KIR3DL3
gene geneOn this page
Also known as KIRC1KIR3DL7KIR44CD158Z
Summary
KIR3DL3 (killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 3, HGNC:16312) is a protein-coding gene on chromosome 19q13.42, encoding Killer cell immunoglobulin-like receptor 3DL3 (Q8N743). Receptor on natural killer cells.
Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several “framework” genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene is one of the “framework” loci that is present on all haplotypes.
Source: NCBI Gene 115653 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 63 total
- MANE Select transcript:
NM_153443
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16312 |
| Approved symbol | KIR3DL3 |
| Name | killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 3 |
| Location | 19q13.42 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIRC1, KIR3DL7, KIR44, CD158Z |
| Ensembl gene | ENSG00000242019 |
| Ensembl biotype | protein_coding |
| OMIM | 610095 |
| Entrez | 115653 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000291860
RefSeq mRNA: 1 — MANE Select: NM_153443
NM_153443
CCDS: CCDS12903
Canonical transcript exons
ENST00000291860 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001177563 | 54724442 | 54724530 |
| ENSE00001180595 | 54735971 | 54736632 |
| ENSE00002433667 | 54735820 | 54735872 |
| ENSE00002448164 | 54735253 | 54735357 |
| ENSE00002459303 | 54727611 | 54727910 |
| ENSE00002465183 | 54729493 | 54729786 |
| ENSE00002515209 | 54725247 | 54725282 |
| ENSE00002534362 | 54726053 | 54726337 |
Expression profiles
Bgee: expression breadth tissue_specific, 3 present calls, max score 78.91.
Top tissues by expression
124 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 78.91 | silver quality |
| bone marrow cell | CL:0002092 | 40.04 | gold quality |
| sural nerve | UBERON:0015488 | 38.11 | gold quality |
| granulocyte | CL:0000094 | 37.64 | gold quality |
| colonic epithelium | UBERON:0000397 | 37.20 | gold quality |
| ventricular zone | UBERON:0003053 | 36.48 | gold quality |
| cortical plate | UBERON:0005343 | 36.47 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 36.36 | silver quality |
| ganglionic eminence | UBERON:0004023 | 35.49 | gold quality |
| blood | UBERON:0000178 | 33.82 | silver quality |
| bone marrow | UBERON:0002371 | 33.73 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 33.38 | gold quality |
| duodenum | UBERON:0002114 | 32.66 | gold quality |
| muscle tissue | UBERON:0002385 | 31.06 | gold quality |
| tonsil | UBERON:0002372 | 30.42 | gold quality |
| stromal cell of endometrium | CL:0002255 | 29.87 | gold quality |
| leukocyte | CL:0000738 | 29.25 | gold quality |
| liver | UBERON:0002107 | 29.17 | gold quality |
| prefrontal cortex | UBERON:0000451 | 29.04 | gold quality |
| monocyte | CL:0000576 | 27.62 | gold quality |
| lymph node | UBERON:0000029 | 27.57 | gold quality |
| uterine cervix | UBERON:0000002 | 27.36 | gold quality |
| spleen | UBERON:0002106 | 27.36 | gold quality |
| urinary bladder | UBERON:0001255 | 26.82 | gold quality |
| rectum | UBERON:0001052 | 26.66 | gold quality |
| islet of Langerhans | UBERON:0000006 | 26.55 | gold quality |
| vermiform appendix | UBERON:0001154 | 26.42 | gold quality |
| gall bladder | UBERON:0002110 | 25.98 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 25.89 | gold quality |
| placenta | UBERON:0001987 | 25.81 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-84 | yes | 34.11 |
| E-ANND-3 | no | 0.16 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
24 targeting KIR3DL3, 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-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-4302 | 99.89 | 67.94 | 1187 |
| HSA-MIR-6505-5P | 99.73 | 69.25 | 1595 |
