HOXB8
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Summary
HOXB8 (homeobox B8, HGNC:5119) is a protein-coding gene on chromosome 17q21.32, encoding Homeobox protein Hox-B8 (P17481). 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 is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development. Increased expression of this gene is associated with colorectal cancer. Mice that have had the murine ortholog of this gene knocked out exhibit an excessive pathologic grooming behavior. This behavior is similar to the behavior of humans suffering from the obsessive-compulsive spectrum disorder trichotillomania.
Source: NCBI Gene 3218 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 27 total
- MANE Select transcript:
NM_024016
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:5119 |
| Approved symbol | HOXB8 |
| Name | homeobox B8 |
| Location | 17q21.32 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000120068 |
| Ensembl biotype | protein_coding |
| OMIM | 142963 |
| Entrez | 3218 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 5 protein_coding
ENST00000239144, ENST00000498634, ENST00000576562, ENST00000884865, ENST00000884866
RefSeq mRNA: 1 — MANE Select: NM_024016
NM_024016
CCDS: CCDS11533
Canonical transcript exons
ENST00000239144 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000812642 | 48614281 | 48615292 |
| ENSE00001313788 | 48612346 | 48613509 |
Expression profiles
Bgee: expression breadth ubiquitous, 121 present calls, max score 88.56.
FANTOM5 (CAGE): breadth broad, TPM avg 3.5066 / max 195.4430, expressed in 650 samples.
FANTOM5 promoters (11 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 166717 | 1.1269 | 408 |
| 166724 | 0.6494 | 152 |
| 166727 | 0.3965 | 135 |
| 166719 | 0.3738 | 239 |
| 166723 | 0.3306 | 145 |
| 166722 | 0.1865 | 65 |
| 166726 | 0.1837 | 74 |
| 166721 | 0.1003 | 28 |
| 166720 | 0.0672 | 26 |
| 166718 | 0.0479 | 25 |
Top tissues by expression
237 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| corpus epididymis | UBERON:0004359 | 88.56 | gold quality |
| metanephros cortex | UBERON:0010533 | 88.14 | gold quality |
| seminal vesicle | UBERON:0000998 | 88.02 | gold quality |
| kidney epithelium | UBERON:0004819 | 85.48 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 84.44 | gold quality |
| spinal cord | UBERON:0002240 | 83.23 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 82.83 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 80.20 | gold quality |
| ileal mucosa | UBERON:0000331 | 78.10 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 77.11 | gold quality |
| metanephros | UBERON:0000081 | 75.81 | gold quality |
| right adrenal gland | UBERON:0001233 | 75.48 | gold quality |
| caput epididymis | UBERON:0004358 | 75.07 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 74.35 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 73.98 | gold quality |
| oviduct epithelium | UBERON:0004804 | 73.63 | gold quality |
| left adrenal gland | UBERON:0001234 | 73.59 | gold quality |
| omental fat pad | UBERON:0010414 | 73.33 | gold quality |
| cortex of kidney | UBERON:0001225 | 73.31 | gold quality |
| peritoneum | UBERON:0002358 | 73.24 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 73.16 | gold quality |
| kidney | UBERON:0002113 | 72.29 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 72.04 | gold quality |
| transverse colon | UBERON:0001157 | 71.50 | gold quality |
| adrenal cortex | UBERON:0001235 | 71.48 | gold quality |
| colonic epithelium | UBERON:0000397 | 70.93 | gold quality |
| small intestine | UBERON:0002108 | 69.11 | gold quality |
| adrenal gland | UBERON:0002369 | 69.11 | gold quality |
| endometrium | UBERON:0001295 | 67.68 | gold quality |
| cauda epididymis | UBERON:0004360 | 67.56 | silver quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-56 | yes | 1029.31 |
| E-ANND-3 | no | 2.30 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
4 targets.
