ICAM5
gene geneOn this page
Also known as TLN
Summary
ICAM5 (intercellular adhesion molecule 5, HGNC:5348) is a protein-coding gene on chromosome 19p13.2, encoding Intercellular adhesion molecule 5 (Q9UMF0). Cell adhesion molecule that functions as a receptor ligand of the signaling receptor ITGAL:ITGB2/LFA-1 (lymphocyte-function associated (LFA) molecule 1) ensuring neuron cell-leukocyte adhesion.
The protein encoded by this gene is a member of the intercellular adhesion molecule (ICAM) family. All ICAM proteins are type I transmembrane glycoproteins, contain 2-9 immunoglobulin-like C2-type domains, and bind to the leukocyte adhesion LFA-1 protein. This protein is expressed on the surface of telencephalic neurons and displays two types of adhesion activity, homophilic binding between neurons and heterophilic binding between neurons and leukocytes. It may be a critical component in neuron-microglial cell interactions in the course of normal development or as part of neurodegenerative diseases.
Source: NCBI Gene 7087 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 98 total
- MANE Select transcript:
NM_003259
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:5348 |
| Approved symbol | ICAM5 |
| Name | intercellular adhesion molecule 5 |
| Location | 19p13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | TLN |
| Ensembl gene | ENSG00000105376 |
| Ensembl biotype | protein_coding |
| OMIM | 601852 |
| Entrez | 7087 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 3 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000221980, ENST00000586004, ENST00000586480, ENST00000587398, ENST00000588912, ENST00000948402
RefSeq mRNA: 1 — MANE Select: NM_003259
NM_003259
CCDS: CCDS12233
Canonical transcript exons
ENST00000221980 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000676112 | 10291072 | 10291341 |
| ENSE00000676113 | 10291489 | 10291809 |
| ENSE00001188317 | 10289952 | 10290125 |
| ENSE00002876143 | 10296339 | 10296778 |
| ENSE00003467976 | 10294040 | 10294318 |
| ENSE00003516317 | 10292998 | 10293246 |
| ENSE00003545972 | 10292035 | 10292322 |
| ENSE00003562998 | 10292612 | 10292866 |
| ENSE00003653547 | 10295346 | 10295612 |
| ENSE00003680275 | 10293698 | 10293943 |
| ENSE00003685164 | 10294401 | 10294640 |
Expression profiles
Bgee: expression breadth ubiquitous, 162 present calls, max score 89.79.
FANTOM5 (CAGE): breadth broad, TPM avg 8.4258 / max 403.2302, expressed in 872 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 173780 | 6.2598 | 667 |
| 173782 | 1.8357 | 344 |
| 173779 | 0.2782 | 137 |
| 173781 | 0.0521 | 22 |
Top tissues by expression
289 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right frontal lobe | UBERON:0002810 | 89.79 | gold quality |
| prefrontal cortex | UBERON:0000451 | 88.94 | gold quality |
| cingulate cortex | UBERON:0003027 | 88.92 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 88.91 | gold quality |
| nucleus accumbens | UBERON:0001882 | 88.46 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 88.07 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 87.12 | gold quality |
| caudate nucleus | UBERON:0001873 | 86.32 | gold quality |
| frontal cortex | UBERON:0001870 | 85.88 | gold quality |
| frontal pole | UBERON:0002795 | 85.88 | gold quality |
| Ammon’s horn | UBERON:0001954 | 84.81 | gold quality |
| neocortex | UBERON:0001950 | 84.75 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 84.34 | gold quality |
| cerebral cortex | UBERON:0000956 | 84.05 | gold quality |
