ACKR4
gene geneOn this page
Also known as CCR11CCBP2VSHK1CCX-CKRPPR1
Summary
ACKR4 (atypical chemokine receptor 4, HGNC:1611) is a protein-coding gene on chromosome 3q22.1, encoding Atypical chemokine receptor 4 (Q9NPB9). Atypical chemokine receptor that controls chemokine levels and localization via high-affinity chemokine binding that is uncoupled from classic ligand-driven signal transduction cascades, resulting instead in chemokine sequestration, degradation, or transcytosis.
The protein encoded by this gene is a member of the G protein-coupled receptor family, and is a receptor for C-C type chemokines. This receptor has been shown to bind dendritic cell- and T cell-activated chemokines including CCL19/ELC, CCL21/SLC, and CCL25/TECK. A pseudogene of this gene is found on chromosome 6. Alternatively spliced transcript variants encoding the same protein have been described.
Source: NCBI Gene 51554 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 1 total
- MANE Select transcript:
NM_016557
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1611 |
| Approved symbol | ACKR4 |
| Name | atypical chemokine receptor 4 |
| Location | 3q22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CCR11, CCBP2, VSHK1, CCX-CKR, PPR1 |
| Ensembl gene | ENSG00000129048 |
| Ensembl biotype | protein_coding |
| OMIM | 606065 |
| Entrez | 51554 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 3 protein_coding, 1 nonsense_mediated_decay
ENST00000249887, ENST00000509820, ENST00000878670, ENST00000964709
RefSeq mRNA: 2 — MANE Select: NM_016557
NM_016557, NM_178445
CCDS: CCDS3075
Canonical transcript exons
ENST00000249887 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000885857 | 132600389 | 132602644 |
| ENSE00001231496 | 132597270 | 132597323 |
Expression profiles
Bgee: expression breadth ubiquitous, 132 present calls, max score 86.15.
FANTOM5 (CAGE): breadth broad, TPM avg 4.7280 / max 270.4053, expressed in 392 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 38634 | 4.5240 | 388 |
| 38633 | 0.2040 | 91 |
Top tissues by expression
137 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| duodenum | UBERON:0002114 | 86.15 | gold quality |
| ascending aorta | UBERON:0001496 | 79.95 | gold quality |
| thoracic aorta | UBERON:0001515 | 79.92 | gold quality |
| gall bladder | UBERON:0002110 | 78.60 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 76.92 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 76.73 | gold quality |
| right coronary artery | UBERON:0001625 | 75.96 | gold quality |
| skin of leg | UBERON:0001511 | 75.61 | gold quality |
| zone of skin | UBERON:0000014 | 75.39 | gold quality |
| calcaneal tendon | UBERON:0003701 | 75.09 | gold quality |
| skin of abdomen | UBERON:0001416 | 74.88 | gold quality |
| pituitary gland | UBERON:0000007 | 74.58 | gold quality |
| right atrium auricular region | UBERON:0006631 | 73.78 | gold quality |
| adipose tissue | UBERON:0001013 | 71.97 | gold quality |
| heart | UBERON:0000948 | 71.79 | gold quality |
| small intestine | UBERON:0002108 | 71.47 | gold quality |
| heart left ventricle | UBERON:0002084 | 71.27 | gold quality |
| lung | UBERON:0002048 | 71.15 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 71.06 | gold quality |
| adenohypophysis | UBERON:0002196 | 71.06 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 70.99 | gold quality |
