NECAP2
gene geneOn this page
Also known as FLJ10420
Summary
NECAP2 (NECAP endocytosis associated 2, HGNC:25528) is a protein-coding gene on chromosome 1p36.13, encoding Adaptin ear-binding coat-associated protein 2 (Q9NVZ3). Involved in endocytosis.
This gene likely encodes a member of the adaptin-ear-binding coat-associated protein family. Studies of a similar protein in rat suggest a role in clathrin-mediated endocytosis. Alternatively spliced transcript variants have been described.
Source: NCBI Gene 55707 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 54 total
- MANE Select transcript:
NM_018090
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25528 |
| Approved symbol | NECAP2 |
| Name | NECAP endocytosis associated 2 |
| Location | 1p36.13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ10420 |
| Ensembl gene | ENSG00000157191 |
| Ensembl biotype | protein_coding |
| OMIM | 611624 |
| Entrez | 55707 |
Gene structure
Transcript identifiers
Ensembl transcripts: 18 — 10 protein_coding, 4 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined, 2 retained_intron
ENST00000337132, ENST00000443980, ENST00000457722, ENST00000459640, ENST00000486390, ENST00000492095, ENST00000496239, ENST00000504551, ENST00000504858, ENST00000508680, ENST00000509727, ENST00000513161, ENST00000893001, ENST00000893002, ENST00000916911, ENST00000916912, ENST00000966887, ENST00000966888
RefSeq mRNA: 3 — MANE Select: NM_018090
NM_001145277, NM_001145278, NM_018090
CCDS: CCDS173, CCDS44066, CCDS44067
Canonical transcript exons
ENST00000337132 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001697570 | 16440724 | 16440853 |
| ENSE00001816052 | 16458842 | 16460078 |
| ENSE00003460799 | 16449093 | 16449201 |
| ENSE00003467332 | 16443632 | 16443732 |
| ENSE00003469983 | 16448060 | 16448141 |
| ENSE00003510922 | 16447870 | 16447974 |
| ENSE00003551458 | 16455818 | 16455893 |
| ENSE00003603219 | 16451838 | 16452015 |
Expression profiles
Bgee: expression breadth ubiquitous, 262 present calls, max score 97.50.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 49.3892 / max 302.6389, expressed in 1826 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 969 | 47.9434 | 1826 |
| 968 | 1.4458 | 808 |
Top tissues by expression
280 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| oocyte | CL:0000023 | 97.50 | gold quality |
| granulocyte | CL:0000094 | 97.27 | gold quality |
| leukocyte | CL:0000738 | 96.41 | gold quality |
| monocyte | CL:0000576 | 96.40 | gold quality |
| mononuclear cell | CL:0000842 | 96.34 | gold quality |
| spleen | UBERON:0002106 | 96.09 | gold quality |
| lymph node | UBERON:0000029 | 96.08 | gold quality |
| secondary oocyte | CL:0000655 | 94.94 | gold quality |
| vermiform appendix | UBERON:0001154 | 94.67 | gold quality |
| stromal cell of endometrium | CL:0002255 | 94.53 | gold quality |
| right lung | UBERON:0002167 | 94.24 | gold quality |
| blood | UBERON:0000178 | 94.06 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 94.06 | gold quality |
| skin of leg | UBERON:0001511 | 93.81 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 93.77 | gold quality |
| right ovary | UBERON:0002118 | 93.60 | gold quality |
| upper lobe of lung | UBERON:0008948 | 93.59 | gold quality |
| caecum | UBERON:0001153 | 93.39 | gold quality |
| skin of abdomen | UBERON:0001416 | 93.39 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 93.28 | gold quality |
| left ovary | UBERON:0002119 | 93.08 | gold quality |
| omental fat pad | UBERON:0010414 | 93.04 | gold quality |
