SCEL
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Also known as FLJ21667MGC22531
Summary
SCEL (sciellin, HGNC:10573) is a protein-coding gene on chromosome 13q22.3, encoding Sciellin (O95171). May function in the assembly or regulation of proteins in the cornified envelope.
The protein encoded by this gene is a precursor to the cornified envelope of terminally differentiated keratinocytes. This protein localizes to the periphery of cells and may function in the assembly or regulation of proteins in the cornified envelope. Transcript variants encoding different isoforms exist. A transcript variant utilizing an alternative polyA signal has been described in the literature, but its full-length nature has not been determined.
Source: NCBI Gene 8796 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 140 total — 1 likely-pathogenic
- MANE Select transcript:
NM_144777
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:10573 |
| Approved symbol | SCEL |
| Name | sciellin |
| Location | 13q22.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ21667, MGC22531 |
| Ensembl gene | ENSG00000136155 |
| Ensembl biotype | protein_coding |
| OMIM | 604112 |
| Entrez | 8796 |
Gene structure
Transcript identifiers
Ensembl transcripts: 111 — 109 protein_coding, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000349847, ENST00000377246, ENST00000469982, ENST00000471491, ENST00000535157, ENST00000856126, ENST00000856127, ENST00000856128, ENST00000856129, ENST00000856130, ENST00000856131, ENST00000856132, ENST00000856133, ENST00000856134, ENST00000856135, ENST00000856136, ENST00000856137, ENST00000856138, ENST00000856139, ENST00000856140, ENST00000856141, ENST00000856142, ENST00000856143, ENST00000856144, ENST00000856145, ENST00000856146, ENST00000856147, ENST00000856148, ENST00000856149, ENST00000856150, ENST00000856151, ENST00000856152, ENST00000856153, ENST00000856154, ENST00000856155, ENST00000856156, ENST00000856157, ENST00000856158, ENST00000856159, ENST00000856160, ENST00000856161, ENST00000856162, ENST00000856163, ENST00000856164, ENST00000856165, ENST00000856166, ENST00000856167, ENST00000856168, ENST00000856169, ENST00000856170, ENST00000856171, ENST00000856172, ENST00000856173, ENST00000856174, ENST00000856175, ENST00000856176, ENST00000856177, ENST00000856178, ENST00000856179, ENST00000856180, ENST00000856181, ENST00000856182, ENST00000856183, ENST00000856184, ENST00000856185, ENST00000856186, ENST00000856187, ENST00000856188, ENST00000856189, ENST00000965413, ENST00000965414, ENST00000965415, ENST00000965416, ENST00000965417, ENST00000965418, ENST00000965419, ENST00000965420, ENST00000965421, ENST00000965422, ENST00000965423, ENST00000965424, ENST00000965425, ENST00000965426, ENST00000965427, ENST00000965428, ENST00000965429, ENST00000965430, ENST00000965431, ENST00000965432, ENST00000965433, ENST00000965434, ENST00000965435, ENST00000965436, ENST00000965437, ENST00000965438, ENST00000965439, ENST00000965440, ENST00000965441, ENST00000965442, ENST00000965443, ENST00000965444, ENST00000965445, ENST00000965446, ENST00000965447, ENST00000965448, ENST00000965449, ENST00000965450, ENST00000965451, ENST00000965452, ENST00000965453, ENST00000965454
RefSeq mRNA: 3 — MANE Select: NM_144777
NM_001160706, NM_003843, NM_144777
CCDS: CCDS53877, CCDS9458, CCDS9459
Canonical transcript exons
ENST00000349847 — 33 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000500842 | 77568295 | 77568333 |
