NACC2
gene geneOn this page
Also known as MGC23427BEND9BTBD31
Summary
NACC2 (NACC family member 2, HGNC:23846) is a protein-coding gene on chromosome 9q34.3, encoding Nucleus accumbens-associated protein 2 (Q96BF6). Functions as a transcriptional repressor through its association with the NuRD complex.
Enables several functions, including DNA-binding transcription repressor activity, RNA polymerase II-specific; histone deacetylase binding activity; and protein homodimerization activity. Involved in several processes, including negative regulation of transcription by RNA polymerase II; positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage; and protein homooligomerization. Located in chromatin; mitochondrion; and nucleolus.
Source: NCBI Gene 138151 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 67 total
- MANE Select transcript:
NM_144653
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23846 |
| Approved symbol | NACC2 |
| Name | NACC family member 2 |
| Location | 9q34.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC23427, BEND9, BTBD31 |
| Ensembl gene | ENSG00000148411 |
| Ensembl biotype | protein_coding |
| OMIM | 615786 |
| Entrez | 138151 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 3 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000277554, ENST00000371753, ENST00000467669, ENST00000930481
RefSeq mRNA: 1 — MANE Select: NM_144653
NM_144653
CCDS: CCDS6993
Canonical transcript exons
ENST00000277554 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001352850 | 136095189 | 136095289 |
| ENSE00003889367 | 136013864 | 136013969 |
| ENSE00003890139 | 136006537 | 136012024 |
| ENSE00003893831 | 136013199 | 136013296 |
| ENSE00003893876 | 136049636 | 136050580 |
| ENSE00003894415 | 136016265 | 136016429 |
Expression profiles
Bgee: expression breadth ubiquitous, 289 present calls, max score 99.07.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.4305 / max 69.0075, expressed in 1751 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 103117 | 6.8099 | 1687 |
| 103118 | 1.9037 | 1219 |
| 103116 | 1.7170 | 1091 |
Top tissues by expression
296 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| dorsal motor nucleus of vagus nerve | UBERON:0002870 | 99.07 | gold quality |
| inferior olivary complex | UBERON:0002127 | 98.76 | gold quality |
| medial globus pallidus | UBERON:0002477 | 98.61 | gold quality |
| globus pallidus | UBERON:0001875 | 98.37 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 97.93 | gold quality |
| endothelial cell | CL:0000115 | 97.58 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 97.52 | gold quality |
| cranial nerve II | UBERON:0000941 | 97.48 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 97.31 | gold quality |
| medulla oblongata | UBERON:0001896 | 96.92 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 96.92 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 96.81 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 96.79 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 96.67 | gold quality |
| postcentral gyrus | UBERON:0002581 | 96.38 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 96.31 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 96.12 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 95.94 | gold quality |
| parietal lobe | UBERON:0001872 | 95.66 | gold quality |
| entorhinal cortex | UBERON:0002728 | 95.57 | gold quality |
| spinal cord | UBERON:0002240 | 95.56 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 95.50 | gold quality |
| pons | UBERON:0000988 | 95.49 | gold quality |
| blood vessel layer | UBERON:0004797 | 95.47 | gold quality |
| seminal vesicle | UBERON:0000998 | 95.36 | gold quality |
| saphenous vein | UBERON:0007318 | 95.17 | gold quality |
| ventral tegmental area | UBERON:0002691 | 95.16 | gold quality |
| temporal lobe | UBERON:0001871 | 94.47 | gold quality |
| midbrain | UBERON:0001891 | 94.47 | gold quality |
| amygdala | UBERON:0001876 | 94.35 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.94 |
| E-MTAB-6142 | no | 43.96 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
1 targets.
