IPP
gene geneOn this page
Also known as KLHL27
Summary
IPP (intracisternal A particle-promoted polypeptide, HGNC:6108) is a protein-coding gene on chromosome 1p34.1, encoding Actin-binding protein IPP (Q9Y573). May play a role in organizing the actin cytoskeleton.
The protein encoded by this gene is a member of the kelch family of proteins, which is characterized by a 50 amino acid repeat which interacts with actin. Transcript variants have been described but their full-length nature has not been determined.
Source: NCBI Gene 3652 — RefSeq curated summary.
At a glance
- GWAS associations: 15
- Clinical variants (ClinVar): 99 total
- MANE Select transcript:
NM_005897
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:6108 |
| Approved symbol | IPP |
| Name | intracisternal A particle-promoted polypeptide |
| Location | 1p34.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KLHL27 |
| Ensembl gene | ENSG00000197429 |
| Ensembl biotype | protein_coding |
| OMIM | 147485 |
| Entrez | 3652 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 7 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000359942, ENST00000396478, ENST00000461718, ENST00000495072, ENST00000890995, ENST00000890996, ENST00000890997, ENST00000964613, ENST00000964614
RefSeq mRNA: 2 — MANE Select: NM_005897
NM_001145349, NM_005897
CCDS: CCDS30702, CCDS44132
Canonical transcript exons
ENST00000396478 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001401957 | 45716895 | 45717017 |
| ENSE00001403014 | 45719203 | 45719340 |
| ENSE00001403751 | 45740901 | 45741332 |
| ENSE00001404314 | 45729614 | 45729769 |
| ENSE00001406047 | 45727631 | 45727798 |
| ENSE00001456717 | 45714246 | 45714466 |
| ENSE00001456719 | 45746120 | 45746461 |
| ENSE00001809958 | 45750597 | 45750653 |
| ENSE00001874727 | 45698711 | 45700190 |
Expression profiles
Bgee: expression breadth ubiquitous, 273 present calls, max score 90.12.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.9167 / max 56.1089, expressed in 1618 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 12156 | 2.5856 | 1432 |
| 12157 | 0.8744 | 391 |
| 12155 | 0.4567 | 178 |
Top tissues by expression
285 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 90.12 | gold quality |
| nipple | UBERON:0002030 | 89.54 | gold quality |
| ventricular zone | UBERON:0003053 | 87.71 | gold quality |
| renal medulla | UBERON:0000362 | 86.50 | gold quality |
| pylorus | UBERON:0001166 | 86.16 | gold quality |
| biceps brachii | UBERON:0001507 | 86.01 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 85.97 | gold quality |
| cardia of stomach | UBERON:0001162 | 85.83 | gold quality |
| superior surface of tongue | UBERON:0007371 | 85.76 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 85.60 | gold quality |
| bronchial epithelial cell | CL:0002328 | 85.50 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 85.33 | gold quality |
| penis | UBERON:0000989 | 85.11 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 85.11 | gold quality |
| adrenal tissue | UBERON:0018303 | 84.85 | gold quality |
| muscle of leg | UBERON:0001383 | 84.58 | gold quality |
| trachea | UBERON:0003126 | 84.53 | gold quality |
| islet of Langerhans | UBERON:0000006 | 84.44 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 84.27 | gold quality |
| gastrocnemius | UBERON:0001388 | 84.14 | gold quality |
| muscle organ | UBERON:0001630 | 83.92 | gold quality |