| ENSE00000684634 | 77567680 | 77567748 |
| ENSE00000684637 | 77569371 | 77569451 |
| ENSE00000802625 | 77556596 | 77556713 |
| ENSE00000802626 | 77559804 | 77559863 |
| ENSE00000923756 | 77563831 | 77563899 |
| ENSE00000923757 | 77572124 | 77572189 |
| ENSE00000923758 | 77589144 | 77589224 |
| ENSE00000923759 | 77591395 | 77591460 |
| ENSE00000923761 | 77599329 | 77599388 |
| ENSE00001235005 | 77593514 | 77593573 |
| ENSE00001610270 | 77617803 | 77617862 |
| ENSE00001612041 | 77618004 | 77618060 |
| ENSE00001639532 | 77627947 | 77628009 |
| ENSE00001697658 | 77603076 | 77603135 |
| ENSE00001724733 | 77634379 | 77634450 |
| ENSE00001731512 | 77602654 | 77602713 |
| ENSE00001756550 | 77617599 | 77617658 |
| ENSE00001783485 | 77640676 | 77640784 |
| ENSE00001783944 | 77642706 | 77642808 |
| ENSE00001802637 | 77637120 | 77637194 |
| ENSE00001835447 | 77535706 | 77535824 |
| ENSE00001881989 | 77644258 | 77645263 |
| ENSE00002157127 | 77555857 | 77555918 |
| ENSE00003500096 | 77609058 | 77609117 |
| ENSE00003543621 | 77608056 | 77608115 |
| ENSE00003544100 | 77610047 | 77610106 |
| ENSE00003546334 | 77599689 | 77599748 |
| ENSE00003583696 | 77602065 | 77602124 |
| ENSE00003604499 | 77612891 | 77612941 |
| ENSE00003635974 | 77597545 | 77597589 |
| ENSE00003665732 | 77604356 | 77604415 |
| ENSE00003676309 | 77613893 | 77613955 |
Expression profiles
Bgee: expression breadth ubiquitous, 183 present calls, max score 99.58.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 4.0350 / max 606.2895, expressed in 169 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 135506 | 1.8815 | 144 |
| 135509 | 1.6863 | 133 |
| 135507 | 0.1974 | 69 |
| 135508 | 0.1506 | 59 |
| 135505 | 0.1192 | 44 |
Top tissues by expression
282 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| tongue squamous epithelium | UBERON:0006919 | 99.58 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 99.52 | gold quality |
| upper leg skin | UBERON:0004262 | 99.39 | gold quality |
| oral cavity | UBERON:0000167 | 99.07 | gold quality |
| upper arm skin | UBERON:0004263 | 98.92 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 98.56 | gold quality |
| skin of hip | UBERON:0001554 | 98.08 | gold quality |
| esophagus mucosa | UBERON:0002469 | 97.98 | gold quality |
| skin of abdomen | UBERON:0001416 | 97.94 | gold quality |
| buccal mucosa cell | CL:0002336 | 97.83 | gold quality |
| skin of leg | UBERON:0001511 | 97.73 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 97.57 | gold quality |
| zone of skin | UBERON:0000014 | 97.50 | gold quality |
| amniotic fluid | UBERON:0000173 | 97.49 | gold quality |
| squamous epithelium | UBERON:0006914 | 96.85 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 96.74 | gold quality |
| gingiva | UBERON:0001828 | 96.24 | gold quality |
| penis | UBERON:0000989 | 95.48 | gold quality |
| body of tongue | UBERON:0011876 | 95.29 | gold quality |
| gingival epithelium | UBERON:0001949 | 95.27 | gold quality |
| right lung | UBERON:0002167 | 95.26 | gold quality |
| mammalian vulva | UBERON:0000997 | 95.22 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 95.12 | gold quality |
| cervix epithelium | UBERON:0004801 | 94.26 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 93.22 | gold quality |
| upper lobe of lung | UBERON:0008948 | 92.95 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 90.95 | gold quality |