| amygdala | UBERON:0001876 | 84.00 | gold quality |
| right lung | UBERON:0002167 | 83.47 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 83.37 | gold quality |
| telencephalon | UBERON:0001893 | 83.29 | gold quality |
| putamen | UBERON:0001874 | 82.87 | gold quality |
| stromal cell of endometrium | CL:0002255 | 82.05 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 80.58 | gold quality |
| temporal lobe | UBERON:0001871 | 80.29 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 79.79 | gold quality |
| paraflocculus | UBERON:0005351 | 78.91 | gold quality |
| entorhinal cortex | UBERON:0002728 | 78.45 | silver quality |
| postcentral gyrus | UBERON:0002581 | 78.43 | silver quality |
| forebrain | UBERON:0001890 | 78.41 | gold quality |
| upper lobe of lung | UBERON:0008948 | 77.26 | gold quality |
| pancreatic ductal cell | CL:0002079 | 74.31 | silver quality |
| parietal lobe | UBERON:0001872 | 74.02 | silver quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.89 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): MYCN
miRNA regulators (miRDB)
36 targeting ICAM5, 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-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-6835-3P | 99.93 | 70.49 | 2904 |
| HSA-MIR-548D-3P | 99.87 | 70.67 | 4362 |
| HSA-MIR-548BB-3P | 99.86 | 70.58 | 4354 |
| HSA-MIR-5582-3P | 99.86 | 72.48 | 4221 |
| HSA-MIR-548AC | 99.84 | 70.77 | 4351 |
| HSA-MIR-548H-3P | 99.84 | 70.80 | 4349 |
| HSA-MIR-548Z | 99.84 | 70.80 | 4349 |
| HSA-MIR-6842-5P | 99.80 | 67.54 | 1587 |
| HSA-MIR-7110-5P | 99.80 | 67.84 | 1712 |
| HSA-MIR-4422 | 99.72 | 72.07 | 2908 |
| HSA-MIR-1252-3P | 99.55 | 67.71 | 2862 |
| HSA-MIR-4650-3P | 99.01 | 68.39 | 1062 |
| HSA-MIR-219A-1-3P | 98.91 | 67.87 | 639 |
| HSA-MIR-4703-5P | 98.53 | 70.13 | 1645 |
| HSA-MIR-3942-5P | 98.52 | 69.51 | 1517 |
| HSA-MIR-5585-3P | 98.25 | 67.41 | 941 |
| HSA-MIR-3132 | 97.96 | 67.91 | 711 |
| HSA-MIR-197-5P | 97.23 | 68.10 | 596 |
| HSA-MIR-1226-5P | 96.50 | 65.28 | 643 |
Literature-anchored findings (GeneRIF, showing 5)
- study does not confirm association between ICAM 5 V3001 polymorphism and breast cancer risk (PMID:16434609)
- ICAM-5 is involved in immune privilege of the brain and acts as an anti-inflammatory agent. (PMID:18223167)
- A specific microenvironment facilitating ARF6-mediated mobilization of TLN that contributes to promotion of dendritic spine development. (PMID:22781129)
- ICAM5 V301I and rs281439 variants may contribute to the susceptibility of breast cancer. [Meta-analysis] (PMID:23079714)
- Here the authors identify neuron-specific intercellular adhesion molecule 5 (ICAM-5/telencephalin) as a cellular receptor for sialic acid-dependent and -independent entry of enterovirus D68. (PMID:27923705)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Icam5 | ENSMUSG00000032174 |
| rattus_norvegicus | Icam5 | ENSRNOG00000020694 |
Paralogs (4): ICAM3 (ENSG00000076662), ICAM1 (ENSG00000090339), ICAM4 (ENSG00000105371), ICAM2 (ENSG00000108622)
Protein
Protein identifiers
Intercellular adhesion molecule 5 — Q9UMF0 (reviewed: Q9UMF0)
Alternative names: Telencephalin
All UniProt accessions (2): Q9UMF0, A0A9L9PXE8
UniProt curated annotations — full annotation on UniProt →
Function. Cell adhesion molecule that functions as a receptor ligand of the signaling receptor ITGAL:ITGB2/LFA-1 (lymphocyte-function associated (LFA) molecule 1) ensuring neuron cell-leukocyte adhesion. Creates homophilic cell adhesion promoting dendritogenesis and arborization of hippocampal neurons.
