NAB1
gene geneOn this page
Summary
NAB1 (NGFI-A binding protein 1, HGNC:7626) is a protein-coding gene on chromosome 2q32.2, encoding NGFI-A-binding protein 1 (Q13506). Acts as a transcriptional repressor for zinc finger transcription factors EGR1 and EGR2.
Predicted to enable transcription coregulator activity. Predicted to be involved in regulation of DNA-templated transcription. Predicted to act upstream of or within endochondral ossification; nervous system development; and regulation of epidermis development. Predicted to be located in nucleoplasm. Predicted to be active in nucleus.
Source: NCBI Gene 4664 — RefSeq curated summary.
At a glance
- GWAS associations: 21
- Clinical variants (ClinVar): 64 total
- MANE Select transcript:
NM_005966
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:7626 |
| Approved symbol | NAB1 |
| Name | NGFI-A binding protein 1 |
| Location | 2q32.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000138386 |
| Ensembl biotype | protein_coding |
| OMIM | 600800 |
| Entrez | 4664 |
Gene structure
Transcript identifiers
Ensembl transcripts: 63 — 62 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000337386, ENST00000409581, ENST00000409641, ENST00000416973, ENST00000423076, ENST00000423376, ENST00000426601, ENST00000434473, ENST00000448811, ENST00000484774, ENST00000903108, ENST00000903109, ENST00000903110, ENST00000903111, ENST00000903112, ENST00000903113, ENST00000903114, ENST00000903115, ENST00000903116, ENST00000903117, ENST00000903118, ENST00000903119, ENST00000903120, ENST00000903121, ENST00000903122, ENST00000903123, ENST00000903124, ENST00000903125, ENST00000903126, ENST00000903127, ENST00000903128, ENST00000903129, ENST00000903130, ENST00000903131, ENST00000903132, ENST00000903133, ENST00000903134, ENST00000903135, ENST00000903136, ENST00000903137, ENST00000903138, ENST00000903139, ENST00000920767, ENST00000920768, ENST00000920769, ENST00000920770, ENST00000920771, ENST00000920772, ENST00000920773, ENST00000920774, ENST00000920775, ENST00000960766, ENST00000960767, ENST00000960768, ENST00000960769, ENST00000960770, ENST00000960771, ENST00000960772, ENST00000960773, ENST00000960774, ENST00000960775, ENST00000960776, ENST00000960777
RefSeq mRNA: 5 — MANE Select: NM_005966
NM_001321312, NM_001321313, NM_001321314, NM_001321315, NM_005966
CCDS: CCDS2307, CCDS82545
Canonical transcript exons
ENST00000337386 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000934468 | 190687201 | 190687317 |
| ENSE00000934471 | 190673101 | 190673152 |
| ENSE00000934472 | 190670326 | 190670459 |
| ENSE00000934473 | 190659158 | 190659995 |
| ENSE00001129482 | 190685476 | 190685638 |
| ENSE00001300540 | 190655977 | 190656153 |
| ENSE00001323207 | 190649846 | 190649982 |
| ENSE00001827629 | 190690245 | 190692766 |
| ENSE00001829865 | 190649083 | 190649360 |
| ENSE00003505637 | 190683738 | 190683827 |
Expression profiles
Bgee: expression breadth ubiquitous, 290 present calls, max score 96.55.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.9239 / max 82.7082, expressed in 1705 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 24311 | 4.8562 | 1591 |
| 24310 | 1.1739 | 684 |
| 24312 | 0.5933 | 291 |
| 24313 | 0.3005 | 102 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ganglionic eminence | UBERON:0004023 | 96.55 | gold quality |
| skin of hip | UBERON:0001554 | 96.40 | gold quality |
| upper leg skin | UBERON:0004262 | 96.20 | gold quality |
| calcaneal tendon | UBERON:0003701 | 94.88 | gold quality |
| endothelial cell | CL:0000115 | 94.64 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 94.59 | gold quality |
| cortical plate | UBERON:0005343 | 94.26 | gold quality |
| ventricular zone | UBERON:0003053 | 93.54 | gold quality |
| colonic epithelium | UBERON:0000397 | 93.35 | gold quality |
| cranial nerve II | UBERON:0000941 | 93.22 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 93.19 | gold quality |
| tendon | UBERON:0000043 | 93.17 | gold quality |
| gingiva | UBERON:0001828 | 93.16 | gold quality |
| gingival epithelium | UBERON:0001949 | 93.12 | gold quality |
| right coronary artery | UBERON:0001625 | 92.71 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 92.57 | gold quality |
| parietal pleura | UBERON:0002400 | 92.52 | gold quality |
| cerebellar vermis | UBERON:0004720 | 92.50 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 92.47 | gold quality |
| bronchial epithelial cell | CL:0002328 | 92.30 | gold quality |
| skin of abdomen | UBERON:0001416 | 92.25 | gold quality |
| oral cavity | UBERON:0000167 | 92.21 | gold quality |
| hair follicle | UBERON:0002073 | 92.21 | gold quality |
| pleura | UBERON:0000977 | 92.11 | gold quality |
| embryo | UBERON:0000922 | 92.00 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 91.85 | gold quality |
| zone of skin | UBERON:0000014 | 91.84 | gold quality |
| popliteal artery | UBERON:0002250 | 91.76 | gold quality |
| tibial artery | UBERON:0007610 | 91.76 | gold quality |
| sural nerve | UBERON:0015488 | 91.71 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
1 targets.
