HOXD8
gene geneOn this page
Summary
HOXD8 (homeobox D8, HGNC:5139) is a protein-coding gene on chromosome 2q31.1, encoding Homeobox protein Hox-D8 (P13378). Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.
This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5’ end of this cluster have been associated with severe limb and genital abnormalities. In addition to effects during embryogenesis, this particular gene may also play a role in adult urogenital tract function. Alternate splicing results in multiple transcript variants.
Source: NCBI Gene 3234 — RefSeq curated summary.
At a glance
- GWAS associations: 9
- Clinical variants (ClinVar): 70 total
- MANE Select transcript:
NM_019558
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:5139 |
| Approved symbol | HOXD8 |
| Name | homeobox D8 |
| Location | 2q31.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000175879 |
| Ensembl biotype | protein_coding |
| OMIM | 142985 |
| Entrez | 3234 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 4 protein_coding
ENST00000313173, ENST00000429017, ENST00000450510, ENST00000544999
RefSeq mRNA: 3 — MANE Select: NM_019558
NM_001199746, NM_001199747, NM_019558
CCDS: CCDS2268, CCDS56148, CCDS56149
Canonical transcript exons
ENST00000313173 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001270639 | 176131317 | 176132695 |
| ENSE00001270651 | 176129705 | 176130943 |
Expression profiles
Bgee: expression breadth ubiquitous, 175 present calls, max score 96.52.
FANTOM5 (CAGE): breadth broad, TPM avg 2.8038 / max 63.8744, expressed in 680 samples.
FANTOM5 promoters (9 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 23848 | 2.0610 | 622 |
| 23849 | 0.3550 | 178 |
| 23852 | 0.1732 | 93 |
| 23850 | 0.0688 | 17 |
| 202482 | 0.0600 | 17 |
| 23851 | 0.0590 | 15 |
| 23846 | 0.0132 | 3 |
| 23847 | 0.0077 | 2 |
| 23845 | 0.0060 | 2 |
Top tissues by expression
255 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| germinal epithelium of ovary | UBERON:0001304 | 96.52 | gold quality |
| calcaneal tendon | UBERON:0003701 | 94.48 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 94.16 | gold quality |
| kidney | UBERON:0002113 | 92.91 | gold quality |
| metanephros cortex | UBERON:0010533 | 92.78 | gold quality |
| corpus epididymis | UBERON:0004359 | 91.59 | gold quality |
| renal medulla | UBERON:0000362 | 91.44 | gold quality |
| kidney epithelium | UBERON:0004819 | 91.02 | gold quality |
| cortex of kidney | UBERON:0001225 | 90.38 | gold quality |
| deltoid | UBERON:0001476 | 89.61 | gold quality |
| metanephros | UBERON:0000081 | 89.15 | gold quality |
| secondary oocyte | CL:0000655 | 88.79 | gold quality |
| tendon | UBERON:0000043 | 88.70 | gold quality |
| body of uterus | UBERON:0009853 | 87.99 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 87.87 | gold quality |
| oviduct epithelium | UBERON:0004804 | 87.72 | gold quality |
| left ovary | UBERON:0002119 | 87.40 | gold quality |
| ovary | UBERON:0000992 | 87.27 | gold quality |
| right ovary | UBERON:0002118 | 87.19 | gold quality |
| adrenal tissue | UBERON:0018303 | 86.25 | gold quality |
| caput epididymis | UBERON:0004358 | 84.74 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 84.70 | gold quality |
| left adrenal gland | UBERON:0001234 | 84.68 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 84.63 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 84.33 | gold quality |
| right testis | UBERON:0004534 | 84.27 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 84.22 | gold quality |
| right adrenal gland | UBERON:0001233 | 84.22 | gold quality |
| fallopian tube | UBERON:0003889 | 84.21 | gold quality |
| adrenal gland | UBERON:0002369 | 83.84 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-10 | yes | 20.41 |
| E-ANND-3 | yes | 7.85 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
5 targets.