Subunit / interactions. Homotetramer.
Subcellular location. Cell membrane. Cell projection. Uropodium. Dendritic spine membrane.
Tissue specificity. Expressed on neurons in the most rostral segment of the mammalian brain, the telencephalon. Brain specific expression. Within the brain, only expressed in regions derived from the telencephalon. Highly expressed in the hippocampus and cerebral cortex, followed by the amygdala, caudate nucleus, occipital pole, frontal lobe, temporal lobe, and putamen. Lower expressed in the corpus callosum, subthalamic nucleus, and thalamus.
Domain organisation. Ig-like C2-type 1 domain mediates neuronal homophilic adhesion with Ig-like C2-type 4-5 domains.
Similarity. Belongs to the immunoglobulin superfamily. ICAM family.
RefSeq proteins (1): NP_003250* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003598 | Ig_sub2 | Domain |
| IPR003599 | Ig_sub | Domain |
| IPR003987 | ICAM_VCAM_N | Domain |
| IPR003988 | ICAM | Domain |
| IPR007110 | Ig-like_dom | Domain |
| IPR013768 | ICAM_N | Domain |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR036179 | Ig-like_dom_sf | Homologous_superfamily |
| IPR047012 | ICAM_VCAM | Family |
| IPR048679 | ICAM1_3_5_D2 | Domain |
Pfam: PF03921, PF13927, PF21146
UniProt features (88 total): strand 33, glycosylation site 14, disulfide bond 10, domain 9, sequence variant 5, helix 5, sequence conflict 3, modified residue 2, topological domain 2, signal peptide 1, chain 1, region of interest 1, compositionally biased region 1, transmembrane region 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3BN3 | X-RAY DIFFRACTION | 2.1 |
| 4OI9 | X-RAY DIFFRACTION | 2.5 |
| 4OIB | X-RAY DIFFRACTION | 3.5 |
| 4OIA | X-RAY DIFFRACTION | 3.7 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UMF0-F1 | 81.15 | 0.45 |
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 (2): 182, 184
Disulfide bonds (10): 55–99, 59–103, 142–198, 249–302, 344–383, 415–470, 498–552, 580–645, 673–725, 769–814
Glycosylation sites (14): 54, 74, 137, 195, 214, 303, 316, 371, 397, 583, 646, 764, 795, 796
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-198933 | Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell |
| R-HSA-216083 | Integrin cell surface interactions |
MSigDB gene sets: 163 (showing top):
BENPORATH_ES_WITH_H3K27ME3, YAGI_AML_WITH_INV_16_TRANSLOCATION, GOBP_PROTEIN_HOMOTETRAMERIZATION, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOBP_SYNAPSE_ASSEMBLY, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_REGULATION_OF_CELL_JUNCTION_ASSEMBLY, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_CELL_CELL_ADHESION, GOBP_CELL_JUNCTION_ORGANIZATION, FREAC3_01, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A4, GOBP_REGULATION_OF_SYNAPSE_ASSEMBLY
GO Biological Process (8): phagocytosis (GO:0006909), cell adhesion (GO:0007155), homophilic cell-cell adhesion (GO:0007156), neuron cell-cell adhesion (GO:0007158), cell-cell adhesion mediated by integrin (GO:0033631), protein homotetramerization (GO:0051289), regulation of synapse assembly (GO:0051963), cell-cell adhesion (GO:0098609)
GO Molecular Function (3): integrin binding (GO:0005178), receptor ligand activity (GO:0048018), protein binding (GO:0005515)
GO Cellular Component (7): plasma membrane (GO:0005886), uropod membrane (GO:0031259), dendritic spine membrane (GO:0032591), cell projection (GO:0042995), glutamatergic synapse (GO:0098978), membrane (GO:0016020), postsynapse (GO:0098794)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Adaptive Immune System | 1 |
