SDF4
gene geneOn this page
Also known as Cab45
Summary
SDF4 (stromal cell derived factor 4, HGNC:24188) is a protein-coding gene on chromosome 1p36.33, encoding 45 kDa calcium-binding protein (Q9BRK5). May regulate calcium-dependent activities in the endoplasmic reticulum lumen or post-ER compartment.
This gene encodes a stromal cell derived factor that is a member of the CREC protein family. The encoded protein contains six EF-hand motifs and calcium-binding motifs. This protein localizes to the Golgi lumen and may be involved in regulating calcium dependent cellular activities.
Source: NCBI Gene 51150 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 89 total
- Druggable target: yes
- MANE Select transcript:
NM_016176
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24188 |
| Approved symbol | SDF4 |
| Name | stromal cell derived factor 4 |
| Location | 1p36.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | Cab45 |
| Ensembl gene | ENSG00000078808 |
| Ensembl biotype | protein_coding |
| OMIM | 614282 |
| Entrez | 51150 |
Gene structure
Transcript identifiers
Ensembl transcripts: 21 — 17 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000263741, ENST00000360001, ENST00000403997, ENST00000459994, ENST00000465727, ENST00000478938, ENST00000494748, ENST00000900948, ENST00000900949, ENST00000900950, ENST00000900951, ENST00000900952, ENST00000900953, ENST00000900954, ENST00000900955, ENST00000921530, ENST00000921531, ENST00000921532, ENST00000921533, ENST00000969251, ENST00000969252
RefSeq mRNA: 2 — MANE Select: NM_016176
NM_016176, NM_016547
CCDS: CCDS12, CCDS30553
Canonical transcript exons
ENST00000360001 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000869639 | 1223244 | 1223357 |
| ENSE00000869640 | 1223832 | 1223968 |
| ENSE00001131112 | 1218769 | 1218927 |
| ENSE00001480105 | 1216931 | 1217688 |
| ENSE00001945650 | 1231892 | 1232001 |
| ENSE00003459646 | 1228468 | 1228946 |
| ENSE00003628628 | 1218458 | 1218633 |
Expression profiles
Bgee: expression breadth ubiquitous, 279 present calls, max score 99.24.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 99.8581 / max 796.8220, expressed in 1825 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 9734 | 80.3108 | 1825 |
| 9737 | 4.5528 | 1624 |
| 9736 | 4.3465 | 1640 |
| 9733 | 3.7074 | 1578 |
| 201310 | 3.6870 | 1589 |
| 9735 | 2.3581 | 1335 |
| 9732 | 0.5873 | 312 |
| 9731 | 0.3081 | 132 |
Top tissues by expression
291 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| stromal cell of endometrium | CL:0002255 | 99.24 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 98.27 | gold quality |
| cartilage tissue | UBERON:0002418 | 98.05 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 97.98 | gold quality |
| cerebellar cortex | UBERON:0002129 | 97.96 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 97.94 | gold quality |
| thoracic aorta | UBERON:0001515 | 97.91 | gold quality |
| ascending aorta | UBERON:0001496 | 97.90 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 97.88 | gold quality |
| cardia of stomach | UBERON:0001162 | 97.84 | gold quality |
| right atrium auricular region | UBERON:0006631 | 97.84 | gold quality |
| right coronary artery | UBERON:0001625 | 97.82 | gold quality |
| cardiac atrium | UBERON:0002081 | 97.77 | gold quality |
| apex of heart | UBERON:0002098 | 97.71 | gold quality |
| ileal mucosa | UBERON:0000331 | 97.69 | gold quality |
| cerebellum | UBERON:0002037 | 97.58 | gold quality |
| transverse colon | UBERON:0001157 | 97.50 | gold quality |
| body of stomach | UBERON:0001161 | 97.49 | gold quality |
| trachea | UBERON:0003126 | 97.44 | gold quality |
| pylorus | UBERON:0001166 | 97.43 | gold quality |
| aorta | UBERON:0000947 | 97.41 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 97.37 | gold quality |
| coronary artery | UBERON:0001621 | 97.33 | gold quality |
| nipple | UBERON:0002030 | 97.33 | gold quality |
| fundus of stomach | UBERON:0001160 | 97.31 | gold quality |
| parotid gland | UBERON:0001831 | 97.31 | gold quality |
| left coronary artery | UBERON:0001626 | 97.30 | gold quality |
