NCKAP5
geneOn this page
Also known as NAP5ERIH1ERIH2
Summary
NCKAP5 (NCK associated protein 5, HGNC:29847) is a protein-coding gene on chromosome 2q21.2, encoding Nck-associated protein 5 (O14513).
Predicted to be involved in microtubule bundle formation and microtubule depolymerization. Predicted to be active in microtubule plus-end.
Source: NCBI Gene 344148 — RefSeq curated summary.
At a glance
- GWAS associations: 28
- Clinical variants (ClinVar): 356 total
- MANE Select transcript:
NM_207363
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29847 |
| Approved symbol | NCKAP5 |
| Name | NCK associated protein 5 |
| Location | 2q21.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | NAP5, ERIH1, ERIH2 |
| Ensembl gene | ENSG00000176771 |
| Ensembl biotype | protein_coding |
| OMIM | 608789 |
| Entrez | 344148 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 6 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000358991, ENST00000409213, ENST00000409261, ENST00000427594, ENST00000473859, ENST00000639875, ENST00000640590
RefSeq mRNA: 2 — MANE Select: NM_207363
NM_207363, NM_207481
CCDS: CCDS46417, CCDS46418
Canonical transcript exons
ENST00000409261 — 20 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001369250 | 132731737 | 132732051 |
| ENSE00001374947 | 132728816 | 132728952 |
| ENSE00001385533 | 132773816 | 132773894 |
| ENSE00001389334 | 132725627 | 132725759 |
| ENSE00001423426 | 133559050 | 133559117 |
| ENSE00001528776 | 132781940 | 132785718 |
| ENSE00001528778 | 132790023 | 132790205 |
| ENSE00001528779 | 132796628 | 132796729 |
| ENSE00001528781 | 132860492 | 132860611 |
| ENSE00001528782 | 132868936 | 132868974 |
| ENSE00001528783 | 132878848 | 132878916 |
| ENSE00001582178 | 133568216 | 133568463 |
| ENSE00001585426 | 133517458 | 133517587 |
| ENSE00001589129 | 132671788 | 132673305 |
| ENSE00001685730 | 133129978 | 133130111 |
| ENSE00001703692 | 132963720 | 132963869 |
| ENSE00001724301 | 132994152 | 132994239 |
| ENSE00002478772 | 133303037 | 133303110 |
| ENSE00003661755 | 132781052 | 132781229 |
| ENSE00003788236 | 133213716 | 133213779 |
Expression profiles
Bgee: expression breadth ubiquitous, 132 present calls, max score 93.28.
FANTOM5 (CAGE): breadth broad, TPM avg 3.1412 / max 514.4643, expressed in 613 samples.
FANTOM5 promoters (9 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 30724 | 1.9016 | 456 |
| 30716 | 0.3907 | 139 |
| 30725 | 0.3566 | 120 |
| 30722 | 0.1749 | 64 |
| 30723 | 0.1542 | 53 |
| 30715 | 0.0741 | 35 |
| 30721 | 0.0482 | 19 |
| 30726 | 0.0309 | 11 |
| 30727 | 0.0100 | 3 |
Top tissues by expression
138 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| corpus callosum | UBERON:0002336 | 93.28 | gold quality |
| cerebellar vermis | UBERON:0004720 | 89.83 | gold quality |
| ventricular zone | UBERON:0003053 | 89.74 | gold quality |
| quadriceps femoris | UBERON:0001377 | 88.27 | gold quality |
| cortical plate | UBERON:0005343 | 88.00 | gold quality |
| sural nerve | UBERON:0015488 | 85.03 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 83.90 | gold quality |
| right lung | UBERON:0002167 | 83.60 | gold quality |
| ganglionic eminence | UBERON:0004023 | 83.58 | gold quality |