| right adrenal gland | UBERON:0001233 | 93.02 | gold quality |
| peritoneum | UBERON:0002358 | 93.02 | gold quality |
| gall bladder | UBERON:0002110 | 92.85 | gold quality |
| left adrenal gland | UBERON:0001234 | 92.80 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 92.79 | gold quality |
| adrenal tissue | UBERON:0018303 | 92.78 | gold quality |
| right testis | UBERON:0004534 | 92.69 | gold quality |
| esophagus mucosa | UBERON:0002469 | 92.63 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.89 |
| E-MTAB-5061 | no | 3.52 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
53 targeting NECAP2, 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-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-7152-3P | 99.97 | 67.47 | 849 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-141-3P | 99.94 | 72.79 | 2421 |
| HSA-MIR-200A-3P | 99.94 | 72.68 | 2420 |
| HSA-MIR-450B-5P | 99.92 | 71.48 | 3175 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-10523-5P | 99.91 | 69.22 | 2038 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-4302 | 99.89 | 67.94 | 1187 |
| HSA-MIR-3065-3P | 99.87 | 70.25 | 1407 |
| HSA-MIR-383-3P | 99.85 | 65.84 | 1359 |
| HSA-MIR-4659A-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4659B-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4428 | 99.73 | 66.41 | 1733 |
| HSA-MIR-518A-5P | 99.70 | 69.01 | 2209 |
| HSA-MIR-527 | 99.70 | 69.01 | 2209 |
| HSA-MIR-497-3P | 99.61 | 69.71 | 1990 |
| HSA-MIR-4261 | 99.59 | 70.30 | 3415 |
| HSA-MIR-3942-3P | 99.57 | 69.03 | 2854 |
| HSA-MIR-1275 | 99.47 | 67.90 | 2749 |
| HSA-MIR-3915 | 99.45 | 68.49 | 1905 |
| HSA-MIR-584-3P | 99.35 | 67.69 | 1082 |
| HSA-MIR-4667-3P | 99.26 | 65.45 | 1608 |
| HSA-MIR-7109-5P | 99.18 | 66.13 | 1057 |
Literature-anchored findings (GeneRIF, showing 2)
- Describes identification and characterization of rat NECAP1 and NECAP2 and their roles in endocytosis. (PMID:14555962)
- NECAP2 does not regulate the clathrin-mediated endocytosis of these cargos, the degradation of EGFR or the recycling of transferrin along the slow, Rab11-dependent recycling pathway. We show that protein knockdown of NECAP2 leads to enlarged early endosomes and causes the loss of the clathrin adapter AP-1 from the organelle. (PMID:27206861)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | necap2 | ENSDARG00000046002 |
| mus_musculus | Necap2 | ENSMUSG00000028923 |
| rattus_norvegicus | Necap2 | ENSRNOG00000008427 |
| drosophila_melanogaster | CG9132 | FBGN0030791 |
| caenorhabditis_elegans | WBGENE00022453 |
Paralogs (1): NECAP1 (ENSG00000089818)
Protein
Protein identifiers
Adaptin ear-binding coat-associated protein 2 — Q9NVZ3 (reviewed: Q9NVZ3)
Alternative names: NECAP endocytosis-associated protein 2
All UniProt accessions (5): Q9NVZ3, D6RAN6, D6RB24, F6SKB8, H0Y970
UniProt curated annotations — full annotation on UniProt →
Function. Involved in endocytosis.
Subunit / interactions. Interacts with AP1G1 and AP2A1 components of the adapter protein complexes AP-1 and AP-2. Interacts with the GAE domain proteins GGA1, GGA2 and GGA3.
Subcellular location. Cytoplasmic vesicle. Clathrin-coated vesicle membrane. Cell membrane.
Domain organisation. The WXXF motifs mediate binding of accessory proteins to the ear-domain of AP-1, GGAs and AP-2 through hydrophobic interactions. Selective binding to the GAE domains of AP-1 or to the alpha-ear domain of AP-2 is tuned by the acidic context surrounding the motif and the properties of the second residue of the motif itself.