| Extracellular matrix organization | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cell-cell adhesion | 3 |
| cellular anatomical structure | 3 |
| signaling receptor binding | 2 |
| synapse | 2 |
| endocytosis | 1 |
| cellular process | 1 |
| cell adhesion mediated by integrin | 1 |
| protein homooligomerization | 1 |
| protein tetramerization | 1 |
| synapse assembly | 1 |
| regulation of synapse organization | 1 |
| regulation of cell junction assembly | 1 |
| cell adhesion | 1 |
| protein-containing complex binding | 1 |
| cell adhesion molecule binding | 1 |
| signal transduction | 1 |
| signaling receptor activator activity | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| uropod | 1 |
| cell projection membrane | 1 |
| cell trailing edge membrane | 1 |
| neuron projection membrane | 1 |
| dendrite membrane | 1 |
| dendritic spine | 1 |
| synaptic membrane | 1 |
Protein interactions and networks
STRING
1196 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ICAM5 | ITGAL | P20701 | 875 |
| ICAM5 | ITGB2 | P05107 | 771 |
| ICAM5 | TMED10 | P49755 | 586 |
| ICAM5 | EZR | P15311 | 574 |
| ICAM5 | RDX | P35241 | 558 |
| ICAM5 | ITGB1 | P05556 | 551 |
| ICAM5 | PSEN1 | P49768 | 550 |
| ICAM5 | APH1A | Q96BI3 | 548 |
| ICAM5 | NCSTN | Q92542 | 540 |
| ICAM5 | MSN | P26038 | 524 |
| ICAM5 | EIF2B2 | P49770 | 494 |
| ICAM5 | VTN | P01141 | 488 |
| ICAM5 | CD47 | Q08722 | 480 |
| ICAM5 | UBQLN1 | Q9UMX0 | 449 |
| ICAM5 | PVR | P15151 | 444 |
IntAct
142 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FBXO6 | MAN2B1 | psi-mi:“MI:0914”(association) | 0.640 |
| ACTN1 | ICAM5 | psi-mi:“MI:0915”(physical association) | 0.600 |
| ACTN1 | ICAM5 | psi-mi:“MI:0407”(direct interaction) | 0.600 |
| ALAS1 | ICAM5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| AMBN | ICAM5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ICAM5 | KLF5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPM6A | ICAM5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MT2A | ICAM5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| VDAC2 | ICAM5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| AKAP9 | ICAM5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TADA3 | ICAM5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MYLIP | ICAM5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FAM135B | ICAM5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CRLF3 | ICAM5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| REX1BD | ICAM5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF31 | ICAM5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| OTUB1 | ICAM5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CD248 | ICAM5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GINS3 | ICAM5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LRRC61 | ICAM5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DSN1 | ICAM5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LZTS2 | ICAM5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KLHL32 | ICAM5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RAB3IP | ICAM5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT222 | ICAM5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ASB9 | ICAM5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FAM117B | ICAM5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CNST | ICAM5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| H3-5 | ICAM5 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (69): ICAM5 (Affinity Capture-MS), ICAM5 (Affinity Capture-MS), ICAM5 (Affinity Capture-MS), ICAM5 (Affinity Capture-MS), ICAM5 (Affinity Capture-MS), ICAM5 (Affinity Capture-MS), ICAM5 (Affinity Capture-MS), ICAM5 (Affinity Capture-MS), ICAM5 (Affinity Capture-MS), ICAM5 (Affinity Capture-MS), ICAM5 (Affinity Capture-MS), ICAM5 (Affinity Capture-MS), ICAM5 (Affinity Capture-MS), ICAM5 (Affinity Capture-MS), ICAM5 (Affinity Capture-MS)
