CMTM3
gene geneOn this page
Also known as FLJ31762BNAS2
Summary
CMTM3 (CKLF like MARVEL transmembrane domain containing 3, HGNC:19174) is a protein-coding gene on chromosome 16q22.1, encoding CKLF-like MARVEL transmembrane domain-containing protein 3 (Q96MX0).
This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and the transmembrane 4 superfamilies of signaling molecules. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 16. Alternatively spliced transcript variants containing different 5’ UTRs, but encoding the same protein, have been identified.
Source: NCBI Gene 123920 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 28 total
- MANE Select transcript:
NM_181553
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:19174 |
| Approved symbol | CMTM3 |
| Name | CKLF like MARVEL transmembrane domain containing 3 |
| Location | 16q22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ31762, BNAS2 |
| Ensembl gene | ENSG00000140931 |
| Ensembl biotype | protein_coding |
| OMIM | 607886 |
| Entrez | 123920 |
Gene structure
Transcript identifiers
Ensembl transcripts: 25 — 23 protein_coding, 1 retained_intron, 1 nonsense_mediated_decay
ENST00000361909, ENST00000424011, ENST00000460097, ENST00000562357, ENST00000562707, ENST00000563672, ENST00000564060, ENST00000564247, ENST00000565003, ENST00000565666, ENST00000565922, ENST00000566121, ENST00000566756, ENST00000567572, ENST00000568477, ENST00000885751, ENST00000885752, ENST00000885753, ENST00000885754, ENST00000885755, ENST00000918764, ENST00000918765, ENST00000967212, ENST00000967213, ENST00000967214
RefSeq mRNA: 4 — MANE Select: NM_181553
NM_001363918, NM_001363923, NM_144601, NM_181553
CCDS: CCDS10815
Canonical transcript exons
ENST00000567572 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000945627 | 66609435 | 66609530 |
| ENSE00001517518 | 66612609 | 66613887 |
| ENSE00002587833 | 66604704 | 66604952 |
| ENSE00003461182 | 66609883 | 66610003 |
| ENSE00003533463 | 66608309 | 66608464 |
Expression profiles
Bgee: expression breadth ubiquitous, 237 present calls, max score 96.91.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 34.3917 / max 238.5133, expressed in 1786 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 154525 | 16.6217 | 1709 |
| 154526 | 15.4649 | 1715 |
| 154524 | 0.8418 | 317 |
| 154528 | 0.6653 | 428 |
| 154527 | 0.4111 | 232 |
| 154523 | 0.3870 | 188 |
Top tissues by expression
251 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| granulocyte | CL:0000094 | 96.91 | gold quality |
| leukocyte | CL:0000738 | 95.62 | gold quality |
| monocyte | CL:0000576 | 95.51 | gold quality |
| right testis | UBERON:0004534 | 95.48 | gold quality |
| stromal cell of endometrium | CL:0002255 | 95.31 | gold quality |
| left testis | UBERON:0004533 | 95.22 | gold quality |
| gall bladder | UBERON:0002110 | 94.83 | gold quality |
| testis | UBERON:0000473 | 94.14 | gold quality |
| blood | UBERON:0000178 | 94.00 | gold quality |
| right lung | UBERON:0002167 | 93.81 | gold quality |
| endocervix | UBERON:0000458 | 93.36 | gold quality |
| decidua | UBERON:0002450 | 93.31 | gold quality |
| right ovary | UBERON:0002118 | 93.17 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 92.89 | gold quality |
| omental fat pad | UBERON:0010414 | 92.84 | gold quality |
| peritoneum | UBERON:0002358 | 92.81 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 92.59 | gold quality |
| tibial nerve | UBERON:0001323 | 92.50 | gold quality |
| left ovary | UBERON:0002119 | 92.36 | gold quality |
| vermiform appendix | UBERON:0001154 | 92.25 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 91.99 | gold quality |
| left uterine tube | UBERON:0001303 | 91.96 | gold quality |
| lymph node | UBERON:0000029 | 91.70 | gold quality |
| amniotic fluid | UBERON:0000173 | 91.61 | gold quality |
| right coronary artery | UBERON:0001625 | 91.56 | gold quality |
| pericardium | UBERON:0002407 | 91.56 | gold quality |
