EGFL6
gene geneOn this page
Summary
EGFL6 (EGF like domain multiple 6, HGNC:3235) is a protein-coding gene on chromosome Xp22.2, encoding Epidermal growth factor-like protein 6 (Q8IUX8). May bind integrin alpha-8/beta-1 and play a role in hair follicle morphogenesis.
This gene encodes a member of the epidermal growth factor (EGF) repeat superfamily. Members of this superfamily are characterized by the presence of EGF-like repeats and are often involved in the regulation of cell cycle, proliferation, and developmental processes. The gene product contains a signal peptide, suggesting that it is secreted; an EGF repeat region consisting of 4 complete EGF-like repeats and 1 partial EGF-like repeat, 3 of which have a calcium-binding consensus sequence; an arg-gly-asp integrin association motif; and a MAM domain, which is believed to have an adhesive function. This gene is expressed early during development, and its expression has been detected in lung and meningioma tumors.
Source: NCBI Gene 25975 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 124 total
- MANE Select transcript:
NM_015507
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:3235 |
| Approved symbol | EGFL6 |
| Name | EGF like domain multiple 6 |
| Location | Xp22.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000198759 |
| Ensembl biotype | protein_coding |
| OMIM | 300239 |
| Entrez | 25975 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 4 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000361306, ENST00000380602, ENST00000473826, ENST00000857786, ENST00000857787
RefSeq mRNA: 2 — MANE Select: NM_015507
NM_001167890, NM_015507
CCDS: CCDS14155, CCDS55370
Canonical transcript exons
ENST00000361306 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000665365 | 13617730 | 13618053 |
| ENSE00000665368 | 13619163 | 13619243 |
| ENSE00000665380 | 13627011 | 13627276 |
| ENSE00000840427 | 13603317 | 13603436 |
| ENSE00000840428 | 13606379 | 13606513 |
| ENSE00000840429 | 13608324 | 13608446 |
| ENSE00000893581 | 13594836 | 13594928 |
| ENSE00000893582 | 13599975 | 13600094 |
| ENSE00001150966 | 13623824 | 13623925 |
| ENSE00001279931 | 13569601 | 13569935 |
| ENSE00001279946 | 13589556 | 13589668 |
| ENSE00001933605 | 13632985 | 13633575 |
Expression profiles
Bgee: expression breadth ubiquitous, 186 present calls, max score 96.77.
FANTOM5 (CAGE): breadth broad, TPM avg 1.3909 / max 193.5050, expressed in 232 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 195571 | 1.0495 | 214 |
| 195573 | 0.2233 | 59 |
| 195572 | 0.0827 | 28 |
| 195574 | 0.0353 | 16 |
Top tissues by expression
271 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| visceral pleura | UBERON:0002401 | 96.77 | gold quality |
| placenta | UBERON:0001987 | 95.68 | gold quality |
| pleura | UBERON:0000977 | 93.13 | gold quality |
| parietal pleura | UBERON:0002400 | 92.27 | gold quality |
| skin of hip | UBERON:0001554 | 90.72 | gold quality |
| cartilage tissue | UBERON:0002418 | 90.37 | gold quality |
| hair follicle | UBERON:0002073 | 88.88 | gold quality |
| lower lobe of lung | UBERON:0008949 | 88.73 | gold quality |
| lung | UBERON:0002048 | 87.84 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 87.63 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 87.11 | gold quality |
