CD2BP2
gene geneOn this page
Also known as LIN1Snu40PPP1R59U5-52K
Summary
CD2BP2 (CD2 cytoplasmic tail binding protein 2, HGNC:1656) is a protein-coding gene on chromosome 16p11.2, encoding CD2 antigen cytoplasmic tail-binding protein 2 (O95400). Involved in pre-mRNA splicing as component of the U5 snRNP complex that is involved in spliceosome assembly. It is a selective cancer dependency (DepMap: 35.1% of cell lines).
This gene encodes a bi-functional protein. In the cytoplasm, the encoded protein binds the cytoplasmic tail of human surface antigen CD2 via its C-terminal GYF domain, and regulate CD2-triggered T lymphocyte activation. In the nucleus, this protein is a component of the U5 small nuclear ribonucleoprotein complex and is involved in RNA splicing. A pseudogene has been identified on chromosome 7. Alternative splicing results in multiple transcript variants but their biological validity has not been determined.
Source: NCBI Gene 10421 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 70 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 35.1% of screened cell lines
- MANE Select transcript:
NM_006110
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1656 |
| Approved symbol | CD2BP2 |
| Name | CD2 cytoplasmic tail binding protein 2 |
| Location | 16p11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | LIN1, Snu40, PPP1R59, U5-52K |
| Ensembl gene | ENSG00000169217 |
| Ensembl biotype | protein_coding |
| OMIM | 604470 |
| Entrez | 10421 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 8 protein_coding, 1 retained_intron
ENST00000305596, ENST00000564525, ENST00000569466, ENST00000855800, ENST00000855801, ENST00000855802, ENST00000921035, ENST00000921036, ENST00000943282
RefSeq mRNA: 2 — MANE Select: NM_006110
NM_001243646, NM_006110
CCDS: CCDS10675
Canonical transcript exons
ENST00000305596 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001139794 | 30353181 | 30353287 |
| ENSE00001139799 | 30353368 | 30353800 |
| ENSE00001139805 | 30353901 | 30354058 |
| ENSE00001139812 | 30354184 | 30354322 |
| ENSE00001316361 | 30350773 | 30353095 |
| ENSE00001389090 | 30355212 | 30355308 |
| ENSE00003500884 | 30354604 | 30354707 |
Expression profiles
Bgee: expression breadth ubiquitous, 296 present calls, max score 95.11.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 29.1167 / max 146.3959, expressed in 1819 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 157037 | 27.4075 | 1818 |
| 157038 | 1.7091 | 992 |
Top tissues by expression
301 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| tendon of biceps brachii | UBERON:0008188 | 95.11 | gold quality |
| granulocyte | CL:0000094 | 95.06 | gold quality |
| left adrenal gland | UBERON:0001234 | 94.06 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 94.04 | gold quality |
| adrenal cortex | UBERON:0001235 | 93.80 | gold quality |
| right adrenal gland | UBERON:0001233 | 93.79 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 93.69 | gold quality |
| islet of Langerhans | UBERON:0000006 | 93.45 | gold quality |
| type B pancreatic cell | CL:0000169 | 93.23 | silver quality |
| left uterine tube | UBERON:0001303 | 93.23 | gold quality |
| mucosa of stomach | UBERON:0001199 | 93.15 | gold quality |
| monocyte | CL:0000576 | 93.05 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 93.05 | gold quality |
| adrenal gland | UBERON:0002369 | 93.04 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 92.93 | gold quality |
| leukocyte | CL:0000738 | 92.76 | gold quality |
| mononuclear cell | CL:0000842 | 92.73 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 92.72 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 92.58 | gold quality |
