N4BP2L2
gene geneOn this page
Also known as CG005PFAAP5
Summary
N4BP2L2 (NEDD4 binding protein 2 like 2, HGNC:26916) is a protein-coding gene on chromosome 13q13.1, encoding NEDD4-binding protein 2-like 2 (Q92802).
Enables enzyme binding activity. Involved in negative regulation of hematopoietic stem cell differentiation and positive regulation of hematopoietic stem cell proliferation. Located in nucleus. Part of transcription repressor complex.
Source: NCBI Gene 10443 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 42 total — 1 pathogenic
- MANE Select transcript:
NM_014887
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26916 |
| Approved symbol | N4BP2L2 |
| Name | NEDD4 binding protein 2 like 2 |
| Location | 13q13.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CG005, PFAAP5 |
| Ensembl gene | ENSG00000244754 |
| Ensembl biotype | protein_coding |
| OMIM | 615788 |
| Entrez | 10443 |
Gene structure
Transcript identifiers
Ensembl transcripts: 52 — 26 protein_coding, 13 retained_intron, 7 protein_coding_CDS_not_defined, 6 nonsense_mediated_decay
ENST00000267068, ENST00000357505, ENST00000380121, ENST00000399396, ENST00000446957, ENST00000473025, ENST00000475731, ENST00000483088, ENST00000503296, ENST00000503814, ENST00000504114, ENST00000505213, ENST00000509076, ENST00000511143, ENST00000512755, ENST00000674161, ENST00000674163, ENST00000674180, ENST00000674196, ENST00000674219, ENST00000674272, ENST00000674276, ENST00000674279, ENST00000674293, ENST00000674297, ENST00000674327, ENST00000674346, ENST00000674349, ENST00000674369, ENST00000674377, ENST00000674384, ENST00000674399, ENST00000674408, ENST00000674421, ENST00000674422, ENST00000674428, ENST00000674433, ENST00000674437, ENST00000674452, ENST00000674456, ENST00000674462, ENST00000674465, ENST00000674480, ENST00000674484, ENST00000674494, ENST00000884184, ENST00000884185, ENST00000884186, ENST00000884187, ENST00000884188, ENST00000946928, ENST00000946929
RefSeq mRNA: 35 — MANE Select: NM_014887
NM_001278432, NM_001320836, NM_001387001, NM_001387002, NM_001387008, NM_001387009, NM_001387015, NM_001387016, NM_001387018, NM_001387019, NM_001387020, NM_001387059, NM_001387060, NM_001387079, NM_001387080, NM_001387081, NM_001387082, NM_001387083, NM_001387099, NM_001387100, NM_001387101, NM_001387102, NM_001387103, NM_001387104, NM_001387105, NM_001387106, NM_001387107, NM_001387108, NM_001387165, NM_001387223, NM_001387224, NM_001387225, NM_001395224, NM_014887, NM_033111
CCDS: CCDS45024, CCDS61307, CCDS91796, CCDS91797, CCDS91798, CCDS91799, CCDS9346
Canonical transcript exons
ENST00000267068 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002039054 | 32521373 | 32521449 |
| ENSE00003500014 | 32522182 | 32522270 |
| ENSE00003628457 | 32527408 | 32527532 |
| ENSE00003667303 | 32510292 | 32518003 |
| ENSE00003755930 | 32535769 | 32537027 |
| ENSE00003978141 | 32538618 | 32538795 |
Expression profiles
Bgee: expression breadth ubiquitous, 301 present calls, max score 99.48.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 60.5511 / max 1845.3212, expressed in 1812 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 136715 | 51.8627 | 1801 |
| 136714 | 5.3262 | 1474 |
| 136716 | 2.1882 | 909 |
| 136713 | 0.8175 | 428 |
| 136712 | 0.3564 | 126 |
Top tissues by expression
301 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 99.48 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 99.14 | gold quality |
| nipple | UBERON:0002030 | 98.76 | gold quality |
| tendon | UBERON:0000043 | 98.74 | gold quality |
| cardia of stomach | UBERON:0001162 | 98.42 | gold quality |
| renal medulla | UBERON:0000362 | 98.22 | gold quality |
| colonic epithelium | UBERON:0000397 | 98.22 | gold quality |
