CLMN
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Also known as FLJ12383KIAA1188KIAA0500
Summary
CLMN (calmin, HGNC:19972) is a protein-coding gene on chromosome 14q32.13, encoding Calmin (Q96JQ2).
Predicted to enable actin filament binding activity. Predicted to be involved in negative regulation of cell population proliferation. Predicted to act upstream of or within neuron projection development. Predicted to be located in membrane. Predicted to be part of meiotic nuclear membrane microtubule tethering complex. Predicted to be active in cytoplasm and nuclear outer membrane.
Source: NCBI Gene 79789 — RefSeq curated summary.
At a glance
- GWAS associations: 10
- Clinical variants (ClinVar): 220 total
- MANE Select transcript:
NM_024734
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:19972 |
| Approved symbol | CLMN |
| Name | calmin |
| Location | 14q32.13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ12383, KIAA1188, KIAA0500 |
| Ensembl gene | ENSG00000165959 |
| Ensembl biotype | protein_coding |
| OMIM | 611121 |
| Entrez | 79789 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 6 protein_coding, 3 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000298912, ENST00000553733, ENST00000555336, ENST00000555615, ENST00000556416, ENST00000556441, ENST00000556454, ENST00000557215, ENST00000557696, ENST00000869560, ENST00000941995
RefSeq mRNA: 1 — MANE Select: NM_024734
NM_024734
CCDS: CCDS9933
Canonical transcript exons
ENST00000298912 — 13 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001098464 | 95215641 | 95215733 |
| ENSE00001098491 | 95221691 | 95221774 |
| ENSE00001098542 | 95213219 | 95213409 |
| ENSE00001168923 | 95210686 | 95210879 |
| ENSE00001312578 | 95181940 | 95191732 |
| ENSE00001327160 | 95319711 | 95319908 |
| ENSE00003463993 | 95230072 | 95230133 |
| ENSE00003507005 | 95223760 | 95223855 |
| ENSE00003526953 | 95196498 | 95196694 |
| ENSE00003531313 | 95194536 | 95194596 |
| ENSE00003576300 | 95202838 | 95204463 |
| ENSE00003628404 | 95209395 | 95209477 |
| ENSE00003629809 | 95193849 | 95193919 |
Expression profiles
Bgee: expression breadth ubiquitous, 275 present calls, max score 98.86.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.9064 / max 291.2049, expressed in 1232 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 144783 | 8.1433 | 1180 |
| 144782 | 1.5792 | 610 |
| 144784 | 0.1839 | 81 |
Top tissues by expression
294 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sperm | CL:0000019 | 98.86 | gold quality |
| male germ cell | CL:0000015 | 96.79 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 96.54 | gold quality |
| bronchial epithelial cell | CL:0002328 | 95.85 | gold quality |
| left testis | UBERON:0004533 | 95.58 | gold quality |
| right testis | UBERON:0004534 | 95.48 | gold quality |
| renal medulla | UBERON:0000362 | 94.75 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 94.61 | gold quality |
| corpus callosum | UBERON:0002336 | 94.35 | gold quality |
| sural nerve | UBERON:0015488 | 94.14 | gold quality |
| bronchus | UBERON:0002185 | 94.12 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 93.28 | gold quality |
| testis | UBERON:0000473 | 93.27 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 92.81 | gold quality |
| colonic mucosa | UBERON:0000317 | 92.37 | gold quality |
| body of pancreas | UBERON:0001150 | 92.11 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 91.73 | gold quality |
| metanephros cortex | UBERON:0010533 | 90.96 | gold quality |
| dorsal motor nucleus of vagus nerve | UBERON:0002870 | 90.70 | gold quality |
| globus pallidus | UBERON:0001875 | 90.58 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 90.44 | gold quality |
| medial globus pallidus | UBERON:0002477 | 90.34 | gold quality |