| Target | Regulation |
|---|---|
| ACTA2 | Repression |
| EIF3K | |
| MYLK | Repression |
| TAGLN | Repression |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA1502.1 | HOXB8 | HOX |
| MA1502.2 | HOXB8 | HOX |
JASPAR matrix evidence (PMIDs): PMID:18585359
Upstream regulators (CollecTRI, top): ARID4B, HOXC10, HOXC9
miRNA regulators (miRDB)
67 targeting HOXB8, 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-4425 | 100.00 | 67.59 | 1049 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-499A-5P | 99.98 | 70.79 | 1323 |
| 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-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-6835-3P | 99.93 | 70.49 | 2904 |
| HSA-MIR-589-3P | 99.91 | 69.62 | 2088 |
| HSA-MIR-3529-3P | 99.90 | 73.55 | 3045 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6715A-3P | 99.83 | 68.05 | 1473 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
| HSA-MIR-6515-3P | 99.82 | 68.19 | 1933 |
| HSA-MIR-34B-5P | 99.78 | 67.56 | 1175 |
| HSA-MIR-449C-5P | 99.78 | 67.63 | 1168 |
Literature-anchored findings (GeneRIF, showing 14)
- HOXB5 and HOXB8 are frequently expressed in ovarian serous carcinoma, with anatomic site-related differences for cytoplasmic staining. HOXB8 expression is associated with shorter survival in metastatic serous carcinoma. (PMID:23438671)
- HOXB8 and KLK11 may be classified as valuable biomarkers, as they can predict the effects of FOLFOX4 chemotherapy in primary advanced colorectal cancer patients (PMID:23647300)
- Results show that FMRP regulates miR196a-mediated repression of HOXB8 via interaction with the AGO2 MID domain. (PMID:24727796)
- Knockdown of ZEB2 can inhibit HOXB8-induced migration and invasion capacity, as well as the epithelial-mesenchymal transformation in gastric cancer cells. The results showed that HOXB8 plays an important role in the development and metastasis of gastric carcinoma (PMID:27761656)
- miR-32-5p significantly downregulated in cervical cancer (CCa) tissues and cells. Bioinformatics and Luciferase method screened HOXB8 as a downstream regulatory target of miR-32-5p. Besides, HOXB8 was incredibly highly expressed in CCa tissues and cells. Decreased expression of HOXB8 resulting from upregulation of miR-32-5p could weaken cell proliferation, clone formation, invasion and migration ability of HeLa cells. (PMID:30657550)
- HOXB8 knockdown inhibited cell proliferation. The invasiveness of HCT116 cells was significantly reduced following HOXB8 depletion compared with that in the shRNA control group, whereby the rates were reduced by 67% in HOXB8 knockdown group. (PMID:30677006)
- knockdown of HOXB8 could suppress tumorigenesis and metastasis in OS through regulation of the Wnt/beta-catenin signaling pathway (PMID:30954562)
- Knockdown of HOXB8 abolished the effects of miR-128 inhibitor on ovarian cancer cell proliferation and paclitaxel sensitivity. Summarily, miR-128 displayed a tumour suppressor role in ovarian cancer via targeting HOXB8. (PMID:31271703)
- Oncogenic HOXB8 is driven by MYC-regulated super-enhancer and potentiates colorectal cancer invasiveness via BACH1. (PMID:31591481)
- Homeobox B8 Targets Sterile Alpha Motif Domain-Containing Protein 9 and Drives Glioma Progression. (PMID:31646435)
- SNHG3/miR-2682-5p/HOXB8 promotes cell proliferation and migration in oral squamous cell carcinoma. (PMID:32989886)
- LINC01116 boosts the progression of pituitary adenoma via regulating miR-744-5p/HOXB8 pathway. (PMID:34098015)
- Pharmacological Inhibition of Core Regulatory Circuitry Liquid-liquid Phase Separation Suppresses Metastasis and Chemoresistance in Osteosarcoma. (PMID:34432948)
- HOXB8 Counteracts MAPK/ERK Oncogenic Signaling in a Chicken Embryo Model of Neoplasia. (PMID:34445617)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | hoxb8b | ENSDARG00000054025 |
| danio_rerio | hoxb8a | ENSDARG00000056027 |
| mus_musculus | Hoxb8 | ENSMUSG00000056648 |
| rattus_norvegicus | Hoxb8 | ENSRNOG00000007585 |
Paralogs (42): HOXA11 (ENSG00000005073), HOXC8 (ENSG00000037965), HOXA1 (ENSG00000105991), HOXA2 (ENSG00000105996), HOXA3 (ENSG00000105997), HOXA5 (ENSG00000106004), HOXA6 (ENSG00000106006), HOXA13 (ENSG00000106031), TLX1 (ENSG00000107807), HOXB6 (ENSG00000108511), TLX2 (ENSG00000115297), 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), HOXD8 (ENSG00000175879), GSX2 (ENSG00000180613), HOXC9 (ENSG00000180806), HOXC10 (ENSG00000180818), HOXB4 (ENSG00000182742), HOXA4 (ENSG00000197576), HOXC6 (ENSG00000197757), HOXC4 (ENSG00000198353)
Protein
Protein identifiers
Homeobox protein Hox-B8 — P17481 (reviewed: P17481)
Alternative names: Homeobox protein Hox-2.4, Homeobox protein Hox-2D
All UniProt accessions (3): P17481, I3L383, I3L3R1
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.