| endothelial cell | CL:0000115 | 98.17 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 98.09 | gold quality |
| pylorus | UBERON:0001166 | 98.05 | gold quality |
| parotid gland | UBERON:0001831 | 97.99 | gold quality |
| urethra | UBERON:0000057 | 97.92 | gold quality |
| visceral pleura | UBERON:0002401 | 97.74 | gold quality |
| seminal vesicle | UBERON:0000998 | 97.71 | gold quality |
| sural nerve | UBERON:0015488 | 97.70 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 97.66 | gold quality |
| penis | UBERON:0000989 | 97.64 | gold quality |
| right uterine tube | UBERON:0001302 | 97.58 | gold quality |
| left ovary | UBERON:0002119 | 97.58 | gold quality |
| upper leg skin | UBERON:0004262 | 97.51 | gold quality |
| superficial temporal artery | UBERON:0001614 | 97.49 | gold quality |
| right ovary | UBERON:0002118 | 97.44 | gold quality |
| tibia | UBERON:0000979 | 97.39 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 97.38 | gold quality |
| corpus callosum | UBERON:0002336 | 97.36 | gold quality |
| monocyte | CL:0000576 | 97.35 | gold quality |
| mononuclear cell | CL:0000842 | 97.33 | gold quality |
| dorsal motor nucleus of vagus nerve | UBERON:0002870 | 97.31 | gold quality |
| tonsil | UBERON:0002372 | 97.21 | gold quality |
| adrenal tissue | UBERON:0018303 | 97.21 | gold quality |
Single-cell (SCXA)
Detected in 11 experiment(s), a significant marker in 5.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-1 | yes | 29.42 |
| E-CURD-122 | yes | 20.28 |
| E-MTAB-8142 | yes | 12.83 |
| E-GEOD-125970 | yes | 6.65 |
| E-MTAB-8381 | no | 1307.72 |
| E-GEOD-70580 | no | 1216.88 |
| E-HCAD-36 | no | 1124.22 |
| E-CURD-46 | no | 945.35 |
| E-MTAB-6386 | no | 717.05 |
| E-HCAD-4 | no | 77.70 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
70 targeting N4BP2L2, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-3529-3P | 99.90 | 73.55 | 3045 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-548D-3P | 99.87 | 70.67 | 4362 |
| HSA-MIR-548BB-3P | 99.86 | 70.58 | 4354 |
| HSA-MIR-548AR-3P | 99.85 | 71.26 | 3889 |
| HSA-MIR-548AC | 99.84 | 70.77 | 4351 |
| HSA-MIR-548H-3P | 99.84 | 70.80 | 4349 |
| HSA-MIR-548Z | 99.84 | 70.80 | 4349 |
| 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-3121-3P | 99.82 | 71.96 | 3630 |
Literature-anchored findings (GeneRIF, showing 1)
- Data suggest that expression of PFAAP5 allows neutrophil elastase to potentiate the repression of Gfi1 target genes. (PMID:19506020)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | n4bp2l2 | ENSDARG00000103507 |
| mus_musculus | N4bp2l2 | ENSMUSG00000029655 |
| rattus_norvegicus | N4bp2l2 | ENSRNOG00000001108 |
Paralogs (2): N4BP2 (ENSG00000078177), N4BP2L1 (ENSG00000139597)
Protein
Protein identifiers
NEDD4-binding protein 2-like 2 — Q92802 (reviewed: Q92802)
Alternative names: Phosphonoformate immuno-associated protein 5
All UniProt accessions (17): A0A6I8PL40, A0A6I8PL95, A0A6I8PRE0, A0A6I8PRI0, A0A6I8PRM1, A0A6I8PRP6, A0A6I8PRR0, A0A6I8PRR5, A0A6I8PRT3, A0A6I8PRV3, A0A6I8PRX5, A0A6I8PRY6, A0A6I8PS46, A0A6I8PU16, B4DPY1, D6R968, Q92802
UniProt curated annotations — full annotation on UniProt →
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q92802-1 | 1 | yes |
| Q92802-2 | 2 | |
| Q92802-3 | 3 |
RefSeq proteins (35): NP_001265361, NP_001307765, NP_001373930, NP_001373931, NP_001373937, NP_001373938, NP_001373944, NP_001373945, NP_001373947, NP_001373948, NP_001373949, NP_001373988, NP_001373989, NP_001374008, NP_001374009, NP_001374010, NP_001374011, NP_001374012, NP_001374028, NP_001374029, NP_001374030, NP_001374031, NP_001374032, NP_001374033, NP_001374034, NP_001374035, NP_001374036, NP_001374037, NP_001374094, NP_001374152, NP_001374153, NP_001374154, NP_001382153, NP_055702, NP_149102 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR026302 | NEDD4-bd_p2 | Family |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