| buccal mucosa cell | CL:0002336 | 90.21 | gold quality |
| nephron tubule | UBERON:0001231 | 89.99 | gold quality |
| pancreas | UBERON:0001264 | 89.70 | gold quality |
| inferior olivary complex | UBERON:0002127 | 89.64 | gold quality |
| kidney | UBERON:0002113 | 89.20 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 89.12 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 89.10 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 89.09 | gold quality |
Single-cell (SCXA)
Detected in 6 experiment(s), a significant marker in 5.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-35 | yes | 72.68 |
| E-ANND-3 | yes | 14.73 |
| E-CURD-119 | yes | 14.03 |
| E-GEOD-134144 | yes | 7.93 |
| E-ENAD-27 | yes | 7.08 |
| E-CURD-11 | no | 113.86 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
306 targeting CLMN, 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-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3925-3P | 100.00 | 69.95 | 1237 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| 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-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-3120-5P | 100.00 | 65.56 | 965 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | clmnb | ENSDARG00000043667 |
| danio_rerio | clmna | ENSDARG00000096867 |
| mus_musculus | Clmn | ENSMUSG00000021097 |
| rattus_norvegicus | Clmn | ENSRNOG00000011044 |
Paralogs (36): SYNE2 (ENSG00000054654), SPTB (ENSG00000070182), ACTN1 (ENSG00000072110), ACTN2 (ENSG00000077522), DSP (ENSG00000096696), DRP2 (ENSG00000102385), SPTBN1 (ENSG00000115306), MACF1 (ENSG00000127603), FLNC (ENSG00000128591), ACTN4 (ENSG00000130402), SYNE1 (ENSG00000131018), MICAL2 (ENSG00000133816), DTNA (ENSG00000134769), MICAL1 (ENSG00000135596), FLNB (ENSG00000136068), SPTBN5 (ENSG00000137877), DTNB (ENSG00000138101), GAS2L3 (ENSG00000139354), DST (ENSG00000151914), UTRN (ENSG00000152818), SPTBN4 (ENSG00000160460), SPTA1 (ENSG00000163554), PKHD1 (ENSG00000170927), SPTBN2 (ENSG00000173898), SYNE3 (ENSG00000176438), PLEC (ENSG00000178209), SMTNL2 (ENSG00000188176), FLNA (ENSG00000196924), SPTAN1 (ENSG00000197694), DMD (ENSG00000198947), PKHD1L1 (ENSG00000205038), DYTN (ENSG00000232125), MICAL3 (ENSG00000243156), ACTN3 (ENSG00000248746), EPPK1 (ENSG00000261150), GAS2L2 (ENSG00000270765)
Protein
Protein identifiers
Calmin — Q96JQ2 (reviewed: Q96JQ2)
Alternative names: Calponin-like transmembrane domain protein
All UniProt accessions (5): Q96JQ2, G3V3D8, G3V4C0, G3V5E0, G3V5U3
UniProt curated annotations — full annotation on UniProt →
Subcellular location. Membrane.
Tissue specificity. Widely expressed at intermediate level.
RefSeq proteins (1): NP_079010* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001589 | Actinin_actin-bd_CS | Conserved_site |
| IPR001715 | CH_dom | Domain |
| IPR036872 | CH_dom_sf | Homologous_superfamily |
| IPR047826 | CLMN_CH_second | Domain |
| IPR047827 | CLMN_CH_first | Domain |
| IPR052403 | LINC-complex_assoc | Family |
Pfam: PF00307
UniProt features (35 total): compositionally biased region 13, modified residue 9, region of interest 6, domain 2, sequence conflict 2, chain 1, transmembrane region 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96JQ2-F1 | 52.84 | 0.18 |
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 (9): 301, 402, 619, 699, 713, 769, 838, 841, 907
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 187 (showing top):
TAKEDA_TARGETS_OF_NUP98_HOXA9_FUSION_6HR_DN, GOBP_NEUROGENESIS, DELYS_THYROID_CANCER_DN, GOBP_NUCLEUS_LOCALIZATION, CAIRO_HEPATOBLASTOMA_UP, GFI1_01, GOMF_ACTIN_BINDING, NRF2_01, GOBP_CELL_PROJECTION_ORGANIZATION, ROSS_AML_WITH_PML_RARA_FUSION, GOBP_ORGANELLE_LOCALIZATION, chr14q32, YNGTTNNNATT_UNKNOWN, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN, MULLIGHAN_MLL_SIGNATURE_2_DN