| HSA-MIR-4524A-3P | 99.72 | 66.85 | 2406 |
| HSA-MIR-7157-5P | 99.66 | 69.33 | 1829 |
| HSA-MIR-6513-3P | 99.59 | 69.77 | 1102 |
| HSA-MIR-4310 | 99.59 | 68.84 | 2527 |
| HSA-MIR-549A-3P | 99.54 | 68.17 | 825 |
| HSA-MIR-766-3P | 99.47 | 65.24 | 1811 |
| HSA-MIR-5697 | 99.39 | 67.74 | 1249 |
| HSA-MIR-133A-5P | 99.28 | 69.13 | 941 |
| HSA-MIR-10B-3P | 99.04 | 66.98 | 988 |
| HSA-MIR-4326 | 98.97 | 67.63 | 962 |
| HSA-MIR-3922-5P | 98.77 | 66.53 | 1059 |
| HSA-MIR-12114 | 98.70 | 63.45 | 730 |
| HSA-MIR-3144-5P | 97.64 | 65.45 | 646 |
| HSA-MIR-4676-5P | 97.54 | 65.29 | 715 |
| HSA-MIR-575 | 97.54 | 65.18 | 718 |
| HSA-MIR-6781-3P | 97.44 | 66.85 | 970 |
| HSA-MIR-2682-3P | 97.10 | 66.16 | 840 |
| HSA-MIR-4296 | 96.35 | 63.55 | 1233 |
| HSA-MIR-4265 | 96.18 | 64.68 | 557 |
| HSA-MIR-4322 | 96.18 | 64.85 | 539 |
| HSA-MIR-191-3P | 83.90 | 61.25 | 44 |
Literature-anchored findings (GeneRIF, showing 11)
- an inhibitory element was identified in the KIR2DL4 promoter and an activating element was found in the KIR3DL3 promoter; AML-2 acts as a repressor of expression of both KIR2DL4 and KIR3DL3 in mature NK cells (PMID:15778373)
- KIR3DL3 gene is not a pseudogene but encodes a protein that is not expressed in healthy individuals. (PMID:16391939)
- Allelic sequence polymorphism at the KIR3DL3 is associated with pre-Eclampsia (PMID:16823588)
- Seventeen novel alleles have been added to the already extensive KIR3DL3 diversity. (PMID:17900289)
- The frequencies of alleles of killer cell immunoglobulin-like receptor genes, KIR3DL3 and KIR3DL2, and the carrier frequency of KIR2DL4 alleles have been determined from a population of African Americans by DNA sequencing of the coding regions. (PMID:21607693)
- Array CGH showed a 95 Kb de novo duplication on chromosome 19q13.4 encompassing four killer cell immunoglobulin-like receptor (KIR) genes. (PMID:23952617)
- Higher proportion of NK cells expressing inhibitory CD158b and CD158e receptors is associated with significant liver injury in children with chronic hepatitis C. (PMID:28611271)
- KIR3DL3 Is an Inhibitory Receptor for HHLA2 that Mediates an Alternative Immunoinhibitory Pathway to PD1. (PMID:33229411)
- KIR3DL3-HHLA2 is a human immunosuppressive pathway and a therapeutic target. (PMID:34244312)
- KIR3DL3-HHLA2 and TMIGD2-HHLA2 pathways: The dual role of HHLA2 in immune responses and its potential therapeutic approach for cancer immunotherapy. (PMID:35933091)
- Polymorphic KIR3DL3 expression modulates tissue-resident and innate-like T cells. (PMID:37390222)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Kir3dl1 | ENSMUSG00000031424 |
| mus_musculus | Kir3dl2 | ENSMUSG00000057439 |
| rattus_norvegicus | Kir3dl1 | ENSRNOG00000027843 |
Paralogs (25): GP6 (ENSG00000088053), LILRB1 (ENSG00000104972), LILRA1 (ENSG00000104974), LILRB5 (ENSG00000105609), A1BG (ENSG00000121410), KIR2DL1 (ENSG00000125498), LILRB2 (ENSG00000131042), IGSF1 (ENSG00000147255), LAIR2 (ENSG00000167618), KIR3DL1 (ENSG00000167633), OSCAR (ENSG00000170909), FCAR (ENSG00000186431), LILRB4 (ENSG00000186818), LILRA5 (ENSG00000187116), KIR2DL4 (ENSG00000189013), VSTM1 (ENSG00000189068), NCR1 (ENSG00000189430), LILRB3 (ENSG00000204577), KIR2DS4 (ENSG00000221957), LILRA4 (ENSG00000239961), LILRA2 (ENSG00000239998), KIR3DL2 (ENSG00000240403), KIR2DL3 (ENSG00000243772), LILRA6 (ENSG00000244482), TARM1 (ENSG00000248385)
Protein
Protein identifiers
Killer cell immunoglobulin-like receptor 3DL3 — Q8N743 (reviewed: Q8N743)
Alternative names: CD158 antigen-like family member Z, Killer cell inhibitory receptor 1
All UniProt accessions (1): A0A8I5QEB2
UniProt curated annotations — full annotation on UniProt →
Function. Receptor on natural killer cells. May inhibit the activity of NK cells thus preventing cell lysis.
