KIAA1217
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Also known as DKFZP761L0424SKTETL4
Summary
KIAA1217 (HGNC:25428) is a protein-coding gene on chromosome 10p12.2-p12.1, encoding Sickle tail protein homolog (Q5T5P2). Required for normal development of intervertebral disks.
Predicted to be involved in embryonic skeletal system development. Located in centrosome.
Source: NCBI Gene 56243 — RefSeq curated summary.
At a glance
- Gene–disease (curated): skeletal system disorder (Moderate, GenCC)
- GWAS associations: 15
- Clinical variants (ClinVar): 338 total
- MANE Select transcript:
NM_019590
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25428 |
| Approved symbol | KIAA1217 |
| Name | KIAA1217 |
| Location | 10p12.2-p12.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZP761L0424, SKT, ETL4 |
| Ensembl gene | ENSG00000120549 |
| Ensembl biotype | protein_coding |
| OMIM | 617367 |
| Entrez | 56243 |
Gene structure
Transcript identifiers
Ensembl transcripts: 25 — 22 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000307544, ENST00000376451, ENST00000376452, ENST00000376454, ENST00000376456, ENST00000376462, ENST00000396445, ENST00000396446, ENST00000430453, ENST00000438429, ENST00000458595, ENST00000460373, ENST00000481700, ENST00000492009, ENST00000635163, ENST00000635504, ENST00000636305, ENST00000696626, ENST00000881132, ENST00000881133, ENST00000881134, ENST00000881135, ENST00000881136, ENST00000914453, ENST00000914454
RefSeq mRNA: 7 — MANE Select: NM_019590
NM_001098500, NM_001282767, NM_001282768, NM_001282769, NM_001282770, NM_001321681, NM_019590
CCDS: CCDS31165, CCDS41496, CCDS60501, CCDS60502, CCDS60504, CCDS60505
Canonical transcript exons
ENST00000376454 — 21 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000504067 | 24494500 | 24494604 |
| ENSE00000694242 | 24513259 | 24513434 |
| ENSE00000694247 | 24521782 | 24521929 |
| ENSE00000985424 | 24524323 | 24524764 |
| ENSE00000985426 | 24531830 | 24531993 |
| ENSE00000985427 | 24533070 | 24533237 |
| ENSE00001137271 | 24542693 | 24542770 |
| ENSE00001137278 | 24536774 | 24536893 |
| ENSE00001244543 | 24520123 | 24520253 |
| ENSE00001244561 | 24495147 | 24495196 |
| ENSE00001470585 | 24542883 | 24544481 |
| ENSE00001470610 | 24545827 | 24547843 |
| ENSE00001737093 | 24432995 | 24433193 |
| ENSE00001799508 | 24438386 | 24438479 |
| ENSE00001904791 | 24209138 | 24209263 |
| ENSE00002700858 | 24544981 | 24545103 |
| ENSE00003459586 | 24380869 | 24381067 |
| ENSE00003511563 | 24501379 | 24501545 |
| ENSE00003577228 | 24219626 | 24219909 |
| ENSE00003726774 | 24527936 | 24528119 |
| ENSE00003758710 | 24473228 | 24474060 |
Expression profiles
Bgee: expression breadth ubiquitous, 256 present calls, max score 98.00.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 22.7746 / max 487.4990, expressed in 1467 samples.