| tonsil | UBERON:0002372 | 70.87 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 70.52 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 70.48 | gold quality |
| apex of heart | UBERON:0002098 | 70.26 | gold quality |
| body of stomach | UBERON:0001161 | 70.25 | gold quality |
| popliteal artery | UBERON:0002250 | 70.15 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 70.14 | gold quality |
| tibial artery | UBERON:0007610 | 70.14 | gold quality |
| right uterine tube | UBERON:0001302 | 69.94 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.37 |
| E-MTAB-10290 | no | 294.95 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
69 targeting ACKR4, 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-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-1-3P | 99.93 | 72.35 | 1914 |
| HSA-MIR-206 | 99.93 | 72.50 | 1893 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
| HSA-MIR-1297 | 99.91 | 73.41 | 3162 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-613 | 99.91 | 71.50 | 1710 |
| HSA-MIR-374A-5P | 99.90 | 71.34 | 2923 |
| HSA-MIR-374B-5P | 99.90 | 69.98 | 2734 |
| HSA-MIR-137-3P | 99.87 | 74.74 | 2401 |
| HSA-MIR-5582-3P | 99.86 | 72.48 | 4221 |
| HSA-MIR-629-3P | 99.85 | 67.99 | 1875 |
| HSA-MIR-765 | 99.84 | 68.24 | 2442 |
| HSA-MIR-944 | 99.82 | 70.85 | 3042 |
| HSA-MIR-4307 | 99.82 | 70.45 | 3374 |
| HSA-MIR-489-3P | 99.80 | 66.46 | 839 |
Literature-anchored findings (GeneRIF, showing 18)
- Characterization of mouse CCX-CKR, a receptor for the lymphocyte-attracting chemokines TECK/mCCL25, SLC/mCCL21 and MIP-3beta/mCCL19: comparison to human CCX-CKR. (PMID:11981810)
- Scavenges extracellular chemokines in vivo to modify responses through CCR7. (PMID:16791897)
- Down regulation of CCX-CKR is associated with breast cancer. (PMID:19383822)
- Data suggest that co-expression of CCX-CKR and CXCR3 (chemokine receptor type 3) in T-lymphocytes results in protein multimerization and prevents CXCR3-mediated chemotaxis; this represents a novel mechanism of regulation of immune cell migration. (PMID:23121557)
- Results suggest that chemokine binding to CCX-CKR recruits Gi proteins and beta-arrestin (beta-arr) with high affinity. (PMID:23341447)
- co-expression of DARC, D6, and CCX-CKR significantly associated with higher survival in gastric cancer (PMID:23462454)
- Effect of genetic variants in two chemokine decoy receptor genes, DARC and CCBP2, on metastatic potential of breast cancer. (PMID:24260134)
- we found that CCX-CKR expression in vitro could modulate cellular migration and invasion abilities, potentially via the regulation of other chemotactic factors/receptors. (PMID:24338720)
- Results of this study show that HEK 293 cells express an endogenous CCRL1 gene only at mRNA level. These data therefore represent the important implications for the use of HEK 293 cells as a host cell system for the study of CCX-CKR. (PMID:26699909)
- CCL19-mRFP and CCL21-mRFP are versatile and powerful tools to study CCR7 and ACKR4 functions. (PMID:30518137)
- ACKR4 Recruits GRK3 Prior to beta-Arrestins but Can Scavenge Chemokines in the Absence of beta-Arrestins. (PMID:32391018)
- Systematic reassessment of chemokine-receptor pairings confirms CCL20 but not CXCL13 and extends the spectrum of ACKR4 agonists to CCL22. (PMID:32480426)
- CCL20 is a novel ligand for the scavenging atypical chemokine receptor 4. (PMID:32533638)
- Biphasic Expression of Atypical Chemokine Receptor (ACKR) 2 and ACKR4 in Colorectal Neoplasms in Association with Histopathological Findings. (PMID:33374792)