| Target | Regulation |
|---|---|
| MSLN | Unknown |
Upstream regulators (CollecTRI, top): EGR2
miRNA regulators (miRDB)
185 targeting NAB1, 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-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3064-3P | 100.00 | 70.09 | 1254 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| 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 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
Literature-anchored findings (GeneRIF, showing 5)
- mutations in the human NABI gene are most likely not involved in the pathogenesis of peripheral neuropathies. (PMID:12030330)
- Methylation pattern of the corresponding NGFI-A binding site in the human glucocorticoid receptor exon 1-F specific promoter in post mortem hippocampal tissue. (PMID:17853270)
- Data show that the suppressive effect of valproic acid on chondrocytes is not due to reduced expression or recruitment of Egr-1 to the mPGES-1 promoter and involves upregulation of NAB1. (PMID:21239760)
- These data suggest that type I IFN stimulation induces a rapid recruitment of a repressive Egr3/Nab1 complex that silences transcription from the ifngr1 promoter. (PMID:23935197)
- N6-Methyladenosine modified circ-NAB1 modulates cell cycle and epithelial-mesenchymal transition via CDKN3 in endometrial cancer. (PMID:38814199)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | nab1b | ENSDARG00000040700 |
| danio_rerio | nab1a | ENSDARG00000042940 |
| mus_musculus | Nab1 | ENSMUSG00000002881 |
| rattus_norvegicus | Nab1 | ENSRNOG00000012959 |
| drosophila_melanogaster | nab | FBGN0259986 |
| caenorhabditis_elegans | WBGENE00003107 |
Paralogs (1): NAB2 (ENSG00000166886)
Protein
Protein identifiers
NGFI-A-binding protein 1 — Q13506 (reviewed: Q13506)
Alternative names: EGR-1-binding protein 1, Transcriptional regulatory protein p54
All UniProt accessions (8): Q13506, B8ZZS2, C9J3V0, C9JFF6, C9JID4, C9JJ42, C9JL92, H0Y4C5
UniProt curated annotations — full annotation on UniProt →
Function. Acts as a transcriptional repressor for zinc finger transcription factors EGR1 and EGR2.
Subunit / interactions. Homomultimers may associate with EGR1 bound to DNA.
Subcellular location. Nucleus.
Tissue specificity. Isoform Short is found in myeloid leukemia cell line KG-1.
Domain organisation. The NAB conserved domain 1 (NCD1) interacts with EGR1 inhibitory domain and mediates multimerization. The NAB conserved domain 2 (NCD2) is necessary for transcriptional repression.