| upper lobe of lung | UBERON:0008948 | 86.60 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 86.11 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 85.63 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 85.52 | gold quality |
| right lung | UBERON:0002167 | 84.58 | gold quality |
| bronchial epithelial cell | CL:0002328 | 84.04 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 80.83 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 79.95 | gold quality |
| squamous epithelium | UBERON:0006914 | 79.34 | gold quality |
| bronchus | UBERON:0002185 | 79.04 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 77.14 | gold quality |
| endothelial cell | CL:0000115 | 75.99 | gold quality |
| adipose tissue | UBERON:0001013 | 75.91 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 75.81 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 75.79 | gold quality |
| connective tissue | UBERON:0002384 | 74.56 | gold quality |
| esophagus mucosa | UBERON:0002469 | 72.79 | gold quality |
| urinary bladder | UBERON:0001255 | 71.88 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 71.31 | silver quality |
Single-cell (SCXA)
Detected in 8 experiment(s), a significant marker in 8.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6701 | yes | 4012.45 |
| E-HCAD-24 | yes | 3244.10 |
| E-HCAD-23 | yes | 3109.89 |
| E-CURD-126 | yes | 1489.16 |
| E-MTAB-8221 | yes | 1068.71 |
| E-MTAB-10662 | yes | 990.37 |
| E-MTAB-10042 | yes | 8.42 |
| E-ANND-3 | yes | 5.69 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
47 targeting EGFL6, 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-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-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-381-3P | 99.93 | 71.87 | 2854 |
| HSA-MIR-300 | 99.92 | 71.76 | 2856 |
| HSA-MIR-6508-5P | 99.92 | 70.67 | 2465 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-374A-5P | 99.90 | 71.34 | 2923 |
| HSA-MIR-374B-5P | 99.90 | 69.98 | 2734 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
| HSA-MIR-8067 | 99.86 | 69.59 | 2260 |
| HSA-MIR-323A-3P | 99.79 | 70.30 | 1739 |
| HSA-MIR-202-5P | 99.78 | 67.65 | 991 |
| HSA-MIR-200A-5P | 99.76 | 69.10 | 949 |
| HSA-MIR-200B-5P | 99.76 | 69.05 | 948 |
| HSA-MIR-587 | 99.64 | 70.86 | 2611 |
| HSA-MIR-888-3P | 99.53 | 69.77 | 1057 |
| HSA-MIR-6833-5P | 99.50 | 68.93 | 1161 |
| HSA-MIR-150-3P | 99.43 | 70.51 | 920 |
Literature-anchored findings (GeneRIF, showing 17)
- There is an absence of GNAS and EGFL6 mutations in common human cancers. (PMID:18038328)
- results indicate that human EGFL6 is a paracrine/autocrine growth factor of adipose tissue up-regulated in obesity and potentially involved in the process of adipose tissue expansion and the development of obesity (PMID:20574786)
- EGFL6 was overexpressed in benign meningioma tissues and serum. (PMID:23285163)
- EGFL6 is an angiocrine and tumor cell factor that promotes tumorigenesis via SHP2-mediated signaling. EGFL6 stimulates ALDH+ ovarian cancer stem cell to migrate and undergo asymmetric division. (PMID:27803106)
- In conclusion, our results suggest that plasma level of EGFL6 may be useful to assess disease progression, and especially advanced T status and higher TNM stage in patients with oral squamous cell carcinoma. (PMID:28539817)