| popliteal artery | UBERON:0002250 | 92.55 | gold quality |
| tibial artery | UBERON:0007610 | 92.55 | gold quality |
| body of stomach | UBERON:0001161 | 92.49 | gold quality |
| body of pancreas | UBERON:0001150 | 92.48 | gold quality |
| ganglionic eminence | UBERON:0004023 | 92.43 | gold quality |
| adenohypophysis | UBERON:0002196 | 92.37 | gold quality |
| nipple | UBERON:0002030 | 92.29 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 92.27 | gold quality |
| aorta | UBERON:0000947 | 92.26 | gold quality |
| pancreas | UBERON:0001264 | 92.26 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 92.14 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.76 |
| E-MTAB-4850 | no | 271.01 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
39 targeting CD2BP2, 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-520G-5P | 99.99 | 66.76 | 658 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
| HSA-MIR-515-5P | 99.92 | 69.82 | 2343 |
| HSA-MIR-519E-5P | 99.92 | 69.62 | 2358 |
| HSA-MIR-6739-5P | 99.80 | 67.87 | 2806 |
| HSA-MIR-6842-5P | 99.80 | 67.54 | 1587 |
| HSA-MIR-7110-5P | 99.80 | 67.84 | 1712 |
| HSA-MIR-200A-5P | 99.76 | 69.10 | 949 |
| HSA-MIR-200B-5P | 99.76 | 69.05 | 948 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
| HSA-MIR-6733-5P | 99.74 | 67.94 | 2759 |
| HSA-MIR-6715B-5P | 99.64 | 69.63 | 1420 |
| HSA-MIR-4516 | 99.61 | 67.78 | 3390 |
| HSA-MIR-4269 | 99.55 | 69.89 | 1373 |
| HSA-MIR-486-3P | 99.51 | 66.82 | 1901 |
| HSA-MIR-5584-5P | 99.49 | 68.22 | 2814 |
| HSA-MIR-582-5P | 99.47 | 70.79 | 2635 |
| HSA-MIR-5695 | 99.41 | 67.48 | 1047 |
| HSA-MIR-6852-5P | 99.17 | 66.69 | 2073 |
| HSA-MIR-3125 | 99.14 | 68.49 | 2269 |
| HSA-MIR-6809-5P | 99.13 | 68.45 | 1223 |
| HSA-MIR-6815-3P | 99.13 | 68.98 | 1530 |
| HSA-MIR-3154 | 98.94 | 66.55 | 1455 |
| HSA-MIR-4755-3P | 98.77 | 65.59 | 1915 |
| HSA-MIR-7851-3P | 98.72 | 64.88 | 980 |
| HSA-MIR-1227-5P | 98.65 | 65.32 | 1549 |
| HSA-MIR-210-5P | 98.57 | 64.37 | 832 |
| HSA-MIR-3136-5P | 98.53 | 67.68 | 793 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 35.1% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 5)
- CD2BP2 is the ligand of the membrane-proximal proline-rich tandem repeat of CD2 in detergent-soluble membrane compartments. (PMID:12426371)
- there is a function of the GYF domain of CD2BP2 in mediating protein-protein interactions within the spliceosome (PMID:15105431)
- interaction of CD2BP2 with a tri-snRNP bridging protein (Prp6), coupled with CD2BP2’s absence from the tri-snRNP, suggests it might function in tri-snRNP assembly (PMID:15840814)
- findings indicate that CD2BP2 is not a constitutive binding partner or key regulator of CD2-mediated signaling events (PMID:17906334)
- Knockdown of CD2BP2 results in reduced miRNA levels. CD2BP2 stabilizes miRISC and mature miRNAs, maintaining them at levels necessary to properly regulate target gene expression. (PMID:28180320)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cd2bp2 | ENSDARG00000027357 |
| mus_musculus | Cd2bp2 | ENSMUSG00000042502 |
| rattus_norvegicus | Cd2bp2 | ENSRNOG00000017201 |
| drosophila_melanogaster | holn1 | FBGN0032250 |
| caenorhabditis_elegans | WBGENE00006563 |
Protein
Protein identifiers
CD2 antigen cytoplasmic tail-binding protein 2 — O95400 (reviewed: O95400)
Alternative names: U5 snRNP 52K protein
All UniProt accessions (2): O95400, A0A024QZC1
UniProt curated annotations — full annotation on UniProt →
Function. Involved in pre-mRNA splicing as component of the U5 snRNP complex that is involved in spliceosome assembly.