Subcellular location. Cell membrane.
Polymorphism. Various different KIR3DL3 alleles are known: KIR3DL300101, KIR3DL300102, KIR3DL300103, KIR3DL300201, KIR3DL300202, KIR3DL300203, KIR3DL300204, KIR3DL300205, KIR3DL300206, KIR3DL300207, KIR3DL30030101 KIR3DL30030102, KIR3DL300401, KIR3DL300402, KIR3DL3005, KIR3DL300601, KIR3DL300602, KIR3DL3007, KIR3DL300801, KIR3DL300802, KIR3DL300901, KIR3DL300902, KIR3DL3010, KIR3DL301101, KIR3DL301102, KIR3DL3012, KIR3DL301301, KIR3DL301302, KIR3DL301303, KIR3DL301304, KIR3DL301305, KIR3DL301306, KIR3DL301307, KIR3DL301401, KIR3DL301402, KIR3DL301403, KIR3DL301404, KIR3DL301405, KIR3DL3015 KIR3DL3016, KIR3DL3017, KIR3DL3018, KIR3DL3019, KIR3DL3020, KIR3DL3021, KIR3DL3022, KIR3DL3023, KIR3DL3024, KIR3DL3025, KIR3DL3026, KIR3DL3027, KIR3DL3028, KIR3DL3029, KIR3DL3030 and KIR3DL3031. The sequence shown corresponds to the alleles KIR3DL3002.
Similarity. Belongs to the immunoglobulin superfamily.
RefSeq proteins (1): NP_703144* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003598 | Ig_sub2 | Domain |
| IPR003599 | Ig_sub | Domain |
| IPR013151 | Immunoglobulin_dom | Domain |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR036179 | Ig-like_dom_sf | Homologous_superfamily |
| IPR050412 | Ig-like_Receptors_ImmuneReg | Family |
Pfam: PF00047
UniProt features (28 total): sequence variant 14, glycosylation site 3, disulfide bond 3, domain 3, topological domain 2, signal peptide 1, chain 1, transmembrane region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N743-F1 | 80.20 | 0.55 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Disulfide bonds (3): 49–95, 144–195, 244–293
Glycosylation sites (3): 273, 179, 239
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 30 (showing top):
GOBP_REGULATION_OF_IMMUNE_RESPONSE, GNF2_IL2RB, KEGG_ANTIGEN_PROCESSING_AND_PRESENTATION, SHEN_SMARCA2_TARGETS_DN, GOMF_TRANSMEMBRANE_SIGNALING_RECEPTOR_ACTIVITY, HAHTOLA_SEZARY_SYNDROM_DN, LI_INDUCED_T_TO_NATURAL_KILLER_UP, GOBP_IMMUNE_RESPONSE_REGULATING_SIGNALING_PATHWAY, GOBP_IMMUNE_RESPONSE_INHIBITING_SIGNAL_TRANSDUCTION, JNK_DN.V1_DN, GOMF_IMMUNE_RECEPTOR_ACTIVITY, NFKBIA_TARGET_GENES, MIR5697, MIR6781_3P, MIR2682_3P
GO Biological Process (2): immune response-regulating signaling pathway (GO:0002764), cell communication (GO:0007154)
GO Molecular Function (0):
GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| signal transduction | 1 |
| regulation of immune response | 1 |
| cellular process | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
320 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| KIR3DL3 | STAC | Q99469 | 859 |
| KIR3DL3 | HHLA2 | Q9UM44 | 837 |
| KIR3DL3 | SORBS1 | Q9BX66 | 822 |
| KIR3DL3 | SPART | Q8N0X7 | 806 |
| KIR3DL3 | HLA-B | P01889 | 801 |
| KIR3DL3 | TRIM45 | Q9H8W5 | 767 |
| KIR3DL3 | HLA-A | P01891 | 739 |
| KIR3DL3 | HLA-C | P04222 | 733 |
| KIR3DL3 | RUNX3 | Q13761 | 715 |
| KIR3DL3 | FCHSD2 | O94868 | 713 |
| KIR3DL3 | NCAM1 | P13591 | 684 |
| KIR3DL3 | KLRD1 | Q13241 | 625 |
| KIR3DL3 | KIR2DL1 | P43626 | 583 |
| KIR3DL3 | KIR2DL4 | P78400 | 581 |
| KIR3DL3 | ETV7 | Q9Y603 | 518 |
IntAct