| Target | Regulation |
|---|---|
| MDM2 | Repression |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA2507.1 | NACC2 | Other factors with up to three adjacent zinc fingers |
| MA2559.1 | NACC2 | Other factors with up to three adjacent zinc fingers |
JASPAR matrix evidence (PMIDs): PMID:35144965
Upstream regulators (CollecTRI, top): TP53
miRNA regulators (miRDB)
228 targeting NACC2, 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-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-5193 | 100.00 | 67.26 | 1744 |
| 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-6798-5P | 100.00 | 65.77 | 699 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-4776-3P | 100.00 | 68.73 | 1340 |
| HSA-MIR-3120-5P | 100.00 | 65.56 | 965 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| 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 |
Literature-anchored findings (GeneRIF, showing 2)
- RBB is a novel transcriptional repressor and an important regulator of p53 pathway. (PMID:22926524)
- NACC2, a molecular effector of miR-132 regulation at the interface between adult neurogenesis and Alzheimer’s disease. (PMID:39256511)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Nacc2 | ENSMUSG00000026932 |
| rattus_norvegicus | Nacc2 | ENSRNOG00000018231 |
Paralogs (28): ZNF280C (ENSG00000056277), ZBTB25 (ENSG00000089775), PRDM13 (ENSG00000112238), BCL6 (ENSG00000113916), FEZF1 (ENSG00000128610), ZBTB46 (ENSG00000130584), PRDM12 (ENSG00000130711), ZNF280D (ENSG00000137871), FEZF2 (ENSG00000153266), ZBTB7B (ENSG00000160685), NACC1 (ENSG00000160877), BCL6B (ENSG00000161940), GFI1 (ENSG00000162676), GFI1B (ENSG00000165702), ZBTB49 (ENSG00000168826), ZNF280A (ENSG00000169548), ZNF581 (ENSG00000171425), ZNF524 (ENSG00000171443), ZBTB26 (ENSG00000171448), ZBTB21 (ENSG00000173276), ZNF683 (ENSG00000176083), ZBTB33 (ENSG00000177485), ZBTB3 (ENSG00000185670), ZBTB6 (ENSG00000186130), ZBTB14 (ENSG00000198081), ZBTB12 (ENSG00000204366), ZNF580 (ENSG00000213015), ZNF280B (ENSG00000275004)
Protein
Protein identifiers
Nucleus accumbens-associated protein 2 — Q96BF6 (reviewed: Q96BF6)
Alternative names: BTB/POZ domain-containing protein 14A, Repressor with BTB domain and BEN domain
All UniProt accessions (1): Q96BF6
UniProt curated annotations — full annotation on UniProt →
Function. Functions as a transcriptional repressor through its association with the NuRD complex. Recruits the NuRD complex to the promoter of MDM2, leading to the repression of MDM2 transcription and subsequent stability of p53/TP53.
Subunit / interactions. Homooligomer; mediated by the BTB domain. Interacts with the NuRD complex. Interacts (via C-terminal part) with HDAC2. Interacts (via BTB domain) with MTA1, MTA2 and MTA3.
Subcellular location. Nucleus.
RefSeq proteins (1): NP_653254* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000210 | BTB/POZ_dom | Domain |
| IPR011333 | SKP1/BTB/POZ_sf | Homologous_superfamily |
| IPR018379 | BEN_domain | Domain |
| IPR050457 | ZnFinger_BTB_dom_contain | Family |
Pfam: PF00651, PF10523
UniProt features (12 total): cross-link 5, domain 2, region of interest 2, compositionally biased region 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96BF6-F1 | 61.41 | 0.27 |
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): 429, 456, 174, 217, 299
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 241 (showing top):
GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_UP, TGACCTY_ERR1_Q2, SENESE_HDAC1_AND_HDAC2_TARGETS_DN, ONKEN_UVEAL_MELANOMA_UP, GOBP_APOPTOTIC_SIGNALING_PATHWAY, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, GOBP_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_IN_RESPONSE_TO_DNA_DAMAGE, GOBP_DNA_DAMAGE_RESPONSE, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_13, GOBP_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_REGULATION_OF_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_IN_RESPONSE_TO_DNA_DAMAGE, GOBP_PROTEIN_HOMOOLIGOMERIZATION
