CITED1
gene geneOn this page
Summary
CITED1 (Cbp/p300 interacting transactivator with ED-rich tail 1, HGNC:1986) is a protein-coding gene on chromosome Xq13.1, encoding Cbp/p300-interacting transactivator 1 (Q99966). Transcriptional coactivator of the p300/CBP-mediated transcription complex.
This gene encodes a member of the CREB-binding protein/p300-interacting transactivator with Asp/Glu-rich C-terminal domain (CITED) family of proteins. The encoded protein, also known as melanocyte-specific gene 1, may function as a transcriptional coactivator and may play a role in pigmentation of melanocytes. Alternatively spliced transcript variants have been described.
Source: NCBI Gene 4435 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 27 total
- MANE Select transcript:
NM_001144887
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1986 |
| Approved symbol | CITED1 |
| Name | Cbp/p300 interacting transactivator with ED-rich tail 1 |
| Location | Xq13.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000125931 |
| Ensembl biotype | protein_coding |
| OMIM | 300149 |
| Entrez | 4435 |
Gene structure
Transcript identifiers
Ensembl transcripts: 17 — 17 protein_coding
ENST00000246139, ENST00000373619, ENST00000417400, ENST00000427412, ENST00000429794, ENST00000431381, ENST00000445983, ENST00000450875, ENST00000453707, ENST00000454225, ENST00000651998, ENST00000940527, ENST00000940528, ENST00000940529, ENST00000940530, ENST00000940531, ENST00000940532
RefSeq mRNA: 4 — MANE Select: NM_001144887
NM_001144885, NM_001144886, NM_001144887, NM_004143
CCDS: CCDS14419, CCDS48136
Canonical transcript exons
ENST00000651998 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001660579 | 72305825 | 72305914 |
| ENSE00003841476 | 72301646 | 72302244 |
| ENSE00003889983 | 72302810 | 72302934 |
Expression profiles
Bgee: expression breadth ubiquitous, 133 present calls, max score 98.93.
FANTOM5 (CAGE): breadth broad, TPM avg 8.5537 / max 615.7310, expressed in 525 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 199587 | 5.6767 | 278 |
| 199592 | 1.4539 | 231 |
| 199589 | 0.8573 | 182 |
| 199591 | 0.3299 | 165 |
| 199590 | 0.1577 | 77 |
| 199588 | 0.0782 | 46 |
Top tissues by expression
138 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right testis | UBERON:0004534 | 98.93 | gold quality |
| left testis | UBERON:0004533 | 98.72 | gold quality |
| adenohypophysis | UBERON:0002196 | 98.37 | gold quality |
| pituitary gland | UBERON:0000007 | 98.35 | gold quality |
| testis | UBERON:0000473 | 98.25 | gold quality |
| hypothalamus | UBERON:0001898 | 91.15 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 85.88 | gold quality |
| prefrontal cortex | UBERON:0000451 | 81.58 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 81.35 | gold quality |
| frontal cortex | UBERON:0001870 | 80.22 | gold quality |
| amygdala | UBERON:0001876 | 80.15 | gold quality |
| temporal lobe | UBERON:0001871 | 80.05 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 79.81 | gold quality |
| cerebral cortex | UBERON:0000956 | 79.57 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 79.07 | gold quality |
| brain | UBERON:0000955 | 78.77 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 78.73 | gold quality |
| right frontal lobe | UBERON:0002810 | 78.61 | gold quality |
| embryo | UBERON:0000922 | 78.43 | gold quality |
| ganglionic eminence | UBERON:0004023 | 78.43 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 78.08 | gold quality |
| Ammon’s horn | UBERON:0001954 | 77.22 | gold quality |
| nucleus accumbens | UBERON:0001882 | 75.98 | gold quality |
| primary visual cortex | UBERON:0002436 | 75.68 | gold quality |
| caudate nucleus | UBERON:0001873 | 75.31 | gold quality |
| ventricular zone | UBERON:0003053 | 74.44 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 73.63 | gold quality |
| putamen | UBERON:0001874 | 73.16 | gold quality |