Subunit / interactions. Component of the U5 snRNP complex composed of the U5 snRNA and at least PRPF6, PRPF8, SNRNP200, EFTUD2, SNRNP40, DDX23, TXNL4A and CD2BP2. Interacts directly with TXNL4A and PRPF6. Interacts (via GYF domain) with CD2 (via Pro-rich sequence in the cytoplasmic domain). Interacts with PQBP1.
Subcellular location. Cytoplasm. Nucleus.
RefSeq proteins (2): NP_001230575, NP_006101* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003169 | GYF | Domain |
| IPR035445 | GYF-like_dom_sf | Homologous_superfamily |
| IPR039905 | CD2BP2/Lin1 | Family |
Pfam: PF02213
UniProt features (34 total): helix 11, strand 7, modified residue 6, region of interest 3, sequence variant 2, chain 1, domain 1, cross-link 1, turn 1, compositionally biased region 1
Structure
Experimental structures (PDB)
10 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1SYX | X-RAY DIFFRACTION | 2.35 |
| 4BWS | X-RAY DIFFRACTION | 2.5 |
| 8Q91 | ELECTRON MICROSCOPY | 3.1 |
| 8Q7Q | ELECTRON MICROSCOPY | 3.2 |
| 8RC0 | ELECTRON MICROSCOPY | 3.2 |
| 8Q7V | ELECTRON MICROSCOPY | 3.8 |
| 8Q7W | ELECTRON MICROSCOPY | 3.9 |
| 8Q7X | ELECTRON MICROSCOPY | 4.6 |
| 1GYF | SOLUTION NMR | |
| 1L2Z | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O95400-F1 | 70.04 | 0.10 |
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 (7): 194, 195, 26, 44, 46, 49, 118
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-9918481 | Dengue Virus-Host Interactions |
MSigDB gene sets: 150 (showing top):
SCIBETTA_KDM5B_TARGETS_UP, GGGTGGRR_PAX4_03, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A5, GOBP_SPLICEOSOMAL_TRI_SNRNP_COMPLEX_ASSEMBLY, BLALOCK_ALZHEIMERS_DISEASE_UP, chr16p11, WU_ALZHEIMER_DISEASE_DN, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, MODULE_99, GOBP_PROTEIN_RNA_COMPLEX_ORGANIZATION, GOBP_RNA_SPLICING, HFH1_01, GUO_HEX_TARGETS_UP, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_UP, NRF2_01
GO Biological Process (3): spliceosomal tri-snRNP complex assembly (GO:0000244), mRNA processing (GO:0006397), RNA splicing (GO:0008380)
GO Molecular Function (2): ribonucleoprotein complex binding (GO:0043021), protein binding (GO:0005515)
GO Cellular Component (7): fibrillar center (GO:0001650), nucleus (GO:0005634), nucleoplasm (GO:0005654), U5 snRNP (GO:0005682), cytoplasm (GO:0005737), cytosol (GO:0005829), nuclear speck (GO:0016607)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Dengue Virus Infection | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| RNA processing | 2 |
| spliceosomal snRNP assembly | 1 |
| mRNA metabolic process | 1 |
| protein-containing complex binding | 1 |
| binding | 1 |
| nucleolus | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| spliceosomal snRNP complex | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| nuclear ribonucleoprotein granule | 1 |
Protein interactions and networks
STRING
1430 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CD2BP2 | CD2 | P06729 | 958 |
| CD2BP2 | DDX23 | Q9BUQ8 | 891 |
| CD2BP2 | CASK | O14936 | 720 |
| CD2BP2 | EFTUD2 | Q15029 | 713 |
| CD2BP2 | AAR2 | Q9Y312 | 689 |
| CD2BP2 | CD58 | P19256 | 662 |
