MACC1
gene geneOn this page
Also known as 7A5SH3BP4L
Summary
MACC1 (MET transcriptional regulator MACC1, HGNC:30215) is a protein-coding gene on chromosome 7p21.1, encoding Metastasis-associated in colon cancer protein 1 (Q6ZN28). Acts as a transcription activator for MET and as a key regulator of HGF-MET signaling.
MACC1 is a key regulator of the hepatocyte growth factor (HGF; MIM 142409)-HGF receptor (HGFR, or MET; MIM 164860) pathway, which is involved in cellular growth, epithelial-mesenchymal transition, angiogenesis, cell motility, invasiveness, and metastasis. Expression of MACC1 in colon cancer (MIM 114500) specimens is an independent prognostic indicator for metastasis formation and metastasis-free survival (Stein et al., 2009 [PubMed 19098908]).
Source: NCBI Gene 346389 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 144 total
- Cancer driver (intOGen): loss-of-function (tumor-suppressor-like) across 1 cancer types
- MANE Select transcript:
NM_182762
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30215 |
| Approved symbol | MACC1 |
| Name | MET transcriptional regulator MACC1 |
| Location | 7p21.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | 7A5, SH3BP4L |
| Ensembl gene | ENSG00000183742 |
| Ensembl biotype | protein_coding |
| OMIM | 612646 |
| Entrez | 346389 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 8 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000332878, ENST00000400331, ENST00000471019, ENST00000483317, ENST00000589011, ENST00000910134, ENST00000910135, ENST00000910136, ENST00000910137, ENST00000939059
RefSeq mRNA: 1 — MANE Select: NM_182762
NM_182762
CCDS: CCDS5369
Canonical transcript exons
ENST00000400331 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001295919 | 20154193 | 20154381 |
| ENSE00001317933 | 20158204 | 20160245 |
| ENSE00001332817 | 20161748 | 20161870 |
| ENSE00001427091 | 20170714 | 20170778 |
| ENSE00001427683 | 20217299 | 20217384 |
| ENSE00001433209 | 20164256 | 20164399 |
| ENSE00001554656 | 20134655 | 20141158 |
Expression profiles
Bgee: expression breadth ubiquitous, 142 present calls, max score 87.80.
FANTOM5 (CAGE): breadth broad, TPM avg 5.1332 / max 359.8246, expressed in 606 samples.
FANTOM5 promoters (9 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 82968 | 3.2612 | 497 |
| 82969 | 0.5867 | 257 |
| 82971 | 0.4501 | 202 |
| 82970 | 0.4369 | 183 |
| 82972 | 0.2129 | 113 |
| 82973 | 0.0661 | 29 |
| 82964 | 0.0625 | 25 |
| 82974 | 0.0361 | 13 |
| 82975 | 0.0207 | 10 |
Top tissues by expression
224 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| nasal cavity epithelium | UBERON:0005384 | 87.80 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 83.51 | gold quality |
| ileal mucosa | UBERON:0000331 | 83.31 | gold quality |
| kidney epithelium | UBERON:0004819 | 82.99 | silver quality |
| islet of Langerhans | UBERON:0000006 | 82.78 | gold quality |
| bronchial epithelial cell | CL:0002328 | 81.90 | gold quality |
| bronchus | UBERON:0002185 | 80.58 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 79.77 | silver quality |
| duodenum | UBERON:0002114 | 79.33 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 78.19 | gold quality |
| oral cavity | UBERON:0000167 | 77.87 | gold quality |
| secondary oocyte | CL:0000655 | 77.23 | gold quality |
| colonic epithelium | UBERON:0000397 | 76.99 | gold quality |
| esophagus mucosa | UBERON:0002469 | 76.94 | gold quality |
| jejunal mucosa | UBERON:0000399 | 76.14 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 75.61 | gold quality |
| pancreas | UBERON:0001264 | 75.47 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 75.30 | gold quality |
| tonsil | UBERON:0002372 | 75.16 | gold quality |
| minor salivary gland | UBERON:0001830 | 74.72 | gold quality |
| mouth mucosa | UBERON:0003729 | 73.95 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 73.46 | gold quality |
| metanephros cortex | UBERON:0010533 | 72.74 | gold quality |
| body of pancreas | UBERON:0001150 | 72.40 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 72.12 | silver quality |
| rectum | UBERON:0001052 | 71.70 | gold quality |
| bone marrow cell | CL:0002092 | 71.63 | gold quality |
| kidney | UBERON:0002113 | 71.47 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 70.95 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 70.83 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-119 | yes | 27.30 |
| E-ANND-3 | yes | 6.39 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
2 targets.