- The relation between ACKR4 and CCR7 genes expression and breast cancer metastasis. (PMID:34102193)
- Mechanosensitive ACKR4 scavenges CCR7 chemokines to facilitate T cell de-adhesion and passive transport by flow in inflamed afferent lymphatics. (PMID:35108538)
- Identification of ACKR4 as an immune checkpoint in pulmonary arterial hypertension. (PMID:37449198)
- Atypical chemokine receptor 4 (ACKR4/CCX-CKR): A comprehensive exploration across physiological and pathological landscapes in contemporary research. (PMID:38597217)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ackr4b | ENSDARG00000040133 |
| danio_rerio | ackr4a | ENSDARG00000078729 |
| mus_musculus | Ackr4 | ENSMUSG00000079355 |
| rattus_norvegicus | Ackr4 | ENSRNOG00000011478 |
Paralogs (23): CCR6 (ENSG00000112486), CCRL2 (ENSG00000121797), CCR2 (ENSG00000121807), CXCR4 (ENSG00000121966), CCR7 (ENSG00000126353), ACKR3 (ENSG00000144476), ACKR2 (ENSG00000144648), RGR (ENSG00000148604), CXCR5 (ENSG00000160683), CCR5 (ENSG00000160791), CXCR1 (ENSG00000163464), CCR1 (ENSG00000163823), CX3CR1 (ENSG00000168329), CXCR6 (ENSG00000172215), XCR1 (ENSG00000173578), CCR9 (ENSG00000173585), CCR8 (ENSG00000179934), CXCR2 (ENSG00000180871), GALR2 (ENSG00000182687), CCR3 (ENSG00000183625), CCR4 (ENSG00000183813), CCR10 (ENSG00000184451), CXCR3 (ENSG00000186810)
Protein
Protein identifiers
Atypical chemokine receptor 4 — Q9NPB9 (reviewed: Q9NPB9)
Alternative names: C-C chemokine receptor type 11, CC chemokine receptor-like 1, CCX CKR
All UniProt accessions (2): Q9NPB9, H0Y9Z2
UniProt curated annotations — full annotation on UniProt →
Function. Atypical chemokine receptor that controls chemokine levels and localization via high-affinity chemokine binding that is uncoupled from classic ligand-driven signal transduction cascades, resulting instead in chemokine sequestration, degradation, or transcytosis. Also known as interceptor (internalizing receptor) or chemokine-scavenging receptor or chemokine decoy receptor. Acts as a receptor for chemokines CCL2, CCL8, CCL13, CCL19, CCL21 and CCL25. Chemokine-binding does not activate G-protein-mediated signal transduction but instead induces beta-arrestin recruitment, leading to ligand internalization. Plays an important role in controlling the migration of immune and cancer cells that express chemokine receptors CCR7 and CCR9, by reducing the availability of CCL19, CCL21, and CCL25 through internalization. Negatively regulates CXCR3-induced chemotaxis. Regulates T-cell development in the thymus.
Subunit / interactions. Forms heteromers with CXCR3. Interacts with ARRB1 and ARRB2.
Subcellular location. Early endosome. Recycling endosome. Cell membrane.
Tissue specificity. Predominantly expressed in heart. Lower expression in lung, pancreas, spleen, colon, skeletal muscle and small intestine.
Post-translational modifications. The Ser/Thr residues in the C-terminal cytoplasmic tail may be phosphorylated.
Similarity. Belongs to the G-protein coupled receptor 1 family. Atypical chemokine receptor subfamily.
RefSeq proteins (2): NP_057641, NP_848540 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000276 | GPCR_Rhodpsn | Family |
| IPR000355 | Chemokine_rcpt | Family |
| IPR005383 | ACKR4 | Family |
| IPR017452 | GPCR_Rhodpsn_7TM | Domain |
| IPR050119 | CCR1-9-like | Family |
Pfam: PF00001