GO Biological Process (3): nuclear migration (GO:0007097), negative regulation of cell population proliferation (GO:0008285), neuron projection development (GO:0031175)
GO Molecular Function (3): actin filament binding (GO:0051015), actin binding (GO:0003779), protein binding (GO:0005515)
GO Cellular Component (4): nuclear outer membrane (GO:0005640), cytoplasm (GO:0005737), meiotic nuclear membrane microtubule tethering complex (GO:0034993), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| intracellular transport | 1 |
| nucleus localization | 1 |
| establishment of organelle localization | 1 |
| cell population proliferation | 1 |
| regulation of cell population proliferation | 1 |
| negative regulation of cellular process | 1 |
| neuron development | 1 |
| plasma membrane bounded cell projection organization | 1 |
| actin binding | 1 |
| protein-containing complex binding | 1 |
| cytoskeletal protein binding | 1 |
| binding | 1 |
| nuclear membrane | 1 |
| organelle outer membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| intracellular anatomical structure | 1 |
| microtubule organizing center attachment site | 1 |
| nuclear membrane microtubule tethering complex | 1 |
Protein interactions and networks
STRING
850 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CLMN | KIF6 | Q6ZMV9 | 447 |
| CLMN | EFL1 | Q7Z2Z2 | 426 |
| CLMN | EMD | P50402 | 423 |
| CLMN | AFAP1L2 | Q8N4X5 | 414 |
| CLMN | ERICH6B | Q5W0A0 | 409 |
| CLMN | NRAP | Q86VF7 | 409 |
| CLMN | LRRIQ3 | A6PVS8 | 402 |
| CLMN | UBXN7 | O94888 | 396 |
| CLMN | CYP24A1 | Q07973 | 392 |
| CLMN | COPB1 | P53618 | 384 |
| CLMN | TESC | Q96BS2 | 380 |
| CLMN | STRBP | Q96SI9 | 378 |
| CLMN | A1CF | Q9NQ94 | 377 |
| CLMN | SERPINB1 | P30740 | 375 |
| CLMN | FAM234B | A2RU67 | 372 |
IntAct
31 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| ANXA9 | PPL | psi-mi:“MI:0914”(association) | 0.660 |
| YWHAG | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.640 |
| ADCY9 | NEMP1 | psi-mi:“MI:0914”(association) | 0.640 |
| YWHAH | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.570 |
| DYNLT2B | SNX2 | psi-mi:“MI:0914”(association) | 0.530 |
| HSCB | RBP5 | psi-mi:“MI:0914”(association) | 0.350 |
| COPB2 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| CTNNB1 | TCERG1 | psi-mi:“MI:0914”(association) | 0.350 |
| RTN4 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| UBB | RNF40 | psi-mi:“MI:0914”(association) | 0.350 |
| AP2M1 | C1orf226 | psi-mi:“MI:0914”(association) | 0.350 |
| FPR1 | GPR89A | psi-mi:“MI:0914”(association) | 0.350 |
| PPL | UBR5 | psi-mi:“MI:0914”(association) | 0.350 |
| UBL4B | FECH | psi-mi:“MI:0914”(association) | 0.350 |
| CLMN | UQCC4 | psi-mi:“MI:0914”(association) | 0.350 |
| GPR182 | SLC12A8 | psi-mi:“MI:0914”(association) | 0.350 |
| AP2M1 | PER1 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC67A1 | LTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC2A2 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC7A11 | PSMD9 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC7A9 | CDC7 | psi-mi:“MI:0914”(association) | 0.350 |
| CANX | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| CDH1 | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| SFN | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.270 |
| CLMN | FHL1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (101): CLMN (Proximity Label-MS), CLMN (Affinity Capture-MS), CLMN (Affinity Capture-RNA), CLMN (Affinity Capture-MS), CLMN (Proximity Label-MS), CLMN (Affinity Capture-RNA), CLMN (Protein-RNA), CLMN (Proximity Label-MS), CLMN (Proximity Label-MS), CLMN (Proximity Label-MS), CLMN (Proximity Label-MS), CLMN (Proximity Label-MS), CLMN (Proximity Label-MS), CLMN (Proximity Label-MS), CLMN (Two-hybrid)