FANTOM5 promoters (39 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 104342 | 7.8022 | 1075 |
| 104311 | 3.5741 | 762 |
| 104318 | 2.4787 | 445 |
| 104308 | 1.5155 | 603 |
| 104336 | 1.0274 | 384 |
| 104319 | 0.8937 | 310 |
| 104343 | 0.6491 | 323 |
| 104309 | 0.6061 | 304 |
| 104329 | 0.5733 | 240 |
| 104328 | 0.5567 | 285 |
Top tissues by expression
259 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| epithelial cell of pancreas | CL:0000083 | 98.00 | gold quality |
| oviduct epithelium | UBERON:0004804 | 97.67 | gold quality |
| tibialis anterior | UBERON:0001385 | 96.61 | gold quality |
| pancreatic ductal cell | CL:0002079 | 96.59 | gold quality |
| gastrocnemius | UBERON:0001388 | 96.40 | gold quality |
| sural nerve | UBERON:0015488 | 95.77 | gold quality |
| muscle of leg | UBERON:0001383 | 95.65 | gold quality |
| minor salivary gland | UBERON:0001830 | 94.78 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 94.74 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 93.98 | gold quality |
| deltoid | UBERON:0001476 | 93.98 | gold quality |
| right uterine tube | UBERON:0001302 | 93.97 | gold quality |
| mouth mucosa | UBERON:0003729 | 93.96 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 93.54 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 93.38 | gold quality |
| endothelial cell | CL:0000115 | 93.08 | gold quality |
| gingival epithelium | UBERON:0001949 | 92.79 | gold quality |
| thyroid gland | UBERON:0002046 | 92.34 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 92.31 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 92.24 | gold quality |
| esophagus mucosa | UBERON:0002469 | 92.11 | gold quality |
| mammary gland | UBERON:0001911 | 91.73 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 91.66 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 91.43 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 91.40 | gold quality |
| mammary duct | UBERON:0001765 | 91.40 | gold quality |
| gingiva | UBERON:0001828 | 91.35 | gold quality |
| parotid gland | UBERON:0001831 | 91.12 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 91.07 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 91.03 | gold quality |
Single-cell (SCXA)
Detected in 11 experiment(s), a significant marker in 10.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-180759 | yes | 2565.73 |
| E-HCAD-30 | yes | 2560.06 |
| E-HCAD-35 | yes | 2454.39 |
| E-HCAD-25 | yes | 2053.47 |
| E-GEOD-75367 | yes | 206.70 |
| E-GEOD-83139 | yes | 10.66 |
| E-CURD-119 | yes | 9.99 |
| E-MTAB-6678 | yes | 8.30 |
| E-MTAB-9388 | yes | 5.86 |
| E-ANND-2 | no | 2835.00 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): AR
miRNA regulators (miRDB)
138 targeting KIAA1217, 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-98-3P | 100.00 | 74.08 | 3907 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
Literature-anchored findings (GeneRIF, showing 6)
- Using tag SNPs, we examined the association in two independent Japanese case-control populations and found a significant association of lumbar herniation with SKT rs16924573 in the allele frequency model (PMID:19338451)
- SKT is involved in the etiology of intervertebral disc degeneration among young adults. (PMID:22107760)
- Data suggest that the KIAA1217-RET-fusion gene is a promising target for lung cancer treatment. (PMID:27150058)
- KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations. (PMID:32369272)
- KIAA1217 Promotes Epithelial-Mesenchymal Transition and Hepatocellular Carcinoma Metastasis by Interacting with and Activating STAT3. (PMID:35008530)
- Genetic polymorphism of KIAA1217 is functionally associated with lumbar disc herniation in the Chinese population. (PMID:38311218)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | si:ch211-207d6.2 | ENSDARG00000031658 |
| mus_musculus | Etl4 | ENSMUSG00000036617 |
| rattus_norvegicus | Etl4 | ENSRNOG00000008666 |
| drosophila_melanogaster | CG32809 | FBGN0023531 |
| caenorhabditis_elegans | WBGENE00022180 |
Paralogs (1): SRCIN1 (ENSG00000277363)
Protein
Protein identifiers
Sickle tail protein homolog — Q5T5P2 (reviewed: Q5T5P2)
All UniProt accessions (7): A0A0U1RQK8, A0A0U1RRK8, A0A1B0GU17, A0A8Q3WMI8, Q5T5P2, Q5T5P0, Q5T5P1
UniProt curated annotations — full annotation on UniProt →
Function. Required for normal development of intervertebral disks.
Subunit / interactions. Interacts with CPNE4 (via VWFA domain).
Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome.