| CD2BP2 | TXNL4A | P83876 | 657 |
| CD2BP2 | SNRPB | P14678 | 615 |
| CD2BP2 | PRPF6 | O94906 | 613 |
| CD2BP2 | IL3RA | P26951 | 606 |
| CD2BP2 | NCAM1 | P13591 | 528 |
| CD2BP2 | ITGAX | P20702 | 524 |
| CD2BP2 | FCGR3B | O75015 | 512 |
| CD2BP2 | FCGR3A | P08637 | 510 |
| CD2BP2 | CD19 | P15391 | 506 |
IntAct
221 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CD2BP2 | CD2 | psi-mi:“MI:0407”(direct interaction) | 0.930 |
| PRPF6 | CD2BP2 | psi-mi:“MI:0915”(physical association) | 0.930 |
| PRPF6 | CD2BP2 | psi-mi:“MI:0407”(direct interaction) | 0.930 |
| CD2 | CD2BP2 | psi-mi:“MI:0407”(direct interaction) | 0.930 |
| SNRPF | GEMIN2 | psi-mi:“MI:0914”(association) | 0.910 |
| SNRPB | CD2BP2 | psi-mi:“MI:0915”(physical association) | 0.880 |
| CD2BP2 | SNRPB | psi-mi:“MI:0915”(physical association) | 0.880 |
| SNRPB | CD2BP2 | psi-mi:“MI:0403”(colocalization) | 0.880 |
| SNRPB | CD2BP2 | psi-mi:“MI:0407”(direct interaction) | 0.880 |
| CD2BP2 | SNRPB | psi-mi:“MI:0915”(physical association) | 0.860 |
| SNRPB | CD2BP2 | psi-mi:“MI:0915”(physical association) | 0.860 |
| CD2BP2 | SNRPB | psi-mi:“MI:0407”(direct interaction) | 0.860 |
| SNRPB | CD2BP2 | psi-mi:“MI:0407”(direct interaction) | 0.860 |
| CD2BP2 | ACAD11 | psi-mi:“MI:0915”(physical association) | 0.800 |
| CD2BP2 | SNRNP200 | psi-mi:“MI:0914”(association) | 0.800 |
| TXNL4A | CD2BP2 | psi-mi:“MI:0915”(physical association) | 0.790 |
| TXNL4A | CD2BP2 | psi-mi:“MI:0407”(direct interaction) | 0.790 |
| PRPF6 | SNRNP200 | psi-mi:“MI:0914”(association) | 0.770 |
| SNRPE | GEMIN2 | psi-mi:“MI:0914”(association) | 0.770 |
| SART1 | PRPF3 | psi-mi:“MI:0914”(association) | 0.720 |
| SNRPD2 | GEMIN2 | psi-mi:“MI:0914”(association) | 0.710 |
| SNRPG | GEMIN2 | psi-mi:“MI:0914”(association) | 0.710 |
BioGRID (415): CD2BP2 (Two-hybrid), CD2BP2 (Two-hybrid), CD2BP2 (Affinity Capture-RNA), CD2BP2 (Affinity Capture-RNA), CD2BP2 (Affinity Capture-MS), CD2BP2 (Affinity Capture-MS), CD2BP2 (Affinity Capture-MS), CD2BP2 (Co-fractionation), CD2BP2 (Co-fractionation), CD2BP2 (Co-fractionation), CD2BP2 (Co-fractionation), CD2BP2 (Co-fractionation), CD2BP2 (Co-fractionation), DDX23 (Co-fractionation), POLR3C (Co-fractionation)
ESM2 similar proteins: A1L131, A4IFK7, C5IJB0, D3ZND0, F1MX48, O60232, O95400, P35689, Q0VCT3, Q17QX2, Q2KIJ6, Q2YD98, Q3ZBK7, Q3ZBN4, Q4R4I0, Q53GS7, Q5EAN7, Q5FVK6, Q5PPF5, Q5RAS2, Q5T0F9, Q68F60, Q69ZT1, Q6AYI4, Q6NU18, Q6TLH3, Q7L4P6, Q7TMX5, Q8BL74, Q8BRN9, Q8BSI6, Q8C0R7, Q8C6D4, Q8N5A5, Q8R322, Q8VDM1, Q91VL8, Q91WA6, Q91WR3, Q969X0
Diamond homologs: O95400, Q9CWK3, Q9VKV5
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 150 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 |
|---|---|---|---|
| Metabolism of non-coding RNA | 6 | 34.6× | 7e-07 |
| mRNA Splicing - Minor Pathway | 14 | 28.5× | 2e-15 |
| mRNA Splicing - Major Pathway | 39 | 19.4× | 7e-38 |
| mRNA Splicing | 19 | 19.0× | 2e-17 |
| mRNA Polyadenylation | 21 | 16.8× | 4e-18 |
| SARS-CoV-2 modulates host translation machinery | 8 | 16.3× | 1e-06 |
| Processing of Capped Intron-Containing Pre-mRNA | 20 | 14.9× | 2e-16 |
