CC2D1B
gene geneOn this page
Also known as KIAA1836Freud-2Lgd1
Summary
CC2D1B (coiled-coil and C2 domain containing 1B, HGNC:29386) is a protein-coding gene on chromosome 1p32.3, encoding Coiled-coil and C2 domain-containing protein 1B (Q5T0F9). Transcription factor that binds specifically to the DRE (dual repressor element) and represses HTR1A gene transcription in neuronal cells.
Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within negative regulation of transcription by RNA polymerase II. Located in nucleoplasm.
Source: NCBI Gene 200014 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 209 total
- MANE Select transcript:
NM_001330585
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29386 |
| Approved symbol | CC2D1B |
| Name | coiled-coil and C2 domain containing 1B |
| Location | 1p32.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1836, Freud-2, Lgd1 |
| Ensembl gene | ENSG00000154222 |
| Ensembl biotype | protein_coding |
| Entrez | 200014 |
Gene structure
Transcript identifiers
Ensembl transcripts: 24 — 17 protein_coding, 4 retained_intron, 3 protein_coding_CDS_not_defined
ENST00000284376, ENST00000371586, ENST00000438021, ENST00000450942, ENST00000460261, ENST00000460370, ENST00000470844, ENST00000485966, ENST00000491136, ENST00000492426, ENST00000494789, ENST00000886668, ENST00000886669, ENST00000886670, ENST00000886671, ENST00000886672, ENST00000886673, ENST00000917745, ENST00000917746, ENST00000917747, ENST00000941872, ENST00000941873, ENST00000941874, ENST00000941875
RefSeq mRNA: 2 — MANE Select: NM_001330585
NM_001330585, NM_032449
CCDS: CCDS30714, CCDS81323
Canonical transcript exons
ENST00000284376 — 25 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001455561 | 52366069 | 52366205 |
| ENSE00003485570 | 52359027 | 52359157 |
| ENSE00003487208 | 52360074 | 52360233 |
| ENSE00003497330 | 52355398 | 52355449 |
| ENSE00003499544 | 52358331 | 52358461 |
| ENSE00003532226 | 52360974 | 52361132 |
| ENSE00003534620 | 52355608 | 52355666 |
| ENSE00003544003 | 52357781 | 52357898 |
| ENSE00003550865 | 52358686 | 52358758 |
| ENSE00003566489 | 52360424 | 52360549 |
| ENSE00003591018 | 52355771 | 52355844 |
| ENSE00003598142 | 52354840 | 52354939 |
| ENSE00003598527 | 52356186 | 52356302 |
| ENSE00003601162 | 52357001 | 52357126 |
| ENSE00003608846 | 52356384 | 52356442 |
| ENSE00003613067 | 52359250 | 52359357 |
| ENSE00003640241 | 52361513 | 52361616 |
| ENSE00003642739 | 52359705 | 52359883 |
| ENSE00003650152 | 52357526 | 52357698 |
| ENSE00003655178 | 52359459 | 52359534 |
| ENSE00003663204 | 52354608 | 52354698 |
| ENSE00003667083 | 52364552 | 52364634 |
| ENSE00003669199 | 52362602 | 52362746 |
| ENSE00003675746 | 52353518 | 52353647 |
| ENSE00003906340 | 52350597 | 52353223 |
Expression profiles
Bgee: expression breadth ubiquitous, 226 present calls, max score 95.80.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.4628 / max 133.8733, expressed in 1811 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 12357 | 12.4628 | 1811 |
Top tissues by expression
252 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| adenohypophysis | UBERON:0002196 | 95.80 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 95.22 | gold quality |
| metanephros cortex | UBERON:0010533 | 94.91 | gold quality |
| nerve | UBERON:0001021 | 94.88 | gold quality |
| tibial nerve | UBERON:0001323 | 94.88 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 94.80 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 94.36 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 94.11 | gold quality |
| pituitary gland | UBERON:0000007 | 94.07 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 93.40 | gold quality |
| thyroid gland | UBERON:0002046 | 93.29 | gold quality |
| granulocyte | CL:0000094 | 93.05 | gold quality |
| right ovary | UBERON:0002118 | 92.67 | gold quality |
| left testis | UBERON:0004533 | 92.54 | gold quality |
| left ovary | UBERON:0002119 | 92.41 | gold quality |
| right testis | UBERON:0004534 | 92.38 | gold quality |
| upper lobe of lung | UBERON:0008948 | 92.37 | gold quality |
| spinal cord | UBERON:0002240 | 91.99 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 91.90 | gold quality |
| minor salivary gland | UBERON:0001830 | 91.72 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 91.68 | gold quality |
| adrenal tissue | UBERON:0018303 | 91.68 | gold quality |
| body of uterus | UBERON:0009853 | 91.54 | gold quality |
| right uterine tube | UBERON:0001302 | 91.32 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 91.19 | gold quality |
| body of pancreas | UBERON:0001150 | 90.95 | gold quality |
| spleen | UBERON:0002106 | 90.83 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 90.83 | gold quality |
| right lung | UBERON:0002167 | 90.80 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 90.75 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.04 |
| E-MTAB-6058 | no | 99.05 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
1 targets.