Similarity. Belongs to the NECAP family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NVZ3-1 | 1 | yes |
| Q9NVZ3-2 | 2 | |
| Q9NVZ3-3 | 3 | |
| Q9NVZ3-4 | 4 |
RefSeq proteins (3): NP_001138749, NP_001138750, NP_060560* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR011993 | PH-like_dom_sf | Homologous_superfamily |
| IPR012466 | NECAP_PHear | Domain |
Pfam: PF07933
UniProt features (13 total): splice variant 4, region of interest 2, short sequence motif 2, chain 1, sequence variant 1, sequence conflict 1, compositionally biased region 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NVZ3-F1 | 70.65 | 0.31 |
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): 181
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-8856825 | Cargo recognition for clathrin-mediated endocytosis |
| R-HSA-8856828 | Clathrin-mediated endocytosis |
| R-HSA-199991 | Membrane Trafficking |
| R-HSA-5653656 | Vesicle-mediated transport |
MSigDB gene sets: 168 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_UP, MODULE_255, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, MODULE_317, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, BYSTRYKH_HEMATOPOIESIS_STEM_CELL_AND_BRAIN_QTL_CIS, GOCC_COATED_VESICLE, GOCC_VESICLE_COAT, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, ELK1_01, GOBP_IMPORT_INTO_CELL, CHANDRAN_METASTASIS_UP, GOBP_ENDOCYTOSIS, ISRE_01
GO Biological Process (3): endocytosis (GO:0006897), protein transport (GO:0015031), vesicle-mediated transport (GO:0016192)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (6): plasma membrane (GO:0005886), clathrin-coated pit (GO:0005905), clathrin vesicle coat (GO:0030125), membrane (GO:0016020), clathrin-coated vesicle membrane (GO:0030665), cytoplasmic vesicle (GO:0031410)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Clathrin-mediated endocytosis | 1 |
| Membrane Trafficking | 1 |
| Vesicle-mediated transport | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| transport | 2 |
| membrane | 2 |
| vesicle budding from membrane | 1 |
| membrane invagination | 1 |
| vesicle-mediated transport | 1 |
| import into cell | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| cellular process | 1 |
| binding | 1 |
| cell periphery | 1 |
| endomembrane system | 1 |
| clathrin coat | 1 |
| vesicle coat | 1 |
| clathrin-coated vesicle membrane | 1 |
| cellular anatomical structure | 1 |
| clathrin-coated vesicle | 1 |
| coated vesicle membrane | 1 |
| cytoplasm | 1 |
| intracellular vesicle | 1 |
Protein interactions and networks
STRING
696 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NECAP2 | AP2A1 | O95782 | 818 |
| NECAP2 | FCHO1 | O14526 | 607 |
| NECAP2 | A0A0J9YXS1 | A0A0J9YXS1 | 505 |
| NECAP2 | ITSN2 | Q9NZM3 | 445 |
| NECAP2 | ADPRH | P54922 | 435 |
| NECAP2 | SNX9 | Q9Y5X1 | 431 |
| NECAP2 | PEX39 | Q5I0X4 | 419 |
| NECAP2 | FCHO2 | Q0JRZ9 | 419 |
| NECAP2 | DSTYK | Q6XUX3 | 417 |
| NECAP2 | PITHD1 | Q9GZP4 | 413 |
| NECAP2 | SCOC | Q9UIL1 | 412 |
| NECAP2 | ITSN1 | Q15811 | 396 |
| NECAP2 | MAP7D3 | Q8IWC1 | 393 |
| NECAP2 | EPS15L1 | Q9UBC2 | 376 |
| NECAP2 | NRSN2 | Q9GZP1 | 374 |
IntAct
38 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| AP2B1 | NECAP2 | psi-mi:“MI:0915”(physical association) | 0.660 |
| AP2S1 | AP2A2 | psi-mi:“MI:0914”(association) | 0.640 |
| NECAP2 | AP2A2 | psi-mi:“MI:0914”(association) | 0.530 |
| TRAF2 | NECAP2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PLSCR1 | NECAP2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| NECAP2 | NMI | psi-mi:“MI:0915”(physical association) | 0.370 |
| PRNP | CARNS1 | psi-mi:“MI:0914”(association) | 0.350 |
| PRNP | WDR91 | psi-mi:“MI:0914”(association) | 0.350 |