| Target | Regulation |
|---|---|
| ANGPT2 | Activation |
| CDKN2A | |
| KDM1A | |
| PROX1 | Activation |
| TTF1 |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA0910.2 | HOXD8 | HOX |
| MA0910.3 | HOXD8 | HOX |
JASPAR matrix evidence (PMIDs): PMID:18585359
Upstream regulators (CollecTRI, top): PROX1
miRNA regulators (miRDB)
73 targeting HOXD8, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-6835-3P | 99.93 | 70.49 | 2904 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
| HSA-MIR-302A-3P | 99.89 | 71.23 | 1777 |
| HSA-MIR-302B-3P | 99.89 | 71.23 | 1777 |
| HSA-MIR-302C-3P | 99.89 | 71.20 | 1778 |
| HSA-MIR-302D-3P | 99.89 | 71.25 | 1777 |
| HSA-MIR-548D-3P | 99.87 | 70.67 | 4362 |
| HSA-MIR-548BB-3P | 99.86 | 70.58 | 4354 |
| HSA-MIR-369-3P | 99.85 | 70.52 | 2264 |
| HSA-MIR-548AC | 99.84 | 70.77 | 4351 |
| HSA-MIR-548H-3P | 99.84 | 70.80 | 4349 |
| HSA-MIR-548Z | 99.84 | 70.80 | 4349 |
| HSA-MIR-576-5P | 99.84 | 70.46 | 2582 |
| HSA-MIR-373-3P | 99.84 | 70.68 | 1668 |
| HSA-MIR-520E-3P | 99.84 | 70.55 | 1698 |
Literature-anchored findings (GeneRIF, showing 10)
- Prox1 and HoxD8 play important roles in the maturation and maintenance of lymphatic vessels. (PMID:19825936)
- microRNA-520a-3p inhibits proliferation and cancer stem cell phenotype by targeting HOXD8 in non small cell lung cancer cells and restoration of microRNA-520a-3p might be a therapeutic strategy to reverse gefitinib resistance. (PMID:27748920)
- HOXD8 exerts a tumor-suppressing role in colorectal cancer as an apoptotic inducer (PMID:28457970)
- Taken together, these results suggest that HOXD8 is potentially associated with both cisplatin resistance and metastasis in advanced ovarian cancer. (PMID:30194340)
- Two transcription factors, HOXD8 and Lhx3, predicted to regulate the expression of lncRNAs, were also selected. Using RNA interference technology, HOXD8 and Lhx3 were found to positively regulate DIAPH2-AS1 and RP11-445K13.2 in HTR-8/SVneo cells (PMID:30626726)
- verified that HOXD8 was a target of miR-5692a via online prediction database and dual luciferase reporter assay (PMID:30941968)
- LINC01106 post-transcriptionally regulates ELK3 and HOXD8 to promote bladder cancer progression. (PMID:33311496)
- HOXD8 inhibits the proliferation and migration of triple-negative breast cancer cells and induces apoptosis in them through regulation of AKT/mTOR pathway. (PMID:34454307)
- HOXD8 hypermethylation as a fully sensitive and specific biomarker for biliary tract cancer detectable in tissue and bile samples. (PMID:35177798)
- CircTMEM59 Serves as miR-410-3p Sponge to Inhibit the Proliferation and Metastasis of Colorectal Cancer by Regulating HOXD8. (PMID:35426617)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Hoxd8 | ENSMUSG00000027102 |
| rattus_norvegicus | Hoxd8 | ENSRNOG00000071108 |
Paralogs (42): HOXA11 (ENSG00000005073), HOXC8 (ENSG00000037965), HOXA1 (ENSG00000105991), HOXA2 (ENSG00000105996), HOXA3 (ENSG00000105997), HOXA5 (ENSG00000106004), HOXA6 (ENSG00000106006), HOXA13 (ENSG00000106031), TLX1 (ENSG00000107807), HOXB6 (ENSG00000108511), TLX2 (ENSG00000115297), HOXB8 (ENSG00000120068), HOXB5 (ENSG00000120075), HOXB3 (ENSG00000120093), HOXB1 (ENSG00000120094), HOXA7 (ENSG00000122592), HOXC13 (ENSG00000123364), HOXC11 (ENSG00000123388), HOXC12 (ENSG00000123407), HOXD1 (ENSG00000128645), HOXD3 (ENSG00000128652), HOXD9 (ENSG00000128709), HOXD10 (ENSG00000128710), HOXD11 (ENSG00000128713), HOXD13 (ENSG00000128714), PDX1 (ENSG00000139515), HOXB13 (ENSG00000159184), TLX3 (ENSG00000164438), HOXD4 (ENSG00000170166), HOXD12 (ENSG00000170178), HOXB9 (ENSG00000170689), HOXC5 (ENSG00000172789), HOXB2 (ENSG00000173917), GSX2 (ENSG00000180613), HOXC9 (ENSG00000180806), HOXC10 (ENSG00000180818), HOXB4 (ENSG00000182742), HOXA4 (ENSG00000197576), HOXC6 (ENSG00000197757), HOXC4 (ENSG00000198353)
Protein
Protein identifiers
Homeobox protein Hox-D8 — P13378 (reviewed: P13378)
Alternative names: Homeobox protein Hox-4E, Homeobox protein Hox-5.4
All UniProt accessions (3): A0A0A0MSX5, A0A0A0MTF4, P13378
UniProt curated annotations — full annotation on UniProt →
Function. Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.