| body of tongue | UBERON:0011876 | 83.92 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 83.66 | gold quality |
| pericardium | UBERON:0002407 | 83.57 | silver quality |
| corpus epididymis | UBERON:0004359 | 83.52 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 83.46 | gold quality |
| cranial nerve II | UBERON:0000941 | 83.44 | gold quality |
| adult organism | UBERON:0007023 | 83.43 | gold quality |
| ganglionic eminence | UBERON:0004023 | 83.29 | gold quality |
| ventral tegmental area | UBERON:0002691 | 83.27 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.98 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
56 targeting IPP, 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-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-218-5P | 99.93 | 72.22 | 2103 |
| HSA-MIR-450B-5P | 99.92 | 71.48 | 3175 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-8063 | 99.91 | 69.76 | 3146 |
| HSA-MIR-6783-3P | 99.89 | 67.92 | 2059 |
| HSA-MIR-1343-3P | 99.89 | 66.78 | 1815 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-221-5P | 99.86 | 65.45 | 1052 |
| HSA-MIR-8073 | 99.86 | 65.21 | 1118 |
| HSA-MIR-4698 | 99.84 | 71.41 | 4303 |
| HSA-MIR-4802-3P | 99.72 | 70.13 | 1273 |
| HSA-MIR-4524A-3P | 99.72 | 66.85 | 2406 |
| HSA-MIR-1283 | 99.69 | 72.42 | 3009 |
| HSA-MIR-3618 | 99.69 | 68.57 | 1012 |
| HSA-MIR-1251-3P | 99.64 | 67.21 | 1408 |
| HSA-MIR-561-3P | 99.64 | 70.90 | 3647 |
| HSA-MIR-4516 | 99.61 | 67.78 | 3390 |
| HSA-MIR-4437 | 99.52 | 65.29 | 1266 |
| HSA-MIR-4489 | 99.50 | 65.56 | 785 |
| HSA-MIR-6513-5P | 99.43 | 67.81 | 1071 |
| HSA-MIR-3692-5P | 99.29 | 67.04 | 1421 |
Literature-anchored findings (GeneRIF, showing 2)
- Integrin-linked kinase (ILK) regulates KRAS, IPP complex and Ras suppressor-1 (RSU1) promoting lung adenocarcinoma progression and poor survival. (PMID:32592097)
- MicroRNA-Dependent Targeting of RSU1 and the IPP Adhesion Complex Regulates the PTEN/PI3K/AKT Signaling Pathway in Breast Cancer Cell Lines. (PMID:32751711)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Ipp | ENSMUSG00000028696 |
| rattus_norvegicus | Ipp | ENSRNOG00000016183 |
Paralogs (54): KLHL13 (ENSG00000003096), KLHL20 (ENSG00000076321), KEAP1 (ENSG00000079999), KLHL42 (ENSG00000087448), KLHL22 (ENSG00000099910), KLHL4 (ENSG00000102271), KLHL2 (ENSG00000109466), KLHL5 (ENSG00000109790), BACH2 (ENSG00000112182), KLHL18 (ENSG00000114648), KLHL24 (ENSG00000114796), IVNS1ABP (ENSG00000116679), KLHL12 (ENSG00000117153), KLHL29 (ENSG00000119771), KBTBD7 (ENSG00000120696), KLHL7 (ENSG00000122550), KLHL31 (ENSG00000124743), KLHDC7B (ENSG00000130487), KLHL36 (ENSG00000135686), KLHL8 (ENSG00000145332), KLHL3 (ENSG00000146021), KLHL35 (ENSG00000149243), KLHL1 (ENSG00000150361), BACH1 (ENSG00000156273), KLHL40 (ENSG00000157119), KLHL10 (ENSG00000161594), KLHL21 (ENSG00000162413), KLHDC8A (ENSG00000162873), KBTBD8 (ENSG00000163376), KBTBD6 (ENSG00000165572), KLHL26 (ENSG00000167487), KLHL30 (ENSG00000168427), KBTBD2 (ENSG00000170852), KLHL6 (ENSG00000172578), KLHL15 (ENSG00000174010), KLHL38 (ENSG00000175946), KBTBD11 (ENSG00000176595), KLHDC7A (ENSG00000179023), KLHL28 (ENSG00000179454), KBTBD3 (ENSG00000182359)
Protein
Protein identifiers
Actin-binding protein IPP — Q9Y573 (reviewed: Q9Y573)
Alternative names: Intracisternal A particle-promoted polypeptide, Kelch-like protein 27
All UniProt accessions (1): Q9Y573
UniProt curated annotations — full annotation on UniProt →
Function. May play a role in organizing the actin cytoskeleton.