ESM2 similar proteins: A6NMB1, D3ZQE1, E9QA28, G1T7E7, G1TR84, O75054, O75144, P05362, P07722, P09564, P11364, P15151, P16573, P20916, P20917, P32506, P32942, P33729, Q08ET2, Q1WIM1, Q1WIM3, Q28110, Q28125, Q28730, Q28806, Q2WEN9, Q5DRQ8, Q5NKU6, Q5NKV4, Q5NKV6, Q5NKV9, Q5R996, Q60625, Q64JA4, Q6BAA4, Q7TSU7, Q8N126, Q8NFZ8, Q8R464, Q8VBT3
Diamond homologs: P05362, P13597, P13598, P32942, P33729, P35330, Q00238, Q14773, Q28125, Q28730, Q28806, Q5NKT8, Q5NKU6, Q5NKV1, Q5NKV2, Q5NKV4, Q5NKV6, Q5NKV9, Q60625, Q95132, Q9UMF0, A0A0B4J1L0, A0A140LHF2, D3ZQE1, E9QA28, O75871, P06731, P11464, P11465, P13688, P16573, P31809, P31997, P35329, P40198, P40199, P79701, Q00887, Q00888, Q00889
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
98 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 87 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1660 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:10290122:TCAGG:T | donor_loss | 1.0000 |
| 19:10290123:CAGGT:C | donor_loss | 1.0000 |
| 19:10290125:GGTAA:G | donor_loss | 1.0000 |
| 19:10290126:G:GA | donor_loss | 1.0000 |
| 19:10290127:T:G | donor_loss | 1.0000 |
| 19:10291810:G:GG | donor_gain | 1.0000 |
| 19:10292323:G:GG | donor_gain | 1.0000 |
| 19:10292328:G:GT | donor_gain | 1.0000 |
| 19:10292332:G:GT | donor_gain | 1.0000 |
| 19:10292845:A:T | donor_gain | 1.0000 |
| 19:10292867:G:GG | donor_gain | 1.0000 |
| 19:10293225:G:GT | donor_gain | 1.0000 |
| 19:10293245:GT:G | donor_gain | 1.0000 |
| 19:10293938:TGGA:T | donor_gain | 1.0000 |
| 19:10293939:GGAAT:G | donor_gain | 1.0000 |
| 19:10293940:GAAT:G | donor_gain | 1.0000 |
| 19:10293940:GAATG:G | donor_gain | 1.0000 |
| 19:10293942:ATGT:A | donor_loss | 1.0000 |
| 19:10293943:TGTG:T | donor_loss | 1.0000 |
| 19:10293944:G:GA | donor_loss | 1.0000 |
| 19:10293944:G:GG | donor_gain | 1.0000 |
| 19:10293945:T:TG | donor_loss | 1.0000 |
| 19:10293946:GAG:G | donor_loss | 1.0000 |
| 19:10294641:G:GG | donor_gain | 1.0000 |
| 19:10295344:A:AG | acceptor_gain | 1.0000 |
| 19:10295344:AGACC:A | acceptor_gain | 1.0000 |
| 19:10295345:G:GG | acceptor_gain | 1.0000 |
| 19:10295345:GACC:G | acceptor_gain | 1.0000 |
| 19:10295345:GACCG:G | acceptor_gain | 1.0000 |
| 19:10295608:GGCCG:G | donor_gain | 1.0000 |
AlphaMissense
5828 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:10291235:G:C | W82C | 1.000 |
| 19:10291235:G:T | W82C | 1.000 |
| 19:10295458:G:C | W781C | 1.000 |
| 19:10295458:G:T | W781C | 1.000 |
| 19:10291291:T:G | F101C | 0.999 |
| 19:10295420:T:A | C769S | 0.999 |
| 19:10295421:G:C | C769S | 0.999 |
| 19:10295456:T:A | W781R | 0.999 |
| 19:10295456:T:C | W781R | 0.999 |
| 19:10295550:A:G | Y812C | 0.999 |
| 19:10295555:T:A | C814S | 0.999 |
| 19:10295556:G:C | C814S | 0.999 |
| 19:10291152:T:A | C55S | 0.998 |
| 19:10291152:T:C | C55R | 0.998 |
| 19:10291153:G:A | C55Y | 0.998 |
| 19:10291153:G:C | C55S | 0.998 |
| 19:10291154:C:G | C55W | 0.998 |
| 19:10291164:T:A | C59S | 0.998 |
| 19:10291164:T:C | C59R | 0.998 |
| 19:10291165:G:A | C59Y | 0.998 |