| prostate gland | UBERON:0002367 | 73.11 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 73.07 | gold quality |
Single-cell (SCXA)
Detected in 6 experiment(s), a significant marker in 5.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-124263 | yes | 1037.51 |
| E-GEOD-134144 | yes | 48.41 |
| E-HCAD-10 | yes | 35.13 |
| E-GEOD-135922 | yes | 26.60 |
| E-ANND-3 | yes | 14.12 |
| E-MTAB-6058 | no | 20.51 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): HIF1A, TOX3
Literature-anchored findings (GeneRIF, showing 14)
- CITED1 functions as a cell cycle-dependent transcriptional cofactor whose activity is regulated by phosphorylation (PMID:16864582)
- CITED1 could play a role in Wilms’ tumor initiation and pathogenesis. (PMID:17710162)
- TOX3 induces transcription in neuron depending on the presence of CITED1 or phosphorylated CREB in the transcriptionally active complex. (PMID:21172805)
- epigenetic regulation is involved in the overexpression of CITED1 in papillary thyroid cancer (PMID:21449767)
- CITED1 expression remains active across all disease characteristics of Wilms tumor. It is found in the nucleus & cytosol. It is not found in normal kidney. (PMID:22703800)
- The CITED1 expression is correlated with lymph node metastasis in patients with colorectal cancer. (PMID:23746764)
- Thus deficiency of Cited1 leads to hyper-activation of Wnt signaling and an exaggerated Wnt phenotype including elevated cell death (PMID:23935526)
- Forced nuclear enrichment of CITED1 in a human WT cell line appears to enhance tumorigenicity, whereas ectopic cytosolic expression confers stem-like properties and an embryonic phenotype. (PMID:24481423)
- Regulation of macrophage IFNgamma-stimulated gene expression by the transcriptional coregulator CITED1. (PMID:36594555)
- Role of cited-1 and caspase-6 expression in HELLP syndrome. (PMID:37070911)
- CITED1 as a marker of favourable outcome in anti-endocrine treated, estrogen-receptor positive, lymph-node negative breast cancer. (PMID:37322548)
- Effect of silencing CITED1 gene to regulate PI3K/AKT pathway on the biological function of PTC cells and its mechanism. (PMID:37807325)
- Roles and signaling pathways of CITED1 in tumors: overview and novel insights. (PMID:38190845)
- CITED1 expression in odontogenic cysts. (PMID:38997708)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cited1 | ENSDARG00000077769 |
| mus_musculus | Cited1 | ENSMUSG00000051159 |
| rattus_norvegicus | Cited1 | ENSRNOG00000003189 |
Paralogs (2): CITED2 (ENSG00000164442), CITED4 (ENSG00000179862)
Protein
Protein identifiers
Cbp/p300-interacting transactivator 1 — Q99966 (reviewed: Q99966)
Alternative names: Melanocyte-specific protein 1
All UniProt accessions (6): Q99966, C9J1P6, C9J300, C9J7P8, C9JRD8, H7C2S6
UniProt curated annotations — full annotation on UniProt →
Function. Transcriptional coactivator of the p300/CBP-mediated transcription complex. Enhances SMAD-mediated transcription by strengthening the functional link between the DNA-binding SMAD transcription factors and the p300/CBP transcription coactivator complex. Stimulates estrogen-dependent transactivation activity mediated by estrogen receptors signaling; stabilizes the interaction of estrogen receptor ESR1 and histone acetyltransferase EP300. Positively regulates TGF-beta signaling through its association with the SMAD/p300/CBP-mediated transcriptional coactivator complex. Induces transcription from estrogen-responsive promoters and protection against cell death. Potentiates EGR2-mediated transcriptional activation activity from the ERBB2 promoter. Acts as an inhibitor of osteoblastic mineralization through a cAMP-dependent parathyroid hormone receptor signaling. May play a role in pigmentation of melanocytes. Associates with chromatin to the estrogen-responsive TGF-alpha promoter region in a estrogen-dependent manner.