Subcellular location. Cytoplasm. Cytoskeleton.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9Y573-1 | 1 | yes |
| Q9Y573-2 | 2 |
RefSeq proteins (2): NP_001138821, NP_005888* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000210 | BTB/POZ_dom | Domain |
| IPR006652 | Kelch_1 | Repeat |
| IPR011043 | Gal_Oxase/kelch_b-propeller | Homologous_superfamily |
| IPR011333 | SKP1/BTB/POZ_sf | Homologous_superfamily |
| IPR011705 | BACK | Domain |
| IPR015915 | Kelch-typ_b-propeller | Homologous_superfamily |
| IPR017096 | BTB-kelch_protein | Family |
| IPR030104 | BTB_POZ_IPP | Domain |
| IPR047067 | IPP_BACK | Domain |
Pfam: PF00651, PF01344, PF07707, PF24681
UniProt features (10 total): repeat 6, chain 1, domain 1, splice variant 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y573-F1 | 90.12 | 0.70 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 142 (showing top):
BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, MODULE_511, BLALOCK_ALZHEIMERS_DISEASE_UP, chr1p34, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, GOMF_ACTIN_BINDING, GOBP_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS, HU_GENOTOXIN_ACTION_DIRECT_VS_INDIRECT_24HR, GOBP_PROTEIN_CATABOLIC_PROCESS, GOCC_TRANSFERASE_COMPLEX, GOBP_PROTEOLYSIS, GOCC_CULLIN_RING_UBIQUITIN_LIGASE_COMPLEX
GO Biological Process (1): proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)
GO Molecular Function (3): actin binding (GO:0003779), ubiquitin-like ligase-substrate adaptor activity (GO:1990756), protein binding (GO:0005515)
GO Cellular Component (4): cytoplasm (GO:0005737), actin cytoskeleton (GO:0015629), Cul3-RING ubiquitin ligase complex (GO:0031463), cytoskeleton (GO:0005856)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| ubiquitin-dependent protein catabolic process | 1 |
| proteasomal protein catabolic process | 1 |
| cytoskeletal protein binding | 1 |
| enzyme-substrate adaptor activity | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| cytoskeleton | 1 |
| cullin-RING ubiquitin ligase complex | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
486 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| IPP | MINPP1 | Q9UNW1 | 881 |
| IPP | CYB561A3 | Q8NBI2 | 560 |
| IPP | ZNF836 | Q6ZNA1 | 524 |
| IPP | POLR3H | Q9Y535 | 484 |
| IPP | PIGL | Q9Y2B2 | 477 |
| IPP | KLHDC1 | Q8N7A1 | 404 |
| IPP | CPPED1 | Q9BRF8 | 402 |
| IPP | OLFML2A | Q68BL7 | 392 |
| IPP | PLA2G12A | Q9BZM1 | 380 |
| IPP | PHYH | O14832 | 379 |
| IPP | ENDOD1 | O94919 | 375 |
| IPP | RPL6 | Q02878 | 370 |
| IPP | UQCRB | P14927 | 368 |
| IPP | MRPL41 | Q8IXM3 | 364 |
| IPP | STK35 | Q8TDR2 | 360 |
IntAct
44 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PEF1 | PDCD6 | psi-mi:“MI:0914”(association) | 0.900 |
| KLHL12 | KLHL2 | psi-mi:“MI:0914”(association) | 0.850 |
| KLHL26 | CUL3 | psi-mi:“MI:0914”(association) | 0.730 |
| KLHL24 | CUL3 | psi-mi:“MI:0914”(association) | 0.730 |
| KLHL21 | CUL3 | psi-mi:“MI:0914”(association) | 0.640 |
