LMBR1L
gene geneOn this page
Also known as LIMRFLJ10494KIAA1174
Summary
LMBR1L (limb development membrane protein 1 like, HGNC:18268) is a protein-coding gene on chromosome 12q13.12, encoding Protein LMBR1L (Q6UX01). Plays an essential role in lymphocyte development by negatively regulating the canonical Wnt signaling pathway.
Enables transmembrane signaling receptor activity. Involved in receptor-mediated endocytosis and signal transduction. Located in endoplasmic reticulum membrane and plasma membrane.
Source: NCBI Gene 55716 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 82 total — 2 likely-pathogenic
- MANE Select transcript:
NM_018113
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18268 |
| Approved symbol | LMBR1L |
| Name | limb development membrane protein 1 like |
| Location | 12q13.12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | LIMR, FLJ10494, KIAA1174 |
| Ensembl gene | ENSG00000139636 |
| Ensembl biotype | protein_coding |
| OMIM | 610007 |
| Entrez | 55716 |
Gene structure
Transcript identifiers
Ensembl transcripts: 42 — 20 protein_coding, 11 retained_intron, 7 nonsense_mediated_decay, 4 protein_coding_CDS_not_defined
ENST00000267102, ENST00000417750, ENST00000457164, ENST00000547382, ENST00000547670, ENST00000547675, ENST00000547698, ENST00000547813, ENST00000548983, ENST00000549296, ENST00000549429, ENST00000549587, ENST00000549730, ENST00000550137, ENST00000550815, ENST00000550867, ENST00000551115, ENST00000551143, ENST00000551169, ENST00000551272, ENST00000551535, ENST00000551782, ENST00000551854, ENST00000552141, ENST00000552153, ENST00000552449, ENST00000552577, ENST00000552879, ENST00000553040, ENST00000553204, ENST00000892061, ENST00000892062, ENST00000892063, ENST00000892064, ENST00000892065, ENST00000930615, ENST00000930616, ENST00000930617, ENST00000930618, ENST00000930619, ENST00000970441, ENST00000970442
RefSeq mRNA: 11 — MANE Select: NM_018113
NM_001300750, NM_001300751, NM_001352161, NM_001352162, NM_001352163, NM_001352164, NM_001352165, NM_001352166, NM_001352167, NM_001352168, NM_018113
CCDS: CCDS73466, CCDS8780
Canonical transcript exons
ENST00000267102 — 17 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001918834 | 49110484 | 49110847 |
| ENSE00003466132 | 49102120 | 49102196 |
| ENSE00003476286 | 49097139 | 49097739 |
| ENSE00003484518 | 49097944 | 49098105 |
| ENSE00003532876 | 49102887 | 49102951 |
| ENSE00003558521 | 49106961 | 49107045 |
| ENSE00003560299 | 49105924 | 49105957 |
| ENSE00003567655 | 49103091 | 49103159 |
| ENSE00003581849 | 49102468 | 49102540 |
| ENSE00003591489 | 49100388 | 49100454 |
| ENSE00003602894 | 49104746 | 49104885 |
| ENSE00003605520 | 49100556 | 49100646 |
| ENSE00003615010 | 49103687 | 49103813 |
| ENSE00003622790 | 49101472 | 49101549 |
| ENSE00003631612 | 49101250 | 49101323 |
| ENSE00003632989 | 49104448 | 49104551 |
| ENSE00003658420 | 49102293 | 49102376 |
Expression profiles
Bgee: expression breadth ubiquitous, 282 present calls, max score 99.00.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 25.1012 / max 171.8694, expressed in 1811 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 130803 | 13.1608 | 1788 |
| 130804 | 7.8586 | 1697 |
| 130805 | 4.0818 | 1395 |
Top tissues by expression
290 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right testis | UBERON:0004534 | 99.00 | gold quality |
| left testis | UBERON:0004533 | 98.90 | gold quality |
| right uterine tube | UBERON:0001302 | 98.53 | gold quality |
| adenohypophysis | UBERON:0002196 | 98.21 | gold quality |
| mucosa of stomach | UBERON:0001199 | 98.17 | gold quality |
| left ovary | UBERON:0002119 | 98.17 | gold quality |
| tibial nerve | UBERON:0001323 | 98.06 | gold quality |
| body of uterus | UBERON:0009853 | 98.06 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 97.96 | gold quality |
| right ovary | UBERON:0002118 | 97.88 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 97.83 | gold quality |
| endocervix | UBERON:0000458 | 97.77 | gold quality |
| cerebellar cortex | UBERON:0002129 | 97.74 | gold quality |
