PPFIBP2
gene geneOn this page
Also known as Cclp1
Summary
PPFIBP2 (PPFIB scaffold protein 2, HGNC:9250) is a protein-coding gene on chromosome 11p15.4, encoding Liprin-beta-2 (Q8ND30). May regulate the disassembly of focal adhesions.
This gene encodes a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. The encoded protein is a beta liprin and plays a role in axon guidance and neuronal synapse development by recruiting LAR protein-tyrosine phosphatases to the plasma membrane. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
Source: NCBI Gene 8495 — RefSeq curated summary.
At a glance
- GWAS associations: 11
- Clinical variants (ClinVar): 172 total
- MANE Select transcript:
NM_003621
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:9250 |
| Approved symbol | PPFIBP2 |
| Name | PPFIB scaffold protein 2 |
| Location | 11p15.4 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | Cclp1 |
| Ensembl gene | ENSG00000166387 |
| Ensembl biotype | protein_coding |
| OMIM | 603142 |
| Entrez | 8495 |
Gene structure
Transcript identifiers
Ensembl transcripts: 33 — 21 protein_coding, 8 retained_intron, 4 protein_coding_CDS_not_defined
ENST00000299492, ENST00000524495, ENST00000524548, ENST00000525597, ENST00000526046, ENST00000526873, ENST00000527790, ENST00000528883, ENST00000528929, ENST00000528947, ENST00000529021, ENST00000529321, ENST00000529575, ENST00000529664, ENST00000530081, ENST00000530181, ENST00000530189, ENST00000530582, ENST00000532112, ENST00000532172, ENST00000532381, ENST00000532416, ENST00000532926, ENST00000533792, ENST00000534409, ENST00000534552, ENST00000650027, ENST00000684123, ENST00000684215, ENST00000857460, ENST00000857461, ENST00000857462, ENST00000933098
RefSeq mRNA: 13 — MANE Select: NM_003621
NM_001256568, NM_001256569, NM_001351853, NM_001351854, NM_001351855, NM_001351856, NM_001351857, NM_001351858, NM_001351859, NM_001351860, NM_001351861, NM_001351862, NM_003621
CCDS: CCDS31419, CCDS58116, CCDS58117, CCDS91429
Canonical transcript exons
ENST00000299492 — 24 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001102530 | 7630925 | 7631028 |
| ENSE00001102532 | 7620935 | 7621027 |
| ENSE00001102550 | 7625777 | 7625891 |
| ENSE00001102612 | 7565553 | 7565767 |
| ENSE00001278528 | 7549440 | 7549539 |
| ENSE00001416579 | 7513999 | 7514121 |
| ENSE00002165121 | 7653024 | 7653756 |
| ENSE00003459098 | 7648800 | 7648911 |
| ENSE00003461718 | 7649147 | 7649235 |
| ENSE00003486919 | 7597560 | 7597673 |
| ENSE00003494124 | 7651656 | 7651844 |
| ENSE00003495430 | 7610291 | 7610422 |
| ENSE00003508660 | 7642298 | 7642426 |
| ENSE00003522623 | 7648387 | 7648537 |
| ENSE00003523268 | 7593132 | 7593224 |
| ENSE00003525289 | 7628285 | 7628346 |
| ENSE00003531317 | 7650840 | 7650965 |
| ENSE00003548904 | 7639732 | 7639870 |
| ENSE00003554286 | 7634495 | 7634552 |
| ENSE00003558134 | 7649532 | 7649654 |
| ENSE00003590234 | 7635552 | 7635593 |
| ENSE00003608843 | 7641479 | 7641620 |
| ENSE00003630802 | 7629459 | 7629534 |
| ENSE00003687177 | 7632867 | 7632934 |
Expression profiles
Bgee: expression breadth ubiquitous, 269 present calls, max score 97.93.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.8198 / max 119.5701, expressed in 1349 samples.