- High EGFL6 expression may serve as a marker for poor prognosis of lung adenocarcinoma, especially in younger patients. (PMID:29934389)
- It is an oncogene in CRC oncogenesis and development. (PMID:30395690)
- In summary, we provided evidence that EGFL6 was highly expressed in nasopharyngeal carcinoma (NPC), and was associated with migration and growth of NPC cells. (PMID:30444069)
- EGFL6 promotes breast cancer by simultaneously enhancing cancer cell metastasis and stimulating tumor angiogenesis (PMID:30455428)
- Results showed that EGFL6 may play an important role in the adenomacarcinoma process, and high expression predicted poor survival in colorectal cancer (CRC) patients. These findings provide evidence for EGFL6 is a novel inducer of proliferation in CRC, partially through the activation of beta-catenin via the WNT pathway. As a secreted protein, EGFL6 induces its function via secreted proteins targeting CRC cells. (PMID:30693973)
- Thalidomide targets EGFL6 to inhibit EGFL6/PAX6 axis-driven angiogenesis in small bowel vascular malformation. (PMID:32008086)
- Upregulation of miR126 inhibits podocyte injury in sepsis via EGFL6/DKC1 signaling pathway. (PMID:33760211)
- Epidermal growth factor-like domain protein 6 recombinant protein facilitates osteogenic differentiation in adipose stem cells via bone morphogenetic protein 2/recombinant mothers against decapentaplegic homolog 4 signaling pathway. (PMID:35220882)
- Transcriptome Analyses of Adipose Tissue Samples Identify EGFL6 as a Candidate Gene Involved in Obesity-Related Adipose Tissue Dysfunction in Children. (PMID:35457174)
- EGFL6 promotes endometrial cancer cell migration and proliferation. (PMID:38368816)
- Cytoplasmic Expression of the EGFL6 Protein Is an Independent Prognostic Factor for Shortened Patient Survival in Human Hepatocellular Carcinoma. (PMID:39187367)
- Egfl6 promotes ovarian cancer progression by enhancing the immunosuppressive functions of tumor-associated myeloid cells. (PMID:39312740)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | egfl6 | ENSDARG00000045958 |
| mus_musculus | Egfl6 | ENSMUSG00000000402 |
| rattus_norvegicus | Egfl6 | ENSRNOG00000004275 |
Paralogs (1): NPNT (ENSG00000168743)
Protein
Protein identifiers
Epidermal growth factor-like protein 6 — Q8IUX8 (reviewed: Q8IUX8)
Alternative names: MAM and EGF domains-containing gene protein
All UniProt accessions (1): Q8IUX8
UniProt curated annotations — full annotation on UniProt →
Function. May bind integrin alpha-8/beta-1 and play a role in hair follicle morphogenesis. Promotes matrix assembly.
Subcellular location. Secreted. Extracellular space. Extracellular matrix. Basement membrane.
Similarity. Belongs to the nephronectin family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8IUX8-1 | 1 | yes |
| Q8IUX8-2 | 2 |
RefSeq proteins (2): NP_001161362, NP_056322* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000152 | EGF-type_Asp/Asn_hydroxyl_site | PTM |
| IPR000742 | EGF | Domain |
| IPR000998 | MAM_dom | Domain |
| IPR001881 | EGF-like_Ca-bd_dom | Domain |
| IPR009030 | Growth_fac_rcpt_cys_sf | Homologous_superfamily |
| IPR013320 | ConA-like_dom_sf | Homologous_superfamily |
| IPR018097 | EGF_Ca-bd_CS | Conserved_site |
| IPR049883 | NOTCH1_EGF-like | Domain |
| IPR052235 | Nephronectin_domain | Family |
Pfam: PF00629, PF07645