Isoforms (9)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q5T5P2-1 | 1 | yes |
| Q5T5P2-2 | 2 | |
| Q5T5P2-3 | 3 | |
| Q5T5P2-4 | 4 | |
| Q5T5P2-7 | 5 | |
| Q5T5P2-6 | 6 | |
| Q5T5P2-8 | 7 | |
| Q5T5P2-9 | 9 | |
| Q5T5P2-10 | 10 |
RefSeq proteins (7): NP_001091970, NP_001269696, NP_001269697, NP_001269698, NP_001269699, NP_001308610, NP_062536* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR022782 | AIP3-like_C | Domain |
| IPR051825 | SRCIN1 | Family |
Pfam: PF03915
UniProt features (80 total): compositionally biased region 21, modified residue 19, region of interest 11, splice variant 9, sequence conflict 9, coiled-coil region 5, sequence variant 4, chain 1, glycosylation site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5T5P2-F1 | 46.88 | 0.09 |
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 (19): 169, 244, 361, 365, 393, 470, 474, 526, 809, 1027, 1030, 1033, 1044, 1461, 1739, 1841, 1896, 1899, 1902
Glycosylation sites (1): 357
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 190 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_EMBRYONIC_SKELETAL_SYSTEM_DEVELOPMENT, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, GOCC_MICROTUBULE_ORGANIZING_CENTER, KINSEY_TARGETS_OF_EWSR1_FLII_FUSION_DN, GOCC_CENTROSOME, SENESE_HDAC1_TARGETS_UP, GOBP_EMBRYO_DEVELOPMENT, GTATGAT_MIR154_MIR487, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, RIGGI_EWING_SARCOMA_PROGENITOR_UP, TTTGCAC_MIR19A_MIR19B
GO Biological Process (1): embryonic skeletal system development (GO:0048706)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (3): cytoplasm (GO:0005737), centrosome (GO:0005813), cytoskeleton (GO:0005856)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| skeletal system development | 1 |
| chordate embryonic development | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| centriole | 1 |
| microtubule organizing center | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
930 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| KIAA1217 | IDH3A | P50213 | 824 |
| KIAA1217 | ACAN | P16112 | 701 |
| KIAA1217 | IDH2 | P48735 | 649 |
| KIAA1217 | FBLN1 | P23142 | 494 |
| KIAA1217 | GFM1 | Q96RP9 | 491 |
| KIAA1217 | TMEM270 | Q6UE05 | 477 |
| KIAA1217 | RET | P07949 | 467 |
| KIAA1217 | LRPAP1 | P30533 | 445 |
| KIAA1217 | RELCH | Q9P260 | 430 |
| KIAA1217 | FBLN2 | P98095 | 429 |
| KIAA1217 | ADAMTS3 | O15072 | 423 |
| KIAA1217 | TTLL4 | Q14679 | 422 |
| KIAA1217 | FBXO38 | Q6PIJ6 | 420 |
| KIAA1217 | PLXDC2 | Q6UX71 | 409 |
| KIAA1217 | RET | P07949 | 400 |
IntAct
26 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TBK1 | TBKBP1 | psi-mi:“MI:0914”(association) | 0.860 |
| YWHAH | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.570 |
| TRIB2 | POTEF | psi-mi:“MI:0914”(association) | 0.530 |
| LRRK1 | KIAA1217 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| KIAA1217 | ABI2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SORBS3 | KIAA1217 | psi-mi:“MI:0915”(physical association) | 0.370 |
| NCK2 | KIAA1217 | psi-mi:“MI:0915”(physical association) | 0.370 |
| KIAA1217 | EXOSC5 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TEX11 | KIAA1217 | psi-mi:“MI:0915”(physical association) | 0.370 |
| KIAA1217 | GCC1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| KRT15 | KIAA1217 | psi-mi:“MI:0915”(physical association) | 0.370 |
| FXR2 | KIAA1217 | psi-mi:“MI:0915”(physical association) | 0.370 |
| KIAA1217 | FHL2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SEC16A | NCOR2 | psi-mi:“MI:0914”(association) | 0.350 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| NEK4 | E2F8 | psi-mi:“MI:0914”(association) | 0.350 |
| SYNGAP1 | POM121C | psi-mi:“MI:0914”(association) | 0.350 |
| MAPRE1 | SCAMP1 | psi-mi:“MI:0914”(association) | 0.350 |
| ATG16L1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| CNTROB | CNOT1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| NINL | CCDC66 | psi-mi:“MI:2364”(proximity) | 0.270 |
| CDH1 | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| HOOK2 | SEC16A | psi-mi:“MI:2364”(proximity) | 0.270 |