Subunit / interactions. Interacts (via C-terminus) with CREBBP. Interacts with EGR2. Homodimer. Binds to RBM14. Interacts (via N-terminus) with HSPA8; the interaction suppresses the association of CITED1 with p300/CBP and SMAD-mediated transcription transactivation. Interacts (via C-terminus) with TOX3 (via HGM box); the interaction increases estrogen-response element (ERE)-dependent transcription and protection against cell death. Interacts with ESR1; the interaction occurs in a estrogen-dependent manner. Interacts (unphosphorylated form preferentially and via C-terminus) with EP300.
Subcellular location. Nucleus. Cytoplasm.
Tissue specificity. Expressed only in melanocytes and testis.
Post-translational modifications. Phosphorylated. Phosphorylation changes in a cell cycle-dependent manner and reduces its transcriptional coactivator activity.
Induction. Up-regulated by GPR39 in neuronal cells.
Similarity. Belongs to the CITED family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q99966-1 | 1 | yes |
| Q99966-2 | 2 |
RefSeq proteins (4): NP_001138357, NP_001138358, NP_001138359, NP_004134 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007576 | CITED | Family |
Pfam: PF04487
UniProt features (24 total): mutagenesis site 16, region of interest 3, chain 1, short sequence motif 1, compositionally biased region 1, splice variant 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q99966-F1 | 60.42 | 0.11 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Mutagenesis-validated functional residues (16):
| Position | Phenotype |
|---|---|
| 67 | strongly reduces phosphorylation but does not interfere with its nes-dependent nuclear export; when associated with a-16 |
| 71 | strongly reduces phosphorylation but does not interfere with its nes-dependent nuclear export; when associated with a-16 |
| 91 | does not change subcellular localization; when associated with a-95. |
| 95 | does not change subcellular localization; when associated with a-91. |
| 137 | strongly reduces phosphorylation; when associated with a-16; a-63; a-67 and a-71. |
| 155–156 | does not inhibit interaction with esr1 and er-coactivation activity. |
| 157–158 | inhibits interaction with esr1 and er-coactivation activity. |
| 159–160 | does not inhibit interaction with esr1 and er-coactivation activity. |
| 161–162 | does not inhibit interaction with esr1 and er-coactivation activity. |
| 163–164 | does not inhibit interaction with esr1 and er-coactivation activity. |
| 165 | does not inhibit interaction with esr1 and er-coactivation activity. localizes mainly in the nucleus; when associated wi |
| 166–167 | does not inhibit interaction with esr1 and er-coactivation activity. localizes mainly in the nucleus; when associated wi |
| 176 | does not change subcellular localization; when associated with a-178. |
| 178 | does not change subcellular localization; when associated with a-176. |
| 16 | strongly reduces phosphorylation but does not interfere with its nes-dependent nuclear export; when associated with a-63 |
| 63 | strongly reduces phosphorylation but does not interfere with its nes-dependent nuclear export; when associated with a-16 |
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-8866907 | Activation of the TFAP2 (AP-2) family of transcription factors |
| R-HSA-9018519 | Estrogen-dependent gene expression |
MSigDB gene sets: 261 (showing top):
GOBP_SMAD_PROTEIN_SIGNAL_TRANSDUCTION, GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_PHENOL_CONTAINING_COMPOUND_METABOLIC_PROCESS, GOBP_LABYRINTHINE_LAYER_DEVELOPMENT, BEGUM_TARGETS_OF_PAX3_FOXO1_FUSION_UP, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_NEGATIVE_REGULATION_OF_NEURON_APOPTOTIC_PROCESS, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, BENPORATH_ES_WITH_H3K27ME3, GOBP_PHENOL_CONTAINING_COMPOUND_BIOSYNTHETIC_PROCESS, GOBP_METANEPHROS_DEVELOPMENT, GOBP_RESPONSE_TO_INTERLEUKIN_4, GOBP_RESPONSE_TO_PEPTIDE