| adipose tissue | UBERON:0001013 | 91.52 | gold quality |
| cartilage tissue | UBERON:0002418 | 91.48 | gold quality |
| ectocervix | UBERON:0012249 | 91.23 | gold quality |
| mucosa of stomach | UBERON:0001199 | 91.21 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8271 | yes | 14.98 |
| E-ANND-3 | yes | 9.95 |
| E-GEOD-100618 | no | 220.37 |
| E-CURD-112 | no | 2.60 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
65 targeting CMTM3, 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-6888-3P | 99.97 | 65.95 | 1170 |
| HSA-MIR-4760-3P | 99.93 | 70.50 | 2385 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
| HSA-MIR-4648 | 99.91 | 67.00 | 710 |
| HSA-MIR-548AR-3P | 99.85 | 71.26 | 3889 |
| HSA-MIR-629-3P | 99.85 | 67.99 | 1875 |
| HSA-MIR-548AZ-3P | 99.82 | 70.56 | 3549 |
| HSA-MIR-548BC | 99.82 | 70.61 | 3524 |
| HSA-MIR-548E-3P | 99.82 | 70.59 | 3514 |
| HSA-MIR-548F-3P | 99.82 | 70.59 | 3540 |
| HSA-MIR-4639-5P | 99.81 | 67.37 | 1028 |
| HSA-MIR-3150A-3P | 99.76 | 64.44 | 1640 |
| HSA-MIR-6763-5P | 99.76 | 64.68 | 1767 |
| HSA-MIR-548A-3P | 99.76 | 70.58 | 3524 |
| HSA-MIR-3680-3P | 99.75 | 72.51 | 3095 |
| HSA-MIR-4766-5P | 99.75 | 69.23 | 2662 |
| HSA-MIR-1976 | 99.74 | 65.48 | 1127 |
| HSA-MIR-29B-2-5P | 99.67 | 68.98 | 1726 |
| HSA-MIR-3175 | 99.65 | 66.30 | 2031 |
| HSA-MIR-4743-3P | 99.62 | 68.12 | 2095 |
| HSA-MIR-24-3P | 99.59 | 69.97 | 1934 |
| HSA-MIR-4316 | 99.37 | 65.75 | 1360 |
| HSA-MIR-377-3P | 99.37 | 70.18 | 1905 |
| HSA-MIR-135A-5P | 99.36 | 71.85 | 1601 |
| HSA-MIR-135B-5P | 99.36 | 71.63 | 1613 |
| HSA-MIR-3606-5P | 99.31 | 69.67 | 1168 |
| HSA-MIR-4505 | 99.27 | 67.81 | 2678 |
| HSA-MIR-3064-5P | 99.26 | 66.13 | 1497 |
| HSA-MIR-3085-3P | 99.26 | 66.16 | 1490 |
| HSA-MIR-6504-5P | 99.26 | 65.95 | 1487 |
Literature-anchored findings (GeneRIF, showing 17)
- Bioinformatics based on CKLF2 cDNA and protein sequences in combination with experimental validation identified CKLFSF1-8 gene clusters, between the SCY and the TM4SF gene families. The 8 family members were cloned and characterized. (PMID:12782130)
- CMTM3/CKLFSF3 is an evolutionarily conserved gene that may have important roles in the male reproductive system and immune system. (PMID:17002874)
- CMTM3 inhibits prostate-specific antigen expression at both mRNA and protein levels with no obvious influence on androgen receptor expression. (PMID:18402773)
- CMTM3 is significantly down-regulated in clear cell renal cell carcinoma and exerts remarkable tumor-suppressive functions (PMID:23907292)
- Peritoneal disseminated metastases were significantly suppressed by CMTM3. (PMID:24131472)
- CMTM1 and 3 are priority targets in glioblastomas. First insights into signalling of these two genes that might be conveyed by growth factor receptor, Src family kinase and WNT activation was presented. (PMID:25931111)
- Low expression of CMTM3 was associated with metastasis and recurrence of oral squamous cell carcinoma. (PMID:25946973)
- Reduced expression of CMTM3 is associated with prostate cancer. (PMID:25990505)
- this study demonstrates that knockdown of CMTM3 promotes the metastasis of gastric cancer through the STAT3/Twist1/EMT pathway (PMID:27121055)
- identified CMTM3 as a novel secretory protein released via exosomes in the prostate (PMID:27125975)
- study indicates that elevated CMTM3 methylation is a risk factor in male LSCC patients, especially in the patients with age over 55years and with smoking behavior (PMID:27521994)
- Overexpression of CMTM3 attenuated the tumor growth of hepatocellular carcinoma. (PMID:27629543)
- CMTM3 decreases EGFR expression, facilitates EGFR degradation, and inhibits the EGF-mediated tumorigenicity of gastric cancer cells by enhancing Rab5 activity. (PMID:27867015)
- CMTM3 mediates cell-cell adhesion at adherens junctions and contributes to the control of vascular sprouting by regulation VE-cadherin turnover. (PMID:28428220)