| Target | Regulation |
|---|---|
| MACC1 | |
| MET | Activation |
Upstream regulators (CollecTRI, top): AP1, MACC1, SOX17, SP1, SRY
miRNA regulators (miRDB)
201 targeting MACC1, 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-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-511-3P | 99.99 | 68.85 | 1467 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
Literature-anchored findings (GeneRIF, showing 40)
- study revealed MACC1 protein consists of 4 domains: ZU5, SH3 & 2 C-terminal death domains; bioinformatic analysis indicates MACC1, besides its involvement in signal transduction from the MET receptor, links MET signaling & apoptosis (PMID:19499089)
- MACC1 acts via a specific consensus sequence of the Met promoter, described as an Sp1 binding site. (PMID:19556890)
- Summarized are MACC1 genomic localization and organization, its predicted splice variants, and single nucleotide polymorphisms, predicted expressions of MACC1 in normal and malignant human tissues. (PMID:19787327)
- Results suggest that MACC1 is more frequently expressed in advanced colorectal carcinomas. (PMID:20682999)
- MACC1 is more frequently expressed in peritoneal-disseminated gastric carcinomas and may serve as a new parameter for the prognostic prediction of gastric cancer. (PMID:20944120)
- Metastasis associated in colon cancer 1 gene overexpression may be a useful marker for predicting postoperative recurrence in patients with lung adenocarcinoma after surgery. (PMID:21093878)
- Expression analysis of MET, MACC1, and HGF in metastatic colorectal cancer. (PMID:21447729)
- MACC1 is more frequently expressed in vascular invasive hepatocellular carcinoma. (PMID:21498695)
- Overexpression of MACC1 mRNA is associated with postoperative recurrence in patients with lung adenocarcinoma following surgery (PMID:21508357)
- Data indicate taht candidate genes ACTB, BZW, OCM, MACC1, NXPH1, PRPS1L1, RAC1 and RPA3, which lie within the DFNB90 region, were sequenced and no potentially causal variants were identified. (PMID:21734401)
- High MACC1 is associated with ovarian carcinoma (PMID:21923915)
- MACC1 may identify low- and high-risk individuals with hepatocellular carcinoma and be a valuable indicator for stratifying the prognosis of TNM stage I patients. (PMID:21955323)
- Concomitant downregulation of miR-1 and increase of MACC1 can thus contribute to MET overexpression and to the metastatic behavior of colon cancer cells. (PMID:22179665)
- For the first time, our study investigated the influence of MACC1 tagging polymorphisms on overall survival suggesting SNP rs1990172 as a predictor for reduced overall survival in colorectal cancer patients. (PMID:22251819)
- MACC1 has a role in colorectal cancer and can be used for imaging in xenografts (PMID:22484916)
- High expression of MACC1 or MET was associated with reduced relapse-free survival and the prognosis was worse when both genes were highly expressed (PMID:22493396)
- Findings newly described miR-143/MACC1 link and provided a potential mechanism for MACC1 dysregulation and contribution to CRC cell invasion. (PMID:22533346)
- MACC1 and c-met have an important function in the differentiation, invasion, and metastasis of NSCLC (PMID:22814258)
- the identification of coding MACC1 SNPs in primary colorectal tumors does not improve the prediction for metastasis formation or for patients’ survival compared to MACC1 expression analysis alone. (PMID:22838389)
- In stage II colon cancer, MACC1 expression predicts development of metastases, outperforming microsatellite stability status, as well as KRAS/BRAF mutation status. (PMID:23095620)
- Circulating MACC1 transcripts in colorectal cancer patient plasma predict metastasis and prognosis. (PMID:23166620)
- MACC1 protein was localized in both nuclei and cytoplasm of the hepatocellular carcinoma cell lines and the nuclear localization of MACC1 protein was associated with increased aggressiveness of the hepatocellular carcinoma cell lines. (PMID:23232575)