FANTOM5 promoters (22 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 112903 | 2.2540 | 712 |
| 112902 | 1.4594 | 665 |
| 112914 | 0.4449 | 254 |
| 112901 | 0.3498 | 195 |
| 112913 | 0.2779 | 151 |
| 112912 | 0.2687 | 106 |
| 112922 | 0.2678 | 85 |
| 112926 | 0.2075 | 75 |
| 112907 | 0.1994 | 90 |
| 112924 | 0.1932 | 58 |
Top tissues by expression
296 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| parotid gland | UBERON:0001831 | 97.93 | gold quality |
| sural nerve | UBERON:0015488 | 97.46 | gold quality |
| hair follicle | UBERON:0002073 | 96.89 | gold quality |
| skin of leg | UBERON:0001511 | 95.64 | gold quality |
| skin of abdomen | UBERON:0001416 | 95.55 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 95.47 | gold quality |
| right uterine tube | UBERON:0001302 | 95.47 | gold quality |
| calcaneal tendon | UBERON:0003701 | 95.38 | gold quality |
| minor salivary gland | UBERON:0001830 | 95.15 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 94.70 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 94.64 | gold quality |
| thyroid gland | UBERON:0002046 | 94.61 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 94.55 | gold quality |
| zone of skin | UBERON:0000014 | 94.46 | gold quality |
| right lobe of liver | UBERON:0001114 | 94.44 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 94.38 | gold quality |
| left testis | UBERON:0004533 | 94.27 | gold quality |
| mouth mucosa | UBERON:0003729 | 94.06 | gold quality |
| right testis | UBERON:0004534 | 94.05 | gold quality |
| rectum | UBERON:0001052 | 93.98 | gold quality |
| seminal vesicle | UBERON:0000998 | 93.66 | gold quality |
| esophagus mucosa | UBERON:0002469 | 92.82 | gold quality |
| testis | UBERON:0000473 | 92.78 | gold quality |
| stomach | UBERON:0000945 | 92.52 | gold quality |
| body of stomach | UBERON:0001161 | 92.52 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 92.27 | gold quality |
| metanephros cortex | UBERON:0010533 | 92.25 | gold quality |
| nerve | UBERON:0001021 | 91.99 | gold quality |
| tibial nerve | UBERON:0001323 | 91.99 | gold quality |
| tonsil | UBERON:0002372 | 91.85 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-109979 | yes | 296.67 |
| E-HCAD-10 | yes | 14.65 |
| E-MTAB-9388 | yes | 13.35 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
10 targeting PPFIBP2, 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-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-7110-5P | 99.80 | 67.84 | 1712 |
| HSA-MIR-6842-5P | 99.80 | 67.54 | 1587 |
| HSA-MIR-6752-5P | 99.59 | 67.32 | 1243 |
| HSA-MIR-4318 | 99.38 | 66.94 | 1505 |
| HSA-MIR-5582-5P | 99.27 | 71.42 | 1879 |
| HSA-MIR-4711-3P | 98.97 | 66.87 | 1020 |
| HSA-MIR-6823-5P | 96.26 | 65.69 | 919 |
Literature-anchored findings (GeneRIF, showing 5)
- analysis of crystal structure of the central coiled-coil domain from human liprin-beta2 (PMID:21462929)
- Knockdown of either Rab17 or liprin-beta2 restores invasiveness of ERK2-depleted cells, indicating that ERK2 drives invasion of MDA-MB-231 cells by suppressing expression of these genes. (PMID:22328529)
- rs12791447 is associated with prostate cancer susceptibility in Asians. mRNA levels of PPFIBP2 are differentially expressed in prostate tumours and paired normal tissues. (PMID:26443449)
- Analysis of the role of liprin-beta1 and liprin-beta2 has shown that while liprin-beta1 contributes positively to tumour cell motility in vitro; liprin-beta2 has a negative effect on both cell motility and invasion. (PMID:26663347)
- germline mutations in a novel gene, PPFIBP2, differentiated risk for lethal prostate cancer from low-risk cases and were associated with shorter survival times after diagnosis. (PMID:30043417)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ppfibp2b | ENSDARG00000029168 |
| danio_rerio | ppfibp2a | ENSDARG00000061977 |
| mus_musculus | Ppfibp2 | ENSMUSG00000036528 |
| rattus_norvegicus | Ppfibp2 | ENSRNOG00000019667 |
| drosophila_melanogaster | Liprin-beta | FBGN0036376 |
| caenorhabditis_elegans | WBGENE00011904 |
Paralogs (5): PPFIBP1 (ENSG00000110841), PPFIA1 (ENSG00000131626), PPFIA2 (ENSG00000139220), PPFIA4 (ENSG00000143847), PPFIA3 (ENSG00000177380)
Protein
Protein identifiers
Liprin-beta-2 — Q8ND30 (reviewed: Q8ND30)
Alternative names: Protein tyrosine phosphatase receptor type f polypeptide-interacting protein-binding protein 2
All UniProt accessions (14): A0A3B3IS15, A0A804HJY3, A0A804HKA2, Q8ND30, E9PI79, E9PIK8, E9PJA0, E9PK17, E9PMH3, E9PMN3, E9PP16, H0YDJ2, H0YDM0, H0YET1
UniProt curated annotations — full annotation on UniProt →
Function. May regulate the disassembly of focal adhesions. Did not bind receptor-like tyrosine phosphatases type 2A.