Pfam: PF13671
UniProt features (8 total): splice variant 4, chain 1, region of interest 1, coiled-coil region 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q92802-F1 | 55.10 | 0.25 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 201 (showing top):
GOBP_HEMATOPOIETIC_PROGENITOR_CELL_DIFFERENTIATION, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, BASSO_B_LYMPHOCYTE_NETWORK, GOBP_NEGATIVE_REGULATION_OF_STEM_CELL_DIFFERENTIATION, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_BLUE_UP, chr13q13, YY1_Q6, GOBP_STEM_CELL_PROLIFERATION, GOBP_HEMATOPOIETIC_STEM_CELL_DIFFERENTIATION, GOBP_NEGATIVE_REGULATION_OF_HEMATOPOIETIC_PROGENITOR_CELL_DIFFERENTIATION, LINDSTEDT_DENDRITIC_CELL_MATURATION_B, GOBP_IN_UTERO_EMBRYONIC_DEVELOPMENT, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_DN, KOYAMA_SEMA3B_TARGETS_UP, YY1_02
GO Biological Process (5): negative regulation of transcription by RNA polymerase II (GO:0000122), blastocyst development (GO:0001824), positive regulation of hematopoietic stem cell proliferation (GO:1902035), negative regulation of hematopoietic stem cell differentiation (GO:1902037), in utero embryonic development (GO:0001701)
GO Molecular Function (3): transcription corepressor activity (GO:0003714), enzyme binding (GO:0019899), protein binding (GO:0005515)
GO Cellular Component (4): nucleus (GO:0005634), transcription repressor complex (GO:0017053), extracellular exosome (GO:0070062), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| negative regulation of DNA-templated transcription | 2 |
| regulation of transcription by RNA polymerase II | 1 |
| transcription by RNA polymerase II | 1 |
| in utero embryonic development | 1 |
| anatomical structure development | 1 |
| hematopoietic stem cell proliferation | 1 |
| regulation of hematopoietic stem cell proliferation | 1 |
| positive regulation of stem cell proliferation | 1 |
| hematopoietic stem cell differentiation | 1 |
| negative regulation of hematopoietic progenitor cell differentiation | 1 |
| regulation of hematopoietic stem cell differentiation | 1 |
| negative regulation of stem cell differentiation | 1 |
| chordate embryonic development | 1 |
| transcription coregulator activity | 1 |
| protein binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| transcription regulator complex | 1 |
| extracellular vesicle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1229 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| N4BP2L2 | EXOC6B | Q9Y2D4 | 482 |
| N4BP2L2 | ZNF805 | Q5CZA5 | 464 |
| N4BP2L2 | REPS1 | Q96D71 | 449 |
| N4BP2L2 | IRGQ | Q8WZA9 | 431 |
| N4BP2L2 | DPAGT1 | Q9H3H5 | 397 |
| N4BP2L2 | KCTD20 | Q7Z5Y7 | 391 |
| N4BP2L2 | AATF | Q9NY61 | 385 |
| N4BP2L2 | PRR22 | Q8IZ63 | 372 |
| N4BP2L2 | ADPGK | Q9BRR6 | 358 |
| N4BP2L2 | GTF2IRD2B | Q6EKJ0 | 350 |
| N4BP2L2 | GTF2IRD2 | Q86UP8 | 349 |
| N4BP2L2 | RUNDC3A | Q59EK9 | 337 |
| N4BP2L2 | SPIRE1 | Q08AE8 | 333 |
| N4BP2L2 | ARFIP1 | P53367 | 330 |
| N4BP2L2 | RUNDC3B | Q96NL0 | 327 |
IntAct
105 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PRPF4 | PPIH | psi-mi:“MI:0914”(association) | 0.910 |
| RFXANK | RFXAP | psi-mi:“MI:0914”(association) | 0.780 |
| PPIH | N4BP2L2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| N4BP2L2 | PPIH | psi-mi:“MI:0915”(physical association) | 0.720 |
| PRG2 | YPEL5 | psi-mi:“MI:0914”(association) | 0.640 |
| Hoxa1 | N4BP2L2 | psi-mi:“MI:0915”(physical association) | 0.570 |