- MACC1 mRNA up-regulation is a feature of disease progression in HBV-related hepatocellular carcinoma. (PMID:23291068)
- MACC1 mRNA and nuclear protein expression was significantly increased in tumorous tissues in these patients than that in normal liver tissue controls (PMID:23414367)
- MACC1 also promoted the proliferation, migration and invasion of both gastric cancer cell lines. (PMID:23457029)
- MACC1 plays an important role in carcinogenesis of nasopharyngeal carcinoma. (PMID:23573286)
- MACC1, a new easily detectable biomarker in cancer, is an independent prognostic factor of recurrence after liver resection of colorectal cancer metastasis. (PMID:23665971)
- There is an inverse correlation between MACC1 level and patient survival in subjects with early-stage HCC or with normal serum AFP. (PMID:23717574)
- Studied the expression of MACC1 in esophageal cancer by utilizing immunohistochemistry and analyzed the relationship between the expression and esophageal cancer prognosis. (PMID:23737034)
- Studied the expression of MACC-1 and c-MET in gastric cancer, and correlated this expression with clinicohistological parameters and patient prognosis. (PMID:23812675)
- overexpression of MACC1 was positively associated with the progression and poor prognosis in patients with glioma. (PMID:23982875)
- our data suggest that MACC1 may play important roles in the development and progression of osteosarcoma, and thus may be considered as a novel molecular target for therapy of the patients with OS. (PMID:24065195)
- MACC1 is related to colorectal cancer initiation and early-stage invasive growth. (PMID:24124150)
- our data presented herein suggest that biological implications triggered by MACC1 may be tightly associated with the status of Akt signaling pathway in osteosarcoma (PMID:24163085)
- High MACC1 expression is associated with malignant glioma progression. (PMID:24220141)
- MACC1 protein and mRNA overexpression in both NSCLC tissues and cell lines is related to tumor recurrence, metastasis, and prognosis (PMID:24310811)
- MACC1 acts as a putative oncogene in GBC and could be a novel diagnostic and therapeutic target for gallbladder cancer. (PMID:24425103)
- Our data suggest that SNP rs1990172 and SNP rs975263 in the MACC1 gene may be potential genetic markers for hepatocellular carcinoma recurrence in liver transplantation patients. (PMID:24465159)
- MACC1 or combination of MACC1/FAK could serve as a novel biomarker in predicting the prognosis of patocellular carcinoma after liver transplantation . (PMID:24516351)
- Highly expressed MACC1 protein is associated with hepatocellular carcinoma. (PMID:24568531)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | macc1 | ENSDARG00000040717 |
| mus_musculus | Macc1 | ENSMUSG00000041886 |
| rattus_norvegicus | Macc1 | ENSRNOG00000037436 |
Paralogs (1): SH3BP4 (ENSG00000130147)
Protein
Protein identifiers
Metastasis-associated in colon cancer protein 1 — Q6ZN28 (reviewed: Q6ZN28)
Alternative names: SH3 domain-containing protein 7a5
All UniProt accessions (1): Q6ZN28
UniProt curated annotations — full annotation on UniProt →
Function. Acts as a transcription activator for MET and as a key regulator of HGF-MET signaling. Promotes cell motility, proliferation and hepatocyte growth factor (HGF)-dependent scattering in vitro and tumor growth and metastasis in vivo.
Subunit / interactions. Interacts with FASLG.
Subcellular location. Cytoplasm. Nucleus.
Tissue specificity. Preferentially expressed in metastasizing tumors.
RefSeq proteins (1): NP_877439* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000906 | ZU5_dom | Domain |
| IPR001452 | SH3_domain | Domain |
| IPR056181 | SH3BP4_C | Domain |
| IPR056182 | UPA_SH3BP4 | Domain |
| IPR056183 | DEATH_SH3BP4 | Domain |
Pfam: PF23637, PF23640, PF24094
UniProt features (12 total): sequence variant 5, sequence conflict 3, domain 2, chain 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6ZN28-F1 | 71.40 | 0.26 |