| RNA Polymerase II Transcription Termination | 7 | 14.0× | 3e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| RNA splicing, via transesterification reactions | 10 | 48.0× | 8e-13 |
| spliceosomal complex assembly | 10 | 46.3× | 1e-12 |
| spliceosomal snRNP assembly | 10 | 44.7× | 1e-12 |
| U2-type prespliceosome assembly | 8 | 38.4× | 2e-09 |
| mRNA splicing, via spliceosome | 33 | 23.2× | 2e-33 |
| RNA splicing | 25 | 17.0× | 3e-21 |
| regulation of alternative mRNA splicing, via spliceosome | 7 | 13.2× | 9e-05 |
| mRNA processing | 21 | 12.7× | 4e-15 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
70 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 58 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
907 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:30353712:TGGGC:T | donor_gain | 1.0000 |
| 16:30353721:A:AC | donor_gain | 1.0000 |
| 16:30353797:TCACC:T | acceptor_loss | 1.0000 |
| 16:30353799:ACCT:A | acceptor_loss | 1.0000 |
| 16:30353802:T:A | acceptor_loss | 1.0000 |
| 16:30354181:TACC:T | donor_loss | 1.0000 |
| 16:30354183:C:A | donor_loss | 1.0000 |
| 16:30354183:CCTT:C | donor_gain | 1.0000 |
| 16:30354319:CCAG:C | acceptor_gain | 1.0000 |
| 16:30354320:CAGC:C | acceptor_gain | 1.0000 |
| 16:30354323:C:A | acceptor_loss | 1.0000 |
| 16:30354323:C:CC | acceptor_gain | 1.0000 |
| 16:30354337:C:CT | acceptor_gain | 1.0000 |
| 16:30354337:C:T | acceptor_gain | 1.0000 |
| 16:30354338:A:T | acceptor_gain | 1.0000 |
| 16:30354598:CCTCA:C | donor_loss | 1.0000 |
| 16:30354599:CTCAC:C | donor_loss | 1.0000 |
| 16:30354600:TCACC:T | donor_loss | 1.0000 |
| 16:30354601:CACC:C | donor_loss | 1.0000 |
| 16:30354602:A:AG | donor_loss | 1.0000 |
| 16:30354603:C:CA | donor_loss | 1.0000 |
| 16:30354603:CCTT:C | donor_gain | 1.0000 |
| 16:30354704:CAAG:C | acceptor_gain | 1.0000 |
| 16:30354705:AAG:A | acceptor_gain | 1.0000 |
| 16:30354708:C:CC | acceptor_gain | 1.0000 |
| 16:30355208:TCAC:T | donor_loss | 1.0000 |
| 16:30355209:CACC:C | donor_loss | 1.0000 |
| 16:30355210:ACCT:A | donor_loss | 1.0000 |
| 16:30353288:C:CC | acceptor_gain | 0.9900 |
| 16:30353722:T:C | donor_gain | 0.9900 |
AlphaMissense
2224 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:30354006:A:C | F90L | 1.000 |
| 16:30354006:A:T | F90L | 1.000 |
| 16:30354008:A:G | F90L | 1.000 |
| 16:30353247:C:A | W283C | 0.999 |
| 16:30353247:C:G | W283C | 0.999 |
| 16:30353919:C:A | W119C | 0.999 |
| 16:30353919:C:G | W119C | 0.999 |
| 16:30353921:A:G | W119R | 0.999 |
| 16:30353921:A:T | W119R | 0.999 |
| 16:30353973:A:C | F101L | 0.999 |
| 16:30353973:A:T | F101L | 0.999 |
| 16:30353974:A:G | F101S | 0.999 |
| 16:30353975:A:G | F101L | 0.999 |
| 16:30353185:A:G | M304T | 0.998 |
| 16:30353249:A:G | W283R | 0.998 |
| 16:30353249:A:T | W283R | 0.998 |
| 16:30353974:A:C | F101C | 0.998 |
| 16:30353981:C:G | G99R | 0.998 |
| 16:30354001:A:G | L92P | 0.998 |
| 16:30354007:A:C | F90C | 0.998 |
| 16:30354008:A:T | F90I | 0.998 |
| 16:30353052:C:G | R320P | 0.997 |
| 16:30353957:A:C | Y107D | 0.997 |
| 16:30353962:C:A | G105V | 0.997 |
| 16:30354007:A:G | F90S | 0.997 |