| SPATA1 | ANKHD1 | psi-mi:“MI:0914”(association) | 0.350 |
| NECAP2 | ANKRD28 | psi-mi:“MI:0914”(association) | 0.350 |
| RUNDC3A | GMNN | psi-mi:“MI:0914”(association) | 0.350 |
| AP2S1 | AP2A2 | psi-mi:“MI:0914”(association) | 0.350 |
| EPS15 | KRT33A | psi-mi:“MI:0914”(association) | 0.350 |
| GOT1 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| EVA1B | C2CD2L | psi-mi:“MI:0914”(association) | 0.350 |
| GHRL | GNPAT | psi-mi:“MI:0914”(association) | 0.350 |
| AP2B1 | SYNJ1 | psi-mi:“MI:0914”(association) | 0.350 |
| NECAP2 | INPPL1 | psi-mi:“MI:0914”(association) | 0.350 |
| AP2M1 | PER1 | psi-mi:“MI:0914”(association) | 0.350 |
| AP2S1 | FCHO1 | psi-mi:“MI:0914”(association) | 0.350 |
| FN1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| AP2M1 | CTNND1 | psi-mi:“MI:0914”(association) | 0.350 |
| CEP128 | CCDC66 | psi-mi:“MI:2364”(proximity) | 0.270 |
| SCLT1 | VWA8 | psi-mi:“MI:2364”(proximity) | 0.270 |
| CEP170 | ERVK3-1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| FGFR1 | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (109): AP2M1 (Affinity Capture-MS), AP2S1 (Affinity Capture-MS), CARM1 (Affinity Capture-MS), AP2A2 (Affinity Capture-MS), AP2A1 (Affinity Capture-MS), AP2B1 (Affinity Capture-MS), AP1B1 (Affinity Capture-MS), ZYG11B (Affinity Capture-MS), FBXO11 (Affinity Capture-MS), AP1G1 (Affinity Capture-MS), NECAP1 (Affinity Capture-MS), TES (Affinity Capture-MS), AP1M1 (Affinity Capture-MS), ITSN1 (Affinity Capture-MS), ANKRD28 (Affinity Capture-MS)
ESM2 similar proteins: A5DUN2, C5DT65, C5E268, C5M6H7, O14056, O42921, O60200, O94264, O94581, P0CM70, P0CM71, P0CM86, P0CM87, P0CT19, P21976, P35728, P42949, P69682, Q02772, Q0UWF1, Q10113, Q17Q91, Q1K8U2, Q28GG4, Q2TAP8, Q3E731, Q3T093, Q462Q7, Q4IAJ1, Q4P821, Q4PEW9, Q54IA0, Q5AL10, Q5E9Q4, Q5R630, Q61JS7, Q6C4R1, Q6CS47, Q6FVQ3, Q6P756
Diamond homologs: P69682, Q3T093, Q5E9Q4, Q5R630, Q681Q7, Q6P756, Q8NC96, Q9CR95, Q9D1J1, Q9NVZ3, Q9VXB0
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 49 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Cargo recognition for clathrin-mediated endocytosis | 7 | 21.6× | 2e-06 |
| Clathrin-mediated endocytosis | 8 | 20.1× | 5e-07 |
| Membrane Trafficking | 7 | 7.6× | 3e-04 |
| Vesicle-mediated transport | 7 | 7.2× | 4e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| clathrin-dependent endocytosis | 5 | 66.0× | 3e-06 |
| synaptic vesicle endocytosis | 5 | 49.1× | 9e-06 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
54 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 43 |
| Likely benign | 0 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1653 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:16443626:CCTTA:C | acceptor_loss | 1.0000 |
| 1:16443627:CTTA:C | acceptor_loss | 1.0000 |
| 1:16443628:TTA:T | acceptor_loss | 1.0000 |
| 1:16443629:TAGG:T | acceptor_loss | 1.0000 |
| 1:16443630:A:AC | acceptor_loss | 1.0000 |
| 1:16443631:G:GT | acceptor_loss | 1.0000 |
| 1:16447970:AAATG:A | donor_loss | 1.0000 |
| 1:16447972:ATGGT:A | donor_loss | 1.0000 |
| 1:16447973:TGGT:T | donor_loss | 1.0000 |
| 1:16447974:GGTA:G | donor_loss | 1.0000 |
| 1:16447975:GTAG:G | donor_loss | 1.0000 |
| 1:16447976:T:A | donor_loss | 1.0000 |
| 1:16448142:G:GG | donor_gain | 1.0000 |
| 1:16449088:CCCA:C | acceptor_loss | 1.0000 |
| 1:16449090:CA:C | acceptor_loss | 1.0000 |
| 1:16449091:A:AG | acceptor_gain | 1.0000 |
| 1:16449091:AG:A | acceptor_gain | 1.0000 |
| 1:16449091:AGGT:A | acceptor_gain | 1.0000 |
| 1:16449091:AGGTG:A | acceptor_gain | 1.0000 |
| 1:16449092:G:A | acceptor_loss | 1.0000 |
| 1:16449092:G:GC | acceptor_gain | 1.0000 |