Subunit / interactions. Forms homodimers and heterodimers.
Tissue specificity. Widely expressed.
Domain organisation. The N-terminal coiled coil regions mediate homodimerization preferentially and heterodimerization type beta/beta. The C-terminal, non-coiled coil regions mediate heterodimerization type beta/alpha.
Similarity. Belongs to the liprin family. Liprin-beta subfamily.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8ND30-1 | 1 | yes |
| Q8ND30-2 | 2 | |
| Q8ND30-3 | 3 |
RefSeq proteins (13): NP_001243497, NP_001243498, NP_001338782, NP_001338783, NP_001338784, NP_001338785, NP_001338786, NP_001338787, NP_001338788, NP_001338789, NP_001338790, NP_001338791, NP_003612* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001660 | SAM | Domain |
| IPR013761 | SAM/pointed_sf | Homologous_superfamily |
| IPR029515 | Liprin | Family |
| IPR037617 | LIPB1/2_SAM_1 | Domain |
| IPR037618 | LIPB1/2_SAM_2nd | Domain |
| IPR037619 | LIPB1/2_SAM_3rd | Domain |
| IPR058914 | LIPB1/2_CC | Domain |
Pfam: PF00536, PF07647, PF26022
UniProt features (25 total): sequence conflict 5, modified residue 4, splice variant 4, region of interest 4, domain 3, chain 1, sequence variant 1, helix 1, coiled-coil region 1, compositionally biased region 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3QH9 | X-RAY DIFFRACTION | 2.01 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8ND30-F1 | 71.04 | 0.42 |
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 (4): 329, 363, 387, 512
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-388844 | Receptor-type tyrosine-protein phosphatases |
| R-HSA-112316 | Neuronal System |
| R-HSA-6794362 | Protein-protein interactions at synapses |
MSigDB gene sets: 180 (showing top):
GOBP_NEUROMUSCULAR_JUNCTION_DEVELOPMENT, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, ASTON_MAJOR_DEPRESSIVE_DISORDER_DN, CERVERA_SDHB_TARGETS_1_DN, GOBP_CELL_JUNCTION_ORGANIZATION, BLALOCK_ALZHEIMERS_DISEASE_UP, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5, GOTZMANN_EPITHELIAL_TO_MESENCHYMAL_TRANSITION_DN, CHARAFE_BREAST_CANCER_LUMINAL_VS_MESENCHYMAL_UP, GOCC_SYNAPSE, MASSARWEH_TAMOXIFEN_RESISTANCE_UP, GOCC_PRESYNAPTIC_ACTIVE_ZONE, GOCC_PRESYNAPSE, ZHENG_GLIOBLASTOMA_PLASTICITY_DN
GO Biological Process (1): neuromuscular junction development (GO:0007528)
GO Molecular Function (2): identical protein binding (GO:0042802), protein binding (GO:0005515)
GO Cellular Component (4): obsolete extracellular space (GO:0005615), cytosol (GO:0005829), presynaptic active zone (GO:0048786), presynapse (GO:0098793)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Protein-protein interactions at synapses | 1 |
| Neuronal System | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| synapse organization | 1 |
| protein binding | 1 |
| binding | 1 |
| cytoplasm | 1 |
| presynapse | 1 |
| synapse | 1 |
Protein interactions and networks
STRING
532 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PPFIBP2 | PTPRS | Q13332 | 683 |
| PPFIBP2 | PTPRD | P23468 | 642 |
| PPFIBP2 | TCFL5 | Q9UL49 | 574 |
| PPFIBP2 | GRIP1 | Q9Y3R0 | 570 |