| Target | Regulation |
|---|---|
| HTR1A | Repression |
miRNA regulators (miRDB)
133 targeting CC2D1B, 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-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
| HSA-MIR-454-3P | 99.91 | 74.01 | 1925 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-195-5P | 99.90 | 72.81 | 2805 |
| HSA-MIR-15A-5P | 99.90 | 72.80 | 2787 |
| HSA-MIR-15B-5P | 99.90 | 72.78 | 2798 |
| HSA-MIR-16-5P | 99.90 | 72.80 | 2780 |
Literature-anchored findings (GeneRIF, showing 5)
- Paper describes a function of Cc2d1b/Cc2d1a and their Drosophila homologue l(2)gd in D.melanogaster in Notch trafficking. (PMID:17084358)
- Human Freud-2/CC2D1B binds to the 5-HT1A dual repressor element and represses the human 5-HT1A receptor gene to regulate its expression in non-serotonergic cells and neurons. (PMID:19423080)
- CC2D1B regulates degradation and signaling of EGFR and TLR4. (PMID:27769858)
- CC2D1B is essential for ESCRT-III activity during mitotic reformation of the nuclear envelope. (PMID:30513301)
- Unravelling of Hidden Secrets: The Tumour Suppressor Lethal (2) Giant Discs (Lgd)/CC2D1, Notch Signalling and Cancer. (PMID:33034024)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cc2d1b | ENSDARG00000099445 |
| mus_musculus | Cc2d1b | ENSMUSG00000028582 |
| rattus_norvegicus | Cc2d1b | ENSRNOG00000008634 |
| drosophila_melanogaster | l(2)gd1 | FBGN0261983 |
| caenorhabditis_elegans | ccct-1 | WBGENE00012578 |
Paralogs (1): CC2D1A (ENSG00000132024)
Protein
Protein identifiers
Coiled-coil and C2 domain-containing protein 1B — Q5T0F9 (reviewed: Q5T0F9)
Alternative names: Five prime repressor element under dual repression-binding protein 2
All UniProt accessions (3): Q5T0F9, H0Y517, H7C1U3
UniProt curated annotations — full annotation on UniProt →
Function. Transcription factor that binds specifically to the DRE (dual repressor element) and represses HTR1A gene transcription in neuronal cells.
Subunit / interactions. Interacts with CHMP4B.
Subcellular location. Nucleus.
Tissue specificity. Widely distributed in brain and peripheral tissues.