| tongue | UBERON:0001723 | 88.11 | gold quality |
| lung | UBERON:0002048 | 86.95 | gold quality |
| vagina | UBERON:0000996 | 86.09 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7249 | yes | 690.44 |
| E-GEOD-130148 | yes | 9.58 |
| E-ANND-3 | yes | 9.09 |
| E-CURD-10 | no | 64.17 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
66 targeting SCEL, 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-126-5P | 100.00 | 72.71 | 3180 |
| 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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-3682-5P | 99.93 | 67.97 | 1163 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-380-3P | 99.89 | 70.18 | 1978 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-8062 | 99.88 | 68.43 | 995 |
| HSA-MIR-3919 | 99.87 | 69.45 | 2489 |
| HSA-MIR-5582-3P | 99.86 | 72.48 | 4221 |
| HSA-MIR-202-3P | 99.84 | 71.41 | 1290 |
| HSA-MIR-4495 | 99.82 | 72.08 | 3080 |
| HSA-MIR-3133 | 99.81 | 70.92 | 3506 |
| HSA-MIR-4760-5P | 99.80 | 69.88 | 1619 |
| HSA-MIR-577 | 99.78 | 69.13 | 2479 |
| HSA-MIR-4517 | 99.76 | 69.19 | 1867 |
Literature-anchored findings (GeneRIF, showing 8)
- VDUP1 and sciellin were more highly expressed in keratinocytes undergoing differentiation and colocalization of the proteins could be demonstrated (PMID:14632196)
- Single nucleotide polymorphisms were detected in both matching tumor and normal esophageal tissues but no disease-associated mutations suggesting that SCEL is not a major factor in esophageal squamous cell carcinogenesis. (PMID:15274303)
- Sciellin, SPRR3, and periplakin transcripts were all upregulated (4.67-, 4.95-, 2.77-fold, respectively) by prolonged exposure to cyclic strain (24-72 h), but not at earlier time points. (PMID:19211270)
- These results demonstrate that SCEL is a mesenchymal-to-epithelial transition inducer dynamically regulated through the metastasis process (PMID:27013588)
- Down-regulation of long non-coding RNA HOTAIR promotes angiogenesis via regulating miR-126/SCEL pathways in burn wound healing. (PMID:31974341)
- Clinical significance and diagnostic value of QPCT, SCEL and TNFRSF12A in papillary thyroid cancer. (PMID:37060824)
- CBX8 promotes lung adenocarcinoma growth and metastasis through transcriptional repression of CDKN2C and SCEL. (PMID:37733753)
- Sciellin promotes the development and progression of thyroid cancer through the JAK2/STAT3 signaling pathway. (PMID:38411346)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Scel | ENSMUSG00000022123 |
| rattus_norvegicus | Scel | ENSRNOG00000024237 |
Paralogs (1): ZNF185 (ENSG00000147394)
Protein
Protein identifiers
Sciellin — O95171 (reviewed: O95171)
All UniProt accessions (2): O95171, F2Z2X8
UniProt curated annotations — full annotation on UniProt →
Function. May function in the assembly or regulation of proteins in the cornified envelope. The LIM domain may be involved in homotypic or heterotypic associations and may function to localize sciellin to the cornified envelope.
Subcellular location. Cytoplasm. Membrane.
Tissue specificity. Highly expressed in esophagus. It is also expressed in keratinocytes, amniotic tissue, foreskin stratum spinosum and stratum granulosum, hair follicle and nail.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O95171-1 | 1 | yes |
| O95171-2 | 2 | |
| O95171-3 | 3 |
RefSeq proteins (3): NP_001154178, NP_003834, NP_659001* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001781 | Znf_LIM | Domain |