GO Biological Process (8): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of transcription by RNA polymerase II (GO:0006357), negative regulation of cell population proliferation (GO:0008285), protein-containing complex localization (GO:0031503), negative regulation of DNA-templated transcription (GO:0045892), protein homooligomerization (GO:0051260), positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231), regulation of cell population proliferation (GO:0042127)
GO Molecular Function (8): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), protein homodimerization activity (GO:0042803), histone deacetylase binding (GO:0042826), protein-containing complex binding (GO:0044877), DNA binding (GO:0003677), protein binding (GO:0005515)
GO Cellular Component (5): chromatin (GO:0000785), nucleus (GO:0005634), nucleolus (GO:0005730), mitochondrion (GO:0005739), nuclear lumen (GO:0031981)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 3 |
| regulation of transcription by RNA polymerase II | 2 |
| transcription by RNA polymerase II | 2 |
| regulation of DNA-templated transcription | 2 |
| cell population proliferation | 2 |
| binding | 2 |
| intracellular membrane-bounded organelle | 2 |
| negative regulation of DNA-templated transcription | 1 |
| regulation of cell population proliferation | 1 |
| negative regulation of cellular process | 1 |
| macromolecule localization | 1 |
| DNA-templated transcription | 1 |
| negative regulation of RNA biosynthetic process | 1 |
| protein complex oligomerization | 1 |
| intrinsic apoptotic signaling pathway in response to DNA damage | 1 |
| regulation of intrinsic apoptotic signaling pathway in response to DNA damage | 1 |
| positive regulation of intrinsic apoptotic signaling pathway | 1 |
| regulation of cellular process | 1 |
| cis-regulatory region sequence-specific DNA binding | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| negative regulation of transcription by RNA polymerase II | 1 |
| DNA-binding transcription factor activity, RNA polymerase II-specific | 1 |
| DNA-binding transcription repressor activity | 1 |
| identical protein binding | 1 |
| protein dimerization activity | 1 |
| enzyme binding | 1 |
| nucleic acid binding | 1 |
| chromosome | 1 |
| cellular anatomical structure | 1 |
| nuclear lumen | 1 |
| intracellular membraneless organelle | 1 |
| cytoplasm | 1 |
| nucleus | 1 |
| intracellular organelle lumen | 1 |
Protein interactions and networks
STRING
788 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NACC2 | PPP1R26 | Q5T8A7 | 511 |
| NACC2 | HINFP | Q9BQA5 | 497 |
| NACC2 | ETV6 | P41212 | 474 |
| NACC2 | BEND3 | Q5T5X7 | 463 |
| NACC2 | QKI | Q96PU8 | 444 |
| NACC2 | BEND6 | Q5SZJ8 | 431 |
| NACC2 | RB1CC1 | Q8TDY2 | 428 |
| NACC2 | RBL2 | Q08999 | 428 |
| NACC2 | RB1 | P06400 | 416 |
| NACC2 | MORC3 | Q14149 | 408 |
| NACC2 | TRIM27 | P14373 | 401 |
| NACC2 | ID2 | Q02363 | 390 |
| NACC2 | DGCR8 | Q8WYQ5 | 389 |
| NACC2 | BTBD1 | Q9H0C5 | 379 |
| NACC2 | GPR37L1 | O60883 | 379 |
| NACC2 | BEND7 | Q8N7W2 | 379 |
IntAct
34 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RFXANK | RFXAP | psi-mi:“MI:0914”(association) | 0.780 |
| VHL | NACC2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FOXP3 | FOXP2 | psi-mi:“MI:0914”(association) | 0.530 |
| HSPB8 | VWA8 | psi-mi:“MI:0914”(association) | 0.530 |
| DNAJB8 | DNAJB6 | psi-mi:“MI:0914”(association) | 0.530 |
| RPP21 | POP7 | psi-mi:“MI:0914”(association) | 0.530 |
| EPS8 | NACC2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ZBTB34 | CHEK1 | psi-mi:“MI:0914”(association) | 0.350 |