| pituitary gland | UBERON:0000007 | 97.49 | gold quality |
| ganglionic eminence | UBERON:0004023 | 97.47 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 97.44 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 97.38 | gold quality |
| ectocervix | UBERON:0012249 | 97.27 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 97.26 | gold quality |
| lower esophagus | UBERON:0013473 | 97.25 | gold quality |
| right lung | UBERON:0002167 | 97.23 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 97.23 | gold quality |
| left uterine tube | UBERON:0001303 | 97.14 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 97.13 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 97.09 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 97.08 | gold quality |
| cortical plate | UBERON:0005343 | 97.07 | gold quality |
| granulocyte | CL:0000094 | 97.05 | gold quality |
| adrenal tissue | UBERON:0018303 | 97.00 | gold quality |
| apex of heart | UBERON:0002098 | 96.92 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-9801 | yes | 5.77 |
| E-ANND-3 | yes | 3.20 |
| E-ENAD-17 | no | 301.84 |
| E-GEOD-124858 | no | 22.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
32 targeting LMBR1L, 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-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-25-3P | 99.98 | 74.60 | 1817 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
| HSA-MIR-8075 | 99.97 | 67.20 | 962 |
| HSA-MIR-137-3P | 99.87 | 74.74 | 2401 |
| HSA-MIR-1827 | 99.63 | 68.57 | 3265 |
| HSA-MIR-24-3P | 99.59 | 69.97 | 1934 |
| HSA-MIR-4316 | 99.37 | 65.75 | 1360 |
| HSA-MIR-149-5P | 99.25 | 67.16 | 1315 |
| HSA-MIR-544B | 99.18 | 67.41 | 1632 |
| HSA-MIR-4292 | 99.16 | 65.57 | 1767 |
| HSA-MIR-6791-5P | 99.16 | 65.92 | 1844 |
| HSA-MIR-491-3P | 98.88 | 68.86 | 1224 |
| HSA-MIR-1910-3P | 98.44 | 67.51 | 1695 |
| HSA-MIR-4717-5P | 98.19 | 67.97 | 894 |
| HSA-MIR-6511A-5P | 98.13 | 67.47 | 1770 |
| HSA-MIR-450B-3P | 97.56 | 66.12 | 512 |
| HSA-MIR-96-3P | 97.47 | 68.03 | 839 |
| HSA-MIR-4640-5P | 97.42 | 66.33 | 1543 |
| HSA-MIR-4726-5P | 97.24 | 65.67 | 1299 |
Literature-anchored findings (GeneRIF, showing 6)
- LIMR mediating internalization of lipocalin-1 (Lcn-1) in NT2 cells, leading to its degradation. (PMID:12591932)
- Human LIMR, known to act as an endocytic receptor for lipocalin-1, also binds bovine BLG and mediates its cellular uptake. (PMID:17991420)
- The receptor to which lipocalin binds is termed tear lipocalin-interacting membrane receptor and it appears to work by endocytosis. (PMID:21791187)
- LIMR was shown to be highly specific for Lcn1, binding the lipocalin with low micromolar to high nanomolar affinity (PMID:23964685)
- LMBR1L has an essential function during lymphopoiesis and lymphoid activation, acting as a negative regulator of the Wnt/beta-catenin pathway. (PMID:31073040)
- LMBR1L regulates the proliferation and migration of endothelial cells through Norrin/beta-catenin signaling. (PMID:35146515)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | lmbr1l | ENSDARG00000004745 |
| mus_musculus | Lmbr1l | ENSMUSG00000022999 |
| rattus_norvegicus | Lmbr1l | ENSRNOG00000061607 |
| drosophila_melanogaster | lili | FBGN0027539 |
| caenorhabditis_elegans | WBGENE00019877 |
Paralogs (1): LMBR1 (ENSG00000105983)
Protein
Protein identifiers
Protein LMBR1L — Q6UX01 (reviewed: Q6UX01)
Alternative names: Limb region 1 protein homolog-like, Lipocalin-1-interacting membrane receptor
All UniProt accessions (15): A0A024R0Y9, A0A0S2Z6E3, E7ESX7, Q6UX01, F8VPB1, F8VVE2, F8VYZ9, F8VZU8, F8W054, F8W0N6, F8WE63, H0YHY8, H0YHZ2, H0YI83, H0YIX2
UniProt curated annotations — full annotation on UniProt →
Function. Plays an essential role in lymphocyte development by negatively regulating the canonical Wnt signaling pathway. In association with UBAC2 and E3 ubiquitin-protein ligase AMFR, promotes the ubiquitin-mediated degradation of CTNNB1 and Wnt receptors FZD6 and LRP6. LMBR1L stabilizes the beta-catenin destruction complex that is required for regulating CTNNB1 levels. Acts as a LCN1 receptor and can mediate its endocytosis.