UniProt features (33 total): disulfide bond 8, sequence conflict 7, domain 6, sequence variant 4, compositionally biased region 2, signal peptide 1, chain 1, glycosylation site 1, splice variant 1, region of interest 1, coiled-coil region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8IUX8-F1 | 65.96 | 0.06 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Disulfide bonds (8): 98–109, 105–118, 120–132, 178–191, 185–200, 223–236, 230–245, 247–258
Glycosylation sites (1): 397
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 141 (showing top):
RNGTGGGC_UNKNOWN, MULLIGHAN_NPM1_SIGNATURE_3_UP, BENPORATH_ES_WITH_H3K27ME3, BOYLAN_MULTIPLE_MYELOMA_PCA1_DN, GOBP_POSITIVE_REGULATION_OF_CELL_ADHESION, MARTORIATI_MDM4_TARGETS_NEUROEPITHELIUM_DN, IRF7_01, LU_TUMOR_VASCULATURE_UP, GNF2_KISS1, IRF_Q6, GOBP_REGULATION_OF_CELL_SUBSTRATE_ADHESION, SMID_BREAST_CANCER_RELAPSE_IN_BRAIN_UP, GNF2_CDKN1C, GOCC_BASEMENT_MEMBRANE, VANTVEER_BREAST_CANCER_ESR1_DN
GO Biological Process (4): cell adhesion (GO:0007155), positive regulation of cell-substrate adhesion (GO:0010811), cell differentiation (GO:0030154), extracellular matrix organization (GO:0030198)
GO Molecular Function (3): integrin binding (GO:0005178), calcium ion binding (GO:0005509), protein binding (GO:0005515)
GO Cellular Component (5): basement membrane (GO:0005604), obsolete extracellular space (GO:0005615), membrane (GO:0016020), extracellular region (GO:0005576), extracellular matrix (GO:0031012)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| cellular process | 1 |
| regulation of cell-substrate adhesion | 1 |
| cell-substrate adhesion | 1 |
| positive regulation of cell adhesion | 1 |
| cellular developmental process | 1 |
| extracellular structure organization | 1 |
| external encapsulating structure organization | 1 |
| signaling receptor binding | 1 |
| protein-containing complex binding | 1 |
| cell adhesion molecule binding | 1 |
| metal ion binding | 1 |
| binding | 1 |
| extracellular matrix | 1 |
| external encapsulating structure | 1 |
Protein interactions and networks
STRING
1372 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| EGFL6 | TCEANC | Q8N8B7 | 561 |
| EGFL6 | ITGA8 | P53708 | 536 |
| EGFL6 | GEMIN8 | Q9NWZ8 | 493 |
| EGFL6 | MEGF9 | Q9H1U4 | 449 |
| EGFL6 | CTPS2 | Q9NRF8 | 418 |
| EGFL6 | EIF2S3 | P41091 | 398 |
| EGFL6 | ANKS3 | Q6ZW76 | 397 |
| EGFL6 | ARHGAP28 | Q9P2N2 | 396 |
| EGFL6 | AREG | P15514 | 394 |
| EGFL6 | WDR24 | Q96S15 | 392 |
| EGFL6 | INSYN2B | A6NMK8 | 388 |
| EGFL6 | EHD4 | Q9H223 | 384 |
| EGFL6 | RHBDL3 | P58872 | 377 |
| EGFL6 | RHBDL1 | O75783 | 371 |
| EGFL6 | LRRC34 | Q8IZ02 | 370 |
IntAct
10 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| EGFL6 | UBQLN2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SH3GL2 | EGFL6 | psi-mi:“MI:0915”(physical association) | 0.550 |
| EGFL6 | H1-1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| EGFL6 | H2BC9 | psi-mi:“MI:0915”(physical association) | 0.400 |
| EGFL6 | CCDC85C | psi-mi:“MI:0914”(association) | 0.350 |
| EGFL6 | UBQLN2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| EGFL6 | SH3GL3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| EGFL6 | SH3GL2 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (32): CCDC85C (Affinity Capture-MS), ZZEF1 (Affinity Capture-MS), ALG13 (Affinity Capture-MS), SORL1 (Affinity Capture-MS), HECTD3 (Affinity Capture-MS), HDGF (Affinity Capture-MS), LRP2 (Affinity Capture-MS), FAM8A1 (Affinity Capture-MS), SYVN1 (Affinity Capture-MS), IDE (Affinity Capture-MS), LRP1B (Affinity Capture-MS), LDLR (Affinity Capture-MS), HSPA5 (Affinity Capture-MS), SH3GL2 (Two-hybrid), SH3GL3 (Two-hybrid)