- CMTM3 was significantly hypermethylated in colorectal cancer tissues when compared with adjacent normal colorectal tissues. (PMID:28782576)
- CMTM3 exhibited a lower expression pattern in gastric cancer tissues.MiR-135b-5p promotes gastric cancer progression by targeting CMTM3. (PMID:29345297)
- Familial hypereosinophilia associated with eosinophilic gastrointestinal symptoms in individuals with a missense mutation in CKLF-like MARVEL transmembrane domain containing 3. (PMID:34048099)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cmtm3 | ENSDARG00000008811 |
| mus_musculus | Cmtm3 | ENSMUSG00000031875 |
| rattus_norvegicus | Cmtm3 | ENSRNOG00000010691 |
| caenorhabditis_elegans | F28H1.4 | WBGENE00017909 |
| caenorhabditis_elegans | F47B3.3 | WBGENE00018527 |
Paralogs (14): CMTM1 (ENSG00000089505), CMTM6 (ENSG00000091317), PLP2 (ENSG00000102007), PLLP (ENSG00000102934), CMTM2 (ENSG00000140932), MALL (ENSG00000144063), MAL2 (ENSG00000147676), CMTM7 (ENSG00000153551), MARVELD1 (ENSG00000155254), CMTM5 (ENSG00000166091), CMTM8 (ENSG00000170293), MAL (ENSG00000172005), CMTM4 (ENSG00000183723), CKLF (ENSG00000217555)
Protein
Protein identifiers
CKLF-like MARVEL transmembrane domain-containing protein 3 — Q96MX0 (reviewed: Q96MX0)
Alternative names: Chemokine-like factor superfamily member 3
All UniProt accessions (8): Q96MX0, H3BN06, H3BU39, H3BUD5, I3L3C2, I3L540, J3KSM1, J3KSR6
UniProt curated annotations — full annotation on UniProt →
Subcellular location. Membrane.
Tissue specificity. Expressed in the leukocytes, placenta and testis.
Similarity. Belongs to the chemokine-like factor family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96MX0-1 | 1 | yes |
| Q96MX0-2 | 2 |
RefSeq proteins (4): NP_001350847, NP_001350852, NP_653202, NP_853531* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR008253 | Marvel | Domain |
| IPR050578 | MARVEL-CKLF_proteins | Family |
Pfam: PF01284
UniProt features (9 total): transmembrane region 3, splice variant 2, chain 1, domain 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96MX0-F1 | 79.99 | 0.44 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 191 (showing top):
GOBP_REGULATION_OF_B_CELL_RECEPTOR_SIGNALING_PATHWAY, GOBP_REGULATION_OF_ANTIGEN_RECEPTOR_MEDIATED_SIGNALING_PATHWAY, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, chr16q22, GOBP_ANTIGEN_RECEPTOR_MEDIATED_SIGNALING_PATHWAY, GOBP_TAXIS, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_BLUE_DN, GOBP_IN_UTERO_EMBRYONIC_DEVELOPMENT, CHARAFE_BREAST_CANCER_BASAL_VS_MESENCHYMAL_DN, GOBP_POSITIVE_REGULATION_OF_ANTIGEN_RECEPTOR_MEDIATED_SIGNALING_PATHWAY, GOBP_BLASTOCYST_DEVELOPMENT, TANAKA_METHYLATED_IN_ESOPHAGEAL_CARCINOMA, GOMF_CYTOKINE_ACTIVITY, GOBP_EMBRYO_DEVELOPMENT
GO Biological Process (4): blastocyst hatching (GO:0001835), chemotaxis (GO:0006935), positive regulation of B cell receptor signaling pathway (GO:0050861), signal transduction (GO:0007165)
GO Molecular Function (2): cytokine activity (GO:0005125), protein binding (GO:0005515)
GO Cellular Component (6): obsolete extracellular space (GO:0005615), cytosol (GO:0005829), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410), nuclear membrane (GO:0031965), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| cytoplasm | 2 |
| blastocyst development | 1 |
| hatching | 1 |
| response to chemical | 1 |
| taxis | 1 |
| B cell receptor signaling pathway | 1 |
| regulation of B cell receptor signaling pathway | 1 |
| positive regulation of antigen receptor-mediated signaling pathway | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| receptor ligand activity | 1 |
| binding | 1 |
| intracellular vesicle | 1 |
| nucleus | 1 |
| nuclear envelope | 1 |
| organelle membrane | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
626 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CMTM3 | CMTM1 | Q8IZ96 | 975 |
| CMTM3 | CMTM2 | Q8TAZ6 | 968 |