UniProt features (19 total): topological domain 8, transmembrane region 7, glycosylation site 2, chain 1, disulfide bond 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NPB9-F1 | 81.55 | 0.36 |
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 (1): 112–184
Glycosylation sites (2): 6, 19
Function
Pathways and Gene Ontology
Reactome pathways
6 pathways
| ID | Pathway |
|---|---|
| R-HSA-380108 | Chemokine receptors bind chemokines |
| R-HSA-162582 | Signal Transduction |
| R-HSA-372790 | Signaling by GPCR |
| R-HSA-373076 | Class A/1 (Rhodopsin-like receptors) |
| R-HSA-375276 | Peptide ligand-binding receptors |
| R-HSA-500792 | GPCR ligand binding |
MSigDB gene sets: 115 (showing top):
GOBP_CELL_CHEMOTAXIS, GOBP_RESPONSE_TO_PEPTIDE, JAEGER_METASTASIS_DN, GOCC_CELL_SURFACE, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_TAXIS, REACTOME_PEPTIDE_LIGAND_BINDING_RECEPTORS, GARY_CD5_TARGETS_DN, WANG_CISPLATIN_RESPONSE_AND_XPC_DN, HU_GENOTOXIN_ACTION_DIRECT_VS_INDIRECT_4HR, VECCHI_GASTRIC_CANCER_EARLY_DN, chr3q22, TGGAAA_NFAT_Q4_01, GOCC_SIDE_OF_MEMBRANE, GOCC_RECYCLING_ENDOSOME
GO Biological Process (9): chemotaxis (GO:0006935), immune response (GO:0006955), G protein-coupled receptor signaling pathway (GO:0007186), positive regulation of cytosolic calcium ion concentration (GO:0007204), calcium-mediated signaling (GO:0019722), cell chemotaxis (GO:0060326), signal transduction (GO:0007165), vesicle-mediated transport (GO:0016192), chemokine-mediated signaling pathway (GO:0070098)
GO Molecular Function (7): chemokine receptor activity (GO:0004950), scavenger receptor activity (GO:0005044), C-C chemokine receptor activity (GO:0016493), C-C chemokine binding (GO:0019957), G protein-coupled receptor activity (GO:0004930), protein binding (GO:0005515), chemokine binding (GO:0019956)
GO Cellular Component (6): early endosome (GO:0005769), plasma membrane (GO:0005886), external side of plasma membrane (GO:0009897), recycling endosome (GO:0055037), endosome (GO:0005768), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-5 pathways:
| Category | Pathways |
|---|---|
| Peptide ligand-binding receptors | 1 |
| Signal Transduction | 1 |
| GPCR ligand binding | 1 |
| Class A/1 (Rhodopsin-like receptors) | 1 |
| Signaling by GPCR | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular process | 2 |
| G protein-coupled receptor signaling pathway | 2 |
| chemokine binding | 2 |
| endosome | 2 |
| response to chemical | 1 |
| taxis | 1 |
| immune system process | 1 |
| response to stimulus | 1 |
| G protein-coupled receptor activity | 1 |
| signal transduction | 1 |
| regulation of biological quality | 1 |
| intracellular signaling cassette | 1 |
| chemotaxis | 1 |
| cell migration | 1 |
| cellular response to chemical stimulus | 1 |
| cell communication | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| transport | 1 |
| cytokine-mediated signaling pathway | 1 |
| cellular response to chemokine | 1 |
| G protein-coupled chemoattractant receptor activity | 1 |
| cytokine receptor activity | 1 |
| chemokine-mediated signaling pathway | 1 |
| cargo receptor activity | 1 |
| chemokine receptor activity | 1 |
| C-C chemokine binding | 1 |
| transmembrane signaling receptor activity | 1 |
| binding | 1 |
| cytokine binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| plasma membrane | 1 |
| cell surface | 1 |
| side of membrane | 1 |
| endomembrane system | 1 |