Subcellular location. Nucleus.
Similarity. Belongs to the Antp homeobox family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P13378-1 | 1 | yes |
| P13378-2 | 2 | |
| P13378-3 | 3 |
RefSeq proteins (3): NP_001186675, NP_001186676, NP_062458* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001356 | HD | Domain |
| IPR001827 | Homeobox_Antennapedia_CS | Conserved_site |
| IPR009057 | Homeodomain-like_sf | Homologous_superfamily |
| IPR017970 | Homeobox_CS | Conserved_site |
| IPR020479 | HD_metazoa | Domain |
| IPR050948 | Antp_homeobox_TF | Family |
Pfam: PF00046
UniProt features (13 total): splice variant 3, region of interest 3, compositionally biased region 3, sequence conflict 2, chain 1, DNA-binding region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P13378-F1 | 63.28 | 0.22 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 144 (showing top):
ATF_B, WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, BENPORATH_ES_WITH_H3K27ME3, GOBP_AXIS_SPECIFICATION, WWTAAGGC_UNKNOWN, TSENG_IRS1_TARGETS_UP, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_EMBRYONIC_AXIS_SPECIFICATION, NKX25_02, TGCACTT_MIR519C_MIR519B_MIR519A, AREB6_01, CREBP1_Q2, NKX61_01, PAX8_B, GOBP_ANIMAL_ORGAN_MORPHOGENESIS
GO Biological Process (7): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of transcription by RNA polymerase II (GO:0006357), anterior/posterior axis specification, embryo (GO:0008595), positive regulation of transcription by RNA polymerase II (GO:0045944), skeletal system morphogenesis (GO:0048705), regulation of DNA-templated transcription (GO:0006355), anterior/posterior pattern specification (GO:0009952)
GO Molecular Function (7): RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), protein binding (GO:0005515)
GO Cellular Component (2): chromatin (GO:0000785), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of transcription by RNA polymerase II | 3 |
| transcription by RNA polymerase II | 3 |
| regulation of DNA-templated transcription | 2 |
| transcription cis-regulatory region binding | 2 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| negative regulation of DNA-templated transcription | 1 |
| embryonic axis specification | 1 |
| tripartite regional subdivision | 1 |
| anterior/posterior axis specification | 1 |
| positive regulation of DNA-templated transcription | 1 |
| skeletal system development | 1 |
| animal organ morphogenesis | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| regionalization | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| DNA-binding transcription factor activity, RNA polymerase II-specific | 1 |
| DNA-binding transcription activator activity | 1 |
| positive regulation of transcription by RNA polymerase II | 1 |
| double-stranded DNA binding | 1 |
| sequence-specific DNA binding | 1 |
| nucleic acid binding | 1 |
| transcription regulator activity | 1 |
| binding | 1 |
| chromosome | 1 |
| cellular anatomical structure | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
816 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| HOXD8 | HOXB5 | P09067 | 545 |
| HOXD8 | CRIP3 | Q6Q6R5 | 538 |
| HOXD8 | HOXA9 | P31269 | 523 |
| HOXD8 | HOXA3 | O43365 | 510 |
| HOXD8 | HOXB4 | P17483 | 489 |
| HOXD8 | SUZ12 | Q15022 | 468 |
| HOXD8 | HOXA6 | P31267 | 452 |
| HOXD8 | HOXC9 | P31274 | 409 |
| HOXD8 | ISL1 | P20663 | 403 |
| HOXD8 | TBX15 | Q96SF7 | 399 |
| HOXD8 | COL2A1 | P02458 | 385 |
| HOXD8 | HOXC4 | P09017 | 383 |
| HOXD8 | EVX2 | Q03828 | 367 |
| HOXD8 | HOXD1 | Q9GZZ0 | 363 |
| HOXD8 | HOXD13 | P35453 | 357 |
IntAct
21 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| HOXD8 | BAIAP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HOXD8 | LDLRAP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NCK2 | HOXD8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| IFNA10 | HOXD8 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ANXA7 | HOXD8 | psi-mi:“MI:0915”(physical association) | 0.370 |