| stromal cell of endometrium | CL:0002255 | 79.06 | gold quality |
| lung | UBERON:0002048 | 78.45 | gold quality |
| tonsil | UBERON:0002372 | 77.11 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 76.22 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 75.90 | gold quality |
| spinal cord | UBERON:0002240 | 75.89 | gold quality |
| colonic epithelium | UBERON:0000397 | 75.36 | gold quality |
| substantia nigra | UBERON:0002038 | 75.36 | gold quality |
| calcaneal tendon | UBERON:0003701 | 74.89 | gold quality |
| putamen | UBERON:0001874 | 73.58 | gold quality |
| amygdala | UBERON:0001876 | 73.04 | gold quality |
| temporal lobe | UBERON:0001871 | 72.85 | gold quality |
| Ammon’s horn | UBERON:0001954 | 72.83 | gold quality |
| esophagus mucosa | UBERON:0002469 | 72.70 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 71.42 | gold quality |
| caudate nucleus | UBERON:0001873 | 71.19 | gold quality |
| kidney | UBERON:0002113 | 71.07 | gold quality |
| liver | UBERON:0002107 | 70.80 | gold quality |
| placenta | UBERON:0001987 | 70.79 | gold quality |
| hypothalamus | UBERON:0001898 | 69.96 | gold quality |
| primary visual cortex | UBERON:0002436 | 69.83 | gold quality |
Single-cell (SCXA)
Detected in 7 experiment(s), a significant marker in 7.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-2 | yes | 5984.60 |
| E-GEOD-98556 | yes | 443.98 |
| E-HCAD-35 | yes | 88.63 |
| E-HCAD-25 | yes | 62.95 |
| E-CURD-119 | yes | 61.17 |
| E-ANND-3 | yes | 6.84 |
| E-GEOD-130148 | yes | 5.33 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
135 targeting NCKAP5, 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-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-25-3P | 99.98 | 74.60 | 1817 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Nckap5 | ENSMUSG00000049690 |
| rattus_norvegicus | Nckap5 | ENSRNOG00000021553 |
| drosophila_melanogaster | CG42663 | FBGN0261545 |
Paralogs (1): NCKAP5L (ENSG00000167566)
Protein
Protein identifiers
Nck-associated protein 5 — O14513 (reviewed: O14513)
Alternative names: Peripheral clock protein
All UniProt accessions (5): O14513, A0A1W2PNT1, A0A1W2PS86, C9JYL7, H7C187
UniProt curated annotations — full annotation on UniProt →
Subunit / interactions. Interacts with the SH3-containing region of the adapter protein NCK.
Tissue specificity. Expressed in fetal and adult brain, leukocytes and fetal fibroblasts.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O14513-1 | 1, Peripheral clock protein 2, ERIH2 | yes |
| O14513-2 | 2, Peripheral clock protein 1, ERIH1 | |
| O14513-3 | 3 | |
| O14513-4 | 4 |
RefSeq proteins (2): NP_997246, NP_997364 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR026163 | Nckap5l | Family |
| IPR032769 | NCKAP5_C | Domain |
Pfam: PF15246
UniProt features (41 total): compositionally biased region 15, region of interest 8, sequence variant 7, splice variant 6, sequence conflict 3, chain 1, coiled-coil region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O14513-F1 | 43.93 | 0.09 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 186 (showing top):
RORA1_01, TGACCTY_ERR1_Q2, HNF1_Q6, CAGCTG_AP4_Q5, CEBPB_01, CEBP_Q2, GOBP_MICROTUBULE_DEPOLYMERIZATION, RGTTAMWNATT_HNF1_01, NF1_Q6_01, GATA6_01, WTGAAAT_UNKNOWN, TCF11_01, GRE_C, RYTAAWNNNTGAY_UNKNOWN, HP1SITEFACTOR_Q6