| cytoplasmic vesicle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1006 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ACKR4 | CCL27 | Q9Y4X3 | 998 |
| ACKR4 | CCL21 | O00585 | 997 |
| ACKR4 | CCL25 | O15444 | 995 |
| ACKR4 | CCL19 | Q99731 | 992 |
| ACKR4 | CXCL13 | O43927 | 990 |
| ACKR4 | CCL17 | Q92583 | 978 |
| ACKR4 | CCL22 | O00626 | 940 |
| ACKR4 | CCL5 | P13501 | 938 |
| ACKR4 | CCL20 | P78556 | 928 |
| ACKR4 | CXCL12 | P48061 | 858 |
| ACKR4 | CCL8 | P78388 | 816 |
| ACKR4 | MADCAM1 | Q13477 | 777 |
| ACKR4 | ACKR1 | Q16570 | 742 |
| ACKR4 | CCL2 | P13500 | 739 |
| ACKR4 | NECTIN3 | Q9NQS3 | 684 |
IntAct
5 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ACKR4 | SURF6 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ACKR4 | ATP12A | psi-mi:“MI:0915”(physical association) | 0.400 |
| ACKR4 | CDK2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ACKR4 | CXCR3 | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (8): CXCL13 (Reconstituted Complex), CCL21 (Reconstituted Complex), CCL25 (Reconstituted Complex), CCL19 (Reconstituted Complex), SURF6 (Affinity Capture-MS), ATP12A (Affinity Capture-MS), ACKR4 (Positive Genetic), CDK2 (Two-hybrid)
ESM2 similar proteins: A1A5S3, A5PLE7, B0UXR0, B5X337, F5HDK1, F5HF62, F8VQN3, O00421, O18982, O97663, P09703, P32249, P35351, P35374, P46002, P49685, P50052, P51676, P56412, P69332, P69333, Q01035, Q0II78, Q0VDU3, Q14330, Q1RMI1, Q28929, Q3T0E9, Q3U507, Q4R613, Q6IYF9, Q75ZH0, Q83207, Q89609, Q8BZR0, Q8IYL9, Q8K1Z6, Q95N03, Q96P67, Q98146
Diamond homologs: O00574, O08556, O08565, O18793, O18983, O19024, O54689, O54814, O55193, O62743, O62747, O97571, O97878, O97879, O97880, O97881, O97883, O97962, O97975, P21109, P25025, P25930, P32246, P32248, P35343, P35344, P35350, P35407, P41597, P47774, P49682, P51677, P51678, P51679, P51680, P51681, P51683, P51684, P51686, P56439
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| CCL19 | “up-regulates activity” | ACKR4 | binding |
| CCL21 | “up-regulates activity” | ACKR4 | binding |
| CCL25 | “up-regulates activity” | ACKR4 | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
1 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 1 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
721 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:132597916:T:G | donor_gain | 1.0000 |
| 3:132603221:ACACT:A | donor_loss | 1.0000 |
| 3:132603222:CACTC:C | donor_loss | 1.0000 |
| 3:132603223:ACTCA:A | donor_loss | 1.0000 |
| 3:132603224:CTCA:C | donor_loss | 1.0000 |
| 3:132603225:TCACC:T | donor_loss | 1.0000 |
| 3:132603226:CA:C | donor_loss | 1.0000 |
| 3:132603227:A:AC | donor_gain | 1.0000 |
| 3:132603228:C:CC | donor_gain | 1.0000 |
| 3:132603228:C:CT | donor_loss | 1.0000 |
| 3:132603228:CCA:C | donor_gain | 1.0000 |
| 3:132603324:GGTT:G | acceptor_gain | 1.0000 |
| 3:132603325:GTT:G | acceptor_gain | 1.0000 |
| 3:132603326:TT:T | acceptor_gain | 1.0000 |
| 3:132603326:TTC:T | acceptor_loss | 1.0000 |
| 3:132603327:TCTA:T | acceptor_loss | 1.0000 |
| 3:132603328:C:CC | acceptor_gain | 1.0000 |
| 3:132603328:CT:C | acceptor_loss | 1.0000 |
| 3:132603329:T:A | acceptor_loss | 1.0000 |
| 3:132618677:T:TA | donor_gain | 1.0000 |
| 3:132597916:T:TG | donor_gain | 0.9900 |
| 3:132597920:G:GG | donor_gain | 0.9900 |
| 3:132600384:TCTA:T | acceptor_loss | 0.9900 |
| 3:132600385:CTAGA:C | acceptor_loss | 0.9900 |
| 3:132600386:TAGA:T | acceptor_loss | 0.9900 |
| 3:132600387:A:AG | acceptor_gain | 0.9900 |
