Gene Gene information from NCBI Gene database.
Entrez ID 6387
Gene name C-X-C motif chemokine ligand 12
Gene symbol CXCL12
Synonyms (NCBI Gene)
IRHPBSFSCYB12SDF1TLSFTPAR1
Chromosome 10
Chromosome location 10q11.21
Summary This antimicrobial gene encodes a stromal cell-derived alpha chemokine member of the intercrine family. The encoded protein functions as the ligand for the G-protein coupled receptor, chemokine (C-X-C motif) receptor 4, and plays a role in many diverse ce
miRNA miRNA information provided by mirtarbase database.
818
miRTarBase ID miRNA Experiments Reference
MIRT004980 hsa-miR-31-5p Luciferase reporter assayqRT-PCR 19524507
MIRT001776 hsa-miR-23a-3p Luciferase reporter assay 14697198
MIRT007380 hsa-miR-126-5p Luciferase reporter assay 23396050
MIRT007381 hsa-miR-126-3p Luciferase reporter assay 23396050
MIRT001776 hsa-miR-23a-3p Reporter assay;Other 14697198
Transcription factors Transcription factors information provided by TRRUST V2 database.
6
Transcription factor Regulation Reference
ESR1 Unknown 18563714
FOXF2 Activation 19562724
HIF1A Unknown 12384916
NFKB1 Activation 17530707
RELA Activation 17530707
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
78
GO ID Ontology Definition Evidence Reference
GO:0001666 Process Response to hypoxia IEA
GO:0001764 Process Neuron migration IEA
GO:0001938 Process Positive regulation of endothelial cell proliferation IEA
GO:0005102 Function Signaling receptor binding TAS 10358157, 10438529
GO:0005125 Function Cytokine activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600835 10672 ENSG00000107562
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P48061
Protein name Stromal cell-derived factor 1 (SDF-1) (hSDF-1) (C-X-C motif chemokine 12) (Intercrine reduced in hepatomas) (IRH) (hIRH) (Pre-B cell growth-stimulating factor) (PBSF) [Cleaved into: SDF-1-beta(3-72); SDF-1-alpha(3-67)]
Protein function Chemoattractant active on T-lymphocytes and monocytes but not neutrophils. Activates the C-X-C chemokine receptor CXCR4 to induce a rapid and transient rise in the level of intracellular calcium ions and chemotaxis. SDF-1-beta(3-72) and SDF-1-al
PDB 1A15 , 1QG7 , 1SDF , 1VMC , 2J7Z , 2K01 , 2K03 , 2K04 , 2K05 , 2KEC , 2KED , 2KEE , 2KOL , 2N55 , 2NWG , 2SDF , 3GV3 , 3HP3 , 4LMQ , 4UAI , 6SHR , 7SK3 , 7SK4 , 7SK5 , 7SK6 , 7SK7 , 7SK8 , 8K3Z , 8U4O
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00048 IL8 28 86 Small cytokines (intecrine/chemokine), interleukin-8 like Domain
Tissue specificity TISSUE SPECIFICITY: Isoform Alpha and isoform Beta are ubiquitously expressed, with highest levels detected in liver, pancreas and spleen. Isoform Gamma is mainly expressed in heart, with weak expression detected in several other tissues. Isoform Delta, i
Sequence
Sequence length 93
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cytokine-cytokine receptor interaction
Viral protein interaction with cytokine and cytokine receptor
Chemokine signaling pathway
NF-kappa B signaling pathway
Axon guidance
Leukocyte transendothelial migration
Intestinal immune network for IgA production
Regulation of actin cytoskeleton
Human cytomegalovirus infection
Pathways in cancer
Rheumatoid arthritis
  Nuclear signaling by ERBB4
Signaling by ROBO receptors
Chemokine receptors bind chemokines
G alpha (i) signalling events
Estrogen-dependent gene expression
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
22
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BREAST NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC PERIODONTITIS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Coronary Syndrome Coronary Syndrome BEFREE 22044645, 31559838
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 30365110
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 23653000, 25072364, 30453100, 31186715
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 28755135
★☆☆☆☆
Found in Text Mining only
Adamantinous Craniopharyngioma Adamantinous Craniopharyngioma BEFREE 24934367
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 17082613
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 20378003, 21584490
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 27212031
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 26338423
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 20462600
★☆☆☆☆
Found in Text Mining only