| endocervix | UBERON:0000458 | 97.29 | gold quality |
| small intestine | UBERON:0002108 | 97.28 | gold quality |
| right ovary | UBERON:0002118 | 97.26 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
34 targeting SDF4, 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-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AK | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AM-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AP-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548AQ-5P | 99.94 | 71.34 | 3426 |
| HSA-MIR-548AR-5P | 99.94 | 71.28 | 3515 |
| HSA-MIR-548AS-5P | 99.94 | 71.22 | 3482 |
| HSA-MIR-548AU-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AY-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548B-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548BB-5P | 99.94 | 71.27 | 3509 |
| HSA-MIR-548C-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548D-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548H-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548I | 99.94 | 71.25 | 3481 |
| HSA-MIR-548J-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548O-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548W | 99.94 | 71.24 | 3488 |
| HSA-MIR-548Y | 99.94 | 71.28 | 3514 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-765 | 99.84 | 68.24 | 2442 |
| HSA-MIR-498-5P | 99.76 | 69.64 | 1807 |
| HSA-MIR-11181-3P | 99.75 | 66.38 | 2205 |
| HSA-MIR-6512-3P | 99.65 | 66.07 | 1468 |
| HSA-MIR-6720-5P | 99.65 | 66.22 | 1459 |
| HSA-MIR-5003-5P | 99.61 | 69.13 | 1624 |
Literature-anchored findings (GeneRIF, showing 11)
- In a yeast two-hybrid screen the EF-hand Ca(2+)-binding protein Cab45 was identified as an interaction partner of Munc18b. (PMID:17442889)
- SDF-2, SDF-4 and SDF-5 are expressed in mammary tissues and cells and that a reduced level of SDF-2 and SDF-4 are associated with a poor clinical outcome. (PMID:19513569)
- Calcium is required for the retention of Cab45 in the Golgi membranes, where Cab45 binds secretory cargo in a calcium-dependent reaction. (PMID:23266954)
- Cab45S, a novel regulator of GRP78/BiP, suppresses endoplasmic reticulum stress-induced IRE1 activation and apoptosis by binding to and elevating GRP78/BiP, and has a role in the inhibition of ER stress-induced apoptosis. (PMID:24810055)
- The obtained results indicate that the changes in gene expression in bone marrow progenitor cells can be involved into space flight-induced osteopenia. (PMID:25509878)
- Data reveal that the ability of Cab45S to inhibit SERCA2b activity is crucial for its role as a modulator of cell proliferation and tumor growth. (PMID:25772237)
- Ca(2+)-dependent changes in Cab45 mediate sorting of specific cargo molecules at the trans-Golgi network. (PMID:27138253)
- Fam20C regulates protein secretion by Cab45 phosphorylation. (PMID:32422653)
- SDF4 Is a Prognostic Factor for 28-Days Mortality in Patients With Sepsis via Negatively Regulating ER Stress. (PMID:34326834)
- Cab45 deficiency leads to the mistargeting of progranulin and prosaposin and aberrant lysosomal positioning. (PMID:36398980)
- LINC00173 facilitates tumor progression by stimulating RAB1B-mediated PA2G4 and SDF4 secretion in nasopharyngeal carcinoma. (PMID:36606322)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | sdf4 | ENSDARG00000070682 |
| mus_musculus | Sdf4 | ENSMUSG00000029076 |
| rattus_norvegicus | Sdf4 | ENSRNOG00000019981 |
| drosophila_melanogaster | myd | FBGN0051475 |
| caenorhabditis_elegans | WBGENE00016965 |
Paralogs (4): RCN1 (ENSG00000049449), RCN2 (ENSG00000117906), CALU (ENSG00000128595), RCN3 (ENSG00000142552)
Protein
Protein identifiers
45 kDa calcium-binding protein — Q9BRK5 (reviewed: Q9BRK5)
Alternative names: Stromal cell-derived factor 4
All UniProt accessions (4): A0A5F9UJX7, A0A5F9UP49, G3V1E2, H0Y3T6
UniProt curated annotations — full annotation on UniProt →
Function. May regulate calcium-dependent activities in the endoplasmic reticulum lumen or post-ER compartment. Isoform 5 may be involved in the exocytosis of zymogens by pancreatic acini.