Subunit / interactions. Dimer. Can also form higher oligomers. Interacts with LCN1; this interaction mediates the endocytosis of LCN1. Interacts with UBAC2, FAF2, VCP, AMFR, ZNRF3, CTNNB1, LRP6, GSK3A and GSK3B. Interacts with DVL2 and RNF43. Interaction with SCGB1A1 has been observed in PubMed:16423471, but not in PubMed:23964685. Interaction with LGB which mediates the endocytosis of LGB has been observed in PubMed:17991420, but not in PubMed:23964685.
Subcellular location. Cell membrane. Endoplasmic reticulum membrane.
Tissue specificity. Expressed in testis, pituitary gland, adrenal gland, trachea, placenta, thymus, cerebellum, stomach, mammary gland, spinal cord. A weaker expression is detected in colon, pancreas, and prostate.
Similarity. Belongs to the LIMR family.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6UX01-1 | 1 | yes |
| Q6UX01-2 | 2 | |
| Q6UX01-3 | 3 | |
| Q6UX01-4 | 4 | |
| Q6UX01-5 | 5 |
RefSeq proteins (11): NP_001287679, NP_001287680, NP_001339090, NP_001339091, NP_001339092, NP_001339093, NP_001339094, NP_001339095, NP_001339096, NP_001339097, NP_060583* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006876 | LMBR1-like_membr_prot | Family |
| IPR008075 | LIMR | Family |
Pfam: PF04791
UniProt features (33 total): topological domain 10, transmembrane region 9, sequence conflict 6, splice variant 5, region of interest 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6UX01-F1 | 80.66 | 0.32 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 146 (showing top):
GOBP_HEMATOPOIETIC_PROGENITOR_CELL_DIFFERENTIATION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_REGULATION_OF_WNT_SIGNALING_PATHWAY, GOBP_HEMATOPOIETIC_STEM_CELL_DIFFERENTIATION, GOBP_LEUKOCYTE_PROLIFERATION, RUTELLA_RESPONSE_TO_CSF2RB_AND_IL4_UP, GOBP_CANONICAL_WNT_SIGNALING_PATHWAY, ROZANOV_MMP14_TARGETS_UP, BLALOCK_ALZHEIMERS_DISEASE_UP, MARTIN_VIRAL_GPCR_SIGNALING_DN, RUTELLA_RESPONSE_TO_HGF_VS_CSF2RB_AND_IL4_DN, GOBP_LEUKOCYTE_APOPTOTIC_PROCESS, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, GOBP_STEM_CELL_DIFFERENTIATION
GO Biological Process (9): receptor-mediated endocytosis (GO:0006898), signal transduction (GO:0007165), Wnt signaling pathway (GO:0016055), T cell differentiation (GO:0030217), T cell proliferation (GO:0042098), hematopoietic stem cell differentiation (GO:0060218), T cell apoptotic process (GO:0070231), negative regulation of canonical Wnt signaling pathway (GO:0090090), endocytosis (GO:0006897)
GO Molecular Function (2): transmembrane signaling receptor activity (GO:0004888), protein binding (GO:0005515)
GO Cellular Component (5): endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), endoplasmic reticulum (GO:0005783), endomembrane system (GO:0012505), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| T cell activation | 2 |
| cellular anatomical structure | 2 |
| endocytosis | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| cell surface receptor signaling pathway | 1 |
| lymphocyte differentiation | 1 |
| lymphocyte proliferation | 1 |
| hematopoietic progenitor cell differentiation | 1 |
| stem cell differentiation | 1 |
| lymphocyte apoptotic process | 1 |
| negative regulation of Wnt signaling pathway | 1 |
| canonical Wnt signaling pathway | 1 |
| regulation of canonical Wnt signaling pathway | 1 |
| vesicle budding from membrane | 1 |
| membrane invagination | 1 |
| vesicle-mediated transport | 1 |
| import into cell | 1 |
| signaling receptor activity | 1 |
| binding | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| vacuole | 1 |