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 (1): 19
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 123 (showing top):
CCAWYNNGAAR_UNKNOWN, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_DN, GOMF_GROWTH_FACTOR_ACTIVITY, WANG_LMO4_TARGETS_DN, GOBP_POSITIVE_REGULATION_OF_CELL_DIVISION, CHARAFE_BREAST_CANCER_BASAL_VS_MESENCHYMAL_UP, GOBP_REGULATION_OF_CELL_DIVISION, GOMF_SIGNALING_RECEPTOR_BINDING, ISRE_01, GOBP_CELL_DIVISION, CHARAFE_BREAST_CANCER_LUMINAL_VS_MESENCHYMAL_UP, MASSARWEH_TAMOXIFEN_RESISTANCE_UP, VECCHI_GASTRIC_CANCER_EARLY_UP, VANASSE_BCL2_TARGETS_UP, GOMF_SIGNALING_RECEPTOR_REGULATOR_ACTIVITY
GO Biological Process (3): positive regulation of transcription by RNA polymerase II (GO:0045944), positive regulation of cell division (GO:0051781), signal transduction (GO:0007165)
GO Molecular Function (2): growth factor activity (GO:0008083), protein binding (GO:0005515)
GO Cellular Component (3): nucleus (GO:0005634), cytoplasm (GO:0005737), mitochondrion (GO:0005739)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| intracellular membrane-bounded organelle | 2 |
| regulation of transcription by RNA polymerase II | 1 |
| transcription by RNA polymerase II | 1 |
| positive regulation of DNA-templated transcription | 1 |
| positive regulation of cellular process | 1 |
| cell division | 1 |
| regulation of cell division | 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 anatomical structure | 1 |
| cellular anatomical structure | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
556 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MACC1 | HGF | P14210 | 827 |
| MACC1 | MET | P08581 | 806 |
| MACC1 | PDE8A | O60658 | 622 |
| MACC1 | EPS15 | P42566 | 567 |
| MACC1 | PPDPF | Q9H3Y8 | 479 |
| MACC1 | DNMBP | Q6XZF7 | 389 |
| MACC1 | RRS1 | Q15050 | 374 |
| MACC1 | TMEM196 | Q5HYL7 | 370 |
| MACC1 | CTNNB1 | P35222 | 366 |
| MACC1 | SIX3 | O95343 | 353 |
| MACC1 | MDC1 | Q14676 | 353 |
| MACC1 | AKT1 | P31749 | 348 |
| MACC1 | CDH1 | P12830 | 323 |
| MACC1 | TRIP12 | Q14669 | 322 |
| MACC1 | ZEB1 | P37275 | 321 |
IntAct
10 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| MACC1 | FASLG | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| MACC1 | MARK3 | psi-mi:“MI:0914”(association) | 0.350 |
| KLHL22 | TRAV18 | psi-mi:“MI:0914”(association) | 0.350 |
| N | psi-mi:“MI:0914”(association) | 0.350 | |
| CDH1 | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (14): MACC1 (Proximity Label-MS), MACC1 (Affinity Capture-MS), EPS15 (Affinity Capture-MS), MARK3 (Affinity Capture-MS), FCHO2 (Affinity Capture-MS), MIB2 (Affinity Capture-MS), MARK2 (Affinity Capture-MS), YWHAE (Affinity Capture-MS), MACC1 (Affinity Capture-MS), MACC1 (Cross-Linking-MS (XL-MS)), SRRM1 (Cross-Linking-MS (XL-MS)), MACC1 (Affinity Capture-MS), MACC1 (Affinity Capture-RNA), MACC1 (Protein-peptide)
ESM2 similar proteins: A0A2B4RNI3, A0A3M6TIF0, A0A8B8EY61, A0A913XCT1, A6NKT7, B1WBT0, G5ED39, H2QII6, O14715, O36371, O36385, O36386, O36406, P0DJD0, P0DJD1, P24447, P32742, P33802, P34335, P42286, P49792, P52344, P52448, P90245, Q01013, Q01015, Q0VD34, Q13535, Q18LD0, Q23652, Q499E0, Q568Z9, Q5PQN2, Q5R4I8, Q5RBY8, Q6ZN28, Q751Y8, Q76B58, Q7Z3J3, Q8K0S0
Diamond homologs: A0JNB0, A1A5H8, A1DFN5, A1Y2K1, P00523, P00524, P00525, P00526, P05480, P06241, P09324, P12931, P13115, P13116, P13406, P14084, P14085, P15054, P17713, P25020, P27447, P34109, P39688, P63185, Q05876, Q1JPZ3, Q1LVQ2, Q5RBY8, Q5U228, Q62844, Q6EWH2, Q6NU22, Q6NU51, Q6ZN28, Q8AXQ3, Q921I6, Q9JJS5, Q9P0V3, Q9V9J3, Q9WUD9
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MACC1 | “up-regulates quantity by expression” | MET | “transcriptional regulation” |
| DCLK1 | “up-regulates activity” | MACC1 | phosphorylation |
Disease & clinical
Cancer significance
From intOGen — cancer-driver classification: loss-of-function (tumor-suppressor-like) across 1 cancer types — LUAD.