Similarity. Belongs to the NAB family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q13506-1 | Long | yes |
| Q13506-2 | Short |
RefSeq proteins (5): NP_001308241, NP_001308242, NP_001308243, NP_001308244, NP_005957* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006986 | Nab1_C | Domain |
| IPR006988 | Nab_N | Domain |
| IPR006989 | NAB_co-repressor_dom | Domain |
| IPR038398 | NCD2_sf | Homologous_superfamily |
| IPR039040 | NAB_fam | Family |
Pfam: PF04902, PF04904, PF04905
UniProt features (37 total): cross-link 14, helix 8, region of interest 5, modified residue 4, sequence conflict 2, chain 1, splice variant 1, strand 1, compositionally biased region 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2YUF | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q13506-F1 | 64.90 | 0.32 |
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 (18): 407, 126, 129, 143, 212, 333, 333, 355, 369, 373, 454, 465, 477, 480, 480, 172, 183, 328
Function
Pathways and Gene Ontology
Reactome pathways
9 pathways
| ID | Pathway |
|---|---|
| R-HSA-9031628 | NGF-stimulated transcription |
| R-HSA-9619665 | EGR2 and SOX10-mediated initiation of Schwann cell myelination |
| R-HSA-1266738 | Developmental Biology |
| R-HSA-162582 | Signal Transduction |
| R-HSA-166520 | Signaling by NTRKs |
| R-HSA-187037 | Signaling by NTRK1 (TRKA) |
| R-HSA-198725 | Nuclear Events (kinase and transcription factor activation) |
| R-HSA-9006934 | Signaling by Receptor Tyrosine Kinases |
| R-HSA-9675108 | Nervous system development |
MSigDB gene sets: 326 (showing top):
GGGACCA_MIR133A_MIR133B, JI_RESPONSE_TO_FSH_UP, GCM_GSPT1, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_REGULATION_OF_EPIDERMIS_DEVELOPMENT, GOZGIT_ESR1_TARGETS_DN, GCM_ZNF198, GOBP_NEUROGENESIS, HEIDENBLAD_AMPLICON_8Q24_DN, GOBP_REPLACEMENT_OSSIFICATION, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_BONE_DEVELOPMENT, WANG_RESPONSE_TO_BEXAROTENE_DN, GOBP_ENSHEATHMENT_OF_NEURONS, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_UP
GO Biological Process (6): endochondral ossification (GO:0001958), regulation of DNA-templated transcription (GO:0006355), Schwann cell differentiation (GO:0014037), myelination (GO:0042552), regulation of epidermis development (GO:0045682), negative regulation of DNA-templated transcription (GO:0045892)
GO Molecular Function (1): transcription coregulator activity (GO:0003712)
GO Cellular Component (2): nucleus (GO:0005634), nucleoplasm (GO:0005654)
Reactome top-level categories
Rollup of top-7 pathways:
| Category | Pathways |
|---|---|
| Nuclear Events (kinase and transcription factor activation) | 1 |
| Nervous system development | 1 |
| Signaling by Receptor Tyrosine Kinases | 1 |
| Signaling by NTRKs | 1 |
| Signaling by NTRK1 (TRKA) | 1 |
| Signal Transduction | 1 |
| Developmental Biology | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| DNA-templated transcription | 2 |
| replacement ossification | 1 |
| endochondral bone morphogenesis | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| peripheral nervous system development | 1 |
| glial cell differentiation | 1 |
| axon ensheathment | 1 |
| epidermis development | 1 |
| regulation of developmental process | 1 |
| regulation of DNA-templated transcription | 1 |
| negative regulation of RNA biosynthetic process | 1 |
| transcription regulator activity | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
626 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NAB1 | EGR2 | P11161 | 957 |
| NAB1 | EGR3 | Q06889 | 950 |
| NAB1 | EGR1 | P18146 | 941 |
| NAB1 | EGR4 | Q05215 | 880 |
| NAB1 | STAT2 | P52630 | 584 |
| NAB1 | STAT4 | Q14765 | 569 |
| NAB1 | STAT6 | P42226 | 518 |
| NAB1 | STAT1 | P42224 | 478 |
| NAB1 | NGF | P01138 | 472 |
| NAB1 | ANKRD36 | A6QL64 | 444 |
| NAB1 | FKBP14 | Q9NWM8 | 425 |
| NAB1 | PPRC1 | Q5VV67 | 424 |
| NAB1 | NEMP2 | A6NFY4 | 413 |
| NAB1 | TCF3 | P15883 | 408 |
| NAB1 | MFSD6 | Q6ZSS7 | 399 |
IntAct