| BCAN | HSPA5 | psi-mi:“MI:0914”(association) | 0.350 |
| NACC2 | FHL2 | psi-mi:“MI:0914”(association) | 0.350 |
| B4GALT2 | LENG9 | psi-mi:“MI:0914”(association) | 0.350 |
| BORCS8 | SH3PXD2B | psi-mi:“MI:0914”(association) | 0.350 |
| NPAS1 | CIBAR1 | psi-mi:“MI:0914”(association) | 0.350 |
| INF2 | PIPSL | psi-mi:“MI:0914”(association) | 0.350 |
| SENP3 | IPO5 | psi-mi:“MI:0914”(association) | 0.350 |
| TPGS1 | PIK3R2 | psi-mi:“MI:0914”(association) | 0.350 |
| PPARD | ACACB | psi-mi:“MI:0914”(association) | 0.350 |
| C6orf141 | ZNF195 | psi-mi:“MI:0914”(association) | 0.350 |
| DNAJB6 | SCAMP1 | psi-mi:“MI:0914”(association) | 0.350 |
| DHDH | ZNF185 | psi-mi:“MI:0914”(association) | 0.350 |
| NCAPH2 | FANCA | psi-mi:“MI:0914”(association) | 0.350 |
| SOHLH1 | FANCA | psi-mi:“MI:0914”(association) | 0.350 |
| TFPT | CCP110 | psi-mi:“MI:0914”(association) | 0.350 |
| DCTN3 | RPS6KA4 | psi-mi:“MI:0914”(association) | 0.350 |
| AANAT | UBB | psi-mi:“MI:0914”(association) | 0.350 |
| TWIST2 | TCF3 | psi-mi:“MI:0914”(association) | 0.350 |
| CIB3 | PCK1 | psi-mi:“MI:0914”(association) | 0.350 |
| C11orf71 | MNAT1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (61): NACC2 (Affinity Capture-MS), NACC2 (Affinity Capture-RNA), NACC2 (Affinity Capture-RNA), NACC2 (Positive Genetic), NACC1 (Affinity Capture-MS), NACC2 (Affinity Capture-MS), NACC2 (Affinity Capture-MS), OSBPL1A (Affinity Capture-MS), FHL2 (Affinity Capture-MS), GOPC (Affinity Capture-MS), FEM1A (Affinity Capture-MS), TRAPPC9 (Affinity Capture-MS), NACC2 (Affinity Capture-MS), NACC2 (Affinity Capture-MS), NACC2 (Affinity Capture-MS)
ESM2 similar proteins: A6QPM3, A7X8B3, A7X8B5, A7X8B7, A7X8B9, A7X8C2, A7X8C4, A7X8C7, A7X8C9, A7X8D2, A7X8D4, A7XW16, A7XW20, A7XW25, E9Q3T6, E9Q6W4, J7FCF0, O14512, O42406, O70361, O75626, O95863, O97775, O97952, O97960, P06186, P06401, P07812, P10275, P41182, P41183, Q02085, Q0VDT2, Q3UZD5, Q562B4, Q5IS79, Q5U5Q3, Q60688, Q62233, Q6F2E4
Diamond homologs: A0JN76, A1L2U9, A1YPR0, B1WAZ8, B1WBS3, B1WBU4, B2RXF5, E1B932, G5E8B9, O14867, O15062, O43167, O43298, O88282, O88939, O93567, O95365, O95625, P10074, P28575, P41182, P41183, P52739, P97302, P97303, Q0IH98, Q0IJ29, Q0P4X6, Q0VCJ6, Q13105, Q14526, Q1H9T6, Q1L8W0, Q3B725, Q3B7M1, Q3B7N9, Q3SWU4, Q3ZB90, Q503R4, Q53G59
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
67 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 54 |
| Likely benign | 4 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1940 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:136011658:T:TA | donor_gain | 1.0000 |
| 9:136012023:CA:C | acceptor_gain | 1.0000 |
| 9:136012025:C:CC | acceptor_gain | 1.0000 |
| 9:136013194:CTTAC:C | donor_loss | 1.0000 |
| 9:136013196:TAC:T | donor_loss | 1.0000 |
| 9:136013197:A:AC | donor_gain | 1.0000 |
| 9:136013197:ACA:A | donor_loss | 1.0000 |
| 9:136013198:C:CA | donor_gain | 1.0000 |
| 9:136013198:CA:C | donor_gain | 1.0000 |
| 9:136013198:CAT:C | donor_gain | 1.0000 |
| 9:136013198:CATT:C | donor_gain | 1.0000 |
| 9:136013198:CATTT:C | donor_gain | 1.0000 |
| 9:136013292:TGTTC:T | acceptor_gain | 1.0000 |
| 9:136013294:TTC:T | acceptor_gain | 1.0000 |
| 9:136013295:TC:T | acceptor_gain | 1.0000 |
| 9:136013296:CC:C | acceptor_gain | 1.0000 |
| 9:136013297:C:CC | acceptor_gain | 1.0000 |
| 9:136013297:CTG:C | acceptor_loss | 1.0000 |
| 9:136013300:G:C | acceptor_gain | 1.0000 |
| 9:136013300:G:GC | acceptor_gain | 1.0000 |
| 9:136013310:C:CT | acceptor_gain | 1.0000 |
| 9:136013310:C:T | acceptor_gain | 1.0000 |
| 9:136013311:G:T | acceptor_gain | 1.0000 |
| 9:136016260:CTCA:C | donor_loss | 1.0000 |
| 9:136016262:CAC:C | donor_loss | 1.0000 |
| 9:136016264:C:CT | donor_loss | 1.0000 |
| 9:136016266:TGCC:T | donor_gain | 1.0000 |