ESM2 similar proteins: A7MBS7, D3YXF5, F1LW30, O89103, P10643, P11680, P27918, P35446, P82987, P90884, Q29RQ1, Q2I0M5, Q2MKA7, Q3UPR9, Q3UTY6, Q4R7Z5, Q5M7L6, Q5RAD0, Q5RBP1, Q5RBP8, Q5UE90, Q64181, Q66PY1, Q69ZU6, Q6NZL8, Q6P4U0, Q6UXX9, Q6ZMP0, Q7T3Q2, Q7TSK7, Q80YN4, Q86TH1, Q8BFU0, Q8BJ73, Q8BLI0, Q8IUX8, Q8IWY4, Q8IX30, Q8N6G6, Q8VCC9
Diamond homologs: A0A096LNW5, A2RUV0, B4DH59, G3I6Z6, O35474, O35516, O75095, O89019, P07207, P0DPK3, P0DPK4, P13508, P20749, P21783, P31695, P46530, P46531, P82279, Q01705, Q04721, Q07008, Q20911, Q499M5, Q502K3, Q5RBP1, Q61982, Q6UXI9, Q6UY11, Q7Z3S9, Q810B6, Q8AVH7, Q8IUX8, Q91V88, Q99466, Q9FY48, Q9JJZ5, Q9P2R3, Q9QW30, Q9QXT5, Q9R172
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
124 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 66 |
| Likely benign | 7 |
| Benign | 6 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1559 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:13603422:G:GT | donor_gain | 1.0000 |
| X:13603449:G:GT | donor_gain | 1.0000 |
| X:13606370:A:AG | acceptor_gain | 1.0000 |
| X:13606371:C:G | acceptor_gain | 1.0000 |
| X:13606372:A:AG | acceptor_gain | 1.0000 |
| X:13606373:C:G | acceptor_gain | 1.0000 |
| X:13606374:CCTA:C | acceptor_loss | 1.0000 |
| X:13606376:TAG:T | acceptor_loss | 1.0000 |
| X:13606377:A:AC | acceptor_loss | 1.0000 |
| X:13606377:A:AG | acceptor_gain | 1.0000 |
| X:13606378:G:GT | acceptor_gain | 1.0000 |
| X:13606378:GA:G | acceptor_gain | 1.0000 |
| X:13606378:GAT:G | acceptor_gain | 1.0000 |
| X:13606378:GATA:G | acceptor_gain | 1.0000 |
| X:13606378:GATAT:G | acceptor_gain | 1.0000 |
| X:13606509:TATAG:T | donor_gain | 1.0000 |
| X:13606510:ATAG:A | donor_gain | 1.0000 |
| X:13606511:TAGG:T | donor_loss | 1.0000 |
| X:13606513:GGT:G | donor_loss | 1.0000 |
| X:13606514:G:GG | donor_gain | 1.0000 |
| X:13606514:GTAA:G | donor_loss | 1.0000 |
| X:13606515:T:G | donor_loss | 1.0000 |
| X:13617729:GCT:G | acceptor_gain | 1.0000 |
| X:13618049:GTTTT:G | donor_gain | 1.0000 |
| X:13618052:TT:T | donor_gain | 1.0000 |
| X:13618054:G:GG | donor_gain | 1.0000 |
| X:13619161:A:AG | acceptor_gain | 1.0000 |
| X:13619161:A:G | acceptor_loss | 1.0000 |
| X:13619162:G:GA | acceptor_gain | 1.0000 |
| X:13619240:AAAGG:A | donor_loss | 1.0000 |
AlphaMissense
3675 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| X:13623903:G:C | W421C | 0.996 |
| X:13623903:G:T | W421C | 0.996 |
| X:13623901:T:A | W421R | 0.995 |
| X:13623901:T:C | W421R | 0.995 |
| X:13589640:G:C | W53C | 0.993 |
| X:13589640:G:T | W53C | 0.993 |
| X:13623873:G:C | W411C | 0.992 |
| X:13623873:G:T | W411C | 0.992 |
| X:13606462:T:A | C202S | 0.991 |
| X:13606463:G:C | C202S | 0.991 |
| X:13606509:T:G | C217W | 0.991 |
| X:13608440:T:A | C258S | 0.991 |
| X:13608441:G:C | C258S | 0.991 |
| X:13608407:T:A | C247S | 0.990 |
| X:13608408:G:C | C247S | 0.990 |
| X:13606462:T:C | C202R | 0.989 |
| X:13606507:T:C | C217R | 0.989 |
| X:13606507:T:A | C217S | 0.988 |
| X:13606508:G:C | C217S | 0.988 |
| X:13623871:T:A | W411R | 0.988 |