Subunit / interactions. Forms a DNA-binding heterodimer with transcription factor PBX1.
Subcellular location. Nucleus.
Similarity. Belongs to the Antp homeobox family.
RefSeq proteins (1): NP_076921* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000047 | HTH_motif | Conserved_site |
| 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 (4 total): chain 1, DNA-binding region 1, region of interest 1, short sequence motif 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P17481-F1 | 65.31 | 0.27 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 199 (showing top):
GOBP_MYELOID_CELL_DIFFERENTIATION, GOBP_SPINAL_CORD_DEVELOPMENT, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, YAATNRNNNYNATT_UNKNOWN, BENPORATH_ES_WITH_H3K27ME3, HNF3ALPHA_Q6, GOBP_BEHAVIOR, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_EMBRYONIC_SKELETAL_SYSTEM_DEVELOPMENT, CMYB_01, GOBP_ADULT_BEHAVIOR, SP3_Q3, GOBP_EMBRYONIC_SKELETAL_SYSTEM_MORPHOGENESIS, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_UP
GO Biological Process (11): regulation of transcription by RNA polymerase II (GO:0006357), grooming behavior (GO:0007625), adult locomotory behavior (GO:0008344), anterior/posterior pattern specification (GO:0009952), sensory perception of pain (GO:0019233), dorsal spinal cord development (GO:0021516), negative regulation of myeloid cell differentiation (GO:0045638), embryonic skeletal system morphogenesis (GO:0048704), negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of DNA-templated transcription (GO:0006355), skeletal system morphogenesis (GO:0048705)
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 repressor activity, RNA polymerase II-specific (GO:0001227), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), sequence-specific DNA binding (GO:0043565)
GO Cellular Component (3): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of DNA-templated transcription | 2 |
| transcription by RNA polymerase II | 2 |
| regulation of transcription by RNA polymerase II | 2 |
| transcription cis-regulatory region binding | 2 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| cellular anatomical structure | 2 |
| behavior | 1 |
| locomotory behavior | 1 |
| adult behavior | 1 |
| regionalization | 1 |
| sensory perception | 1 |
| spinal cord development | 1 |
| anatomical structure development | 1 |
| myeloid cell differentiation | 1 |
| negative regulation of cell differentiation | 1 |
| regulation of myeloid cell differentiation | 1 |
| embryonic organ morphogenesis | 1 |
| skeletal system morphogenesis | 1 |
| embryonic skeletal system development | 1 |
| negative regulation of DNA-templated transcription | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| skeletal system development | 1 |
| animal organ morphogenesis | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| negative regulation of transcription by RNA polymerase II | 1 |
| DNA-binding transcription factor activity, RNA polymerase II-specific | 1 |
| DNA-binding transcription repressor activity | 1 |
| double-stranded DNA binding | 1 |
| sequence-specific DNA binding | 1 |
| nucleic acid binding | 1 |
| transcription regulator activity | 1 |
| DNA binding | 1 |
| chromosome | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
Protein interactions and networks
STRING
1000 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| HOXB8 | DLGAP3 | O95886 | 801 |