| 1:16449092:GG:G | acceptor_gain | 1.0000 |
| 1:16449092:GGT:G | acceptor_gain | 1.0000 |
| 1:16449092:GGTG:G | acceptor_gain | 1.0000 |
| 1:16449092:GGTGG:G | acceptor_gain | 1.0000 |
| 1:16449197:TCGCA:T | donor_gain | 1.0000 |
| 1:16449198:CGCA:C | donor_gain | 1.0000 |
| 1:16449199:GCA:G | donor_gain | 1.0000 |
| 1:16449199:GCAG:G | donor_gain | 1.0000 |
| 1:16449200:CA:C | donor_gain | 1.0000 |
AlphaMissense
1697 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:16443642:T:A | W35R | 1.000 |
| 1:16443642:T:C | W35R | 1.000 |
| 1:16443643:G:C | W35S | 1.000 |
| 1:16443644:G:C | W35C | 1.000 |
| 1:16443644:G:T | W35C | 1.000 |
| 1:16443670:G:A | G44D | 1.000 |
| 1:16443715:T:C | L59P | 1.000 |
| 1:16447882:C:A | A69D | 1.000 |
| 1:16447932:G:C | D86H | 1.000 |
| 1:16447936:C:T | S87F | 1.000 |
| 1:16447942:G:C | R89T | 1.000 |
| 1:16447942:G:T | R89M | 1.000 |
| 1:16448077:G:A | G106R | 1.000 |
| 1:16448077:G:C | G106R | 1.000 |
| 1:16448078:G:A | G106E | 1.000 |
| 1:16448084:G:A | G108D | 1.000 |
| 1:16448107:T:C | F116L | 1.000 |
| 1:16448109:T:A | F116L | 1.000 |
| 1:16448109:T:G | F116L | 1.000 |
| 1:16449185:T:A | I158N | 1.000 |
| 1:16449185:T:C | I158T | 1.000 |
| 1:16440814:T:A | V18D | 0.999 |
| 1:16440816:T:G | Y19D | 0.999 |
| 1:16443634:C:A | A32D | 0.999 |
| 1:16443663:T:A | W42R | 0.999 |
| 1:16443663:T:C | W42R | 0.999 |
| 1:16443665:G:C | W42C | 0.999 |
| 1:16443665:G:T | W42C | 0.999 |
| 1:16443669:G:C | G44R | 0.999 |
| 1:16443673:G:C | R45P | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000033591 (1:16450199 C>G,T), RS1000147663 (1:16457761 G>A), RS1000164239 (1:16457514 G>C), RS1000181434 (1:16440369 A>G), RS1000405626 (1:16444097 G>A), RS1000750329 (1:16447519 A>G,T), RS1001115816 (1:16441718 T>C), RS1001218148 (1:16440932 G>A,C), RS1001239771 (1:16439408 C>A,T), RS1001271086 (1:16439022 G>C), RS1001295595 (1:16446544 A>G), RS1001358406 (1:16453388 C>T), RS1001392065 (1:16446369 C>T), RS1001458460 (1:16444622 CT>C), RS1001460208 (1:16452371 C>A,T)
Disease associations
OMIM: gene MIM:611624 | disease phenotypes:
GenCC curated gene-disease
Mondo (2): prostate cancer (MONDO:0008315), breast ductal adenocarcinoma (MONDO:0005590)
Orphanet (1): Familial prostate cancer (Orphanet:1331)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D018270 | Carcinoma, Ductal, Breast | C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390 |
| D011471 | Prostatic Neoplasms | C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
34 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| bisphenol A | decreases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| arsenite | increases reaction, affects binding | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| bisphenol B | increases expression | 1 |
| abrine | increases expression | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Resveratrol | increases expression | 1 |
| Leflunomide | decreases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Caffeine | affects phosphorylation | 1 |
| Catechin | affects cotreatment, decreases expression | 1 |
| Dimethyl Sulfoxide | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Formaldehyde | increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Phenobarbital | decreases expression | 1 |
| Phthalic Acids | increases methylation | 1 |
| Smoke | decreases expression | 1 |
| Thiram | increases expression | 1 |
| Tretinoin | increases expression | 1 |
| Valproic Acid | increases methylation | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00029224 | PHASE4 | COMPLETED | Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions |
| NCT00035997 | PHASE4 | COMPLETED | Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis |
| NCT00063609 | PHASE4 | COMPLETED | The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy |
| NCT00103623 | PHASE4 | SUSPENDED | The Plenaxis® Experience Study |
| NCT00106392 | PHASE4 | COMPLETED | A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy |
| NCT00185029 | PHASE4 | UNKNOWN | MR-Lymphography and Lymph Node Staging in Prostate Cancer |
| NCT00199485 | PHASE4 | COMPLETED | Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer |
| NCT00219219 | PHASE4 | COMPLETED | Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases |
| NCT00219271 | PHASE4 | COMPLETED | Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer |
| NCT00237146 | PHASE4 | COMPLETED | Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy |
| NCT00242554 | PHASE4 | COMPLETED | Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases |
| NCT00280098 | PHASE4 | COMPLETED | Docetaxel in the Treatment of Hormone Refractory Prostate Cancer |
| NCT00293696 | PHASE4 | COMPLETED | Casodex/Zoladex Biomarkers in Localised Prostate Cancer |
| NCT00334139 | PHASE4 | COMPLETED | Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer |
| NCT00375765 | PHASE4 | COMPLETED | Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer |
| NCT00391690 | PHASE4 | COMPLETED | Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer |
| NCT00422708 | PHASE4 | COMPLETED | Local Anesthesia for Prostate Biopsy |
| NCT00526331 | PHASE4 | COMPLETED | Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy |
| NCT00590213 | PHASE4 | COMPLETED | Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX |
| NCT00629330 | PHASE4 | TERMINATED | Dissemination of Prostate Cancer Screening to PCP’s in African American Communities |
| NCT00771966 | PHASE4 | COMPLETED | Radical Prostatectomy and Perioperative Fluid Therapy |
| NCT00805701 | PHASE4 | COMPLETED | Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation |
| NCT00859027 | PHASE4 | COMPLETED | Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer |
| NCT00906269 | PHASE4 | UNKNOWN | Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer |
| NCT00953277 | PHASE4 | COMPLETED | Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer |
| NCT00982800 | PHASE4 | COMPLETED | Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy? |
| NCT01083199 | PHASE4 | COMPLETED | Global Performance Evaluation of the AMS CONTINUUM™ Device |
| NCT01136226 | PHASE4 | COMPLETED | Evaluate Recovery of Testosterone for Patients Using Eligard |
| NCT01161563 | PHASE4 | COMPLETED | Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration |
| NCT01230905 | PHASE4 | COMPLETED | Study to Monitor the Effects of Androgen Suppression Treatment on the Heart |
| NCT01296672 | PHASE4 | COMPLETED | 3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer |
| NCT01365143 | PHASE4 | TERMINATED | Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy |
| NCT01379742 | PHASE4 | UNKNOWN | Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy |
| NCT01486563 | PHASE4 | COMPLETED | Hydroxyethyl Starch and Renal Function After Radical Prostatectomy |
| NCT01511874 | PHASE4 | COMPLETED | Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer |
| NCT01512472 | PHASE4 | TERMINATED | Firmagon (Degarelix) Intermittent Therapy |
| NCT01547416 | PHASE4 | COMPLETED | The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function |
| NCT01571544 | PHASE4 | COMPLETED | The Use of Thermal Suits as Preventing Hypothermia During Surgery |
| NCT01581749 | PHASE4 | UNKNOWN | Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer |
| NCT01649635 | PHASE4 | COMPLETED | Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.