GO Biological Process (2): microtubule bundle formation (GO:0001578), microtubule depolymerization (GO:0007019)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (1): microtubule plus-end (GO:0035371)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| microtubule cytoskeleton organization | 1 |
| microtubule polymerization or depolymerization | 1 |
| protein depolymerization | 1 |
| supramolecular fiber organization | 1 |
| binding | 1 |
| microtubule end | 1 |
Protein interactions and networks
STRING
562 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NCKAP5 | NCK1 | P16333 | 745 |
| NCKAP5 | OR2T27 | Q8NH04 | 418 |
| NCKAP5 | ALG1L2 | C9J202 | 373 |
| NCKAP5 | CYP4F11 | Q9HBI6 | 361 |
| NCKAP5 | DCAF5 | Q96JK2 | 359 |
| NCKAP5 | ADGB | Q8N7X0 | 351 |
| NCKAP5 | C22orf42 | Q6IC83 | 349 |
| NCKAP5 | CACNG3 | O60359 | 323 |
| NCKAP5 | SPATA31H1 | Q68DN1 | 316 |
| NCKAP5 | NAT9 | Q9BTE0 | 315 |
| NCKAP5 | GLIPR1 | P48060 | 312 |
| NCKAP5 | CAND2 | O75155 | 300 |
| NCKAP5 | ZNF517 | Q6ZMY9 | 290 |
| NCKAP5 | ZNF578 | Q96N58 | 290 |
| NCKAP5 | NKAIN3 | Q8N8D7 | 288 |
IntAct
13 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NCK1 | NCKAP5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NCKAP5 | Dlg4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ABL1 | NCKAP5 | psi-mi:“MI:0915”(physical association) | 0.400 |
| NCKAP5 | FYN | psi-mi:“MI:0915”(physical association) | 0.400 |
| GRB2 | NCKAP5 | psi-mi:“MI:0915”(physical association) | 0.400 |
| NCKAP5 | KHDRBS1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| APBB1 | SSPOP | psi-mi:“MI:0914”(association) | 0.350 |
| NCKAP5 | KIF3C | psi-mi:“MI:0914”(association) | 0.350 |
| DISC1 | NCKAP5 | psi-mi:“MI:0915”(physical association) | 0.000 |
| VAV2 | NCKAP5 | psi-mi:“MI:0915”(physical association) | 0.000 |
| NCKAP5 | APC | psi-mi:“MI:0915”(physical association) | 0.000 |
| NRIP1 | NCKAP5 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (35): NCKAP5 (Affinity Capture-RNA), NCKAP5 (Affinity Capture-MS), KHDRBS1 (Proximity Label-MS), NCKAP5 (Proximity Label-MS), CEP350 (Affinity Capture-MS), KNSTRN (Affinity Capture-MS), KIF3C (Affinity Capture-MS), ANKRD26 (Affinity Capture-MS), TRAF3 (Affinity Capture-MS), TRIM37 (Affinity Capture-MS), MAEA (Affinity Capture-MS), KIFAP3 (Affinity Capture-MS), FBXO45 (Affinity Capture-MS), NEURL4 (Affinity Capture-MS), NCK1 (Affinity Capture-MS)
ESM2 similar proteins: A0A087WXM9, A0A2K1JJ00, A0JM83, A4IGL8, E1BC15, E9Q5F9, O14513, O35923, O60673, O88491, P46013, P97929, Q14B71, Q28DZ0, Q29RT4, Q3MHH3, Q3TNU4, Q3ZBP0, Q4QY64, Q4V7J0, Q5DTT3, Q5E9A0, Q5F2C3, Q5RD08, Q5VWN6, Q5VYV7, Q61493, Q69YH5, Q6NS59, Q703I1, Q80U59, Q86XD8, Q8IXS0, Q8IYL3, Q8L7I1, Q8N7Z5, Q8NFU7, Q8TEP8, Q92628, Q96BU1
Diamond homologs: O14513, Q6GQX2, Q9HCH0
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 13 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 |
|---|---|---|---|
| FCGR3A-mediated phagocytosis | 5 | 93.6× | 2e-07 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
356 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 279 |
| Likely benign | 32 |