Similarity. Belongs to the CC2D1 family.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q5T0F9-1 | 1 | yes |
| Q5T0F9-2 | 2 | |
| Q5T0F9-3 | 3 | |
| Q5T0F9-4 | 4 | |
| Q5T0F9-5 | 5 |
RefSeq proteins (2): NP_001317514, NP_115825 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000008 | C2_dom | Domain |
| IPR006608 | CC2D1A/B_DM14 | Domain |
| IPR035892 | C2_domain_sf | Homologous_superfamily |
| IPR037772 | C2_Freud | Domain |
| IPR039725 | CC2D1A/B | Family |
Pfam: PF00168, PF21528
UniProt features (24 total): splice variant 7, region of interest 5, compositionally biased region 4, modified residue 3, coiled-coil region 2, chain 1, domain 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5T0F9-F1 | 71.98 | 0.32 |
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): 209, 593, 596
Function
Pathways and Gene Ontology
Reactome pathways
7 pathways
| ID | Pathway |
|---|---|
| R-HSA-9668328 | Sealing of the nuclear envelope (NE) by ESCRT-III |
| R-HSA-1640170 | Cell Cycle |
| R-HSA-2555396 | Mitotic Metaphase and Anaphase |
| R-HSA-2995410 | Nuclear Envelope (NE) Reassembly |
| R-HSA-68882 | Mitotic Anaphase |
| R-HSA-68886 | M Phase |
| R-HSA-69278 | Cell Cycle, Mitotic |
MSigDB gene sets: 109 (showing top):
TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GTGCCTT_MIR506, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, GOCC_NUCLEAR_ENVELOPE, GINESTIER_BREAST_CANCER_ZNF217_AMPLIFIED_DN, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, GOCC_ORGANELLE_ENVELOPE, GOBP_NEGATIVE_REGULATION_OF_TRANSCRIPTION_BY_RNA_POLYMERASE_II, GOBP_NEGATIVE_REGULATION_OF_NUCLEOBASE_CONTAINING_COMPOUND_METABOLIC_PROCESS, REACTOME_MITOTIC_METAPHASE_AND_ANAPHASE, REACTOME_NUCLEAR_ENVELOPE_NE_REASSEMBLY, REACTOME_M_PHASE, STK33_NOMO_UP, STK33_UP, GSE13522_WT_VS_IFNG_KO_SKING_T_CRUZI_Y_STRAIN_INF_DN
GO Biological Process (2): regulation of transcription by RNA polymerase II (GO:0006357), negative regulation of transcription by RNA polymerase II (GO:0000122)
GO Molecular Function (4): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), protein binding (GO:0005515)
GO Cellular Component (5): nucleus (GO:0005634), nuclear envelope (GO:0005635), nucleoplasm (GO:0005654), cytosol (GO:0005829), endosome membrane (GO:0010008)
Reactome top-level categories
Rollup of top-6 pathways:
| Category | Pathways |
|---|---|
| Nuclear Envelope (NE) Reassembly | 1 |
| M Phase | 1 |
| Mitotic Anaphase | 1 |
| Mitotic Metaphase and Anaphase | 1 |
| Cell Cycle, Mitotic | 1 |
| Cell Cycle | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 3 |
| transcription by RNA polymerase II | 2 |
| regulation of transcription by RNA polymerase II | 2 |
| cellular anatomical structure | 2 |
| regulation of DNA-templated transcription | 1 |
| negative regulation of DNA-templated transcription | 1 |
| cis-regulatory region sequence-specific DNA binding | 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 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nucleus | 1 |
| endomembrane system | 1 |
| organelle envelope | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
| endosome | 1 |
| cytoplasmic vesicle membrane | 1 |
| bounding membrane of organelle | 1 |
Protein interactions and networks
STRING
1247 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CC2D1B | CHMP4C | Q96CF2 | 580 |
| CC2D1B | CHMP4A | Q9BY43 | 571 |
| CC2D1B | GPATCH3 | Q96I76 | 570 |
| CC2D1B | CHMP7 | Q8WUX9 | 475 |
| CC2D1B | PRPF38A | Q8NAV1 | 472 |
| CC2D1B | AMMECR1L | Q6DCA0 | 447 |
| CC2D1B | IST1 | P53990 | 443 |
| CC2D1B | CHMP6 | Q96FZ7 | 440 |
| CC2D1B | PURB | Q96QR8 | 414 |