| CDH5 | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| CDH5 | MYO1C | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (118): KIAA1217 (Two-hybrid), KIAA1217 (Two-hybrid), KIAA1217 (Two-hybrid), KIAA1217 (Two-hybrid), KIAA1217 (Two-hybrid), KIAA1217 (Two-hybrid), KIAA1217 (Two-hybrid), KIAA1217 (Two-hybrid), KIAA1217 (Affinity Capture-RNA), KIAA1217 (Affinity Capture-MS), KIAA1217 (Two-hybrid), KIAA1217 (Two-hybrid), EXOSC5 (Two-hybrid), KIAA1217 (Two-hybrid), GCC1 (Two-hybrid)
ESM2 similar proteins: A0A0G2JTY4, A0JNC2, A2AQ25, E1BEQ5, O09000, O57539, O70305, O93602, P15336, P16951, P17544, P70365, P97305, Q00969, Q02930, Q12968, Q14157, Q15032, Q15596, Q15788, Q1LY51, Q4PJW2, Q4VCS5, Q5R9C9, Q5SFM8, Q5T5P2, Q5T6F2, Q61026, Q62415, Q6GP15, Q80TM6, Q80X50, Q86YP4, Q8CHY6, Q8IY63, Q8VCB2, Q8VHG2, Q8VHR5, Q8WXI9, Q91VX2
Diamond homologs: A2AQ25, Q5T5P2, Q9C0H9, Q9QWI6, Q9QXY2, Q7PQ25
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 36 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 |
|---|---|---|---|
| Signaling by Rho GTPases | 6 | 8.2× | 7e-03 |
| Signaling by Rho GTPases, Miro GTPases and RHOBTB3 | 6 | 8.0× | 7e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
338 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 276 |
| Likely benign | 28 |
| Benign | 5 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
5352 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:24209259:GCAGG:G | donor_gain | 1.0000 |
| 10:24209262:GG:G | donor_gain | 1.0000 |
| 10:24209262:GGGT:G | donor_loss | 1.0000 |
| 10:24209263:GG:G | donor_gain | 1.0000 |
| 10:24209264:G:GG | donor_gain | 1.0000 |
| 10:24209264:GT:G | donor_loss | 1.0000 |
| 10:24209265:T:G | donor_loss | 1.0000 |
| 10:24219624:A:AG | acceptor_gain | 1.0000 |
| 10:24219625:G:GA | acceptor_gain | 1.0000 |
| 10:24219625:GA:G | acceptor_gain | 1.0000 |
| 10:24219625:GAA:G | acceptor_gain | 1.0000 |
| 10:24219625:GAAC:G | acceptor_gain | 1.0000 |
| 10:24219625:GAACA:G | acceptor_gain | 1.0000 |
| 10:24219852:G:GT | donor_gain | 1.0000 |
| 10:24219907:CAGG:C | donor_loss | 1.0000 |
| 10:24219909:GGTAC:G | donor_loss | 1.0000 |
| 10:24219910:GTACG:G | donor_loss | 1.0000 |
| 10:24219911:T:G | donor_loss | 1.0000 |
| 10:24367628:C:G | donor_gain | 1.0000 |
| 10:24432991:GCA:G | acceptor_loss | 1.0000 |
| 10:24432993:A:AG | acceptor_gain | 1.0000 |
| 10:24432993:A:G | acceptor_loss | 1.0000 |
| 10:24432993:AG:A | acceptor_gain | 1.0000 |
| 10:24432993:AGG:A | acceptor_gain | 1.0000 |
| 10:24432993:AGGG:A | acceptor_gain | 1.0000 |
| 10:24432994:G:GG | acceptor_gain | 1.0000 |
| 10:24432994:GG:G | acceptor_gain | 1.0000 |
| 10:24432994:GGG:G | acceptor_gain | 1.0000 |
| 10:24432994:GGGG:G | acceptor_gain | 1.0000 |
| 10:24432994:GGGGT:G | acceptor_gain | 1.0000 |
AlphaMissense
12832 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:24219832:T:C | F93L | 1.000 |
| 10:24219833:T:C | F93S | 1.000 |
| 10:24219833:T:G | F93C | 1.000 |
| 10:24219834:C:A | F93L | 1.000 |
| 10:24219834:C:G | F93L | 1.000 |
| 10:24219836:T:C | L94P | 1.000 |
| 10:24219845:T:C | L97P | 1.000 |
| 10:24219869:C:A | A105D | 1.000 |
| 10:24219878:T:A | I108N | 1.000 |
| 10:24219878:T:G | I108S | 1.000 |
| 10:24381067:G:T | G185W | 1.000 |
| 10:24433001:T:C | L187P | 1.000 |
| 10:24433007:T:A | L189H | 1.000 |
| 10:24433007:T:C | L189P | 1.000 |
| 10:24433010:A:C | Q190P | 1.000 |
| 10:24433079:T:C | L213P | 1.000 |
| 10:24433082:T:C | F214S | 1.000 |
| 10:24433093:T:C | F218L | 1.000 |
| 10:24433095:T:A | F218L | 1.000 |
| 10:24433095:T:G | F218L | 1.000 |
| 10:24433181:T:C | L247S | 1.000 |
| 10:24438409:T:A | L259H | 1.000 |
| 10:24438409:T:C | L259P | 1.000 |
| 10:24473491:A:C | R370S | 1.000 |
| 10:24473491:A:T | R370S | 1.000 |
| 10:24544297:T:C | L1676P | 1.000 |
| 10:24219825:A:C | R90S | 0.999 |
| 10:24219825:A:T | R90S | 0.999 |
| 10:24219842:A:C | H96P | 0.999 |