Subunit / interactions. Isoform 5 interacts with STXBP1; the interaction is enhanced in presence of calcium. Isoform 5 interacts with STX3.
Subcellular location. Golgi apparatus lumen Cytoplasm. Cell membrane. Cell projection. Bleb.
Tissue specificity. Ubiquitous. Isoform 5 is expressed in pancreas.
Domain organisation. Binds calcium via its EF-hands. Isoform 5 binds calcium.
Similarity. Belongs to the CREC family.
Isoforms (6)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BRK5-1 | 1, Cab45a, Cab45-G | yes |
| Q9BRK5-2 | 2 | |
| Q9BRK5-3 | 3 | |
| Q9BRK5-4 | 4 | |
| Q9BRK5-5 | 5, Cab45b, Cab45-C | |
| Q9BRK5-6 | 6 |
RefSeq proteins (2): NP_057260, NP_057631 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002048 | EF_hand_dom | Domain |
| IPR011992 | EF-hand-dom_pair | Homologous_superfamily |
| IPR018247 | EF_Hand_1_Ca_BS | Binding_site |
| IPR027240 | CAB45_EFh | Domain |
Pfam: PF13202, PF13499
UniProt features (69 total): binding site 26, sequence conflict 16, splice variant 7, domain 6, modified residue 5, mutagenesis site 3, sequence variant 2, signal peptide 1, chain 1, glycosylation site 1, region of interest 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BRK5-F1 | 81.03 | 0.60 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (26): 113; 115; 117; 122; 150; 152; 154; 156; 161; 213; 220; 246 …
Post-translational modifications (5): 99, 193, 217, 265, 299
Glycosylation sites (1): 40
Mutagenesis-validated functional residues (3):
| Position | Phenotype |
|---|---|
| 257 | does not affect calcium-binding. |
| 302 | inhibits calcium-binding. |
| 338 | does not affect calcium-binding. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 175 (showing top):
GOBP_HINDBRAIN_DEVELOPMENT, GOBP_RESPONSE_TO_ETHANOL, GOBP_METENCEPHALON_DEVELOPMENT, GOBP_CELLULAR_COMPONENT_MAINTENANCE, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_UV_PROTECTION, GOBP_EXOCYTOSIS, GOBP_CELL_JUNCTION_ORGANIZATION, GOBP_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_RESPONSE_TO_UV, GOBP_SECRETION, GOBP_RESPONSE_TO_RADIATION, GOBP_CALCIUM_ION_REGULATED_EXOCYTOSIS, GOBP_FAT_CELL_DIFFERENTIATION, GOBP_RESPONSE_TO_ABIOTIC_STIMULUS
GO Biological Process (7): UV protection (GO:0009650), calcium-ion regulated exocytosis (GO:0017156), cerebellum development (GO:0021549), fat cell differentiation (GO:0045444), response to ethanol (GO:0045471), zymogen granule exocytosis (GO:0070625), maintenance of synapse structure (GO:0099558)
GO Molecular Function (3): calcium ion binding (GO:0005509), identical protein binding (GO:0042802), metal ion binding (GO:0046872)
GO Cellular Component (9): cytoplasm (GO:0005737), late endosome (GO:0005770), endoplasmic reticulum (GO:0005783), Golgi lumen (GO:0005796), plasma membrane (GO:0005886), membrane (GO:0016020), bleb (GO:0032059), extracellular exosome (GO:0070062), Golgi apparatus (GO:0005794)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| cytoplasm | 2 |
| endomembrane system | 2 |
| intracellular membrane-bounded organelle | 2 |
| response to UV | 1 |
| regulated exocytosis | 1 |
| metencephalon development | 1 |