| X:13623871:T:C | W411R | 0.988 |
| X:13606429:T:A | C191S | 0.987 |
| X:13606430:G:C | C191S | 0.987 |
| X:13606464:T:G | C202W | 0.987 |
| X:13606508:G:A | C217Y | 0.987 |
| X:13608401:T:A | C245S | 0.987 |
| X:13608402:G:C | C245S | 0.987 |
| X:13606390:T:A | C178S | 0.986 |
| X:13606391:G:C | C178S | 0.986 |
| X:13627228:G:C | W501C | 0.986 |
dbSNP variants (sampled 300 via entrez): RS1000184540 (X:13608822 G>T), RS1000274746 (X:13619670 C>T), RS1000323401 (X:13595843 C>T), RS1000351034 (X:13585009 C>T), RS1000400473 (X:13611735 T>A), RS1000431932 (X:13584586 G>A), RS1000463514 (X:13593849 G>T), RS1000584045 (X:13572175 G>C), RS1000613061 (X:13596264 C>A,T), RS1000626633 (X:13603051 G>A), RS1000691938 (X:13600882 C>T), RS1000701075 (X:13630052 T>A), RS1000749627 (X:13595876 T>C), RS1000801954 (X:13595530 G>A), RS1000814203 (X:13630570 G>A)
Disease associations
OMIM: gene MIM:300239 | disease phenotypes: MIM:258040
GenCC curated gene-disease
Mondo (1): exstrophy-epispadias complex (MONDO:0017919)
Orphanet (2): Exstrophy-epispadias complex (Orphanet:322), Cloacal exstrophy (Orphanet:93929)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001860_15 | Multiple sclerosis | 4.000000e-06 |
| GCST008388_3 | Acute post-radiotherapy pain in breast cancer | 8.000000e-06 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
33 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases methylation, increases expression | 3 |
| Vorinostat | affects cotreatment, increases expression | 2 |
| Rotenone | increases expression | 2 |
| Tobacco Smoke Pollution | decreases expression | 2 |
| Aflatoxin B1 | decreases methylation, increases methylation | 2 |
| bisphenol A | affects cotreatment, decreases methylation | 1 |
| trichostatin A | increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects cotreatment, increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| bis-N,N-dimethylamino-2-(N-methylpyrrolyl)methyl cyclopentadienyl titanium (IV) | increases expression | 1 |
| Zoledronic Acid | decreases expression | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Amiodarone | increases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Cadmium | decreases expression | 1 |
| Cisplatin | decreases response to substance | 1 |
| Cytarabine | decreases expression | 1 |
| Doxorubicin | decreases response to substance | 1 |
| Indomethacin | increases expression | 1 |
| Lipopolysaccharides | affects cotreatment, increases expression | 1 |
| Methotrexate | decreases response to substance | 1 |
| Plant Extracts | increases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Tetrachlorodibenzodioxin | affects expression | 1 |
| Vincristine | decreases response to substance | 1 |
| Cyclosporine | increases expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_SL49 | HAP1 EGFL6 (-) 1 | Cancer cell line | Male |
| CVCL_SL50 | HAP1 EGFL6 (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
2 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT04760028 | PHASE4 | COMPLETED | Study on the Influencing Factors of Electroencephalogram Parameters Under Anesthesia |
| NCT06106425 | Not specified | UNKNOWN | Diagnostic and Prognostic Criteria of EEG in Neonatal Convulsions at Assiut University Children Hospital |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): exstrophy-epispadias complex