| 10:24219845:T:A | L97Q | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000006650 (10:23941368 T>C), RS1000007763 (10:24361165 A>G), RS1000008575 (10:23903870 A>C), RS1000012527 (10:24540514 G>A,T), RS1000014859 (10:23863321 G>T), RS1000015696 (10:24514941 G>A), RS1000017627 (10:24059040 G>A), RS1000026686 (10:24259876 G>C,T), RS1000032319 (10:23895208 C>A,G,T), RS1000032836 (10:24499639 G>A), RS1000035234 (10:23766547 T>C), RS1000043476 (10:24003382 T>C), RS1000044307 (10:24452647 A>C,G), RS1000045563 (10:24438293 A>G,T), RS1000056801 (10:24135994 T>A,G)
Disease associations
OMIM: gene MIM:617367 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| skeletal system disorder | Moderate | Autosomal dominant |
Mondo (1): skeletal system disorder (MONDO:0005172)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
15 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000579_58 | Cognitive performance | 4.000000e-07 |
| GCST001957_8 | Obesity (early onset extreme) | 1.000000e-07 |
| GCST005192_150 | Lobe attachment (rater-scored or self-reported) | 9.000000e-68 |
| GCST005193_1 | Lobe attachment (rater scored) | 2.000000e-08 |
| GCST005196_27 | Coronary artery disease | 7.000000e-08 |
| GCST006035_11 | Breast cancer and/or colorectal cancer | 6.000000e-06 |
| GCST006479_61 | Diverticular disease | 4.000000e-07 |
| GCST007201_39 | Schizophrenia | 5.000000e-06 |
| GCST008179_7 | Moderate-to-late spontaneous preterm birth | 7.000000e-06 |
| GCST008508_5 | Stress sensitivity (neuroticism score x major depressive disorder status interaction) | 4.000000e-06 |
| GCST009615_10 | Triglyceride levels x loop diuretics use interaction | 1.000000e-08 |
| GCST009615_9 | Triglyceride levels x loop diuretics use interaction | 7.000000e-07 |
| GCST011981_9 | Homeostasis model assessment of insulin resistance | 3.000000e-06 |
| GCST012170_11 | Cognitive function in longevity | 8.000000e-06 |
| GCST90014033_95 | Haemorrhoidal disease | 3.000000e-11 |
EFO canonical traits (8, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0003926 | neuropsychological test |
| EFO:0007667 | lobe attachment |
| EFO:0009959 | diverticular disease |
| EFO:0006917 | spontaneous preterm birth |
| EFO:0007660 | neuroticism measurement |
| EFO:0004530 | triglyceride measurement |
| EFO:0004501 | HOMA-IR |
| EFO:0008354 | cognitive function measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
50 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, decreases expression | 3 |
| Valproic Acid | decreases methylation, affects cotreatment, increases expression | 3 |
| Cadmium Chloride | increases abundance, increases palmitoylation, decreases expression, increases expression, decreases reaction | 3 |
| bisphenol A | affects methylation, affects cotreatment, increases expression | 2 |
| mercuric bromide | increases expression, affects cotreatment | 2 |
| Cadmium | decreases reaction, increases abundance, increases palmitoylation, decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Tobacco Smoke Pollution | increases methylation, decreases expression | 2 |
| Aflatoxin B1 | increases methylation, affects methylation | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| dicrotophos | increases expression | 1 |
| pyrogallol 1,3-dimethyl ether | affects localization, increases expression, affects cotreatment | 1 |
| trichostatin A | increases expression | 1 |
| arsenite | affects binding, decreases reaction, increases reaction | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| 2-bromopalmitate | decreases reaction, increases abundance, increases palmitoylation | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| aflatoxin B2 | affects methylation | 1 |
| nickel sulfate | decreases expression | 1 |
| coumarin | decreases phosphorylation | 1 |
| bicalutamide | decreases expression, decreases reaction | 1 |
| 2,3,5-(triglutathion-S-yl)hydroquinone | increases ADP-ribosylation | 1 |
| entinostat | affects cotreatment, increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| 1,8-dinitro-4,5-dihydroxyanthraquinone | affects response to substance | 1 |
| Temozolomide | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: skeletal system disorder
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): hemorrhoid, skeletal system disorder