| CMTM3 | CKLF | Q9UBR5 | 967 |
| CMTM3 | CMTM4 | Q8IZR5 | 966 |
| CMTM3 | CMTM7 | Q96FZ5 | 887 |
| CMTM3 | CMTM8 | Q8IZV2 | 761 |
| CMTM3 | CMTM6 | Q9NX76 | 750 |
| CMTM3 | SF3B3 | Q15393 | 496 |
| CMTM3 | KYNU | Q16719 | 474 |
| CMTM3 | BEAN1 | Q3B7T3 | 443 |
| CMTM3 | ZNF354A | O60765 | 433 |
| CMTM3 | DCTPP1 | Q9H773 | 427 |
| CMTM3 | NSA2 | O95478 | 422 |
| CMTM3 | UBAC2 | Q8NBM4 | 416 |
| CMTM3 | SNRPF | P62306 | 410 |
| CMTM3 | PRRG1 | O14668 | 410 |
IntAct
70 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CMTM3 | MOB3C | psi-mi:“MI:0915”(physical association) | 0.560 |
| CMTM3 | MOB1A | psi-mi:“MI:0915”(physical association) | 0.560 |
| MOB3C | CMTM3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MOB1A | CMTM3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CMTM3 | RETREG3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CMTM3 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| LRRC59 | CMTM3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CREB3L1 | CMTM3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| IKBIP | CMTM3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GJB1 | CMTM3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LEUTX | CMTM3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ARL13B | CMTM3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RETREG3 | CMTM3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CMTM3 | STMN4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| APOA5 | CMTM3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| IL10RA | CMTM3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CMTM3 | REEP4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SYT2 | CMTM3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HSD17B11 | CMTM3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CMTM3 | ELOVL4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC10A1 | CMTM3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MFSD14B | CMTM3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| AQP6 | CMTM3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MRM1 | CMTM3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CMTM3 | F13A1 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (31): CMTM3 (Two-hybrid), MOB3C (Two-hybrid), CMTM3 (Two-hybrid), CMTM3 (Negative Genetic), CMTM3 (Synthetic Lethality), CMTM3 (Two-hybrid), CMTM3 (Two-hybrid), CMTM3 (Two-hybrid), CMTM3 (Two-hybrid), CMTM3 (Two-hybrid), CMTM3 (Two-hybrid), CMTM3 (Two-hybrid), CMTM3 (Two-hybrid), FAM134C (Two-hybrid), SYT2 (Two-hybrid)
ESM2 similar proteins: A2VE13, A6QNL6, B6ID01, O09198, P16646, P20274, P21145, P25094, P54825, P55344, P56563, Q01453, Q04941, Q17R16, Q1RMP9, Q28296, Q2TA01, Q3ZBY0, Q4PNJ2, Q5BJS2, Q5R6H1, Q5RAI2, Q5RAZ3, Q5U1W4, Q5U4E0, Q5VXU1, Q64349, Q6WL85, Q6Y1E2, Q7TSY2, Q7Z7J7, Q86UP9, Q8BI08, Q8BM86, Q8IZV2, Q91XQ6, Q95MN6, Q969L2, Q96FZ5, Q96MX0
Diamond homologs: Q96MX0, Q99LJ5, Q9D6G9, Q9R1Q7, Q04941, Q6P742, Q6Y1E2, Q95MN6, Q96DZ9, Q28597
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
28 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 23 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1262 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:66609433:A:AG | acceptor_gain | 1.0000 |
| 16:66609433:AG:A | acceptor_gain | 1.0000 |
| 16:66609434:G:GG | acceptor_gain | 1.0000 |
| 16:66609434:GG:G | acceptor_gain | 1.0000 |
| 16:66609528:GGG:G | donor_gain | 1.0000 |
| 16:66609529:GG:G | donor_gain | 1.0000 |
| 16:66609529:GGG:G | donor_gain | 1.0000 |
| 16:66609530:GG:G | donor_gain | 1.0000 |
| 16:66609531:G:GG | donor_gain | 1.0000 |
| 16:66609531:GTGAG:G | donor_loss | 1.0000 |
| 16:66609532:T:G | donor_loss | 1.0000 |
| 16:66609877:CCACA:C | acceptor_loss | 1.0000 |
| 16:66609878:CACA:C | acceptor_loss | 1.0000 |
| 16:66609879:ACAG:A | acceptor_loss | 1.0000 |
| 16:66609880:CA:C | acceptor_loss | 1.0000 |
| 16:66609881:A:AC | acceptor_loss | 1.0000 |
| 16:66609882:GGT:G | acceptor_gain | 1.0000 |