| 9:136016428:CA:C | acceptor_gain | 1.0000 |
| 9:136049630:CGTTA:C | donor_loss | 1.0000 |
| 9:136049631:GTTAC:G | donor_loss | 1.0000 |
AlphaMissense
3812 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:136011927:C:A | W451C | 1.000 |
| 9:136011927:C:G | W451C | 1.000 |
| 9:136011929:A:G | W451R | 1.000 |
| 9:136011929:A:T | W451R | 1.000 |
| 9:136011943:C:G | R446P | 1.000 |
| 9:136011944:G:T | R446S | 1.000 |
| 9:136011946:C:G | R445P | 1.000 |
| 9:136011947:G:T | R445S | 1.000 |
| 9:136011949:G:T | A444D | 1.000 |
| 9:136011951:G:C | N443K | 1.000 |
| 9:136011951:G:T | N443K | 1.000 |
| 9:136011952:T:A | N443I | 1.000 |
| 9:136011953:T:C | N443D | 1.000 |
| 9:136011955:G:A | T442I | 1.000 |
| 9:136011957:G:C | C441W | 1.000 |
| 9:136011958:C:A | C441F | 1.000 |
| 9:136011958:C:G | C441S | 1.000 |
| 9:136011958:C:T | C441Y | 1.000 |
| 9:136011959:A:G | C441R | 1.000 |
| 9:136011959:A:T | C441S | 1.000 |
| 9:136011960:C:A | M440I | 1.000 |
| 9:136011960:C:G | M440I | 1.000 |
| 9:136011960:C:T | M440I | 1.000 |
| 9:136011961:A:C | M440R | 1.000 |
| 9:136011961:A:G | M440T | 1.000 |
| 9:136011961:A:T | M440K | 1.000 |
| 9:136011963:G:C | D439E | 1.000 |
| 9:136011963:G:T | D439E | 1.000 |
| 9:136011964:T:A | D439V | 1.000 |
| 9:136011964:T:C | D439G | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000031585 (9:136041058 G>A), RS1000087747 (9:136070164 G>T), RS1000097752 (9:136021135 G>A,C), RS1000154102 (9:136056199 C>T), RS1000214021 (9:136058625 G>A,C), RS1000226889 (9:136086693 C>A), RS1000234340 (9:136020363 G>A), RS1000239619 (9:136060211 T>C), RS1000278031 (9:136096078 C>T), RS1000281676 (9:136082586 C>T), RS1000283833 (9:136051659 G>A), RS1000328751 (9:136070033 A>C), RS1000332775 (9:136030334 G>A), RS1000333882 (9:136091082 T>C), RS1000359894 (9:136090459 G>A)
Disease associations
OMIM: gene MIM:615786 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004131_21 | Inflammatory bowel disease | 5.000000e-36 |
| GCST004132_11 | Crohn’s disease | 6.000000e-30 |
| GCST004133_17 | Ulcerative colitis | 2.000000e-16 |
| GCST012796_7 | Sjögren’s syndrome | 5.000000e-06 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
55 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| methylmercuric chloride | increases expression, affects cotreatment | 3 |
| Benzo(a)pyrene | increases expression, affects methylation, decreases methylation | 3 |
| Valproic Acid | increases methylation, decreases expression, increases expression | 3 |
| bisphenol A | affects cotreatment, affects methylation, decreases methylation, increases expression | 2 |
| entinostat | increases expression, affects cotreatment | 2 |
| Acetaminophen | decreases expression | 2 |
| Air Pollutants | affects cotreatment, decreases expression, increases abundance, affects expression | 2 |
| Ozone | affects expression, affects cotreatment, decreases expression, increases abundance | 2 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| TAK-243 | increases sumoylation | 1 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, decreases expression, increases abundance | 1 |
| propionaldehyde | increases expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| testosterone undecanoate | affects cotreatment, decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| methacrylaldehyde | affects cotreatment, decreases expression, increases abundance | 1 |
| cylindrospermopsin | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| PCI 5002 | affects cotreatment, increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Fulvestrant | affects cotreatment, affects methylation | 1 |
| Leflunomide | decreases expression | 1 |
| Acrolein | affects cotreatment, decreases expression, increases abundance | 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): Sjogren syndrome