| LMO2 | N4BP2L2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| N4BP2L2 | HOXA1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| N4BP2L2 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| NAA38 | N4BP2L2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HOXA1 | N4BP2L2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| N4BP2L2 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| N4BP2L2 | NAA38 | psi-mi:“MI:0915”(physical association) | 0.560 |
| N4BP2L2 | PPIL1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MRPS18C | MRPS14 | psi-mi:“MI:0914”(association) | 0.530 |
| PIP | TBKBP1 | psi-mi:“MI:0914”(association) | 0.530 |
| N4BP2L2 | bipA | psi-mi:“MI:0915”(physical association) | 0.370 |
| N4BP2L2 | rep | psi-mi:“MI:0915”(physical association) | 0.370 |
| N4BP2L2 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| EGLN3 | FAM168B | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (103): N4BP2L2 (Two-hybrid), N4BP2L2 (Two-hybrid), PPIH (Two-hybrid), NAA38 (Two-hybrid), N4BP2L2 (Affinity Capture-MS), N4BP2L2 (Affinity Capture-MS), N4BP2L2 (Affinity Capture-MS), N4BP2L2 (Affinity Capture-MS), N4BP2L2 (Affinity Capture-MS), Hoxa1 (Affinity Capture-Western), PPIA (Two-hybrid), N4BP2L2 (Affinity Capture-MS), N4BP2L2 (Affinity Capture-MS), N4BP2L2 (Affinity Capture-MS), N4BP2L2 (Affinity Capture-MS)
ESM2 similar proteins: A0A140LFM6, A0A2K1JJ00, A0JMD2, A4H824, A5WWA0, A9ZPC9, B0S6S9, D3ZJ47, H0WFA5, O70343, P15822, P24433, P31629, P48437, Q0P4S0, Q0VAV2, Q15468, Q1LV19, Q1LY84, Q4V7H1, Q5RD08, Q5SWW4, Q60988, Q62417, Q66H65, Q6DFV3, Q6ZPK7, Q71RC2, Q80TY4, Q80U59, Q865B6, Q865B7, Q8JZS6, Q8K3V7, Q8LFU0, Q8VY64, Q91018, Q92786, Q92802, Q93ZL5
Diamond homologs: Q29S05, Q3V2Q8, Q5TBK1, Q66H65, Q86UW6, Q8JZS6, Q92802, P13233, O64843, O74840, Q08954, Q9UTP4
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
42 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 20 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 599575 | NM_001278432.2(N4BP2L2):c.1406dup (p.Asn469fs) | Pathogenic |
SpliceAI
1211 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 13:32517866:C:A | donor_gain | 1.0000 |
| 13:32521371:A:AC | donor_gain | 1.0000 |
| 13:32521372:C:CC | donor_gain | 1.0000 |
| 13:32521372:CTTTT:C | donor_gain | 1.0000 |
| 13:32522163:T:A | donor_gain | 1.0000 |
| 13:32522181:CCA:C | donor_gain | 1.0000 |
| 13:32522186:T:TA | donor_gain | 1.0000 |
| 13:32522268:TTG:T | acceptor_gain | 1.0000 |
| 13:32522271:C:CC | acceptor_gain | 1.0000 |
| 13:32522281:A:C | acceptor_gain | 1.0000 |
| 13:32527394:AGC:A | donor_gain | 1.0000 |
| 13:32537025:CAT:C | acceptor_gain | 1.0000 |
| 13:32521372:CTT:C | donor_gain | 0.9900 |
| 13:32521448:GCCTA:G | acceptor_loss | 0.9900 |
| 13:32521449:CCT:C | acceptor_loss | 0.9900 |
| 13:32522181:C:CT | donor_gain | 0.9900 |
| 13:32522266:TTTTG:T | acceptor_gain | 0.9900 |
| 13:32522267:TTTG:T | acceptor_gain | 0.9900 |
| 13:32522269:TG:T | acceptor_gain | 0.9900 |
| 13:32522269:TGC:T | acceptor_loss | 0.9900 |
| 13:32522271:C:T | acceptor_loss | 0.9900 |
| 13:32522272:T:A | acceptor_loss | 0.9900 |
| 13:32522281:A:AC | acceptor_gain | 0.9900 |
| 13:32522283:A:C | acceptor_gain | 0.9900 |
| 13:32527394:AG:A | donor_gain | 0.9900 |
| 13:32527395:G:C | donor_gain | 0.9900 |
| 13:32527531:TT:T | acceptor_gain | 0.9900 |
| 13:32527533:C:CC | acceptor_gain | 0.9900 |
| 13:32537026:ATCT:A | acceptor_loss | 0.9900 |
| 13:32537027:TCTGA:T | acceptor_loss | 0.9900 |
AlphaMissense
3937 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 13:32521399:C:A | W508C | 0.999 |
| 13:32521399:C:G | W508C | 0.999 |
| 13:32521401:A:G | W508R | 0.999 |
| 13:32521401:A:T | W508R | 0.999 |
| 13:32522206:C:A | W483C | 0.999 |