| IPR052621 | Cell_Prolif/Cornif_Regul | Family |
UniProt features (41 total): repeat 16, sequence conflict 6, region of interest 4, compositionally biased region 4, modified residue 3, splice variant 3, sequence variant 3, chain 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O95171-F1 | 45.48 | 0.02 |
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 (3): 83, 289, 389
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 153 (showing top):
AP1_01, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_REGULATION_OF_WNT_SIGNALING_PATHWAY, ONDER_CDH1_TARGETS_3_DN, GOBP_EPIDERMAL_CELL_DIFFERENTIATION, FONTAINE_PAPILLARY_THYROID_CARCINOMA_UP, GOBP_CANONICAL_WNT_SIGNALING_PATHWAY, TGANTCA_AP1_C, GOBP_EPIDERMIS_DEVELOPMENT, GOBP_RESPONSE_TO_ABIOTIC_STIMULUS, GOBP_POSITIVE_REGULATION_OF_CANONICAL_WNT_SIGNALING_PATHWAY, AIGNER_ZEB1_TARGETS, GOBP_EMBRYO_DEVELOPMENT, AML1_01
GO Biological Process (5): epidermis development (GO:0008544), response to mechanical stimulus (GO:0009612), embryo development ending in birth or egg hatching (GO:0009792), keratinocyte differentiation (GO:0030216), positive regulation of canonical Wnt signaling pathway (GO:0090263)
GO Molecular Function (2): metal ion binding (GO:0046872), protein binding (GO:0005515)
GO Cellular Component (5): cornified envelope (GO:0001533), cytoplasm (GO:0005737), perinuclear region of cytoplasm (GO:0048471), extracellular exosome (GO:0070062), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| tissue development | 1 |
| response to external stimulus | 1 |
| response to abiotic stimulus | 1 |
| embryo development | 1 |
| epidermal cell differentiation | 1 |
| skin development | 1 |
| positive regulation of Wnt signaling pathway | 1 |
| canonical Wnt signaling pathway | 1 |
| regulation of canonical Wnt signaling pathway | 1 |
| cation binding | 1 |
| binding | 1 |
| plasma membrane | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
1332 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SCEL | SULF1 | Q8IWU6 | 752 |
| SCEL | YIPF3 | Q9GZM5 | 711 |
| SCEL | SYNPO | Q8N3V7 | 705 |
| SCEL | CYP26A1 | O43174 | 693 |
| SCEL | ACTN4 | O43707 | 637 |
| SCEL | NPHS1 | O60500 | 598 |
| SCEL | SPRR2A | P35326 | 559 |
| SCEL | POU4F2 | Q12837 | 547 |
| SCEL | LCE3D | Q9BYE3 | 543 |
| SCEL | PODXL | O00592 | 513 |
| SCEL | WT1 | P19544 | 511 |
| SCEL | LHX9 | Q9NQ69 | 503 |
| SCEL | TJP1 | Q07157 | 502 |
| SCEL | PAX2 | Q02962 | 492 |
| SCEL | TGM3 | Q08188 | 487 |
IntAct
55 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FXR2 | SCEL | psi-mi:“MI:0915”(physical association) | 0.670 |
| SCEL | GOLGA2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| SCEL | NMI | psi-mi:“MI:0915”(physical association) | 0.670 |
| SCEL | FXR2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| NMI | SCEL | psi-mi:“MI:0915”(physical association) | 0.670 |
| SCEL | MTUS2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SCEL | KIFC3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SCEL | TSGA10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MTUS2 | SCEL | psi-mi:“MI:0915”(physical association) | 0.560 |
| KIFC3 | SCEL | psi-mi:“MI:0915”(physical association) | 0.560 |
| TBC1D22B | A2ML1 | psi-mi:“MI:0914”(association) | 0.530 |
| FRMD1 | A2ML1 | psi-mi:“MI:0914”(association) | 0.530 |
| SCEL | LRRK2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SCEL | DAPK1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ENG | SCEL | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SCEL | psi-mi:“MI:0407”(direct interaction) | 0.440 |
