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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
8
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CXCL12-related disorder Benign; Likely benign rs12258838, rs17880170, rs140248633, rs183966906, rs76444314, rs749109249 RCV003980804
RCV003919092
RCV003916852
RCV003941852
RCV003979243
RCV003964695
Susceptibility to HIV infection protective; Uncertain significance rs387906400, rs749856360 RCV000009307
RCV003224402
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Achalasia Addisonianism Alacrimia syndrome Associate 36519232
Achondrogenesis type 2 Associate 31277141
Acquired Immunodeficiency Syndrome Associate 10486323, 16284526, 18391751, 20563451, 22962615
Acquired Immunodeficiency Syndrome Inhibit 21739027
Acute Coronary Syndrome Stimulate 22044645, 27463607
Acute Coronary Syndrome Associate 24834915
Acute Disease Associate 36536281
Acute Kidney Injury Associate 39512693
Acute malaria Stimulate 19346372
Adenocarcinoma Associate 20378003, 33120770