14 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NAB1 | SDHA | psi-mi:“MI:0915”(physical association) | 0.400 |
| NAB1 | POU2AF1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| Ppp2r1a | CCHCR1 | psi-mi:“MI:0914”(association) | 0.350 |
| Racgap1 | DDX3X | psi-mi:“MI:0914”(association) | 0.350 |
| Mkln1 | NNT | psi-mi:“MI:0914”(association) | 0.350 |
| CPAP | CCP110 | psi-mi:“MI:0914”(association) | 0.350 |
| NAB2 | GLS | psi-mi:“MI:0914”(association) | 0.350 |
| AKTIP | PGGT1B | psi-mi:“MI:0914”(association) | 0.350 |
| EGR1 | NAB1 | psi-mi:“MI:0914”(association) | 0.350 |
| EEF1AKMT3 | SMCHD1 | psi-mi:“MI:0914”(association) | 0.350 |
| PRICKLE4 | USO1 | psi-mi:“MI:0914”(association) | 0.350 |
| MVK | NAB1 | psi-mi:“MI:0914”(association) | 0.350 |
| NAB1 | gptB | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (43): NAB1 (Affinity Capture-RNA), NAB1 (Affinity Capture-RNA), NAB1 (Affinity Capture-RNA), NAB1 (Affinity Capture-RNA), NAB1 (Affinity Capture-MS), NAB1 (Synthetic Growth Defect), NAB1 (Affinity Capture-MS), NAB1 (Affinity Capture-MS), NAB1 (Affinity Capture-MS), NAB1 (Affinity Capture-MS), NAB1 (Affinity Capture-MS), NAB1 (Affinity Capture-MS), NAB1 (Affinity Capture-MS), NAB1 (Affinity Capture-RNA), NAB1 (Affinity Capture-MS)
ESM2 similar proteins: A0FIN4, A2VD01, A9ZLX4, D2HNW6, D4A7U2, O88974, O94988, P10914, P14316, P15314, P16236, P17433, P17947, P23570, P23906, P49140, Q00IB7, Q13506, Q13905, Q15047, Q1LY51, Q3B7M3, Q3SZP0, Q3TTA7, Q3UWM4, Q4V7W5, Q5HYC2, Q5RJA1, Q5XJV7, Q61122, Q62722, Q6A098, Q6AI12, Q6BDS1, Q6DFR2, Q6GQL0, Q6PKU1, Q6ZMT4, Q6ZNC4, Q80TJ7
Diamond homologs: O35589, Q13506, Q15742, Q59E55, Q61122, Q61127, Q62722, Q22002
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
64 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 52 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1155 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:190670306:ACTCT:A | acceptor_gain | 1.0000 |
| 2:190670310:T:TA | acceptor_gain | 1.0000 |
| 2:190670315:T:TA | acceptor_gain | 1.0000 |
| 2:190670316:G:A | acceptor_gain | 1.0000 |
| 2:190670320:A:AG | acceptor_gain | 1.0000 |
| 2:190670321:T:G | acceptor_gain | 1.0000 |
| 2:190670321:TCCA:T | acceptor_loss | 1.0000 |
| 2:190670323:CA:C | acceptor_loss | 1.0000 |
| 2:190670324:A:AG | acceptor_gain | 1.0000 |
| 2:190670324:AGCT:A | acceptor_loss | 1.0000 |
| 2:190670325:G:GG | acceptor_gain | 1.0000 |
| 2:190670325:GC:G | acceptor_gain | 1.0000 |
| 2:190670325:GCT:G | acceptor_gain | 1.0000 |
| 2:190670325:GCTC:G | acceptor_gain | 1.0000 |
| 2:190670325:GCTCA:G | acceptor_gain | 1.0000 |
| 2:190670455:ACCAA:A | donor_gain | 1.0000 |
| 2:190670456:CCAA:C | donor_gain | 1.0000 |
| 2:190670457:CAA:C | donor_gain | 1.0000 |
| 2:190670458:AA:A | donor_gain | 1.0000 |
| 2:190670459:AGTA:A | donor_loss | 1.0000 |
| 2:190670460:G:GG | donor_gain | 1.0000 |
| 2:190670460:GT:G | donor_loss | 1.0000 |
| 2:190670464:G:GG | donor_gain | 1.0000 |
| 2:190685467:A:AG | acceptor_gain | 1.0000 |
| 2:190685470:TACTA:T | acceptor_loss | 1.0000 |
| 2:190685471:ACTAG:A | acceptor_loss | 1.0000 |
| 2:190685472:CTAGC:C | acceptor_loss | 1.0000 |
| 2:190685473:TAGC:T | acceptor_loss | 1.0000 |
| 2:190685473:TAGCA:T | acceptor_gain | 1.0000 |
| 2:190685474:A:AG | acceptor_gain | 1.0000 |
AlphaMissense
3194 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:190659204:G:A | G10R | 1.000 |
| 2:190659204:G:C | G10R | 1.000 |
| 2:190659217:T:A | L14Q | 1.000 |
| 2:190659217:T:C | L14P | 1.000 |
| 2:190659226:T:A | I17K | 1.000 |
| 2:190659226:T:G | I17R | 1.000 |
| 2:190659229:T:C | L18S | 1.000 |
| 2:190659244:T:A | L23Q | 1.000 |
| 2:190659244:T:C | L23P | 1.000 |
| 2:190659265:T:C | F30S | 1.000 |
| 2:190659276:G:A | G34S | 1.000 |
| 2:190659276:G:C | G34R | 1.000 |
| 2:190659276:G:T | G34C | 1.000 |
| 2:190659277:G:A | G34D | 1.000 |
| 2:190659277:G:T | G34V | 1.000 |
| 2:190659279:G:C | G35R | 1.000 |
| 2:190659279:G:T | G35C | 1.000 |