| 3:132600387:A:C | acceptor_loss | 0.9900 |
| 3:132600388:G:GC | acceptor_loss | 0.9900 |
| 3:132600388:G:GG | acceptor_gain | 0.9900 |
| 3:132600388:GATT:G | acceptor_gain | 0.9900 |
AlphaMissense
2317 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:132600797:A:C | S134R | 0.996 |
| 3:132600799:C:A | S134R | 0.996 |
| 3:132600799:C:G | S134R | 0.996 |
| 3:132600712:G:C | W105C | 0.995 |
| 3:132600712:G:T | W105C | 0.995 |
| 3:132600488:T:A | C31S | 0.994 |
| 3:132600489:G:C | C31S | 0.994 |
| 3:132600657:A:C | D87A | 0.994 |
| 3:132600710:T:A | W105R | 0.993 |
| 3:132600710:T:C | W105R | 0.993 |
| 3:132600731:T:A | C112S | 0.992 |
| 3:132600732:G:C | C112S | 0.992 |
| 3:132600488:T:C | C31R | 0.990 |
| 3:132600560:G:A | G55R | 0.990 |
| 3:132600560:G:C | G55R | 0.990 |
| 3:132600657:A:T | D87V | 0.990 |
| 3:132600902:A:C | S169R | 0.990 |
| 3:132600904:C:A | S169R | 0.990 |
| 3:132600904:C:G | S169R | 0.990 |
| 3:132600947:T:A | C184S | 0.990 |
| 3:132600948:G:C | C184S | 0.990 |
| 3:132601142:T:C | F249L | 0.990 |
| 3:132601144:C:A | F249L | 0.990 |
| 3:132601144:C:G | F249L | 0.990 |
| 3:132600731:T:C | C112R | 0.989 |
| 3:132600881:T:A | W162R | 0.989 |
| 3:132600881:T:C | W162R | 0.989 |
| 3:132601161:C:G | P255R | 0.989 |
| 3:132600561:G:A | G55E | 0.988 |
| 3:132600658:T:A | D87E | 0.988 |
dbSNP variants (sampled 300 via entrez): RS1000006957 (3:132598059 A>G), RS1000054354 (3:132597749 C>T), RS1000847872 (3:132599532 A>T), RS1001008231 (3:132596366 C>A), RS1001060487 (3:132596072 C>A), RS1001298017 (3:132602559 TA>T,TAA), RS1001392425 (3:132602876 C>G,T), RS1001676846 (3:132599583 G>C), RS1001729371 (3:132599273 C>T), RS1002305250 (3:132600254 A>G), RS1003852378 (3:132602702 C>T), RS1004011931 (3:132602673 A>C), RS1004354036 (3:132601480 T>C), RS1005067464 (3:132598925 T>C), RS1005424945 (3:132599196 A>C)
Disease associations
OMIM: gene MIM:606065 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006622_17 | Neonatal cytokine/chemokine levels (fetal genetic effect) | 3.000000e-10 |
| GCST010699_54 | Brain morphology (min-P) | 5.000000e-08 |
| GCST010701_80 | Cortical surface area (MOSTest) | 5.000000e-09 |
| GCST010702_60 | Subcortical volume (MOSTest) | 6.000000e-12 |
| GCST010703_12 | Brain morphology (MOSTest) | 9.000000e-10 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004747 | protein measurement |
| EFO:0007959 | fetal genotype effect measurement |
| EFO:0009416 | CCL21 measurement |
| EFO:0004346 | neuroimaging measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: gpcr — Chemokine receptors
Most potent curated ligand interactions (3 total), top 3:
| Ligand | Action | Affinity | Parameter |
|---|---|---|---|
| CCL19 | Agonist | 8.4 | pKi |
| CCL25 | Agonist | 7.6 | pKi |
| CCL21 | Agonist | 6.9 | pKi |
CTD chemical–gene interactions
10 total (human), top 10 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Progesterone | decreases expression, increases expression | 2 |
| perfluorooctanoic acid | decreases expression | 1 |
| monomethylarsonous acid | increases expression | 1 |
| incobotulinumtoxinA | increases expression | 1 |
| Folic Acid | affects expression | 1 |
| Nickel | increases expression | 1 |
| Tetrachlorodibenzodioxin | increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Valproic Acid | decreases methylation | 1 |
| Antirheumatic Agents | 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.