| plasma membrane | 1 |
Protein interactions and networks
STRING
2396 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LMBR1L | LCN1 | P31025 | 946 |
| LMBR1L | D6RE68 | D6RE68 | 700 |
| LMBR1L | AHRR | A9YTQ3 | 674 |
| LMBR1L | FAM81A | Q8TBF8 | 503 |
| LMBR1L | DNAJC22 | Q8N4W6 | 490 |
| LMBR1L | PTPN20 | Q4JDL3 | 472 |
| LMBR1L | HTR5A | P47898 | 433 |
| LMBR1L | LMBRD1 | Q9NUN5 | 421 |
| LMBR1L | FKBP10 | Q96AY3 | 418 |
| LMBR1L | KCNK10 | P57789 | 415 |
| LMBR1L | FBXL20 | Q96IG2 | 406 |
| LMBR1L | TOR2A | Q5JU69 | 404 |
| LMBR1L | GRIN3A | Q8TCU5 | 403 |
| LMBR1L | GSTCD | Q8NEC7 | 402 |
| LMBR1L | KMT2E | Q8IZD2 | 401 |
IntAct
10 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | LMBR1L | psi-mi:“MI:0915”(physical association) | 0.370 |
| ECE1 | LMBR1L | psi-mi:“MI:0915”(physical association) | 0.370 |
| CREB3 | LMBR1L | psi-mi:“MI:0915”(physical association) | 0.370 |
| CHRNA4 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC19A2 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| TCTN2 | TMEM120B | psi-mi:“MI:2364”(proximity) | 0.270 |
| TCTN3 | TMEM120B | psi-mi:“MI:2364”(proximity) | 0.270 |
| EVC2 | PGRMC2 | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (955): LMBR1L (Proximity Label-MS), LMBR1L (Proximity Label-MS), LMBR1L (Proximity Label-MS), LMBR1L (Two-hybrid), LMBR1L (Affinity Capture-MS), MAGEA11 (Two-hybrid), LMBR1L (Affinity Capture-Western), LMBR1L (Affinity Capture-Western), LMBR1L (Affinity Capture-Western), LMBR1L (Affinity Capture-Western), LMBR1L (Affinity Capture-Western), LMBR1L (Affinity Capture-Western), LMBR1L (Affinity Capture-Western), SRPRB (Affinity Capture-MS), SRP68 (Affinity Capture-MS)
ESM2 similar proteins: A1A4P6, A1A5B4, A5PK40, A6NDV4, A6NFX1, A6NGC4, A6QL84, A6QLK4, B1AWJ5, B6ID01, E1BY51, P58749, Q2TA01, Q2YDG0, Q32PG7, Q3T9M1, Q4R7X9, Q5HZE5, Q5JZQ7, Q5R6H1, Q5RBY7, Q60HE8, Q6AY05, Q6AYM9, Q6PHN7, Q6TCG5, Q6UX01, Q6UXD7, Q7RTT9, Q7Z403, Q80ZE4, Q8CE47, Q8R139, Q8TBR7, Q96FZ5, Q96HE8, Q96S97, Q9BSA9, Q9BZW5, Q9CQC4
Diamond homologs: Q4R7X9, Q5RBY7, Q5U4X7, Q6UX01, Q7ZUA6, Q7ZX75, Q803C7, Q8WVP7, Q9D1E5, Q9JIT0, Q9VC35
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
82 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 2 |
| Uncertain significance | 65 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1285608 | NM_018113.4(LMBR1L):c.863G>A (p.Arg288Gln) | Likely pathogenic |
| 1285609 | NM_018113.4(LMBR1L):c.862C>T (p.Arg288Trp) | Likely pathogenic |
SpliceAI
2559 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:49097935:C:CA | donor_gain | 1.0000 |
| 12:49101529:C:CT | acceptor_gain | 1.0000 |
| 12:49102192:CTTCT:C | acceptor_gain | 1.0000 |
| 12:49102195:CT:C | acceptor_gain | 1.0000 |
| 12:49102197:C:CC | acceptor_gain | 1.0000 |
| 12:49102464:TTA:T | donor_loss | 1.0000 |
| 12:49102465:TACTA:T | donor_loss | 1.0000 |
| 12:49102466:A:AC | donor_gain | 1.0000 |
| 12:49102466:A:C | donor_loss | 1.0000 |
| 12:49102467:C:CA | donor_gain | 1.0000 |
| 12:49102467:CT:C | donor_gain | 1.0000 |
| 12:49102467:CTA:C | donor_gain | 1.0000 |
| 12:49102467:CTACA:C | donor_gain | 1.0000 |
| 12:49102536:AGCAG:A | acceptor_gain | 1.0000 |
| 12:49102537:GCAG:G | acceptor_gain | 1.0000 |
| 12:49102538:CAG:C | acceptor_gain | 1.0000 |
| 12:49102538:CAGC:C | acceptor_gain | 1.0000 |
| 12:49102539:AG:A | acceptor_gain | 1.0000 |
| 12:49102539:AGCT:A | acceptor_loss | 1.0000 |
| 12:49102540:GCTAG:G | acceptor_loss | 1.0000 |
| 12:49102541:C:CC | acceptor_gain | 1.0000 |
| 12:49102541:C:T | acceptor_loss | 1.0000 |