| 16:30353000:A:C | F337L | 0.996 |
| 16:30353000:A:T | F337L | 0.996 |
| 16:30353002:A:G | F337L | 0.996 |
| 16:30353054:G:C | C319W | 0.996 |
| 16:30353917:A:G | L120P | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000267867 (16:30352463 A>G,T), RS1000671819 (16:30356398 T>C), RS1000848578 (16:30351491 A>C), RS1001652822 (16:30353151 C>G,T), RS1001890416 (16:30356707 C>A,G), RS1001951451 (16:30355017 G>C,T), RS1002090171 (16:30357050 C>T), RS1002252597 (16:30351992 T>C), RS1002300626 (16:30355141 C>T), RS1002477481 (16:30351818 G>A), RS1003090135 (16:30351229 C>T), RS1003133563 (16:30354218 G>C), RS1003362180 (16:30355897 T>A,C), RS1003897151 (16:30354583 A>G), RS1004096786 (16:30354747 G>A,C)
Disease associations
OMIM: gene MIM:604470 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST010703_269 | Brain morphology (MOSTest) | 4.000000e-13 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004346 | neuroimaging measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6066341 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
38 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, increases expression, increases methylation | 3 |
| ochratoxin A | decreases expression | 2 |
| Air Pollutants | affects expression, increases abundance, decreases expression | 2 |
| Cadmium Chloride | decreases expression, increases abundance, increases expression | 2 |
| Particulate Matter | decreases expression, increases abundance, affects expression, increases reaction | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | increases activity, affects binding, decreases expression | 1 |
| bisphenol A | affects cotreatment, increases expression | 1 |
| sodium arsenate | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| oxidized-L-alpha-1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphorylcholine | affects expression, increases reaction | 1 |
| abrine | increases expression | 1 |
| LDN 193189 | affects cotreatment, increases expression | 1 |
| Leflunomide | decreases expression | 1 |
| Arbutin | decreases expression | 1 |
| Atrazine | decreases expression | 1 |
| Vehicle Emissions | affects expression, increases reaction | 1 |
| Cadmium | increases expression, increases abundance | 1 |
| Caffeine | increases phosphorylation | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Diazinon | increases methylation | 1 |
| Enzyme Inhibitors | increases O-linked glycosylation, decreases activity | 1 |
| Indomethacin | increases expression, affects cotreatment | 1 |
| Ivermectin | decreases expression | 1 |
| Lead | decreases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5651069 | Binding | Binding affinity to human CD2BP2 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Cellosaurus cell lines
4 cell lines: 3 cancer cell line, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1D9 | Abcam HCT 116 CD2BP2 KO | Cancer cell line | Male |
| CVCL_B2TT | Abcam HEK293T CD2BP2 KO | Transformed cell line | Female |
| CVCL_SH69 | HAP1 CD2BP2 (-) 1 | Cancer cell line | Male |
| CVCL_SH70 | HAP1 CD2BP2 (-) 2 | Cancer cell line | 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.