| anatomical structure development | 1 |
| cell differentiation | 1 |
| response to alcohol | 1 |
| calcium-ion regulated exocytosis | 1 |
| cell junction maintenance | 1 |
| synapse organization | 1 |
| metal ion binding | 1 |
| protein binding | 1 |
| cation binding | 1 |
| intracellular anatomical structure | 1 |
| endosome | 1 |
| Golgi apparatus | 1 |
| intracellular organelle lumen | 1 |
| membrane | 1 |
| cell periphery | 1 |
| plasma membrane bounded cell projection | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
1520 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SDF4 | S100B | P04271 | 937 |
| SDF4 | CALB1 | P05937 | 884 |
| SDF4 | PVALB | P20472 | 845 |
| SDF4 | CALM1 | P02593 | 834 |
| SDF4 | CALML4 | Q96GE6 | 833 |
| SDF4 | CALML3 | P27482 | 832 |
| SDF4 | CALML5 | Q9NZT1 | 832 |
| SDF4 | CALML6 | Q8TD86 | 823 |
| SDF4 | CALB2 | P22676 | 801 |
| SDF4 | S100G | P29377 | 792 |
| SDF4 | S100A4 | P26447 | 722 |
| SDF4 | LYZL1 | Q6UWQ5 | 721 |
| SDF4 | S100A6 | P06703 | 720 |
| SDF4 | LYZ | P00695 | 690 |
| SDF4 | CASQ1 | P31415 | 658 |
IntAct
126 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| IFT27 | IFT56 | psi-mi:“MI:0914”(association) | 0.690 |
| SDF4 | ACAD11 | psi-mi:“MI:0914”(association) | 0.640 |
| USP12 | PHLPP1 | psi-mi:“MI:0914”(association) | 0.570 |
| CASP6 | SDF4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SDF4 | LAMP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SDF4 | SH3GLB1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PRPF40A | SDF4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ILK | HAX1 | psi-mi:“MI:0914”(association) | 0.530 |
| YWHAZ | BLTP3B | psi-mi:“MI:0914”(association) | 0.530 |
| SDF4 | GTPBP6 | psi-mi:“MI:0914”(association) | 0.530 |
| ILK | ILVBL | psi-mi:“MI:0914”(association) | 0.530 |
| ASCC1 | TRIP4 | psi-mi:“MI:0914”(association) | 0.530 |
| env | PSMD11 | psi-mi:“MI:0914”(association) | 0.460 |
| GPC1 | SNAP23 | psi-mi:“MI:0915”(physical association) | 0.400 |
| GPC1 | GANAB | psi-mi:“MI:0915”(physical association) | 0.400 |
| MOK | SDF4 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SDF4 | RPA2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SDF4 | NR1I2 | psi-mi:“MI:0915”(physical association) | 0.370 |
BioGRID (245): SDF4 (Affinity Capture-MS), SDF4 (Affinity Capture-MS), SDF4 (Affinity Capture-MS), SDF4 (Affinity Capture-MS), ACAD11 (Affinity Capture-MS), IQGAP2 (Affinity Capture-MS), MYO9B (Affinity Capture-MS), GPRIN1 (Affinity Capture-MS), ABCB7 (Affinity Capture-MS), SMC1A (Affinity Capture-MS), SMC3 (Affinity Capture-MS), RICTOR (Affinity Capture-MS), GTPBP6 (Affinity Capture-MS), LRFN1 (Affinity Capture-MS), RGPD5 (Affinity Capture-MS)
ESM2 similar proteins: A0A1S4GYH9, A0A7J6K452, A5YVD9, A8XEZ1, A9LKE4, A9LKF6, B9FS74, D0Z5N4, E2AX35, H2KZB2, H2KZH5, O02217, O55159, P02592, P07164, P14725, P16422, P25027, P34542, P39047, P39931, P41045, P41048, P41049, P85831, Q06BR2, Q08121, Q08629, Q10004, Q1WER1, Q3HRN7, Q3T0L5, Q3ZBZ1, Q4R585, Q5BKL9, Q5EP01, Q5F381, Q5ZKE5, Q61112, Q62288
Diamond homologs: A5YVD9, Q3ZBZ1, Q4R585, Q5BKL9, Q5ZKE5, Q61112, Q66JA6, Q7ZUC2, Q91ZS3, Q9BRK5, J3S9D9, B5X186