| 2:190659280:G:A | G35D | 1.000 |
| 2:190659280:G:T | G35V | 1.000 |
| 2:190659282:G:C | D36H | 1.000 |
| 2:190659282:G:T | D36Y | 1.000 |
| 2:190659283:A:C | D36A | 1.000 |
| 2:190659283:A:G | D36G | 1.000 |
| 2:190659283:A:T | D36V | 1.000 |
| 2:190659284:T:A | D36E | 1.000 |
| 2:190659284:T:G | D36E | 1.000 |
| 2:190659285:G:C | D37H | 1.000 |
| 2:190659286:A:C | D37A | 1.000 |
| 2:190659286:A:G | D37G | 1.000 |
| 2:190659286:A:T | D37V | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000001698 (2:190676069 T>A), RS1000037170 (2:190676458 G>A), RS1000067459 (2:190647508 CTT>C), RS1000088218 (2:190662474 A>T), RS1000093194 (2:190647805 C>T), RS1000095308 (2:190683513 G>A), RS1000360898 (2:190667222 A>G), RS1000485622 (2:190672528 C>T), RS1000633112 (2:190678007 G>A), RS1000687189 (2:190664232 G>A,T), RS1000724138 (2:190664841 C>G), RS1000745785 (2:190665954 C>G), RS1000789156 (2:190650076 A>G), RS1000973373 (2:190688435 T>C), RS1001032137 (2:190679940 G>A)
Disease associations
OMIM: gene MIM:600800 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
21 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003129_7 | Primary biliary cholangitis | 2.000000e-14 |
| GCST003518_14 | Daytime sleep phenotypes | 3.000000e-06 |
| GCST003654_5 | Bone mineral density (Ward’s triangle area) | 7.000000e-07 |
| GCST006052_5 | Polymyositis | 4.000000e-06 |
| GCST006979_50 | Heel bone mineral density | 5.000000e-14 |
| GCST007094_193 | Diastolic blood pressure | 2.000000e-06 |
| GCST007095_1 | Systolic blood pressure | 9.000000e-06 |
| GCST007095_94 | Systolic blood pressure | 3.000000e-07 |
| GCST007096_38 | Pulse pressure | 1.000000e-10 |
| GCST007097_55 | Pulse pressure | 3.000000e-06 |
| GCST007097_56 | Pulse pressure | 1.000000e-06 |
| GCST007099_203 | Systolic blood pressure | 5.000000e-13 |
| GCST007267_293 | Systolic blood pressure | 3.000000e-09 |
| GCST007278_7 | Systemic seropositive rheumatic diseases (Systemic sclerosis or systemic lupus erythematosus or rheumatoid arthritis or idiopathic inflammatory myopathies) | 7.000000e-11 |
| GCST009131_4 | Systemic sclerosis | 5.000000e-09 |
| GCST009597_200 | Multiple sclerosis | 6.000000e-06 |
| GCST009873_29 | Autoimmune traits (pleiotropy) | 2.000000e-08 |
| GCST009877_13 | Rheumatoid arthritis | 1.000000e-08 |
| GCST011096_35 | Systemic lupus erythematosus | 1.000000e-13 |
| GCST011097_1 | Systemic lupus erythematosus | 7.000000e-09 |
| GCST90011866_10 | Systemic lupus erythematosus | 3.000000e-06 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007828 | daytime rest measurement |
| EFO:0007785 | femoral neck bone mineral density |
| EFO:0009270 | heel bone mineral density |
| EFO:0006336 | diastolic blood pressure |
| EFO:0006335 | systolic blood pressure |
| EFO:0005763 | pulse pressure measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
47 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases abundance, decreases expression, affects cotreatment | 3 |
| entinostat | decreases expression, affects cotreatment | 2 |
| Arsenic | affects cotreatment, decreases expression, increases abundance | 2 |
| Tamoxifen | affects expression, affects cotreatment, increases expression | 2 |
| Cadmium Chloride | decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| TAK-243 | decreases sumoylation | 1 |
| dicrotophos | decreases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| coumarin | increases phosphorylation | 1 |
| beta-methylcholine | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Zoledronic Acid | increases expression | 1 |
| Air Pollutants | increases abundance, decreases expression | 1 |
| Benzene | increases expression | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Caffeine | affects phosphorylation | 1 |
| Cisplatin | affects response to substance | 1 |
| Coumestrol | increases expression, affects cotreatment | 1 |
| Demecolcine | 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): autoimmune disease, myositis disease, polymyositis