| CC2D1B | PHGDH | O43175 | 410 |
| CC2D1B | SPINK8 | P0C7L1 | 406 |
| CC2D1B | FCF1 | Q9Y324 | 399 |
| CC2D1B | ZC3H14 | Q6PJT7 | 398 |
| CC2D1B | BCL7C | Q8WUZ0 | 398 |
| CC2D1B | ZKSCAN5 | Q9Y2L8 | 396 |
IntAct
22 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SHKBP1 | CUL3 | psi-mi:“MI:0914”(association) | 0.850 |
| CASP7 | XIAP | psi-mi:“MI:0914”(association) | 0.840 |
| RFX3 | RFX1 | psi-mi:“MI:0914”(association) | 0.730 |
| TRIM27 | KPNA1 | psi-mi:“MI:0914”(association) | 0.640 |
| MDFI | CC2D1B | psi-mi:“MI:0915”(physical association) | 0.560 |
| CC2D1B | MDFI | psi-mi:“MI:0915”(physical association) | 0.560 |
| BMX | ARIH2 | psi-mi:“MI:0914”(association) | 0.530 |
| CC2D1B | H2BC9 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CC2D1B | H2BC21 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CC2D1B | H2BC5 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CC2D1B | H2BC14 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CC2D1B | CKM | psi-mi:“MI:0915”(physical association) | 0.400 |
| CHMP4B | CC2D1B | psi-mi:“MI:0914”(association) | 0.350 |
| SKAP1 | MYO9A | psi-mi:“MI:0914”(association) | 0.350 |
| KCNE3 | PIK3R2 | psi-mi:“MI:0914”(association) | 0.350 |
| CC2D1B | PCDH7 | psi-mi:“MI:0914”(association) | 0.350 |
| BLOC1S5 | SRGAP2 | psi-mi:“MI:0914”(association) | 0.350 |
| CD55 | CCNB1 | psi-mi:“MI:0914”(association) | 0.350 |
| DDX28 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF843 | PMPCA | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (48): CC2D1B (Two-hybrid), DCTN1 (Co-fractionation), CC2D1B (Affinity Capture-MS), CC2D1B (Affinity Capture-MS), CC2D1B (Affinity Capture-MS), CC2D1B (Affinity Capture-MS), CC2D1B (Affinity Capture-MS), CC2D1B (Affinity Capture-MS), CC2D1B (Protein-RNA), CC2D1B (Two-hybrid), CC2D1B (Proximity Label-MS), CC2D1B (Proximity Label-MS), HIST1H2BM (Proximity Label-MS), HIST1H2BH (Proximity Label-MS), CC2D1B (Proximity Label-MS)
ESM2 similar proteins: A0A0G2JV04, B0V207, D3Z8X7, D3ZFJ3, D3ZND0, F1LM81, G9CGD6, O00499, O08539, O08839, O12940, O60308, O60784, O75674, O88746, P42567, P55194, Q05DH4, Q0GNC1, Q0IHV1, Q27J81, Q3B7M3, Q3UN70, Q4KLN4, Q505K2, Q5FVK6, Q5T0F9, Q5U3K5, Q66HA5, Q68EF0, Q6P1N0, Q6P5E6, Q6P9Q4, Q6P9Q6, Q80V31, Q80V94, Q8BMI3, Q8BRN9, Q8K1A6, Q8R0H9
Diamond homologs: Q29M42, Q5FVK6, Q5T0F9, Q66HA5, Q6P1N0, Q6PF54, Q8BRN9, Q8K1A6, Q9U2M8, Q9VKJ9
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| CC2D1B | “down-regulates quantity by repression” | HTR1A | “transcriptional regulation” |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 30 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Assembly of the ORC complex at the origin of replication | 5 | 36.0× | 4e-05 |
| Condensation of Prophase Chromosomes | 5 | 34.0× | 4e-05 |
| G2/M DNA damage checkpoint | 5 | 26.1× | 9e-05 |
| HCMV Late Events | 5 | 21.4× | 1e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
209 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 167 |
| Likely benign | 11 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4095 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:52353646:ACCT:A | acceptor_loss | 1.0000 |
| 1:52353648:C:A | acceptor_loss | 1.0000 |
| 1:52353649:T:A | acceptor_loss | 1.0000 |
| 1:52354629:A:AC | donor_gain | 1.0000 |
| 1:52354630:C:CC | donor_gain | 1.0000 |
| 1:52354630:CA:C | donor_gain | 1.0000 |
| 1:52354630:CACT:C | donor_gain | 1.0000 |
| 1:52354834:CCTCA:C | donor_loss | 1.0000 |
| 1:52354835:CTCA:C | donor_loss | 1.0000 |
| 1:52354836:TCA:T | donor_loss | 1.0000 |
| 1:52354837:CACCC:C | donor_loss | 1.0000 |