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| FAM20C | “up-regulates activity” | SDF4 | phosphorylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 134 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.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| G1/S transition of mitotic cell cycle | 7 | 12.7× | 1e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
89 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 69 |
| Likely benign | 5 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1875 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:1217684:TAGCT:T | acceptor_gain | 1.0000 |
| 1:1217685:AGCT:A | acceptor_gain | 1.0000 |
| 1:1217686:GCTCT:G | acceptor_loss | 1.0000 |
| 1:1217687:CT:C | acceptor_gain | 1.0000 |
| 1:1217688:TCTGC:T | acceptor_loss | 1.0000 |
| 1:1217689:C:CC | acceptor_gain | 1.0000 |
| 1:1217689:CTGCG:C | acceptor_loss | 1.0000 |
| 1:1217690:T:C | acceptor_loss | 1.0000 |
| 1:1218452:GCTCA:G | donor_loss | 1.0000 |
| 1:1218453:CTCA:C | donor_loss | 1.0000 |
| 1:1218457:C:CT | donor_loss | 1.0000 |
| 1:1218634:C:CC | acceptor_gain | 1.0000 |
| 1:1218727:T:TA | donor_gain | 1.0000 |
| 1:1223242:A:AC | donor_gain | 1.0000 |
| 1:1223242:ACTTT:A | donor_gain | 1.0000 |
| 1:1223243:C:CC | donor_gain | 1.0000 |
| 1:1223243:CTTT:C | donor_gain | 1.0000 |
| 1:1223243:CTTTC:C | donor_gain | 1.0000 |
| 1:1223246:T:A | donor_gain | 1.0000 |
| 1:1223826:CAGTA:C | donor_loss | 1.0000 |
| 1:1223828:GTA:G | donor_loss | 1.0000 |
| 1:1223829:TACC:T | donor_loss | 1.0000 |
| 1:1223830:A:AG | donor_loss | 1.0000 |
| 1:1223830:ACCGT:A | donor_gain | 1.0000 |
| 1:1223831:C:CA | donor_loss | 1.0000 |
| 1:1223831:CCGT:C | donor_gain | 1.0000 |
| 1:1223831:CCGTC:C | donor_gain | 1.0000 |
| 1:1223834:T:TA | donor_gain | 1.0000 |
| 1:1223835:C:A | donor_gain | 1.0000 |
| 1:1223873:T:A | donor_gain | 1.0000 |
AlphaMissense
2400 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:1217646:C:G | A319P | 0.999 |
| 1:1218512:A:C | F286L | 0.998 |
| 1:1218512:A:T | F286L | 0.998 |
| 1:1218514:A:G | F286L | 0.998 |
| 1:1218596:G:C | F258L | 0.998 |
| 1:1218596:G:T | F258L | 0.998 |
| 1:1218598:A:G | F258L | 0.998 |
| 1:1218895:A:G | W204R | 0.998 |
| 1:1218895:A:T | W204R | 0.998 |
| 1:1217624:G:T | A326D | 0.997 |
| 1:1218597:A:C | F258C | 0.997 |
| 1:1218597:A:G | F258S | 0.997 |
| 1:1223344:C:A | W159C | 0.997 |
| 1:1223344:C:G | W159C | 0.997 |
| 1:1217515:A:C | F362L | 0.996 |
| 1:1217515:A:T | F362L | 0.996 |
| 1:1217517:A:G | F362L | 0.996 |
| 1:1217625:C:G | A326P | 0.996 |
| 1:1218477:A:T | V298E | 0.996 |
| 1:1218771:A:G | L245P | 0.996 |
| 1:1218893:C:A | W204C | 0.996 |
| 1:1218893:C:G | W204C | 0.996 |
| 1:1223346:A:G | W159R | 0.996 |
| 1:1223346:A:T | W159R | 0.996 |
| 1:1217564:A:G | F346S | 0.995 |
| 1:1217600:A:G | L334P | 0.995 |
| 1:1217645:G:T | A319D | 0.995 |
| 1:1218462:A:G | L303P | 0.995 |
| 1:1218513:A:G | F286S | 0.995 |
| 1:1218524:T:A | R282S | 0.995 |