BioGRID (43): SCEL (Two-hybrid), SCEL (Two-hybrid), NMI (Two-hybrid), FXR2 (Two-hybrid), MTUS2 (Two-hybrid), TSGA10 (Two-hybrid), SCEL (Reconstituted Complex), SCEL (Two-hybrid), NMI (Two-hybrid), SCEL (Two-hybrid), SCEL (Proximity Label-MS), SCEL (Affinity Capture-MS), RAB11B (Affinity Capture-MS), SCEL (Reconstituted Complex), SCEL (Reconstituted Complex)
ESM2 similar proteins: A0JPP4, A1KXM5, A1YGK6, A2T7F2, A4FU69, A6NE01, A6X8Z9, E9Q0C6, E9Q5F9, E9Q7D5, F6XZJ7, O60057, O95171, P88825, Q03661, Q2T9M9, Q2YDJ5, Q32MG2, Q3URU2, Q3V0C1, Q53TS8, Q5BI31, Q5R7U0, Q5SRN2, Q66H38, Q6AXV6, Q6AYN3, Q70KF4, Q710D7, Q80Y39, Q810T2, Q8BUY8, Q8K4E0, Q8N3K9, Q8NEV8, Q8TC56, Q8TCU4, Q95J40, Q95JY5, Q95K27
Diamond homologs: O15231, O95171, Q62394, Q9EQG3, Q3KQW7, Q3UH68, Q9UPQ0, B9G8P1, F4HZF0, O81635, P26932, P37397, P37803, P51911, P52735, Q08091, Q08092, Q08093, Q08094, Q08290, Q15052, Q15417, Q24799, Q2HJ38, Q32L92, Q3SYU6, Q54TK8, Q55E26, Q55GV9, Q5RFN6, Q5XXR3, Q60992, Q7YRL2, Q8K4I3, Q8WWI1, Q99439, Q9DAW9, Q9GK38, Q921G6, Q9Y2L9
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
140 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 100 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 982220 | NM_144777.3(SCEL):c.175G>A (p.Gly59Ser) | Likely pathogenic |
SpliceAI
4486 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 13:77556595:GA:G | acceptor_gain | 1.0000 |
| 13:77556709:GAAAA:G | donor_gain | 1.0000 |
| 13:77556714:G:GG | donor_gain | 1.0000 |
| 13:77559802:A:AG | acceptor_gain | 1.0000 |
| 13:77559803:G:GG | acceptor_gain | 1.0000 |
| 13:77563810:T:TA | acceptor_gain | 1.0000 |
| 13:77563819:T:G | acceptor_gain | 1.0000 |
| 13:77569368:CAGG:C | acceptor_loss | 1.0000 |
| 13:77569369:A:AG | acceptor_gain | 1.0000 |
| 13:77569369:AGGCA:A | acceptor_loss | 1.0000 |
| 13:77569370:G:GG | acceptor_gain | 1.0000 |
| 13:77569447:AAGAG:A | donor_loss | 1.0000 |
| 13:77569448:AGAGG:A | donor_loss | 1.0000 |
| 13:77569449:GAG:G | donor_gain | 1.0000 |
| 13:77569450:AGGTA:A | donor_loss | 1.0000 |
| 13:77569451:GG:G | donor_loss | 1.0000 |
| 13:77569452:GTAG:G | donor_loss | 1.0000 |
| 13:77569453:T:A | donor_loss | 1.0000 |
| 13:77589140:AAAG:A | acceptor_gain | 1.0000 |
| 13:77597541:A:AG | acceptor_gain | 1.0000 |
| 13:77597542:A:G | acceptor_gain | 1.0000 |
| 13:77597543:A:G | acceptor_gain | 1.0000 |
| 13:77597544:G:GA | acceptor_gain | 1.0000 |
| 13:77597544:GT:G | acceptor_gain | 1.0000 |
| 13:77597588:AGGT:A | donor_loss | 1.0000 |
| 13:77597590:GTA:G | donor_loss | 1.0000 |
| 13:77599687:A:AG | acceptor_gain | 1.0000 |
| 13:77599688:G:GG | acceptor_gain | 1.0000 |
| 13:77599688:GA:G | acceptor_gain | 1.0000 |
| 13:77599747:GG:G | donor_gain | 1.0000 |
AlphaMissense
4624 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 13:77640698:T:A | C621S | 0.999 |
| 13:77640698:T:C | C621R | 0.999 |
| 13:77640699:G:C | C621S | 0.999 |
| 13:77640700:C:G | C621W | 0.998 |
| 13:77642706:T:A | C650S | 0.997 |
| 13:77642706:T:C | C650R | 0.997 |
| 13:77642707:G:C | C650S | 0.997 |
| 13:77640699:G:A | C621Y | 0.996 |
| 13:77640707:T:A | C624S | 0.996 |
| 13:77640708:G:C | C624S | 0.996 |
| 13:77640707:T:C | C624R | 0.995 |
| 13:77640776:T:C | C647R | 0.995 |
| 13:77640778:C:G | C647W | 0.995 |
| 13:77640708:G:A | C624Y | 0.994 |
| 13:77640709:C:G | C624W | 0.994 |