Clinical variants and AI predictions
ClinVar
144 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 118 |
| Likely benign | 8 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2112 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:20140953:T:TA | donor_gain | 1.0000 |
| 7:20140954:C:A | donor_gain | 1.0000 |
| 7:20141029:T:A | donor_gain | 1.0000 |
| 7:20141040:G:C | donor_gain | 1.0000 |
| 7:20154187:TCTTA:T | donor_loss | 1.0000 |
| 7:20154188:CTTA:C | donor_loss | 1.0000 |
| 7:20154189:TTACC:T | donor_loss | 1.0000 |
| 7:20154190:TAC:T | donor_loss | 1.0000 |
| 7:20154191:A:AC | donor_gain | 1.0000 |
| 7:20154191:A:AG | donor_loss | 1.0000 |
| 7:20154192:C:CC | donor_gain | 1.0000 |
| 7:20154192:CCT:C | donor_gain | 1.0000 |
| 7:20154377:AGAGC:A | acceptor_gain | 1.0000 |
| 7:20154378:GAGC:G | acceptor_gain | 1.0000 |
| 7:20154379:AGC:A | acceptor_gain | 1.0000 |
| 7:20154380:GC:G | acceptor_gain | 1.0000 |
| 7:20154381:CC:C | acceptor_gain | 1.0000 |
| 7:20154381:CCTG:C | acceptor_loss | 1.0000 |
| 7:20154382:C:CC | acceptor_gain | 1.0000 |
| 7:20154383:T:A | acceptor_loss | 1.0000 |
| 7:20160247:T:C | acceptor_gain | 1.0000 |
| 7:20160254:T:C | acceptor_gain | 1.0000 |
| 7:20161742:CCATA:C | donor_loss | 1.0000 |
| 7:20161746:ACCTG:A | donor_loss | 1.0000 |
| 7:20161747:CCT:C | donor_loss | 1.0000 |
| 7:20161866:TCCAC:T | acceptor_gain | 1.0000 |
| 7:20161867:CCAC:C | acceptor_gain | 1.0000 |
| 7:20161867:CCACC:C | acceptor_gain | 1.0000 |
| 7:20161868:CAC:C | acceptor_gain | 1.0000 |
| 7:20161868:CACC:C | acceptor_gain | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000009848 (7:20174556 G>A), RS1000031507 (7:20210298 C>T), RS1000036353 (7:20135665 T>C), RS1000050571 (7:20205834 A>C,G), RS1000079844 (7:20175859 C>G), RS1000177533 (7:20143538 G>A), RS1000189227 (7:20141258 A>C), RS1000252437 (7:20179314 A>G), RS1000262552 (7:20215676 G>A), RS1000285803 (7:20215019 T>A), RS1000290778 (7:20163231 T>A,C), RS1000366435 (7:20149274 C>T), RS1000419044 (7:20148958 T>C), RS1000455955 (7:20183972 T>G), RS1000461233 (7:20178481 G>A,T)
Disease associations
OMIM: gene MIM:612646 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002000_4 | Adverse response to chemotherapy (neutropenia/leucopenia) (etoposide) | 9.000000e-06 |
| GCST005956_25 | Waist-to-hip ratio adjusted for BMI | 3.000000e-08 |
| GCST005962_47 | Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test) | 7.000000e-07 |
| GCST006631_50 | Nicotine dependence and major depression (severity of comorbidity) | 6.000000e-06 |
| GCST007995_50 | Asthma (childhood onset) | 9.000000e-09 |
| GCST009798_44 | Asthma | 3.000000e-08 |
| GCST90011900_195 | Serum alkaline phosphatase levels | 4.000000e-09 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0008007 | age at assessment |
| EFO:0008343 | sex interaction measurement |
| EFO:0007006 | depressive symptom measurement |
| EFO:0009262 | nicotine dependence symptom count |
| EFO:0004533 | alkaline phosphatase measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
38 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases methylation, affects cotreatment, increases expression | 8 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| mercuric bromide | increases expression, affects cotreatment | 2 |
| entinostat | increases expression, affects cotreatment | 2 |
| belinostat | increases expression, affects cotreatment | 2 |
| Panobinostat | increases expression, affects cotreatment | 2 |
| Estradiol | affects cotreatment, decreases expression, increases expression | 2 |
| Formaldehyde | decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Tobacco Smoke Pollution | affects expression, increases expression | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, increases expression | 2 |
| TL8-506 | increases expression, affects cotreatment | 1 |
| urushiol | increases expression | 1 |
| methylmercuric chloride | decreases expression, increases expression | 1 |
| bisphenol A | decreases methylation | 1 |
| 2,5,2’,5’-tetrachlorobiphenyl | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression, affects cotreatment | 1 |
| cylindrospermopsin | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| parecoxib | 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 |
| (+)-JQ1 compound | decreases expression | 1 |
| FH535 | decreases reaction, increases expression | 1 |
| Fulvestrant | decreases methylation | 1 |
| Air Pollutants | increases abundance, decreases expression | 1 |
| Benzo(a)pyrene | affects methylation, decreases methylation, increases methylation | 1 |
| Carbamazepine | affects expression | 1 |
| Lipopolysaccharides | increases expression, affects response to substance, 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.