| Benign | 13 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4562 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:132673303:TTT:T | acceptor_gain | 1.0000 |
| 2:132673304:TT:T | acceptor_gain | 1.0000 |
| 2:132673305:TC:T | acceptor_loss | 1.0000 |
| 2:132673306:C:CC | acceptor_gain | 1.0000 |
| 2:132673306:CTGCA:C | acceptor_loss | 1.0000 |
| 2:132673307:T:A | acceptor_loss | 1.0000 |
| 2:132773892:TACC:T | acceptor_loss | 1.0000 |
| 2:132773895:C:A | acceptor_loss | 1.0000 |
| 2:132773895:C:CC | acceptor_gain | 1.0000 |
| 2:132773896:T:G | acceptor_loss | 1.0000 |
| 2:132860487:CATA:C | donor_loss | 1.0000 |
| 2:132860488:ATACC:A | donor_loss | 1.0000 |
| 2:132860489:TACCT:T | donor_loss | 1.0000 |
| 2:132860490:ACC:A | donor_loss | 1.0000 |
| 2:132963714:TCTTA:T | donor_loss | 1.0000 |
| 2:132963715:CTTAC:C | donor_loss | 1.0000 |
| 2:132963716:TTACC:T | donor_loss | 1.0000 |
| 2:132963717:TACCT:T | donor_loss | 1.0000 |
| 2:132963718:ACC:A | donor_loss | 1.0000 |
| 2:132963719:C:A | donor_loss | 1.0000 |
| 2:132963870:C:CC | acceptor_gain | 1.0000 |
| 2:132999423:T:TA | donor_gain | 1.0000 |
| 2:133129972:CAATA:C | donor_loss | 1.0000 |
| 2:133129974:ATAC:A | donor_loss | 1.0000 |
| 2:133129975:TACCT:T | donor_loss | 1.0000 |
| 2:133130006:T:C | donor_gain | 1.0000 |
| 2:133130107:TCATG:T | acceptor_gain | 1.0000 |
| 2:133130108:CATG:C | acceptor_gain | 1.0000 |
| 2:133130108:CATGC:C | acceptor_gain | 1.0000 |
| 2:133130109:ATG:A | acceptor_gain | 1.0000 |
AlphaMissense
12521 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:132860607:A:G | L231P | 0.999 |
| 2:132868949:A:G | L225P | 0.999 |
| 2:132868953:C:G | A224P | 0.998 |
| 2:132868970:G:T | A218D | 0.998 |
| 2:132868971:C:G | A218P | 0.998 |
| 2:132878855:A:G | L214P | 0.998 |
| 2:132782372:A:G | I1480T | 0.997 |
| 2:132860586:A:G | L238S | 0.997 |
| 2:132868946:A:G | L226P | 0.997 |
| 2:132868958:A:T | V222D | 0.997 |
| 2:132868961:A:T | V221D | 0.997 |
| 2:132732012:C:T | G1723E | 0.996 |
| 2:132782909:A:G | I1301T | 0.996 |
| 2:133303076:A:G | L35P | 0.996 |
| 2:132732005:A:C | F1725L | 0.995 |
| 2:132732005:A:T | F1725L | 0.995 |
| 2:132732007:A:G | F1725L | 0.995 |
| 2:132732020:A:C | S1720R | 0.995 |
| 2:132732020:A:T | S1720R | 0.995 |
| 2:132732022:T:G | S1720R | 0.995 |
| 2:132782372:A:C | I1480S | 0.995 |
| 2:132782372:A:T | I1480N | 0.995 |
| 2:132782909:A:C | I1301S | 0.995 |
| 2:132860565:A:G | L245S | 0.995 |
| 2:132868964:T:G | Q220P | 0.995 |
| 2:132878855:A:T | L214H | 0.995 |
| 2:132963724:A:G | L192P | 0.995 |
| 2:132732006:A:G | F1725S | 0.994 |
| 2:132994216:A:G | L122P | 0.994 |
| 2:132732019:C:A | G1721W | 0.993 |
dbSNP variants (sampled 300 via entrez): RS1000002190 (2:133190097 T>C), RS1000002414 (2:133335190 T>C), RS1000004422 (2:132838402 T>C,G), RS1000011114 (2:132825808 A>G), RS1000011810 (2:132707883 G>C), RS1000013729 (2:133200775 T>C), RS1000015201 (2:133512537 G>A,C), RS1000015209 (2:132887348 T>TATCTATC,TATCTATCC,TATCTATCTATCC,TATCTATCTATCTATCC,TATCTATCTATCTATCTATCC), RS1000015273 (2:133112251 G>A), RS1000018337 (2:133077796 C>A), RS1000025548 (2:133552426 T>G), RS1000030939 (2:133163697 T>C), RS1000032663 (2:133511117 C>T), RS1000034555 (2:133397648 G>A), RS1000035376 (2:133600121 G>T)
Disease associations
OMIM: gene MIM:608789 | disease phenotypes:
GenCC curated gene-disease
Mondo (2): primary ovarian failure (MONDO:0005387), primary amenorrhea (MONDO:1060208)
Orphanet (1): NON RARE IN EUROPE: Primary ovarian failure (Orphanet:619)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
28 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000817_1 | Height | 2.000000e-12 |
| GCST000821_14 | Bipolar disorder and schizophrenia | 7.000000e-07 |
| GCST001451_1 | Glaucoma (primary open-angle) | 4.000000e-07 |
| GCST001841_5 | Palmitoleic acid (16:1n-7) levels | 4.000000e-08 |
| GCST001860_9 | Multiple sclerosis | 7.000000e-06 |
| GCST001971_2 | Hypersomnia (HLA-DQB1*06:02 negative) | 1.000000e-07 |
| GCST002775_2 | Alzheimer’s disease (survival time) | 1.000000e-06 |
| GCST003814_25 | Selective IgA deficiency | 8.000000e-06 |
| GCST004570_17 | Iron status biomarkers (iron levels) | 7.000000e-07 |
| GCST005023_16 | Initial pursuit acceleration | 6.000000e-06 |
| GCST005790_85 | Rosacea symptom severity | 5.000000e-06 |
| GCST008891_3 | Cognitive performance (processing speed) | 4.000000e-06 |
| GCST009188_2 | Lingual gyrus volume | 4.000000e-06 |
| GCST009462_36 | Optic disc size | 3.000000e-08 |
| GCST010254_2 | Diastolic blood pressure x dichotomous lifestyle risk score interaction (2df test) | 4.000000e-06 |
| GCST010255_2 | Diastolic blood pressure x dichotomous lifestyle risk score interaction (1df test) | 7.000000e-07 |
| GCST010274_4 | Gout (combined type) | 5.000000e-07 |
| GCST010320_96 | PR interval | 3.000000e-09 |
| GCST010321_194 | PR interval | 8.000000e-10 |
| GCST010397_26 | Gut microbiota (bacterial taxa, rank normal transformation method) | 1.000000e-06 |
| GCST010698_72 | Subcortical volume (min-P) | 5.000000e-14 |
| GCST010699_25 | Brain morphology (min-P) | 2.000000e-09 |
| GCST010700_51 | Cortical thickness (MOSTest) | 3.000000e-10 |
| GCST010701_74 | Cortical surface area (MOSTest) | 4.000000e-09 |
| GCST010702_64 | Subcortical volume (MOSTest) | 1.000000e-11 |
| GCST010703_142 | Brain morphology (MOSTest) | 5.000000e-08 |
| GCST011741_68 | LDL cholesterol levels in HIV infection | 4.000000e-06 |
| GCST011981_4 | Homeostasis model assessment of insulin resistance | 3.000000e-06 |
EFO canonical traits (12, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0000714 | survival time |
| EFO:0008434 | initial pursuit acceleration |
| EFO:0009180 | rosacea severity measurement |
| EFO:0004363 | information processing speed |
| EFO:0006336 | diastolic blood pressure |
| EFO:0010724 | lifestyle measurement |
| EFO:0004462 | PR interval |
| EFO:0007874 | gut microbiome measurement |
| EFO:0004346 | neuroimaging measurement |
| EFO:0004840 | cortical thickness |
| EFO:0004611 | low density lipoprotein cholesterol measurement |
| EFO:0004501 | HOMA-IR |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D016649 | Primary Ovarian Insufficiency | C12.050.351.500.056.630.750; C12.100.250.056.630.750; C19.391.630.750 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
36 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases methylation, increases expression, decreases expression | 4 |
| Benzo(a)pyrene | decreases expression, decreases methylation, affects methylation | 3 |
| Aflatoxin B1 | affects expression, decreases methylation | 2 |