| HOXD8 | CDKN1A | psi-mi:“MI:0915”(physical association) | 0.370 |
| PFDN1 | HOXD8 | psi-mi:“MI:0915”(physical association) | 0.370 |
| HOXD8 | RCC1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| LPXN | psi-mi:“MI:0915”(physical association) | 0.370 | |
| HOXD8 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| HOXD8 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| LDLRAP1 | HOXD8 | psi-mi:“MI:0915”(physical association) | 0.000 |
| BAIAP2 | HOXD8 | psi-mi:“MI:0915”(physical association) | 0.000 |
| NCK2 | HOXD8 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (14): HOXD8 (Two-hybrid), HOXD8 (Two-hybrid), HOXD8 (Two-hybrid), HOXD8 (Reconstituted Complex), HOXD8 (Proximity Label-MS), HOXD8 (Proximity Label-MS), HOXD8 (Proximity Label-MS), HOXD8 (Proximity Label-MS), HOXD8 (Proximity Label-MS), HOXD8 (Two-hybrid), HOXD8 (Two-hybrid), HOXD8 (Two-hybrid), HOXD8 (Two-hybrid), HOXD8 (Two-hybrid)
ESM2 similar proteins: A1YER7, A1YF08, A1YFD8, A1YFY3, A1YG01, A1YG85, A2D4P8, A2D4R4, A2D5I1, A2D649, A2T6H5, A2T6X6, A2T6Z0, A2T748, A2T756, A2T7H5, A2T7J2, P06798, P09016, P09017, P09023, P09024, P10284, P10628, P13378, P14653, P17277, P17483, P17509, P18111, P18864, P23463, P23813, P31259, P31275, P31276, P31277, P31310, P47902, P50207
Diamond homologs: A1YER7, A1YFA5, A1YFD8, A1YFY3, A1YGK7, A2D4P8, A2D5I1, A2D5K9, A2D5Y4, A2T6X6, A2T748, A2T7F3, O42504, O57374, P02830, P02832, P02833, P04476, P09013, P09014, P09016, P09019, P09021, P09023, P09024, P09025, P09067, P09071, P09074, P09077, P09079, P09080, P09092, P09629, P09630, P09632, P09634, P09636, P10284, P10628
SIGNOR signaling
0 interactions.
Disease & clinical
Cancer significance
Clinical variants and AI predictions
ClinVar
70 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 64 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
208 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:176131311:A:AG | acceptor_gain | 0.9800 |
| 2:176131316:GCA:G | acceptor_gain | 0.9700 |
| 2:176131315:A:AG | acceptor_gain | 0.9500 |
| 2:176131316:G:GG | acceptor_gain | 0.9500 |
| 2:176131305:T:A | acceptor_gain | 0.9400 |
| 2:176130869:A:AG | donor_gain | 0.9300 |
| 2:176131316:GC:G | acceptor_gain | 0.9300 |
| 2:176131312:A:G | acceptor_gain | 0.9100 |
| 2:176131312:ATCAG:A | acceptor_loss | 0.9000 |
| 2:176131313:TCAGC:T | acceptor_loss | 0.9000 |
| 2:176131316:GCAG:G | acceptor_loss | 0.9000 |
| 2:176131318:A:AG | acceptor_gain | 0.8700 |
| 2:176131319:G:GG | acceptor_gain | 0.8700 |
| 2:176131316:GCAGC:G | acceptor_gain | 0.8300 |
| 2:176131317:CAGCT:C | acceptor_loss | 0.8300 |
| 2:176131318:AGCTC:A | acceptor_loss | 0.8300 |
| 2:176131319:G:GT | acceptor_loss | 0.8300 |
| 2:176129788:C:A | donor_gain | 0.8200 |
| 2:176131319:GCTC:G | acceptor_gain | 0.8200 |
| 2:176130863:GTG:G | donor_gain | 0.8100 |
| 2:176130939:ACAAG:A | donor_loss | 0.8100 |
| 2:176130940:CAAG:C | donor_loss | 0.8100 |
| 2:176130941:AAGGT:A | donor_loss | 0.8100 |
| 2:176130942:AGGT:A | donor_loss | 0.8100 |
| 2:176130943:GGTT:G | donor_loss | 0.8100 |
| 2:176129787:T:TA | donor_gain | 0.7900 |
| 2:176130862:AGT:A | donor_gain | 0.7900 |
| 2:176131313:T:G | acceptor_gain | 0.7700 |
| 2:176130837:AC:A | donor_gain | 0.7500 |
| 2:176129809:C:T | donor_gain | 0.7400 |
AlphaMissense
1891 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:176130928:T:A | W188R | 1.000 |
| 2:176130928:T:C | W188R | 1.000 |
| 2:176130932:T:C | M189T | 1.000 |
| 2:176131349:T:C | Y204H | 1.000 |
| 2:176131349:T:G | Y204D | 1.000 |
| 2:176131350:A:G | Y204C | 1.000 |
| 2:176131363:A:C | Q208H | 1.000 |