| PPFIBP2 | TRIO | O75962 | 480 |
| PPFIBP2 | PPFIA1 | Q13136 | 477 |
| PPFIBP2 | GLOD5 | A6NK44 | 472 |
| PPFIBP2 | GRIA1 | P42261 | 470 |
| PPFIBP2 | PPFIA3 | O75145 | 466 |
| PPFIBP2 | PPFIA2 | O75334 | 446 |
| PPFIBP2 | PPFIA4 | O75335 | 437 |
| PPFIBP2 | PTPRF | P10586 | 430 |
| PPFIBP2 | MRRF | Q96E11 | 424 |
| PPFIBP2 | TMEM231 | Q9H6L2 | 418 |
| PPFIBP2 | TIFAB | Q6ZNK6 | 418 |
IntAct
33 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CRK | PPFIBP2 | psi-mi:“MI:0915”(physical association) | 0.800 |
| YWHAH | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.610 |
| PPFIBP2 | RPC11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RPC11 | PPFIBP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PPFIBP2 | HSF4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| YWHAQ | IGLC7 | psi-mi:“MI:0914”(association) | 0.530 |
| YWHAZ | BLTP3B | psi-mi:“MI:0914”(association) | 0.530 |
| CRK | ARHGAP42 | psi-mi:“MI:0914”(association) | 0.530 |
| PPFIBP2 | SNAP29 | psi-mi:“MI:0914”(association) | 0.530 |
| PPFIBP2 | H2BC9 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PPFIBP2 | SFN | psi-mi:“MI:0915”(physical association) | 0.400 |
| CRKL | PPFIBP2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TSG101 | PPFIBP2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| DTNB | PPFIBP2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| GAMMAHV.ORF23 | PPFIBP2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| YWHAG | C1orf226 | psi-mi:“MI:0914”(association) | 0.350 |
| YWHAE | DEPDC5 | psi-mi:“MI:0914”(association) | 0.350 |
| CCR1 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| SNAP29 | SNAP23 | psi-mi:“MI:0914”(association) | 0.350 |
| CREB3L2 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| PPFIBP2 | TBC1D4 | psi-mi:“MI:0914”(association) | 0.350 |
| LAMP1 | PIPSL | psi-mi:“MI:2364”(proximity) | 0.270 |
| ARHGAP32 | psi-mi:“MI:2364”(proximity) | 0.270 | |
| NTRK1 | C1orf226 | psi-mi:“MI:2364”(proximity) | 0.270 |
| HSF4 | PPFIBP2 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (52): PPFIBP2 (Two-hybrid), PPFIBP2 (Two-hybrid), PPFIBP2 (Reconstituted Complex), PPFIA1 (Two-hybrid), PPFIA2 (Two-hybrid), PPFIBP2 (Biochemical Activity), PPFIBP2 (Two-hybrid), PPFIBP2 (Affinity Capture-RNA), PPFIBP2 (Affinity Capture-MS), PPFIBP2 (Affinity Capture-MS), PPFIBP2 (Affinity Capture-MS), PPFIBP2 (Two-hybrid), PPFIBP2 (Proximity Label-MS), PPFIBP2 (Proximity Label-MS), PPFIBP2 (Proximity Label-MS)
ESM2 similar proteins: A0A1L8GUX5, A0A1L8GXY6, A0A1W2P884, A2CE83, B8A5S6, E7F5E1, F7DP49, H2MTR9, O08970, O35711, O60296, P27628, P53564, P60853, Q0VF96, Q28GJ0, Q2KJD6, Q3UIJ9, Q4V7D3, Q5BIX7, Q5R923, Q5SXA9, Q5SZL2, Q5U2Y9, Q5U4W1, Q5ZLT3, Q6AW69, Q6DIS8, Q6DJR2, Q6NRW2, Q6NXJ0, Q6P402, Q6PCQ0, Q6PD31, Q7TQE6, Q80ST9, Q86W92, Q8BMK0, Q8C8U0, Q8CFC9
Diamond homologs: A9C3W3, O35711, O75145, O75334, O75335, P60469, Q13136, Q21049, Q5FWS6, Q674X7, Q69ZS8, Q86W92, Q8BSS9, Q8C8U0, Q8ND30, Q91Z79, Q91Z80, Q94071
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 31 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 |
|---|---|---|---|