| 13:77640780:T:C | F648S | 0.994 |
| 13:77642708:T:G | C650W | 0.994 |
| 13:77642715:T:A | C653S | 0.994 |
| 13:77642716:G:C | C653S | 0.994 |
| 13:77642792:C:G | C678W | 0.994 |
| 13:77640699:G:T | C621F | 0.993 |
| 13:77640766:C:G | C643W | 0.993 |
| 13:77640769:T:A | H644Q | 0.993 |
| 13:77640769:T:G | H644Q | 0.993 |
| 13:77642715:T:C | C653R | 0.993 |
| 13:77642790:T:A | C678S | 0.993 |
| 13:77642790:T:C | C678R | 0.993 |
| 13:77642791:G:C | C678S | 0.993 |
| 13:77572131:T:A | W163R | 0.992 |
| 13:77572131:T:C | W163R | 0.992 |
dbSNP variants (sampled 300 via entrez): RS1000035019 (13:77594938 G>A), RS1000039649 (13:77550776 T>A), RS1000045521 (13:77558129 A>G), RS1000064980 (13:77537038 T>C), RS1000136695 (13:77549362 T>A,C), RS1000145391 (13:77628520 A>G), RS1000147775 (13:77640747 A>G), RS1000225491 (13:77595856 T>C), RS1000227872 (13:77623386 C>T), RS1000243566 (13:77562909 G>A), RS1000321449 (13:77576308 C>G), RS1000336954 (13:77569787 C>A), RS1000339685 (13:77616291 A>G,T), RS1000429972 (13:77602529 A>G,T), RS1000454688 (13:77557059 C>G,T)
Disease associations
OMIM: gene MIM:604112 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (1): Moyamoya angiopathy (Orphanet:477768)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004412_10 | Craniofacial microsomia | 8.000000e-06 |
| GCST007565_111 | Morning person | 4.000000e-19 |
| GCST007576_398 | Chronotype | 4.000000e-19 |
| GCST008477_17 | Emphysema annual change measurement in smokers (adjusted lung density) | 6.000000e-06 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008328 | chronotype measurement |
| EFO:0007626 | emphysema imaging measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
34 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases expression | 3 |
| Particulate Matter | increases expression, decreases expression, increases abundance | 3 |
| Benzo(a)pyrene | decreases expression, decreases methylation, increases methylation | 2 |
| Estradiol | affects cotreatment, decreases expression | 2 |
| Tobacco Smoke Pollution | affects expression, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| urushiol | increases expression | 1 |
| bisphenol A | increases expression | 1 |
| pyrogallol 1,3-dimethyl ether | affects cotreatment, decreases expression, affects localization | 1 |
| ethyl-p-hydroxybenzoate | increases expression | 1 |
| beta-lapachone | increases expression | 1 |
| cylindrospermopsin | 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 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| NSC 689534 | affects binding, increases expression | 1 |
| Zoledronic Acid | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Vehicle Emissions | increases abundance, increases expression | 1 |
| Cadmium | increases expression | 1 |
| Calcitriol | decreases expression | 1 |
| Copper | affects binding, increases expression | 1 |
| Dexamethasone | increases expression | 1 |
| Diuron | decreases expression | 1 |
| Furaldehyde | affects cotreatment, decreases expression, affects localization, increases expression | 1 |
| Phenylmercuric Acetate | increases expression, affects cotreatment | 1 |
| Smoke | decreases expression | 1 |
| Sodium Chloride | decreases expression, affects localization, increases expression, affects cotreatment | 1 |
| Tretinoin | increases expression | 1 |
| Valproic Acid | increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): craniofacial microsomia