| 2:176131363:A:T | Q208H | 1.000 |
| 2:176131368:T:C | L210P | 1.000 |
| 2:176131374:T:C | L212S | 1.000 |
| 2:176131374:T:G | L212W | 1.000 |
| 2:176131377:A:T | E213V | 1.000 |
| 2:176131378:A:C | E213D | 1.000 |
| 2:176131378:A:T | E213D | 1.000 |
| 2:176131385:T:C | F216L | 1.000 |
| 2:176131386:T:C | F216S | 1.000 |
| 2:176131386:T:G | F216C | 1.000 |
| 2:176131387:T:A | F216L | 1.000 |
| 2:176131387:T:G | F216L | 1.000 |
| 2:176131404:T:C | L222P | 1.000 |
| 2:176131410:G:T | R224M | 1.000 |
| 2:176131420:A:C | R227S | 1.000 |
| 2:176131420:A:T | R227S | 1.000 |
| 2:176131430:T:C | S231P | 1.000 |
| 2:176131446:T:A | L236H | 1.000 |
| 2:176131446:T:C | L236P | 1.000 |
| 2:176131452:A:T | E238V | 1.000 |
| 2:176131459:G:C | Q240H | 1.000 |
| 2:176131459:G:T | Q240H | 1.000 |
| 2:176131463:A:G | K242E | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1001383013 (2:176130269 G>C,T), RS1001595837 (2:176132415 C>A), RS1002199988 (2:176130834 G>A), RS1002420999 (2:176129922 T>A,C), RS1003391653 (2:176132997 C>G,T), RS1003439768 (2:176129530 A>C,G), RS1003494706 (2:176129151 A>C), RS1003607288 (2:176129183 A>G), RS1003829582 (2:176128942 C>T), RS1004662749 (2:176128819 T>A,G), RS1004695280 (2:176129050 G>C,T), RS1004757602 (2:176128579 G>C), RS1004780332 (2:176130497 ACGC>A,ACGCCGC,ACGCCGCCGC), RS1004831110 (2:176130684 G>GGCC), RS1005917749 (2:176128660 C>T)
Disease associations
OMIM: gene MIM:142985 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
9 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004292_43 | Glomerular filtration rate (creatinine) | 5.000000e-10 |
| GCST006661_148 | Male-pattern baldness | 3.000000e-18 |
| GCST007344_32 | Estimated glomerular filtration rate | 1.000000e-09 |
| GCST007876_9 | Estimated glomerular filtration rate | 1.000000e-14 |
| GCST008058_51 | Estimated glomerular filtration rate | 8.000000e-30 |
| GCST008059_136 | Estimated glomerular filtration rate | 6.000000e-30 |
| GCST008062_101 | Blood urea nitrogen levels | 3.000000e-06 |
| GCST008064_27 | Chronic kidney disease | 3.000000e-10 |
| GCST008971_140 | Urate levels | 3.000000e-11 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004531 | urate measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
29 total (human), top 29 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| urushiol | decreases expression | 1 |
| methylselenic acid | increases expression | 1 |
| ascorbate-2-phosphate | increases expression, affects binding, affects cotreatment | 1 |
| terbufos | increases methylation | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| sodium arsenite | affects methylation | 1 |
| aflatoxin B2 | increases methylation | 1 |
| 4-(2-(5,6,7,8-tetrahydro-5,5,8,8-tetramethyl-2-naphthalenyl)-1-propenyl)benzoic acid | increases expression, affects cotreatment | 1 |
| brequinar | decreases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| Chir 99021 | affects binding, affects cotreatment, increases expression | 1 |
| XAV939 | affects binding, affects cotreatment, increases expression | 1 |
| 3-(4-pyridyl)-1H-indole | affects cotreatment, increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Ascorbic Acid | affects binding, affects cotreatment, increases expression | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Fonofos | increases methylation | 1 |
| Hydrocortisone | affects cotreatment, increases expression | 1 |
| Parathion | increases methylation | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Triclosan | increases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Asbestos, Crocidolite | decreases methylation | 1 |
| Asbestos, Amosite | decreases methylation | 1 |
| Antirheumatic Agents | increases 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.