| 12:49102548:C:CT | acceptor_gain | 1.0000 |
| 12:49102549:A:T | acceptor_gain | 1.0000 |
| 12:49102948:CACA:C | acceptor_gain | 1.0000 |
| 12:49102950:CA:C | acceptor_gain | 1.0000 |
| 12:49102952:C:CC | acceptor_gain | 1.0000 |
| 12:49103089:AC:A | donor_gain | 1.0000 |
| 12:49103090:CC:C | donor_gain | 1.0000 |
| 12:49103157:AGTCT:A | acceptor_loss | 1.0000 |
AlphaMissense
3113 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:49102920:G:C | F221L | 0.999 |
| 12:49102920:G:T | F221L | 0.999 |
| 12:49102922:A:G | F221L | 0.999 |
| 12:49102937:C:G | G216R | 0.999 |
| 12:49100419:G:C | S403R | 0.998 |
| 12:49100419:G:T | S403R | 0.998 |
| 12:49100421:T:G | S403R | 0.998 |
| 12:49100621:C:G | G370R | 0.998 |
| 12:49102937:C:A | G216C | 0.998 |
| 12:49103109:C:G | G205R | 0.998 |
| 12:49103109:C:T | G205R | 0.998 |
| 12:49104770:A:G | W103R | 0.998 |
| 12:49104770:A:T | W103R | 0.998 |
| 12:49098017:A:C | F443L | 0.997 |
| 12:49098017:A:T | F443L | 0.997 |
| 12:49098019:A:G | F443L | 0.997 |
| 12:49100620:C:T | G370D | 0.997 |
| 12:49102936:C:T | G216D | 0.997 |
| 12:49104546:A:G | W113R | 0.997 |
| 12:49104546:A:T | W113R | 0.997 |
| 12:49102942:G:C | P214R | 0.996 |
| 12:49102942:G:T | P214Q | 0.996 |
| 12:49104497:G:C | P129R | 0.996 |
| 12:49104768:C:A | W103C | 0.996 |
| 12:49104768:C:G | W103C | 0.996 |
| 12:49104813:G:C | S88R | 0.996 |
| 12:49104813:G:T | S88R | 0.996 |
| 12:49104815:T:G | S88R | 0.996 |
| 12:49104829:G:C | P83R | 0.996 |
| 12:49104873:G:C | C68W | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000146181 (12:49098649 A>G), RS1000322578 (12:49111531 G>A), RS1000760827 (12:49097402 G>C), RS1000815726 (12:49109990 C>T), RS1000866048 (12:49099823 C>T), RS1000931238 (12:49110224 A>G,T), RS1001102807 (12:49103929 G>A), RS1001146620 (12:49100164 G>A,C), RS1001379480 (12:49112542 G>A), RS1001767551 (12:49106200 A>C,G), RS1002360574 (12:49107695 C>A), RS1002528613 (12:49100280 A>G), RS1002769063 (12:49100038 G>A), RS1002819262 (12:49112370 CCG>C), RS1003155772 (12:49103243 G>A,C)
Disease associations
OMIM: gene MIM:610007 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST008103_109 | Bipolar disorder | 4.000000e-06 |
| GCST010703_9 | Brain morphology (MOSTest) | 8.000000e-10 |
| GCST010989_40 | Body size at age 10 | 9.000000e-19 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004346 | neuroimaging measurement |
| EFO:0009819 | comparative body size at age 10, self-reported |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
18 total (human), top 18 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects cotreatment, decreases methylation, increases expression, decreases expression | 3 |
| bisphenol F | affects cotreatment, decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| sodium arsenite | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| abrine | increases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
| Indomethacin | decreases expression, affects cotreatment | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Smoke | decreases expression | 1 |
| Tretinoin | increases expression | 1 |
| Urethane | increases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, decreases expression | 1 |
Cellosaurus cell lines
3 cell lines: 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E2B6 | HAP1 LMBR1L (-) 1 | Cancer cell line | Male |
| CVCL_E2B7 | HAP1 LMBR1L (-) 2 | Cancer cell line | Male |
| CVCL_E2B8 | HAP1 LMBR1L (-) 3 | Cancer cell line | Male |
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.