ESM2 similar proteins: A0A1B0GVH6, A0A1L8H8C0, A0A1L8HFX9, A0A2R6X6S3, A0JM08, A0MS83, A2BIL8, A2RUV4, E9Q309, F1MCY2, F1QIC4, P46012, Q08D57, Q1LY77, Q498L0, Q4KMC9, Q501J7, Q52KW0, Q5DTJ9, Q5F3P8, Q5RAU1, Q5SW79, Q5T5U3, Q5VT06, Q62417, Q62770, Q66J90, Q69Z38, Q6A065, Q6DFG0, Q6DFV3, Q6FWU4, Q71M21, Q80TN7, Q86TC9, Q8AV28, Q8C5W0, Q8IVL0, Q8IZ21, Q8K0T7
Diamond homologs: A5D7D1, D3ZEN0, D3ZHA0, D3ZHV2, D3ZQL6, E1BBG2, F1MF74, F1RA39, F6QZ15, G3MWR8, G3V7L1, L7UZ85, M9MRD1, O13728, O15020, O43707, O75369, O76329, O88990, O94851, O97592, P05094, P05095, P07751, P11277, P11530, P11531, P11532, P11533, P12814, P13395, P13466, P15508, P16086, P16546, P18091, P20111, P21333, P30427, P35609
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 41 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| G2/M Checkpoints | 5 | 21.0× | 8e-04 |
| SARS-CoV Infections | 5 | 8.7× | 7e-03 |
| Infectious disease | 7 | 5.4× | 7e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
220 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 153 |
| Likely benign | 29 |
| Benign | 15 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2897 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 14:95193321:T:A | donor_gain | 1.0000 |
| 14:95193330:T:TA | donor_gain | 1.0000 |
| 14:95194530:A:AC | donor_gain | 1.0000 |
| 14:95194531:C:CC | donor_gain | 1.0000 |
| 14:95194531:CTAA:C | donor_gain | 1.0000 |
| 14:95194532:TAA:T | donor_loss | 1.0000 |
| 14:95194533:AAC:A | donor_loss | 1.0000 |
| 14:95194534:A:AC | donor_gain | 1.0000 |
| 14:95194534:A:C | donor_loss | 1.0000 |
| 14:95194535:C:A | donor_loss | 1.0000 |
| 14:95194535:C:CC | donor_gain | 1.0000 |
| 14:95194592:TAGTC:T | acceptor_gain | 1.0000 |
| 14:95194594:GTC:G | acceptor_gain | 1.0000 |
| 14:95194595:TC:T | acceptor_gain | 1.0000 |
| 14:95194596:CC:C | acceptor_gain | 1.0000 |
| 14:95194596:CCTGA:C | acceptor_loss | 1.0000 |
| 14:95194597:C:CC | acceptor_gain | 1.0000 |
| 14:95196495:TACCT:T | donor_loss | 1.0000 |
| 14:95196496:AC:A | donor_loss | 1.0000 |
| 14:95196497:C:G | donor_loss | 1.0000 |
| 14:95196690:TGGGA:T | acceptor_gain | 1.0000 |
| 14:95196691:GGGA:G | acceptor_gain | 1.0000 |
| 14:95196692:GGA:G | acceptor_gain | 1.0000 |
| 14:95196693:GA:G | acceptor_gain | 1.0000 |
| 14:95196695:C:CC | acceptor_gain | 1.0000 |
| 14:95209393:A:AC | donor_gain | 1.0000 |
| 14:95209394:C:CC | donor_gain | 1.0000 |
| 14:95209394:CGG:C | donor_gain | 1.0000 |
| 14:95209399:T:TA | donor_gain | 1.0000 |
| 14:95209478:C:CC | acceptor_gain | 1.0000 |
AlphaMissense
6681 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 14:95191620:A:G | W985R | 0.999 |
| 14:95191620:A:T | W985R | 0.999 |
| 14:95210845:A:G | W215R | 0.999 |
| 14:95210845:A:T | W215R | 0.999 |
| 14:95215669:A:G | L130P | 0.999 |
| 14:95221713:A:G | L101P | 0.999 |
| 14:95221739:A:C | F92L | 0.999 |
| 14:95221739:A:T | F92L | 0.999 |
| 14:95221741:A:G | F92L | 0.999 |
| 14:95230095:A:G | W41R | 0.999 |
| 14:95230095:A:T | W41R | 0.999 |
| 14:95210836:C:A | G218W | 0.998 |
| 14:95215664:A:G | W132R | 0.998 |
| 14:95215664:A:T | W132R | 0.998 |
| 14:95221704:A:G | L104S | 0.998 |
| 14:95221734:A:G | L94S | 0.998 |
| 14:95223806:C:A | G65V | 0.998 |
| 14:95210835:C:T | G218E | 0.997 |
| 14:95210843:C:A | W215C | 0.997 |
| 14:95210843:C:G | W215C | 0.997 |
| 14:95215702:A:C | I119R | 0.997 |
| 14:95215702:A:T | I119K | 0.997 |
| 14:95221706:A:C | F103L | 0.997 |
| 14:95221706:A:T | F103L | 0.997 |
| 14:95221708:A:G | F103L | 0.997 |
| 14:95221725:A:T | I97K | 0.997 |
| 14:95221727:G:C | N96K | 0.997 |
| 14:95221727:G:T | N96K | 0.997 |
| 14:95221740:A:G | F92S | 0.997 |