| 13:32522206:C:G | W483C | 0.999 |
| 13:32522208:A:G | W483R | 0.999 |
| 13:32522208:A:T | W483R | 0.999 |
| 13:32522224:G:C | N477K | 0.999 |
| 13:32522224:G:T | N477K | 0.999 |
| 13:32522228:T:A | D476V | 0.999 |
| 13:32522231:A:T | I475K | 0.999 |
| 13:32522234:A:T | I474K | 0.999 |
| 13:32522237:A:T | V473D | 0.999 |
| 13:32527478:A:C | F438L | 0.999 |
| 13:32527478:A:T | F438L | 0.999 |
| 13:32527479:A:G | F438S | 0.999 |
| 13:32527480:A:G | F438L | 0.999 |
| 13:32535784:T:A | K415I | 0.999 |
| 13:32517962:A:G | M531T | 0.998 |
| 13:32521379:A:G | L515S | 0.998 |
| 13:32521412:G:T | P504H | 0.998 |
| 13:32521420:A:C | F501L | 0.998 |
| 13:32521420:A:T | F501L | 0.998 |
| 13:32521421:A:G | F501S | 0.998 |
| 13:32521422:A:G | F501L | 0.998 |
| 13:32521448:G:T | A492D | 0.998 |
| 13:32522218:A:C | N479K | 0.998 |
| 13:32522218:A:T | N479K | 0.998 |
| 13:32522229:C:G | D476H | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000012513 (13:32533947 G>T), RS1000023203 (13:32491377 A>G), RS1000033775 (13:32474407 C>T), RS1000034790 (13:32435189 CT>C), RS1000053451 (13:32484312 G>A,C), RS1000109786 (13:32446287 G>A,C,T), RS1000143571 (13:32517533 A>G), RS1000158592 (13:32534542 TTCA>T), RS1000171200 (13:32456271 C>T), RS1000228527 (13:32464377 A>G), RS1000241441 (13:32506745 A>G), RS1000247237 (13:32501120 G>A), RS1000265854 (13:32514668 G>A), RS1000277887 (13:32477470 C>A), RS1000302628 (13:32500863 TTC>T)
Disease associations
OMIM: gene MIM:615788 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
8 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001937_19 | Breast cancer | 5.000000e-08 |
| GCST005196_74 | Coronary artery disease | 7.000000e-11 |
| GCST006612_83 | LDL cholesterol | 2.000000e-14 |
| GCST006979_1094 | Heel bone mineral density | 2.000000e-12 |
| GCST007010_2 | Logical memory (delayed recall) | 1.000000e-06 |
| GCST010866_102 | Coronary artery disease | 3.000000e-09 |
| GCST010988_464 | Adult body size | 3.000000e-13 |
| GCST011365_2 | Myocardial infarction | 4.000000e-08 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004611 | low density lipoprotein cholesterol measurement |
| EFO:0009270 | heel bone mineral density |
| EFO:0004874 | memory performance |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
63 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression, decreases expression, decreases methylation | 5 |
| sodium arsenite | decreases expression, affects cotreatment, increases abundance, increases expression | 3 |
| mercuric bromide | increases expression, affects cotreatment | 2 |
| Arsenic | affects cotreatment, increases abundance, decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression, increases expression | 2 |
| Aflatoxin B1 | decreases methylation | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| TAK-243 | increases sumoylation | 1 |
| dicrotophos | decreases expression | 1 |
| testosterone enanthate | affects expression | 1 |
| methylmercuric chloride | increases expression, decreases expression | 1 |
| trichostatin A | increases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| tamibarotene | decreases expression | 1 |
| pentabromodiphenyl ether | increases expression | 1 |
| JP8 aviation fuel | 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 |
| ICG 001 | increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine | increases response to substance, increases expression | 1 |
| jinfukang | decreases expression | 1 |
| NSC 689534 | affects binding, increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| PCI 5002 | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Vorinostat | increases expression | 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.