| 1:52354838:A:AC | donor_gain | 1.0000 |
| 1:52354838:A:AT | donor_loss | 1.0000 |
| 1:52354838:AC:A | donor_gain | 1.0000 |
| 1:52354839:C:CC | donor_gain | 1.0000 |
| 1:52354839:CC:C | donor_gain | 1.0000 |
| 1:52354935:AAATT:A | acceptor_gain | 1.0000 |
| 1:52354936:AATT:A | acceptor_gain | 1.0000 |
| 1:52354937:ATT:A | acceptor_gain | 1.0000 |
| 1:52354938:TT:T | acceptor_gain | 1.0000 |
| 1:52354940:C:CC | acceptor_gain | 1.0000 |
| 1:52354940:CT:C | acceptor_loss | 1.0000 |
| 1:52354941:T:A | acceptor_loss | 1.0000 |
| 1:52354944:C:CT | acceptor_gain | 1.0000 |
| 1:52354945:A:T | acceptor_gain | 1.0000 |
| 1:52355853:A:T | acceptor_gain | 1.0000 |
| 1:52356190:CAGT:C | donor_gain | 1.0000 |
| 1:52356298:CAAAT:C | acceptor_gain | 1.0000 |
| 1:52356299:AAAT:A | acceptor_gain | 1.0000 |
| 1:52356300:AAT:A | acceptor_gain | 1.0000 |
AlphaMissense
5495 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:52353613:A:G | L828P | 0.998 |
| 1:52355809:A:G | L703P | 0.998 |
| 1:52357029:A:G | L623P | 0.997 |
| 1:52358755:A:C | Y421D | 0.997 |
| 1:52353595:A:G | L834P | 0.996 |
| 1:52355636:A:T | V726E | 0.996 |
| 1:52355648:A:G | L722P | 0.996 |
| 1:52353548:A:G | W850R | 0.995 |
| 1:52353548:A:T | W850R | 0.995 |
| 1:52354918:A:G | L760P | 0.995 |
| 1:52355785:A:G | L711P | 0.995 |
| 1:52359037:C:G | R416P | 0.995 |
| 1:52359766:G:T | A294D | 0.995 |
| 1:52360509:C:G | R173P | 0.995 |
| 1:52354670:C:G | G796R | 0.994 |
| 1:52358700:A:G | L439S | 0.994 |
| 1:52358746:C:G | A424P | 0.994 |
| 1:52358754:T:G | Y421S | 0.994 |
| 1:52359779:A:C | Y290D | 0.994 |
| 1:52354669:C:T | G796D | 0.993 |
| 1:52354690:A:G | F789S | 0.993 |
| 1:52356258:A:G | L667P | 0.993 |
| 1:52357017:A:G | L627P | 0.993 |
| 1:52359038:G:T | R416S | 0.993 |
| 1:52360498:A:C | Y177D | 0.993 |
| 1:52353613:A:C | L828R | 0.992 |
| 1:52355785:A:C | L711R | 0.992 |
| 1:52355794:C:T | G708E | 0.992 |
| 1:52355795:C:G | G708R | 0.992 |
| 1:52355795:C:T | G708R | 0.992 |
dbSNP variants (sampled 300 via entrez): RS1000283233 (1:52358521 C>T), RS1000300011 (1:52364203 C>G), RS1000635840 (1:52365770 G>A,C), RS1000659872 (1:52353750 C>T), RS1000688113 (1:52365532 C>T), RS1000927185 (1:52359622 C>T), RS1001306228 (1:52362992 C>A), RS1001482401 (1:52357642 G>A), RS1001695280 (1:52357402 G>A), RS1001731691 (1:52352333 C>G,T), RS1001784048 (1:52352321 T>TC), RS1001805315 (1:52351838 C>T), RS1001864969 (1:52367428 C>T), RS1001944253 (1:52357392 C>T), RS1002068795 (1:52353470 G>A)
Disease associations
OMIM: gene `` | 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
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| mercuric bromide | increases expression, affects cotreatment | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| tetrahydropalmatine | decreases expression | 1 |
| beta-lapachone | increases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases 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 | increases expression, affects cotreatment | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| jinfukang | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Vehicle Emissions | affects expression, increases abundance | 1 |
| Benzo(a)pyrene | affects methylation, decreases methylation | 1 |
| Cadmium | increases expression, increases abundance | 1 |
| Methapyrilene | increases methylation | 1 |
| Phthalic Acids | increases expression | 1 |
| Quercetin | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Cadmium Chloride | increases abundance, increases expression | 1 |
| Particulate Matter | increases abundance, affects 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.