| CUL3 | ENC1 | psi-mi:“MI:0914”(association) | 0.640 |
| KLHL22 | METTL15 | psi-mi:“MI:0914”(association) | 0.640 |
| KLHL9 | ENC1 | psi-mi:“MI:0914”(association) | 0.640 |
| ZNF517 | GGPS1 | psi-mi:“MI:0914”(association) | 0.530 |
| CUL3 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.530 |
| TACC3 | HSPA8 | psi-mi:“MI:0914”(association) | 0.530 |
| KLHL9 | KLHL26 | psi-mi:“MI:0914”(association) | 0.530 |
| CUL3 | PXDNL | psi-mi:“MI:0914”(association) | 0.350 |
| KLHL20 | KRBA1 | psi-mi:“MI:0914”(association) | 0.350 |
| CUL3 | KLHL2 | psi-mi:“MI:0914”(association) | 0.350 |
| KLHL28 | PRKACB | psi-mi:“MI:0914”(association) | 0.350 |
| LANCL1 | MYO7A | psi-mi:“MI:0914”(association) | 0.350 |
| FERMT3 | FERMT2 | psi-mi:“MI:0914”(association) | 0.350 |
| MAPK1 | SEC16A | psi-mi:“MI:0914”(association) | 0.350 |
| KLHL12 | SKP1 | psi-mi:“MI:0914”(association) | 0.350 |
| FBXL17 | ZBTB5 | psi-mi:“MI:0914”(association) | 0.350 |
| FBXL17 | ENC1 | psi-mi:“MI:0914”(association) | 0.350 |
| DNAL4 | WDR91 | psi-mi:“MI:0914”(association) | 0.350 |
| BACH2 | ENC1 | psi-mi:“MI:0914”(association) | 0.350 |
| OVOL2 | TNPO2 | psi-mi:“MI:0914”(association) | 0.350 |
| MAPK1 | SPAG9 | psi-mi:“MI:0914”(association) | 0.350 |
| COL16A1 | PLOD3 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF777 | PTCD1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (64): IPP (Affinity Capture-MS), IPP (Affinity Capture-MS), IPP (Affinity Capture-MS), IPP (Affinity Capture-MS), IPP (Affinity Capture-MS), IPP (Affinity Capture-MS), IPP (Affinity Capture-MS), IPP (Affinity Capture-MS), IPP (Affinity Capture-MS), IPP (Affinity Capture-MS), IPP (Affinity Capture-MS), IPP (Affinity Capture-MS), IPP (Affinity Capture-MS), IPP (Affinity Capture-MS), IPP (Affinity Capture-MS)
ESM2 similar proteins: A0A2R8Q1W5, A6QQY2, B0WWP2, B3NDN0, B4HIK1, B4L0G9, B4LIG6, B4PD06, D3Z8N4, E0CZ16, E1B932, E7F6F9, E9Q4F2, F1LZ52, O94889, P28575, P57790, P59280, Q08DK3, Q14145, Q16RL8, Q2T9Z7, Q53G59, Q5R774, Q5R7B8, Q5U374, Q5ZKD9, Q5ZLD3, Q684M4, Q6DFF6, Q6JEL2, Q6JEL3, Q6NRH0, Q6TDP3, Q6TDP4, Q6ZPT1, Q7QGL0, Q80TF4, Q8BZM0, Q8K430
Diamond homologs: A0A1B8YAB1, A1YPR0, B0WWP2, B1H285, B3M9V8, B3NDN0, B4GRJ2, B4HIK1, B4J045, B4L0G9, B4LIG6, B4MXW3, B4PD06, B4QLQ2, C9JR72, D3Z8N4, E0CZ16, G3X9X1, O15062, O88939, O93567, O95365, P28575, P41182, P41183, Q08CL3, Q08DK3, Q13105, Q16RL8, Q2M0J9, Q3UQV5, Q52KB5, Q5EXX3, Q5R7B8, Q5RDY3, Q5TC79, Q5ZI33, Q5ZKD9, Q5ZM39, Q60821
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 51 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 |
|---|---|---|---|
| Class I MHC mediated antigen processing & presentation | 6 | 13.6× | 9e-04 |
| Neddylation | 7 | 10.7× | 9e-04 |
| Antigen processing: Ubiquitination & Proteasome degradation | 7 | 8.4× | 2e-03 |
| Adaptive Immune System | 7 | 6.7× | 5e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| integrin-mediated signaling pathway | 5 | 16.7× | 7e-04 |