GO Biological Process (42): vasculogenesis (GO:0001570), metanephros development (GO:0001656), branching involved in ureteric bud morphogenesis (GO:0001658), placenta development (GO:0001890), regulation of transcription by RNA polymerase II (GO:0006357), nucleocytoplasmic transport (GO:0006913), apoptotic process (GO:0006915), transforming growth factor beta receptor signaling pathway (GO:0007179), brain development (GO:0007420), positive regulation of gene expression (GO:0010628), negative regulation of Wnt signaling pathway (GO:0030178), melanocyte differentiation (GO:0030318), positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511), response to lipopolysaccharide (GO:0032496), response to insulin (GO:0032868), response to cytokine (GO:0034097), response to type II interferon (GO:0034341), melanin biosynthetic process (GO:0042438), regulation of apoptotic process (GO:0042981), pigmentation (GO:0043473), negative regulation of neuron apoptotic process (GO:0043524), response to estrogen (GO:0043627), negative regulation of osteoblast differentiation (GO:0045668), negative regulation of DNA-templated transcription (GO:0045892), positive regulation of DNA-templated transcription (GO:0045893), positive regulation of transcription by RNA polymerase II (GO:0045944), response to cAMP (GO:0051591), mesenchymal to epithelial transition (GO:0060231), SMAD protein signal transduction (GO:0060395), labyrinthine layer development (GO:0060711), response to interleukin-1 (GO:0070555), response to interleukin-2 (GO:0070669), response to interleukin-4 (GO:0070670), response to interleukin-6 (GO:0070741), response to interleukin-9 (GO:0071104), response to interleukin-11 (GO:0071105), response to parathyroid hormone (GO:0071107), response to transforming growth factor beta (GO:0071559), regulation of kidney development (GO:0090183), positive regulation of mesenchymal stem cell proliferation (GO:1902462)
GO Molecular Function (6): chromatin binding (GO:0003682), transcription coactivator activity (GO:0003713), protein homodimerization activity (GO:0042803), LBD domain binding (GO:0050693), co-SMAD binding (GO:0070410), protein binding (GO:0005515)
GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors | 1 |
| ESR-mediated signaling | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| animal organ development | 2 |
| binding | 2 |
| cell differentiation | 1 |
| blood vessel morphogenesis | 1 |
| kidney development | 1 |
| branching morphogenesis of an epithelial tube | 1 |
| ureteric bud morphogenesis | 1 |
| regulation of DNA-templated transcription | 1 |
| transcription by RNA polymerase II | 1 |
| nuclear transport | 1 |
| programmed cell death | 1 |
| apoptotic signaling pathway | 1 |
| execution phase of apoptosis | 1 |
| cellular response to transforming growth factor beta stimulus | 1 |
| transforming growth factor beta receptor superfamily signaling pathway | 1 |
| central nervous system development | 1 |
| head development | 1 |
| gene expression | 1 |
| regulation of gene expression | 1 |
| positive regulation of macromolecule biosynthetic process | 1 |
| negative regulation of signal transduction | 1 |
| Wnt signaling pathway | 1 |
| regulation of Wnt signaling pathway | 1 |
| pigment cell differentiation | 1 |
| transforming growth factor beta receptor signaling pathway | 1 |
| regulation of transforming growth factor beta receptor signaling pathway | 1 |
| positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 1 |
| positive regulation of cellular response to transforming growth factor beta stimulus | 1 |
| response to molecule of bacterial origin | 1 |
| response to lipid | 1 |
| response to oxygen-containing compound | 1 |
| response to peptide hormone | 1 |
| response to peptide | 1 |
| response to cytokine | 1 |
| innate immune response | 1 |
| melanin metabolic process | 1 |
| secondary metabolite biosynthetic process | 1 |
| pigment biosynthetic process | 1 |
| phenol-containing compound biosynthetic process | 1 |
Protein interactions and networks
STRING
908 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CITED1 | SIX2 | Q9NPC8 | 784 |
| CITED1 | EP300 | Q09472 | 690 |
| CITED1 | SMAD4 | Q13485 | 686 |
| CITED1 | TMEM26 | Q6ZUK4 | 658 |
| CITED1 | EYA1 | Q99502 | 634 |
| CITED1 | UCP1 | P25874 | 600 |
| CITED1 | FOXD1 | Q16676 | 591 |
| CITED1 | PAX2 | Q02962 | 590 |
| CITED1 | WNT9B | O14905 | 589 |
| CITED1 | SALL1 | Q9NSC2 | 588 |
| CITED1 | LHX1 | P48742 | 584 |
| CITED1 | CIDEA | O60543 | 557 |
| CITED1 | TBX1 | O43435 | 545 |
| CITED1 | WT1 | P19544 | 538 |
| CITED1 | PRDM16 | Q9HAZ2 | 524 |
IntAct
31 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CASP6 | CITED1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCK | CITED1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CITED1 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| FKBP1A | CITED1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LAMP2 | CITED1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CITED1 | ESR1 | psi-mi:“MI:0915”(physical association) | 0.520 |
| ESR1 | CITED1 | psi-mi:“MI:0915”(physical association) | 0.520 |
| JUN | CITED1 | psi-mi:“MI:0915”(physical association) | 0.520 |
| Twist1 | CITED1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CITED1 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| ATF2 | CITED1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CITED1 | E2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CITED1 | psi-mi:“MI:0914”(association) | 0.350 | |
| CITED1 | psi-mi:“MI:0914”(association) | 0.350 | |
| CITED1 | RAD21 | psi-mi:“MI:0914”(association) | 0.350 |
| CITED1 | AURKA | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (42): CITED1 (Affinity Capture-Western), CTNNB1 (Affinity Capture-Western), EP300 (Affinity Capture-Western), CITED1 (Affinity Capture-Western), SMAD4 (Two-hybrid), TFAP2B (Reconstituted Complex), CITED1 (Affinity Capture-Western), CITED1 (Affinity Capture-Western), CITED1 (Reconstituted Complex), HSPA8 (Affinity Capture-Western), HSPA8 (Phenotypic Suppression), RLIM (Affinity Capture-MS), RAD21 (Affinity Capture-MS), RB1 (Affinity Capture-MS), CCNA2 (Affinity Capture-MS)
ESM2 similar proteins: A0A1B0GUA6, A2BIL8, A4IGV6, A6H5Y1, A8E653, B3DHS1, D6RIA3, E0CYV9, E9Q309, O14513, P05432, P08651, P09414, P09511, P0CAX8, P17923, P21999, Q02780, Q12857, Q1KN21, Q1T763, Q32LN6, Q3URK1, Q3ZBS1, Q5RDK8, Q5U4U4, Q5VT06, Q5ZM13, Q62417, Q68D20, Q6DFB0, Q6NWJ0, Q6P1U0, Q6P9N1, Q6PKN7, Q811V6, Q86YL5, Q8BLN6, Q8N2C7, Q8VEB3
Diamond homologs: A1YFU7, O35740, P97769, Q0VCT9, Q2HJ78, Q5XGW7, Q6NX30, Q96RK1, Q99966, Q99967, Q99MA0, Q9BDI3, Q9I8K7, Q9WUL8
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| NfKb-p65/p50 | up-regulates | CITED1 | binding |
| RELA | up-regulates | CITED1 | binding |
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 | 18 |
| Likely benign | 4 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
730 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:72302241:CATC:C | acceptor_gain | 1.0000 |
| X:72302242:ATC:A | acceptor_gain | 1.0000 |