310 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| EDDM3B | KIR3DL3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GIMAP5 | KIR3DL3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC35A1 | KIR3DL3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EMP3 | KIR3DL3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LAPTM5 | KIR3DL3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ASIC1 | KIR3DL3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TNMD | KIR3DL3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| C5 | KIR3DL3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| UPK2 | KIR3DL3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ADAM33 | KIR3DL3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CMTM5 | KIR3DL3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| AGTRAP | KIR3DL3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| OLFM4 | KIR3DL3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| JAGN1 | KIR3DL3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CTXN3 | KIR3DL3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KIR3DL3 | CMTM5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CD53 | KIR3DL3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KIR3DL3 | GIMAP5 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (29): KIR3DL3 (Two-hybrid), KIR3DL3 (Two-hybrid), KIR3DL3 (Two-hybrid), KIR3DL3 (Two-hybrid), KIR3DL3 (Two-hybrid), KIR3DL3 (Two-hybrid), KIR3DL3 (Two-hybrid), KIR3DL3 (Two-hybrid), KIR3DL3 (Two-hybrid), KIR3DL3 (Two-hybrid), KIR3DL3 (Two-hybrid), KIR3DL3 (Two-hybrid), KIR3DL3 (Two-hybrid), KIR3DL3 (Two-hybrid), KIR3DL3 (Two-hybrid)
ESM2 similar proteins: A0A0G2KBC9, A1YIY0, B6A8R8, C0HJX2, C0HJX3, D3ZQX2, P08101, P0C1X9, P0DTI4, P12314, P12318, P26151, P43626, P43627, P43628, P43629, P43630, P43631, P43632, P83555, P83556, P97484, Q01965, Q13291, Q14943, Q14952, Q14953, Q14954, Q28942, Q3B8P2, Q60513, Q61450, Q63203, Q64281, Q68SN8, Q6UX27, Q7TQA1, Q7Z6M3, Q8BG84, Q8BHK6
Diamond homologs: A0A0G2KBC9, A6NI73, C0HJX2, C0HJX3, D3ZQX2, O75019, O75022, O75023, O76036, P0C191, P24071, P43626, P43629, P43630, P59901, P83556, P97484, Q14943, Q14954, Q61450, Q64281, Q6GTX8, Q6ISS4, Q6PI73, Q7TQA1, Q863H2, Q8C567, Q8IYS5, Q8MJZ2, Q8MJZ7, Q8N109, Q8N149, Q8N423, Q8N6C8, Q8N743, Q8NHJ6, Q8NHK3, Q8NHL6, Q95JB9, Q9HCN6
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 105 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 |
|---|---|---|---|
| Ras activation upon Ca2+ influx through NMDA receptor | 5 | 46.8× | 3e-06 |
| Unblocking of NMDA receptors, glutamate binding and activation | 5 | 44.6× | 3e-06 |
| Negative regulation of NMDA receptor-mediated neuronal transmission | 5 | 44.6× | 3e-06 |
| Long-term potentiation | 5 | 39.0× | 6e-06 |
| Assembly and cell surface presentation of NMDA receptors | 8 | 33.3× | 9e-09 |
| Neurexins and neuroligins | 9 | 29.1× | 4e-09 |
| Protein-protein interactions at synapses | 5 | 21.8× | 1e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| establishment or maintenance of epithelial cell apical/basal polarity | 10 | 59.9× | 3e-13 |
| receptor clustering | 8 | 51.5× | 5e-10 |
| protein localization to synapse | 6 | 47.4× | 4e-07 |
| regulation of postsynaptic membrane neurotransmitter receptor levels | 6 | 30.7× | 4e-06 |
| cell-cell adhesion | 10 | 10.5× | 4e-06 |
| protein-containing complex assembly | 8 | 9.4× | 1e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
63 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 55 |
| Likely benign | 6 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
910 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:54724529:TGG:T | donor_loss | 1.0000 |
| 19:54724531:G:T | donor_loss | 1.0000 |
| 19:54726254:GGACC:G | donor_gain | 1.0000 |
| 19:54726255:G:T | donor_gain | 1.0000 |
| 19:54735248:TCCA:T | acceptor_loss | 1.0000 |
| 19:54735249:CCA:C | acceptor_loss | 1.0000 |