| aristolochic acid I | decreases expression | 1 |
| urushiol | increases expression | 1 |
| methyleugenol | decreases expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| bisphenol A | affects methylation, affects cotreatment, decreases methylation | 1 |
| trichostatin A | increases expression | 1 |
| zinc chromate | decreases expression, increases abundance | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| aflatoxin B2 | increases methylation | 1 |
| chromium hexavalent ion | decreases expression, increases abundance | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Zoledronic Acid | increases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Acetaminophen | decreases expression | 1 |
| Allergens | increases expression | 1 |
| Calcitriol | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Folic Acid | decreases expression | 1 |
| Methapyrilene | increases methylation | 1 |
| N-Nitrosopyrrolidine | decreases expression | 1 |
| Nickel | decreases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Tetrachlorodibenzodioxin | increases expression | 1 |
| Dronabinol | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
Clinical trials (associated diseases)
76 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00417066 | PHASE4 | COMPLETED | Flexible GnRH Antagonist vs Flare up GnRH Agonist Protocol in Poor Responders |
| NCT00732693 | PHASE4 | COMPLETED | Evaluation of Physiologic and Standard Sex Steroid Replacement Regimens in Women With Premature Ovarian Failure |
| NCT00837616 | PHASE4 | COMPLETED | Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism |
| NCT01853501 | PHASE4 | UNKNOWN | Effects of ADSC Therapy in Women With POF |
| NCT02783937 | PHASE4 | COMPLETED | Filgrastim for Premature Ovarian Insufficiency |
| NCT03535480 | PHASE4 | UNKNOWN | Autologous Bone Marrow Stem Cell Ovarian Transplantation to Restore Ovarian Function in Premature Ovarian Failure |
| NCT00140998 | PHASE3 | COMPLETED | Estrogen Treatment (Oral vs. Patches) in Turner Syndrome |
| NCT00001951 | PHASE2 | COMPLETED | Hormone Replacement in Young Women With Premature Ovarian Failure |
| NCT00370019 | PHASE2 | WITHDRAWN | Effects of an Estrogen Replacement Therapy Skin Patch on Ovulation in Women With Premature Ovarian Failure |
| NCT00429494 | PHASE2 | COMPLETED | GnRH Analogue for Ovarian Function Preservation in Hematopoietic Stem Cell Transplantation Patients |
| NCT03816852 | PHASE2 | SUSPENDED | The Safety and Efficiency Study of Mesenchymal Stem Cell (19#iSCLife®-POI) in Premature Ovarian Insufficiency |
| NCT04536467 | PHASE2 | UNKNOWN | Prevention of Chemotherapy-Induced Ovarian Failure With Goserelin in Premenopausal Lymphoma Patients |
| NCT06117982 | PHASE2 | COMPLETED | The Impact of Granulocyte Colony Stimulating Factor on Premature Ovarian Insufficiency |
| NCT02912104 | PHASE1 | COMPLETED | A Therapeutic Trial of Human Amniotic Epithelial Cells Transplantation for Primary Ovarian Failure |
| NCT03178695 | PHASE1 | COMPLETED | Inovium Ovarian Rejuvenation Trials |
| NCT04815213 | PHASE1 | ACTIVE_NOT_RECRUITING | The Use of Expandeded Mesenchymal Stromal Cells (MSC) in Premature Ovarian Failure (POF) in Adult Humans |