dbSNP variants (sampled 300 via entrez): RS1000080973 (1:1223372 C>T), RS1000339484 (1:1219793 C>T), RS1000435325 (1:1223003 C>G,T), RS1000779379 (1:1231531 A>C), RS1000780878 (1:1219631 C>T), RS1000840121 (1:1222050 C>A), RS1000992685 (1:1225796 G>A,T), RS1001090982 (1:1229337 G>C), RS1001121938 (1:1229196 T>C,G), RS1001133130 (1:1217138 T>TC), RS1001317189 (1:1225981 C>T), RS1001477299 (1:1226405 C>A,T), RS1001491240 (1:1228381 C>A,T), RS1001635716 (1:1233580 C>G,T), RS1001910456 (1:1225748 A>G)
Disease associations
OMIM: gene MIM:614282 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005537_122 | Chronic inflammatory diseases (ankylosing spondylitis, Crohn’s disease, psoriasis, primary sclerosing cholangitis, ulcerative colitis) (pleiotropy) | 2.000000e-10 |
| GCST006988_199 | Blond vs. brown/black hair color | 2.000000e-09 |
| GCST007932_105 | Medication use (thyroid preparations) | 3.000000e-08 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0003924 | hair color |
| EFO:0009933 | Thyroid preparation use measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (2): CHEMBL4742317 (PROTEIN-PROTEIN INTERACTION), CHEMBL6067531 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 6.29 | Kd | 518.7 | nM | CHEMBL3752910 |
| 6.29 | ED50 | 518.7 | nM | CHEMBL3752910 |
PubChem BioAssay actives
1 with measured affinity, of 3 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149932: Binding affinity to human SDF4 incubated for 45 mins by Kinobead based pull down assay | kd | 0.5187 | uM |
CTD chemical–gene interactions
27 total (human), top 27 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation, affects expression | 2 |
| Ozone | affects cotreatment, increases oxidation, increases abundance, affects expression | 2 |
| Tobacco Smoke Pollution | affects expression, decreases methylation | 2 |
| Valproic Acid | increases methylation, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| TAK-243 | increases sumoylation | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| bisphenol A | increases expression | 1 |
| salinomycin | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| ICG 001 | decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | decreases expression | 1 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 1 |
| Ivermectin | decreases expression | 1 |
| Lead | decreases expression | 1 |
| Methotrexate | affects response to substance | 1 |
| Silicon Dioxide | decreases methylation | 1 |
| Smoke | decreases expression | 1 |
| Cadmium Chloride | decreases expression, increases expression, increases methylation | 1 |
| Volatile Organic Compounds | affects cotreatment, increases oxidation | 1 |
ChEMBL screening assays
2 unique, capped per target: 2 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4713769 | Binding | Protac activity at CRBN/SDF4 in human BxPC-3 cells assessed as SDF4 degradation incubated for 16 hrs by proteomic analysis | Discovery of a Napabucasin PROTAC as an Effective Degrader of the E3 Ligase ZFP91. — J Med Chem |
Cellosaurus cell lines
2 cell lines: 1 transformed cell line, 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B3GK | Abcam HEK293T SDF4 KO | Transformed cell line | Female |
| CVCL_E2JR | HAP1 SDF4 (-) | 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.