| Activation of BAD and translocation to mitochondria | 6 | 182.7× | 3e-11 |
| Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex | 6 | 161.2× | 4e-11 |
| SARS-CoV-1 targets host intracellular signalling and regulatory pathways | 6 | 161.2× | 4e-11 |
| Activation of BH3-only proteins | 6 | 119.2× | 2e-10 |
| RHO GTPases activate PKNs | 6 | 76.1× | 3e-09 |
| Intrinsic Pathway for Apoptosis | 6 | 70.3× | 5e-09 |
| Translocation of SLC2A4 (GLUT4) to the plasma membrane | 8 | 49.4× | 9e-11 |
| SARS-CoV-1-host interactions | 6 | 42.2× | 9e-08 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| intracellular protein localization | 6 | 24.1× | 4e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
172 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 130 |
| Likely benign | 7 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4262 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:7565549:GCA:G | acceptor_loss | 1.0000 |
| 11:7565551:A:AG | acceptor_gain | 1.0000 |
| 11:7565551:AG:A | acceptor_gain | 1.0000 |
| 11:7565552:G:GG | acceptor_gain | 1.0000 |
| 11:7565552:GG:G | acceptor_gain | 1.0000 |
| 11:7565552:GGC:G | acceptor_gain | 1.0000 |
| 11:7565552:GGCA:G | acceptor_gain | 1.0000 |
| 11:7565748:A:T | donor_gain | 1.0000 |
| 11:7565763:GCTTG:G | donor_gain | 1.0000 |
| 11:7565765:TTGGT:T | donor_loss | 1.0000 |
| 11:7565767:GGTG:G | donor_loss | 1.0000 |
| 11:7565768:G:GG | donor_gain | 1.0000 |
| 11:7565768:G:T | donor_loss | 1.0000 |
| 11:7565770:GAGTA:G | donor_loss | 1.0000 |
| 11:7593130:A:AG | acceptor_gain | 1.0000 |
| 11:7593131:G:GT | acceptor_gain | 1.0000 |
| 11:7593131:GTC:G | acceptor_gain | 1.0000 |
| 11:7593131:GTCC:G | acceptor_gain | 1.0000 |
| 11:7593222:CAGG:C | donor_loss | 1.0000 |
| 11:7593224:GGTG:G | donor_loss | 1.0000 |
| 11:7593225:GT:G | donor_loss | 1.0000 |
| 11:7610282:T:TA | acceptor_gain | 1.0000 |
| 11:7610285:TTGCA:T | acceptor_loss | 1.0000 |
| 11:7610287:GCAGG:G | acceptor_loss | 1.0000 |
| 11:7610288:CA:C | acceptor_loss | 1.0000 |
| 11:7610288:CAGG:C | acceptor_gain | 1.0000 |
| 11:7610289:A:AG | acceptor_gain | 1.0000 |
| 11:7610289:AG:A | acceptor_gain | 1.0000 |
| 11:7610289:AGGA:A | acceptor_gain | 1.0000 |
| 11:7610290:G:GT | acceptor_gain | 1.0000 |
AlphaMissense
5738 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:7593214:T:C | L121P | 0.999 |
| 11:7597570:T:C | L128P | 0.999 |
| 11:7597612:T:C | L142P | 0.999 |
| 11:7610295:T:C | L164P | 0.999 |
| 11:7610304:G:C | R167P | 0.999 |
| 11:7621014:T:C | L233P | 0.999 |
| 11:7625793:T:C | L243P | 0.999 |
| 11:7629478:T:C | L303P | 0.999 |
| 11:7651732:G:C | R775P | 0.999 |
| 11:7597570:T:A | L128H | 0.998 |
| 11:7597666:T:C | L160P | 0.998 |
| 11:7620960:T:C | L215P | 0.998 |
| 11:7649577:A:C | S682R | 0.998 |
| 11:7649579:C:A | S682R | 0.998 |
| 11:7649579:C:G | S682R | 0.998 |
| 11:7650894:T:A | W726R | 0.998 |
| 11:7650894:T:C | W726R | 0.998 |
| 11:7651723:T:A | L772H | 0.998 |
| 11:7549513:T:C | L13P | 0.997 |
| 11:7597579:A:C | Q131P | 0.997 |
| 11:7597587:G:C | A134P | 0.997 |
| 11:7597645:T:C | L153P | 0.997 |
| 11:7625835:T:C | L257P | 0.997 |