| 19:54735250:CA:C | acceptor_loss | 1.0000 |
| 19:54735251:A:AG | acceptor_gain | 1.0000 |
| 19:54735251:AG:A | acceptor_gain | 1.0000 |
| 19:54735252:G:GG | acceptor_gain | 1.0000 |
| 19:54735252:GG:G | acceptor_gain | 1.0000 |
| 19:54735252:GGT:G | acceptor_gain | 1.0000 |
| 19:54735252:GGTA:G | acceptor_gain | 1.0000 |
| 19:54735252:GGTAA:G | acceptor_gain | 1.0000 |
| 19:54735353:AAAGA:A | donor_gain | 1.0000 |
| 19:54735354:AAGA:A | donor_gain | 1.0000 |
| 19:54735355:AGA:A | donor_gain | 1.0000 |
| 19:54735356:GA:G | donor_gain | 1.0000 |
| 19:54735356:GAG:G | donor_gain | 1.0000 |
| 19:54735358:G:GG | donor_gain | 1.0000 |
| 19:54724527:GTTG:G | donor_gain | 0.9900 |
| 19:54724531:G:GG | donor_gain | 0.9900 |
| 19:54726213:G:GT | donor_gain | 0.9900 |
| 19:54735355:AGAG:A | donor_loss | 0.9900 |
| 19:54735357:AGTAA:A | donor_loss | 0.9900 |
| 19:54735358:G:A | donor_loss | 0.9900 |
| 19:54735359:TAAGT:T | donor_loss | 0.9900 |
| 19:54735360:AA:A | donor_loss | 0.9900 |
| 19:54735361:AGTCT:A | donor_loss | 0.9900 |
| 19:54735745:ATGTT:A | acceptor_gain | 0.9900 |
AlphaMissense
2665 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:54727883:A:C | S210R | 0.956 |
| 19:54727885:T:A | S210R | 0.956 |
| 19:54727885:T:G | S210R | 0.956 |
| 19:54727712:T:C | F153L | 0.954 |
| 19:54727714:C:A | F153L | 0.954 |
| 19:54727714:C:G | F153L | 0.954 |
| 19:54729759:A:C | S308R | 0.946 |
| 19:54729761:T:A | S308R | 0.946 |
| 19:54729761:T:G | S308R | 0.946 |
| 19:54726154:T:C | F58L | 0.943 |
| 19:54726156:C:A | F58L | 0.943 |
| 19:54726156:C:G | F58L | 0.943 |
| 19:54729567:T:A | C244S | 0.929 |
| 19:54729568:G:C | C244S | 0.929 |
| 19:54729717:T:C | F294L | 0.928 |
| 19:54729719:C:A | F294L | 0.928 |
| 19:54729719:C:G | F294L | 0.928 |
| 19:54726259:T:G | Y93D | 0.927 |
| 19:54726168:A:C | K62N | 0.925 |
| 19:54726168:A:T | K62N | 0.925 |
| 19:54729675:T:C | F280L | 0.923 |
| 19:54729677:C:A | F280L | 0.923 |
| 19:54729677:C:G | F280L | 0.923 |
| 19:54726310:A:C | S110R | 0.921 |
| 19:54726312:C:A | S110R | 0.921 |
| 19:54726312:C:G | S110R | 0.921 |
| 19:54729562:T:C | L242S | 0.921 |
| 19:54729714:T:A | C293S | 0.917 |
| 19:54729715:G:C | C293S | 0.917 |
| 19:54727685:T:A | C144S | 0.914 |
dbSNP variants (sampled 300 via entrez): RS1000235612 (19:54725272 G>A,T), RS1000499370 (19:54724291 G>A,T), RS1000571618 (19:54723973 C>G,T), RS1001119231 (19:54731005 T>G), RS1002892303 (19:54726885 A>G), RS1003367262 (19:54725555 C>T), RS1004598589 (19:54728800 G>A), RS1006240523 (19:54734443 A>G), RS1006826642 (19:54723955 G>A,C), RS1006929219 (19:54723863 A>G), RS1007367212 (19:54726087 C>A,G,T), RS1008032877 (19:54733838 G>C), RS1008063788 (19:54733522 C>CA), RS1008609098 (19:54732126 G>A), RS1008860136 (19:54724777 G>A)
Disease associations
OMIM: gene MIM:610095 | 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 |
|---|---|---|
| GCST90002394_566 | Monocyte percentage of white cells | 4.000000e-10 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007989 | monocyte percentage of leukocytes |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
7 total (human), top 7 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| quercitrin | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| Arsenic | affects expression | 1 |
| Benzo(a)pyrene | increases expression | 1 |
| Cadmium | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Copper Sulfate | increases 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.