| endoplasmic reticulum to Golgi vesicle-mediated transport | 5 | 14.2× | 1e-03 |
| proteasome-mediated ubiquitin-dependent protein catabolic process | 12 | 13.0× | 3e-08 |
| protein ubiquitination | 11 | 9.5× | 3e-06 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
99 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 79 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1782 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:45714245:CCT:C | donor_gain | 1.0000 |
| 1:45714362:CCAT:C | acceptor_gain | 1.0000 |
| 1:45714363:C:T | acceptor_gain | 1.0000 |
| 1:45714363:CAT:C | acceptor_gain | 1.0000 |
| 1:45716891:TTA:T | donor_loss | 1.0000 |
| 1:45716892:TAC:T | donor_loss | 1.0000 |
| 1:45716894:CCTTG:C | donor_gain | 1.0000 |
| 1:45716951:T:TA | donor_gain | 1.0000 |
| 1:45716952:C:A | donor_gain | 1.0000 |
| 1:45717013:TCCAC:T | acceptor_gain | 1.0000 |
| 1:45717014:CCAC:C | acceptor_gain | 1.0000 |
| 1:45717014:CCACC:C | acceptor_gain | 1.0000 |
| 1:45717015:CAC:C | acceptor_gain | 1.0000 |
| 1:45717015:CACC:C | acceptor_gain | 1.0000 |
| 1:45717015:CACCT:C | acceptor_loss | 1.0000 |
| 1:45717016:AC:A | acceptor_gain | 1.0000 |
| 1:45717016:ACCTG:A | acceptor_loss | 1.0000 |
| 1:45717017:CC:C | acceptor_gain | 1.0000 |
| 1:45717018:C:CC | acceptor_gain | 1.0000 |
| 1:45719232:CACA:C | donor_gain | 1.0000 |
| 1:45719234:CA:C | donor_gain | 1.0000 |
| 1:45719235:A:AC | donor_gain | 1.0000 |
| 1:45719236:C:CC | donor_gain | 1.0000 |
| 1:45727625:TATTA:T | donor_loss | 1.0000 |
| 1:45727627:TTACC:T | donor_loss | 1.0000 |
| 1:45727628:TA:T | donor_loss | 1.0000 |
| 1:45727630:C:CG | donor_loss | 1.0000 |
| 1:45727669:C:CA | donor_gain | 1.0000 |
| 1:45727795:CCAC:C | acceptor_gain | 1.0000 |
| 1:45727796:CAC:C | acceptor_gain | 1.0000 |
AlphaMissense
3819 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:45719281:A:G | W370R | 1.000 |
| 1:45719281:A:T | W370R | 1.000 |
| 1:45700025:A:G | W566R | 0.999 |
| 1:45700025:A:T | W566R | 0.999 |
| 1:45700046:A:C | Y559D | 0.999 |
| 1:45716953:C:A | W417C | 0.999 |
| 1:45716953:C:G | W417C | 0.999 |
| 1:45716955:A:G | W417R | 0.999 |
| 1:45716955:A:T | W417R | 0.999 |
| 1:45717014:C:T | G397E | 0.999 |
| 1:45719279:C:A | W370C | 0.999 |
| 1:45719279:C:G | W370C | 0.999 |
| 1:45727633:C:T | G349E | 0.999 |
| 1:45727712:A:G | W323R | 0.999 |
| 1:45727712:A:T | W323R | 0.999 |
| 1:45727735:C:G | R315P | 0.999 |
| 1:45741006:A:G | W207R | 0.999 |
| 1:45741006:A:T | W207R | 0.999 |
| 1:45741285:C:G | A114P | 0.999 |
| 1:45700023:C:A | W566C | 0.998 |
| 1:45700023:C:G | W566C | 0.998 |
| 1:45714304:C:T | G491E | 0.998 |
| 1:45714314:A:C | Y488D | 0.998 |
| 1:45714448:C:T | G443E | 0.998 |
| 1:45714449:C:A | G443W | 0.998 |
| 1:45719250:C:G | R380P | 0.998 |
| 1:45719340:C:T | G350D | 0.998 |
| 1:45741077:A:G | L183P | 0.998 |
| 1:45741284:G:T | A114E | 0.998 |