| X:72302243:TC:T | acceptor_gain | 1.0000 |
| X:72302244:CC:C | acceptor_gain | 1.0000 |
| X:72302245:C:CA | acceptor_loss | 1.0000 |
| X:72302245:C:CC | acceptor_gain | 1.0000 |
| X:72302246:T:A | acceptor_loss | 1.0000 |
| X:72302805:ATTAC:A | donor_loss | 1.0000 |
| X:72302807:TA:T | donor_loss | 1.0000 |
| X:72302808:A:AT | donor_loss | 1.0000 |
| X:72302808:ACCT:A | donor_gain | 1.0000 |
| X:72302809:CCTC:C | donor_gain | 1.0000 |
| X:72302811:T:TA | donor_gain | 1.0000 |
| X:72302930:TTGTG:T | acceptor_gain | 1.0000 |
| X:72302931:TGTG:T | acceptor_gain | 1.0000 |
| X:72302933:TG:T | acceptor_gain | 1.0000 |
| X:72302935:C:CC | acceptor_gain | 1.0000 |
| X:72302135:G:A | donor_gain | 0.9900 |
| X:72302154:C:CT | donor_gain | 0.9900 |
| X:72302155:T:TT | donor_gain | 0.9900 |
| X:72302932:GTG:G | acceptor_gain | 0.9900 |
| X:72302933:TGC:T | acceptor_loss | 0.9900 |
| X:72302934:GC:G | acceptor_loss | 0.9900 |
| X:72302935:CTG:C | acceptor_loss | 0.9900 |
| X:72302941:G:C | acceptor_gain | 0.9900 |
| X:72302941:G:GC | acceptor_gain | 0.9900 |
| X:72305696:A:AC | donor_gain | 0.9900 |
| X:72305697:C:CC | donor_gain | 0.9900 |
| X:72302195:TTC:T | donor_gain | 0.9800 |
| X:72302240:GCATC:G | acceptor_gain | 0.9800 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000067267 (X:72303942 C>A,G), RS1000356406 (X:72304379 G>C), RS1000739321 (X:72308529 A>C), RS1001429042 (X:72305307 G>C), RS1001664209 (X:72306740 A>C), RS1001796187 (X:72306660 A>ACCGCG), RS1002143891 (X:72306233 C>G,T), RS1002746540 (X:72303340 C>T), RS1003129186 (X:72307538 G>A), RS1003523516 (X:72308069 G>A,T), RS1003871549 (X:72303430 C>A,T), RS1004759327 (X:72305742 C>G), RS1005258728 (X:72307287 G>A,T), RS1005917294 (X:72308121 G>T), RS1006005727 (X:72305466 C>T)
Disease associations
OMIM: gene MIM:300149 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006030_19 | Chloride levels | 8.000000e-21 |
| GCST006032_1 | Sodium levels | 6.000000e-35 |
| GCST012466_5 | Autism spectrum disorder | 6.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009282 | sodium measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
27 total (human), top 27 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, increases expression, increases mutagenesis | 3 |
| Valproic Acid | affects expression, decreases expression, increases expression | 3 |
| methylmercuric chloride | decreases expression | 1 |
| propionaldehyde | increases expression | 1 |
| bisphenol A | decreases expression | 1 |
| 2-methyl-4-isothiazolin-3-one | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| abrine | increases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Decitabine | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Dexamethasone | decreases expression | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Dust | increases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Quercetin | decreases expression | 1 |
| Dihydrotestosterone | increases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Tunicamycin | increases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Asbestos, Serpentine | increases expression | 1 |
| Okadaic Acid | increases expression | 1 |
| Copper Sulfate | increases expression | 1 |
| Chlorodiphenyl (54% Chlorine) | increases expression | 1 |
Cellosaurus cell lines
3 cell lines: 3 embryonic stem cell
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A0R7 | SEES3-1V human CITED1, clone1 | Embryonic stem cell | Male |
| CVCL_A0R8 | SEES3-1V human CITED1, clone2 | Embryonic stem cell | Male |
| CVCL_A0R9 | SEES3-1V human CITED1, clone3 | Embryonic stem cell | Male |
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.