| 14:95223806:C:T | G65D | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000036213 (14:95186546 G>A), RS1000057528 (14:95185419 C>T), RS1000063679 (14:95243977 T>C), RS1000089567 (14:95289743 TG>T), RS1000095017 (14:95193252 A>G), RS1000103571 (14:95306732 A>T), RS1000134013 (14:95214187 A>G,T), RS1000153544 (14:95321038 T>C), RS1000154858 (14:95267655 C>A), RS1000161869 (14:95210914 G>A), RS1000204315 (14:95257164 C>T), RS1000262012 (14:95248624 T>C), RS1000284180 (14:95285560 G>A), RS1000330687 (14:95259241 T>C), RS1000332195 (14:95317476 G>A)
Disease associations
OMIM: gene MIM:611121 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
10 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000618_26 | Response to antipsychotic treatment | 2.000000e-07 |
| GCST000635_26 | Response to statin therapy | 2.000000e-08 |
| GCST001585_36 | Breast size | 8.000000e-07 |
| GCST001915_33 | Alzheimer’s disease (cognitive decline) | 2.000000e-08 |
| GCST002805_2 | Body mass index | 9.000000e-07 |
| GCST003854_23 | Gut microbiota (functional units) | 4.000000e-08 |
| GCST004068_36 | Venous thromboembolism adjusted for sickle cell variant rs77121243-T | 5.000000e-06 |
| GCST006190_65 | Diastolic blood pressure x smoking status (ever vs never) interaction (2df test) | 9.000000e-10 |
| GCST009391_416 | Metabolite levels | 7.000000e-06 |
| GCST010396_152 | Gut microbiota (bacterial taxa, hurdle binary method) | 2.000000e-06 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005937 | longitudinal BMI measurement |
| EFO:0007874 | gut microbiome measurement |
| EFO:0006336 | diastolic blood pressure |
| EFO:0006527 | smoking status measurement |
| EFO:0010387 | phosphatidylcholine 38:5 measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs8014194 | CLMN | 0.00 | 0 |
CTD chemical–gene interactions
69 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, affects expression, decreases methylation, increases expression, affects cotreatment | 5 |
| sodium arsenite | decreases expression, increases expression | 5 |
| Benzo(a)pyrene | decreases methylation, increases expression, affects methylation, decreases expression | 5 |
| Estradiol | decreases expression, increases reaction, affects cotreatment, increases expression | 5 |
| Valproic Acid | decreases methylation, increases expression, affects expression | 4 |
| bisphenol S | increases expression, affects cotreatment, decreases expression | 3 |
| Air Pollutants | increases abundance, increases expression, decreases expression | 3 |
| Calcitriol | affects cotreatment, increases expression, increases reaction | 3 |
| Smoke | increases abundance, increases expression, decreases expression | 3 |
| Tobacco Smoke Pollution | decreases expression, affects expression | 3 |
| Tretinoin | decreases reaction, increases expression, decreases expression | 3 |
| trichostatin A | increases expression, affects expression | 2 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 2 |
| Fulvestrant | affects cotreatment, increases methylation, increases expression | 2 |
| Acetaminophen | decreases expression | 2 |
| Dexamethasone | increases expression, affects cotreatment, decreases expression | 2 |
| Nickel | decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| Aflatoxin B1 | affects expression, increases methylation | 2 |
| Particulate Matter | decreases expression, increases abundance, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| bisphenol F | affects cotreatment, increases methylation | 1 |
| bufotalin | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| 2,5,2’,5’-tetrachlorobiphenyl | decreases expression | 1 |
| tris(2-butoxyethyl) phosphate | decreases expression | 1 |
| mono-(2-ethylhexyl)phthalate | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): venous thromboembolism