| NCT05138367 | PHASE1 | COMPLETED | Effects of UCA-PSCs in Women With POF |
| NCT06132542 | PHASE1 | UNKNOWN | Autologous ADMSC Transplantation in Patients With POI |
| NCT00948857 | PHASE2/PHASE3 | TERMINATED | Dehydroepiandrosterone (DHEA) Treatment and Premature Ovarian Failure (POF) |
| NCT04031456 | PHASE2/PHASE3 | RECRUITING | Autologous PRP Infusion May Restore Ovarian Function and May Promote Folliculogenesis in POI Patients |
| NCT02043743 | PHASE1/PHASE2 | UNKNOWN | Autologous Stem Cells Transplantation in Patients With Idiopathic and Drug Induced Premature Ovarian Failure |
| NCT02062931 | PHASE1/PHASE2 | UNKNOWN | Autologous Mesenchymal Stem Cells Transplantation In Women With Premature Ovarian Failure |
| NCT02151890 | PHASE1/PHASE2 | COMPLETED | Pregnancy After Stem Cell Transplantation in Premature Ovarian Failure |
| NCT02372474 | PHASE1/PHASE2 | COMPLETED | It is a Real The First Baby Of Autologous Stem Cell Therapy in Premature Ovarian Failure |
| NCT02603744 | PHASE1/PHASE2 | UNKNOWN | Autologous Adipose Derived Mesenchymal Stromal Cells Transplantation in Women With Premature Ovarian Failure (POF) |
| NCT02644447 | PHASE1/PHASE2 | COMPLETED | Transplantation of HUC-MSCs With Injectable Collagen Scaffold for POF |
| NCT03069209 | PHASE1/PHASE2 | UNKNOWN | Autologous Bone Marrow-Derived Stem Cell Transplantation in Patients With Premature Ovarian Failure (POF) |
| NCT03985462 | PHASE1/PHASE2 | WITHDRAWN | Very Small Embryonic-like Stem Cells for Ovary |
| NCT04009473 | PHASE1/PHASE2 | UNKNOWN | Stem Cell Therapy and Growth Factor Ovarian in Vitro Activation |
| NCT04071574 | PHASE1/PHASE2 | COMPLETED | Comparative Study on the Efficacy of Ovarian Stimulation Protocols on the Success Rate of ICSI in Female Infertility |
| NCT04922398 | PHASE1/PHASE2 | UNKNOWN | Ovarian Injection of PRP (Platelet -Rich Plasma) Vs Normal Saline in Premature Ovarian Insufficiency |
| NCT05462379 | PHASE1/PHASE2 | ACTIVE_NOT_RECRUITING | Autologous Heterotopic Fresh Ovarian Graft in Woman With LACC Eligible for Pelvic Radiotherapy Treatment. |
| NCT06202547 | PHASE1/PHASE2 | UNKNOWN | Intra-ovarian Injection of MSC-EVs in Idiopathic Premature Ovarian Failure |
| NCT01129947 | EARLY_PHASE1 | WITHDRAWN | The Use of DHEA in Women With Premature Ovarian Failure |
| NCT05522634 | EARLY_PHASE1 | UNKNOWN | A Clinical Study of Chinese Herbal Compound TJAOA101 in the Treatment of Premature Ovarian Insufficiency |
| NCT07308327 | EARLY_PHASE1 | ACTIVE_NOT_RECRUITING | The Influence of Gut Microbiota on Ovarian Function: A Single-center, Randomized,Double Blind, Parallel-controlled, Exploratory Clinical Trial |
| NCT00001275 | Not specified | COMPLETED | Ovarian Follicle Function in Patients With Primary Ovarian Failure |
| NCT00001306 | Not specified | COMPLETED | Steroid Therapy in Autoimmune Premature Ovarian Failure |
| NCT00006156 | Not specified | COMPLETED | Feasibility Study for Development of an Early Test for Ovarian Failure |
| NCT00119925 | Not specified | UNKNOWN | ‘SPRING’-Study: Subfertility Guidelines: Patient Related Implementation in the Netherlands Among Gynaecologists |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): hypersomnia, mental disorder, primary amenorrhea, selective IgA deficiency disease