| HOXB8 | PBX1 | P40424 | 780 |
| HOXB8 | MEIS1 | O00470 | 603 |
| HOXB8 | IRX2 | Q9BZI1 | 576 |
| HOXB8 | SLITRK5 | O94991 | 573 |
| HOXB8 | MEIS2 | O14770 | 552 |
| HOXB8 | DICER1 | Q9UPY3 | 533 |
| HOXB8 | SHH | Q15465 | 516 |
| HOXB8 | GATA4 | P43694 | 442 |
| HOXB8 | ISL1 | P20663 | 435 |
| HOXB8 | PRSS58 | Q8IYP2 | 420 |
| HOXB8 | BNC2 | Q6ZN30 | 410 |
| HOXB8 | HOXC9 | P31274 | 389 |
| HOXB8 | PAX1 | P15863 | 387 |
| HOXB8 | CDH7 | Q9ULB5 | 386 |
IntAct
3 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FAM110D | NDUFA2 | psi-mi:“MI:0914”(association) | 0.350 |
| HOXB8 | IMPDH1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (18): PBX3 (Reconstituted Complex), PBX1 (Reconstituted Complex), BACH1 (Co-localization), BACH1 (Affinity Capture-Western), HOXB8 (Affinity Capture-Western), FBXO7 (Affinity Capture-MS), KCTD9 (Affinity Capture-MS), MMADHC (Affinity Capture-MS), ANKHD1-EIF4EBP3 (Affinity Capture-MS), TBC1D23 (Affinity Capture-MS), HOXB8 (Affinity Capture-MS), PSMF1 (Affinity Capture-MS), IMPDH1 (Affinity Capture-MS), GKN2 (Affinity Capture-MS), LONP1 (Affinity Capture-MS)
ESM2 similar proteins: A0A1W2PPK0, A0A1W2PPM1, A1YFT7, A2D5V0, A2T7D1, A7Y7W3, A9L937, B0VXK3, F1Q4R9, G3X9P6, G3X9U1, O43364, P09025, P09092, P09632, P17278, P17481, P24342, P28358, P28359, P31245, P31246, P31263, P31273, Q0VCS4, Q1ECY2, Q1KKS8, Q1KKT2, Q1KKV1, Q1KKV4, Q1KKZ4, Q1KKZ6, Q3LTE0, Q3UT54, Q4JM65, Q4KL20, Q5TM83, Q5TM84, Q68EH7, Q6JIY4
Diamond homologs: A1YFA5, A1YFD8, A1YGK7, A2D5K9, A2D5Y4, A2T7F3, B0W1V2, O42504, P02830, P02832, P02833, P04476, P09013, P09014, P09016, P09017, P09019, P09020, P09021, P09023, P09024, P09025, P09067, P09071, P09074, P09077, P09079, P09080, P09092, P09629, P09630, P09632, P09634, P09636, P09637, P10284, P10629, P14838, P14839, P14840
SIGNOR signaling
5 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| HOXB8 | “up-regulates activity” | PBX3 | binding |
| HOXB8 | “up-regulates activity” | PBX1 | binding |
| HOXB8 | “down-regulates quantity by repression” | MYLK | “transcriptional regulation” |
| HOXB8 | “down-regulates quantity by repression” | ACTA2 | “transcriptional regulation” |
| HOXB8 | “down-regulates quantity by repression” | TAGLN | “transcriptional regulation” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
27 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 26 |
| Likely benign | 0 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
245 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:48614276:CTCA:C | donor_loss | 1.0000 |
| 17:48614277:TCAC:T | donor_loss | 1.0000 |
| 17:48614278:CA:C | donor_loss | 1.0000 |
| 17:48614279:A:AG | donor_loss | 1.0000 |
| 17:48614280:C:CA | donor_loss | 1.0000 |
| 17:48613507:CTG:C | acceptor_gain | 0.9900 |
| 17:48613510:C:CC | acceptor_gain | 0.9900 |
| 17:48613516:A:AC | acceptor_gain | 0.9900 |
| 17:48614279:A:AC | donor_gain | 0.9900 |
| 17:48614280:C:CC | donor_gain | 0.9900 |
| 17:48614280:CCTTG:C | donor_gain | 0.9900 |
| 17:48613504:CGG:C | acceptor_gain | 0.9800 |
| 17:48613505:GGCTG:G | acceptor_gain | 0.9800 |
| 17:48613508:TG:T | acceptor_gain | 0.9800 |
| 17:48614275:GCTCA:G | donor_loss | 0.9800 |
| 17:48613505:GGC:G | acceptor_loss | 0.9700 |
| 17:48613506:GC:G | acceptor_loss | 0.9700 |
| 17:48613507:C:A | acceptor_loss | 0.9700 |
| 17:48613508:T:G | acceptor_loss | 0.9700 |