| 11:7628303:T:C | L282P | 0.997 |
| 11:7649149:T:A | W638R | 0.997 |
| 11:7649149:T:C | W638R | 0.997 |
| 11:7650870:T:A | W718R | 0.997 |
| 11:7650870:T:C | W718R | 0.997 |
| 11:7650934:T:C | L739P | 0.997 |
| 11:7651738:T:C | L777P | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000013445 (11:7559084 T>C), RS1000017793 (11:7594599 T>C,G), RS1000030660 (11:7578183 A>G), RS1000072734 (11:7638722 C>G), RS1000090336 (11:7606855 T>C), RS1000095777 (11:7598277 C>T), RS1000116571 (11:7563227 G>A), RS1000214319 (11:7657636 C>G), RS1000232079 (11:7527074 C>T), RS1000239968 (11:7547167 C>T), RS1000265618 (11:7540256 G>C,T), RS1000284086 (11:7575889 G>A), RS1000307971 (11:7596149 T>C,G), RS1000334460 (11:7614765 T>G), RS1000367284 (11:7657735 C>A,T)
Disease associations
OMIM: gene MIM:603142 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
11 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003148_2 | Prostate cancer | 4.000000e-08 |
| GCST006075_11 | Hair color | 3.000000e-37 |
| GCST006083_3 | Prostate cancer (advanced) | 1.000000e-07 |
| GCST006085_46 | Prostate cancer | 7.000000e-09 |
| GCST006988_49 | Blond vs. brown/black hair color | 1.000000e-42 |
| GCST006989_21 | Brown vs. black hair color | 4.000000e-08 |
| GCST007676_6 | 3-month functional outcome in ischaemic stroke (modified Rankin score) | 4.000000e-06 |
| GCST010302_37 | Cutaneous melanoma or hair colour | 2.000000e-33 |
| GCST010725_20 | Malaria | 4.000000e-69 |
| GCST010725_33 | Malaria | 2.000000e-67 |
| GCST010725_51 | Malaria | 1.000000e-55 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0003924 | hair color |
| EFO:0009603 | stroke outcome severity measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
42 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Estradiol | decreases expression, affects cotreatment | 4 |
| Benzo(a)pyrene | affects methylation, decreases expression, increases methylation | 3 |
| Valproic Acid | increases expression, affects expression | 3 |
| Arsenic | affects methylation, decreases expression, increases abundance | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Progesterone | affects response to substance, affects cotreatment, decreases expression | 2 |
| Tretinoin | increases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| FR900359 | affects phosphorylation | 1 |
| bisphenol A | affects cotreatment, decreases methylation | 1 |
| sodium arsenate | decreases expression, increases abundance | 1 |
| trichostatin A | decreases expression | 1 |
| mono-(2-ethylhexyl)phthalate | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 3-nitrobenzanthrone | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression, affects cotreatment | 1 |
| ICG 001 | increases expression | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Air Pollutants | decreases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Calcitriol | increases expression, affects cotreatment | 1 |
| Cisplatin | decreases expression | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Doxorubicin | 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.