| 16:66609999:AGAAG:A | donor_gain | 1.0000 |
| 16:66610000:GAAG:G | donor_gain | 1.0000 |
| 16:66610000:GAAGG:G | donor_gain | 1.0000 |
| 16:66610001:AAG:A | donor_gain | 1.0000 |
| 16:66610002:AG:A | donor_gain | 1.0000 |
| 16:66610002:AGGTA:A | donor_loss | 1.0000 |
| 16:66610003:GG:G | donor_gain | 1.0000 |
| 16:66610003:GGTA:G | donor_loss | 1.0000 |
| 16:66610004:G:GA | donor_loss | 1.0000 |
| 16:66610004:G:GG | donor_gain | 1.0000 |
| 16:66604949:GTCG:G | donor_gain | 0.9900 |
| 16:66607693:GGCAC:G | donor_gain | 0.9900 |
| 16:66608307:AG:A | acceptor_gain | 0.9900 |
AlphaMissense
1178 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:66609914:C:A | A144E | 0.981 |
| 16:66609910:T:C | F143L | 0.979 |
| 16:66609912:T:A | F143L | 0.979 |
| 16:66609912:T:G | F143L | 0.979 |
| 16:66609890:G:A | G136D | 0.977 |
| 16:66609457:C:A | A109E | 0.975 |
| 16:66608333:T:C | C58R | 0.974 |
| 16:66609526:C:A | A132D | 0.974 |
| 16:66609449:T:G | C106W | 0.971 |
| 16:66609899:C:A | A139D | 0.969 |
| 16:66604949:G:C | E48D | 0.967 |
| 16:66604949:G:T | E48D | 0.967 |
| 16:66609908:T:A | V142E | 0.967 |
| 16:66604929:G:C | G42R | 0.966 |
| 16:66609889:G:C | G136R | 0.965 |
| 16:66609438:T:C | F103L | 0.963 |
| 16:66609440:C:A | F103L | 0.963 |
| 16:66609440:C:G | F103L | 0.963 |
| 16:66609913:G:C | A144P | 0.961 |
| 16:66608309:G:C | G50R | 0.960 |
| 16:66609529:G:A | G133E | 0.960 |
| 16:66609481:C:A | S117Y | 0.958 |
| 16:66608373:C:A | P71H | 0.956 |
| 16:66609447:T:C | C106R | 0.956 |
| 16:66608373:C:G | P71R | 0.955 |
| 16:66609481:C:T | S117F | 0.955 |
| 16:66609460:C:A | A110D | 0.954 |
| 16:66604928:A:C | K41N | 0.953 |
| 16:66604928:A:T | K41N | 0.953 |
| 16:66609925:T:G | Y148D | 0.952 |
dbSNP variants (sampled 300 via entrez): RS1000200038 (16:66605063 C>A,G,T), RS1000626248 (16:66611219 G>A), RS1000739094 (16:66606618 T>C), RS1000830569 (16:66613833 G>A), RS1000982628 (16:66606349 G>C), RS1001393590 (16:66611536 G>A), RS1001396513 (16:66602353 T>C), RS1001465762 (16:66611935 C>T), RS1001481110 (16:66608041 T>A), RS1001547184 (16:66610744 T>C,G), RS1001645509 (16:66605879 G>A,C), RS1001904161 (16:66606945 G>A), RS1001975223 (16:66605601 G>A), RS1002377789 (16:66607176 C>G), RS1002785603 (16:66613438 G>A,C)
Disease associations
OMIM: gene MIM:607886 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
43 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects expression, increases expression, affects cotreatment | 3 |
| Benzo(a)pyrene | increases expression, increases methylation | 3 |
| Tetrachlorodibenzodioxin | increases expression | 3 |
| sodium arsenite | decreases expression, increases abundance, increases expression | 2 |
| Arsenic | increases expression, decreases expression, increases abundance | 2 |
| Estradiol | affects cotreatment, decreases expression, increases expression | 2 |
| Valproic Acid | decreases expression, increases methylation, affects expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| beta-lapachone | increases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| zinc chromate | decreases expression, increases abundance | 1 |
| manganese chloride | increases abundance, decreases expression | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chromium hexavalent ion | decreases expression, increases abundance | 1 |
| K 7174 | increases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Ethanol | affects cotreatment, increases abundance, increases expression | 1 |
| Calcitriol | decreases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Gasoline | affects cotreatment, increases abundance, increases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Manganese | decreases expression, increases abundance | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Polycyclic Aromatic Hydrocarbons | increases abundance, increases expression, affects cotreatment | 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.