| 1:45699994:C:G | R576P | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000011065 (1:45709057 GA>G,GAA), RS1000013616 (1:45696316 C>A,G,T), RS1000129756 (1:45740145 T>C), RS1000193583 (1:45742240 T>G), RS1000222642 (1:45740558 C>A,G), RS1000316062 (1:45722948 G>A), RS1000406623 (1:45713031 G>A), RS1000523538 (1:45734671 G>A), RS1000546788 (1:45744856 T>A,G), RS1000587567 (1:45735366 G>A), RS1000654230 (1:45733576 C>T), RS1000733512 (1:45705761 GC>G,GCC), RS1000765921 (1:45744658 G>A), RS1000769671 (1:45727166 C>A), RS1000860229 (1:45724821 G>A,C,T)
Disease associations
OMIM: gene MIM:147485 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
15 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004571_9 | Iron status biomarkers (total iron binding capacity) | 2.000000e-07 |
| GCST004572_21 | Iron status biomarkers (transferrin saturation) | 2.000000e-07 |
| GCST005951_37 | Body mass index | 8.000000e-10 |
| GCST005991_75 | Platelet count | 2.000000e-10 |
| GCST010083_240 | Hemoglobin levels | 2.000000e-20 |
| GCST010696_7 | Cortical thickness (min-P) | 3.000000e-08 |
| GCST010697_28 | Cortical surface area (min-P) | 2.000000e-08 |
| GCST010698_30 | Subcortical volume (min-P) | 3.000000e-08 |
| GCST010699_45 | Brain morphology (min-P) | 3.000000e-08 |
| GCST010700_23 | Cortical thickness (MOSTest) | 1.000000e-10 |
| GCST010701_9 | Cortical surface area (MOSTest) | 2.000000e-08 |
| GCST010702_139 | Subcortical volume (MOSTest) | 4.000000e-14 |
| GCST010703_258 | Brain morphology (MOSTest) | 2.000000e-13 |
| GCST010988_531 | Adult body size | 4.000000e-14 |
| GCST012020_65 | Serum metabolite levels | 1.000000e-17 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006334 | total iron binding capacity |
| EFO:0004340 | body mass index |
| EFO:0004309 | platelet count |
| EFO:0004509 | hemoglobin measurement |
| EFO:0004346 | neuroimaging measurement |
| EFO:0004840 | cortical thickness |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
30 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, affects expression | 6 |
| trichostatin A | decreases expression, affects expression, affects cotreatment | 4 |
| Cadmium Chloride | decreases expression, increases abundance, increases expression | 2 |
| GSK-J4 | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| butyraldehyde | decreases expression | 1 |
| cupric oxide | decreases expression | 1 |
| di-n-butylphosphoric acid | 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 | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Resveratrol | increases expression, affects cotreatment | 1 |
| Temozolomide | decreases expression | 1 |
| Leflunomide | decreases expression | 1 |
| Cadmium | increases expression, increases abundance | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Hydrogen Peroxide | decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Nickel | decreases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Vitamin E | decreases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Copper Sulfate | decreases 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.