| 19:10291165:G:C | C59S | 0.998 |
| 19:10291284:T:C | C99R | 0.998 |
| 19:10291285:G:A | C99Y | 0.998 |
| 19:10291286:C:G | C99W | 0.998 |
| 19:10293189:T:A | C470S | 0.998 |
| 19:10293190:G:C | C470S | 0.998 |
| 19:10295420:T:C | C769R | 0.998 |
| 19:10295421:G:A | C769Y | 0.998 |
| 19:10295549:T:G | Y812D | 0.998 |
| 19:10295555:T:C | C814R | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000071669 (19:10295469 C>T), RS1000131028 (19:10289747 G>C), RS1000439713 (19:10296944 A>G,T), RS1000495516 (19:10290851 T>C), RS1001581628 (19:10296621 G>C,T), RS1001631422 (19:10289787 A>G), RS1001971499 (19:10290906 C>A,T), RS1002136774 (19:10293017 T>A,G), RS1002527145 (19:10294724 C>T), RS1002548764 (19:10294566 A>G), RS1002689661 (19:10289004 G>T), RS1002989774 (19:10295073 A>G), RS1004185068 (19:10288469 A>C,T), RS1004301233 (19:10288265 T>A), RS1006539002 (19:10292114 G>A)
Disease associations
OMIM: gene MIM:601852 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002740_79 | Inflammatory skin disease | 3.000000e-07 |
| GCST004610_90 | White blood cell count | 2.000000e-11 |
| GCST004632_17 | Lymphocyte percentage of white cells | 5.000000e-14 |
| GCST006585_1488 | Blood protein levels | 7.000000e-103 |
| GCST006585_39 | Blood protein levels | 2.000000e-111 |
| GCST90002389_262 | Lymphocyte percentage of white cells | 3.000000e-29 |
| GCST90002399_219 | Neutrophil percentage of white cells | 9.000000e-14 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007993 | lymphocyte percentage of leukocytes |
| EFO:0007990 | neutrophil percentage of leukocytes |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs901886 | ICAM5 | 0.00 | 0 |
CTD chemical–gene interactions
31 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases expression | 2 |
| Arsenic | affects expression, increases abundance | 2 |
| Benzo(a)pyrene | affects methylation, decreases methylation, increases expression | 2 |
| Tobacco Smoke Pollution | decreases expression, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| propionaldehyde | increases expression | 1 |
| bisphenol A | decreases expression | 1 |
| ethyl-p-hydroxybenzoate | decreases expression | 1 |
| arsenite | increases methylation | 1 |
| butyraldehyde | increases expression | 1 |
| 3,4,5,3’,4’-pentachlorobiphenyl | increases expression | 1 |
| K 7174 | decreases expression | 1 |
| abrine | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Air Pollutants | increases expression, increases abundance | 1 |
| Arsenicals | affects expression, increases abundance | 1 |
| Cacodylic Acid | affects expression, increases abundance | 1 |
| Carmustine | decreases expression | 1 |
| Diazinon | decreases methylation | 1 |
| Lead | affects expression | 1 |
| Niclosamide | increases expression | 1 |
| Silicon Dioxide | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Dronabinol | decreases expression | 1 |
| Triclosan | decreases expression | 1 |
| 1-Methyl-4-phenylpyridinium | increases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Gold Compounds | decreases methylation | 1 |
| Asbestos, Serpentine | decreases methylation | 1 |
| Acrylamide | decreases expression | 1 |
Cellosaurus cell lines
4 cell lines: 4 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_SR94 | HAP1 ICAM5 (-) 1 | Cancer cell line | Male |
| CVCL_XP66 | HAP1 ICAM5 (-) 2 | Cancer cell line | Male |
| CVCL_XP67 | HAP1 ICAM5 (-) 3 | Cancer cell line | Male |
| CVCL_XP68 | HAP1 ICAM5 (-) 4 | 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.