1.000000e-10 |
| GCST007269_56 | Pulse pressure | 2.000000e-08 |
| GCST009462_75 | Optic disc size | 1.000000e-16 |
| GCST010321_146 | PR interval | 4.000000e-35 |
| GCST010703_281 | Brain morphology (MOSTest) | 3.000000e-15 |
| GCST010796_908 | Electrocardiogram morphology (amplitude at temporal datapoints) | 9.000000e-27 |
| GCST010796_909 | Electrocardiogram morphology (amplitude at temporal datapoints) | 1.000000e-25 |
| GCST90002387_134 | Immature fraction of reticulocytes | 2.000000e-11 |
| GCST90002395_155 | Mean platelet volume | 3.000000e-35 |
| GCST90002401_58 | Platelet distribution width | 6.000000e-175 |
| GCST90002401_59 | Platelet distribution width | 3.000000e-09 |
| GCST90002402_214 | Platelet count | 7.000000e-13 |
EFO canonical traits (11, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005095 | PR segment |
| EFO:0005054 | QRS complex |
| EFO:0007742 | QRS amplitude |
| EFO:0007984 | platelet component distribution width |
| EFO:0008378 | mosquito bite reaction size measurement |
| EFO:0006335 | systolic blood pressure |
| EFO:0004462 | PR interval |
| EFO:0005763 | pulse pressure measurement |
| EFO:0004346 | neuroimaging measurement |
| EFO:0004327 | electrocardiography |
| EFO:0004309 | platelet count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
34 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, decreases methylation | 5 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Tretinoin | decreases expression, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | increases activity, affects binding, decreases expression | 1 |
| bisphenol A | affects cotreatment, increases methylation | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| coumarin | affects phosphorylation | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| pentanal | decreases expression | 1 |
| entinostat | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Leflunomide | increases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Caffeine | affects phosphorylation | 1 |
| Carbamazepine | affects expression | 1 |
| Cisplatin | affects cotreatment, decreases expression | 1 |
| Diethylhexyl Phthalate | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Phthalic Acids | decreases methylation | 1 |
| Quercetin | increases expression | 1 |
| Silicon Dioxide | increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.