| 17:48613503:GCGG:G | acceptor_gain | 0.9600 |
| 17:48613504:CGGC:C | acceptor_gain | 0.9600 |
| 17:48613506:GCTGC:G | acceptor_gain | 0.9600 |
| 17:48613507:CTGCT:C | acceptor_gain | 0.9600 |
| 17:48613516:A:C | acceptor_gain | 0.9600 |
| 17:48613502:GGCGG:G | acceptor_gain | 0.9500 |
| 17:48613506:GCTG:G | acceptor_loss | 0.9500 |
| 17:48613507:CTGC:C | acceptor_loss | 0.9500 |
| 17:48613509:GC:G | acceptor_loss | 0.9500 |
| 17:48613510:C:A | acceptor_loss | 0.9500 |
| 17:48613511:T:C | acceptor_loss | 0.9500 |
AlphaMissense
1581 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:48613325:T:A | K203N | 1.000 |
| 17:48613325:T:G | K203N | 1.000 |
| 17:48613326:T:A | K203I | 1.000 |
| 17:48613327:T:C | K203E | 1.000 |
| 17:48613328:T:A | K202N | 1.000 |
| 17:48613328:T:G | K202N | 1.000 |
| 17:48613329:T:A | K202I | 1.000 |
| 17:48613330:T:C | K202E | 1.000 |
| 17:48613333:A:G | W201R | 1.000 |
| 17:48613333:A:T | W201R | 1.000 |
| 17:48613334:C:A | K200N | 1.000 |
| 17:48613334:C:G | K200N | 1.000 |
| 17:48613335:T:A | K200M | 1.000 |
| 17:48613336:T:C | K200E | 1.000 |
| 17:48613337:C:A | M199I | 1.000 |
| 17:48613337:C:G | M199I | 1.000 |
| 17:48613337:C:T | M199I | 1.000 |
| 17:48613338:A:C | M199R | 1.000 |
| 17:48613338:A:G | M199T | 1.000 |
| 17:48613338:A:T | M199K | 1.000 |
| 17:48613340:C:A | R198S | 1.000 |
| 17:48613340:C:G | R198S | 1.000 |
| 17:48613341:C:A | R198M | 1.000 |
| 17:48613341:C:G | R198T | 1.000 |
| 17:48613342:T:A | R198W | 1.000 |
| 17:48613342:T:C | R198G | 1.000 |
| 17:48613344:C:A | R197L | 1.000 |
| 17:48613344:C:G | R197P | 1.000 |
| 17:48613345:G:A | R197W | 1.000 |
| 17:48613345:G:C | R197G | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000072656 (17:48612023 T>C), RS1001957463 (17:48612851 A>G), RS1002748353 (17:48613657 G>GA), RS1002823054 (17:48614866 AAAAGAAAAG>A), RS1003942953 (17:48612616 G>C), RS1004033774 (17:48615603 C>T), RS1005715081 (17:48614177 G>C,T), RS1006154204 (17:48617250 C>A,T), RS1006230167 (17:48615894 T>G), RS1006929076 (17:48613902 T>A), RS1007657344 (17:48616906 T>A), RS1008017618 (17:48614986 G>A,C), RS1008293966 (17:48614056 G>T), RS1008320816 (17:48613745 C>G,T), RS1009073900 (17:48615245 G>A,T)
Disease associations
OMIM: gene MIM:142963 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
20 total (human), top 20 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, decreases methylation, increases expression | 2 |
| Tretinoin | increases expression | 2 |
| 3,19-(2-bromobenzylidene)andrographolide | decreases response to substance, increases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| arsenite | increases methylation | 1 |
| ferrous chloride | decreases expression | 1 |
| abrine | decreases expression | 1 |
| (+)-JQ1 compound | increases expression | 1 |
| EPZ004777 | decreases 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 |
| Arbutin | decreases expression | 1 |
| Cytarabine | decreases expression | 1 |
| Methotrexate | decreases expression | 1 |
| Triclosan | increases expression | 1 |
| Tunicamycin | decreases expression | 1 |
| Valproic Acid | affects expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Asbestos, Crocidolite | decreases methylation | 1 |
| Asbestos, Amosite | decreases methylation | 1 |
| Okadaic Acid | increases 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.