• Gene id: 6387

Gene Summary

• Gene Symbol: CXCL12   Gene   UCSC   Ensembl
• Aliases: IRH, PBSF, SCYB12, SDF1, TLSF, TPAR1
• Gene name: C-X-C motif chemokine ligand 12
• Alternate names: stromal cell-derived factor 1, chemokine (C-X-C motif) ligand 12, intercrine reduced in hepatomas, pre-B cell growth-stimulating factor,
• Gene location: 10q11.21 (44385096: 44292087)     Exons: 9     NC_000010.11
• Gene summary(Entrez): 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
• OMIM: 617649

Protein Summary

• Protein general information: P48061  
  • 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)]
  • Length: 93  
  • Mass: 10666
  • 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:

  MNAKVVVVLVLVLTALCLSDGKPVSLSYRCPCRFFESHVARANVKHLKILNTPNCALQIVARLKNNNRQVCIDPK
  LKWIQEYLEKALNKRFKM

• Structural information:
  • Interpro: IPR001811  IPR033899  IPR039813  IPR036048  
  • CDD: cd00273
  • PDB: 1A15 1QG7 1SDF 1VMC 2J7Z 2K01 2K03 2K04 2K05 2KEC 2KED 2KEE 2KOL 2N55 2NWG 2SDF 3GV3 3HP3 4LMQ 4UAI
  • PDBsum: 1A15 1QG7 1SDF 1VMC 2J7Z 2K01 2K03 2K04 2K05 2KEC 2KED 2KEE 2KOL 2N55 2NWG 2SDF 3GV3 3HP3 4LMQ 4UAI
  • DIP: 391
  • STRING: ENSP00000379140
• Other Databases: GeneCards:  CXCL12  Malacards:  CXCL12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008009	chemokine activity	IBA	molecular function
GO:0030335	positive regulation of cell migration	IBA	biological process
GO:0070098	chemokine-mediated signaling pathway	IBA	biological process
GO:0007411	axon guidance	IBA	biological process
GO:0009897	external side of plasma membrane	IBA	cellular component
GO:0045236	CXCR chemokine receptor binding	IBA	molecular function
GO:0050930	induction of positive chemotaxis	IBA	biological process
GO:0060326	cell chemotaxis	IBA	biological process
GO:0090026	positive regulation of monocyte chemotaxis	IDA	biological process
GO:0042379	chemokine receptor binding	IMP	molecular function
GO:0008009	chemokine activity	TAS	molecular function
GO:0006935	chemotaxis	TAS	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0006952	defense response	IEA	biological process
GO:0008009	chemokine activity	IEA	molecular function
GO:0070098	chemokine-mediated signaling pathway	IEA	biological process
GO:0006935	chemotaxis	IEA	biological process
GO:0006955	immune response	IEA	biological process
GO:0005125	cytokine activity	IEA	molecular function
GO:0005615	extracellular space	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0006935	chemotaxis	IEA	biological process
GO:0016032	viral process	IEA	biological process
GO:0008083	growth factor activity	IEA	molecular function
GO:0005102	signaling receptor binding	TAS	molecular function
GO:0005102	signaling receptor binding	TAS	molecular function
GO:0008009	chemokine activity	TAS	molecular function
GO:0006935	chemotaxis	TAS	biological process
GO:0006955	immune response	TAS	biological process
GO:0007155	cell adhesion	TAS	biological process
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0008015	blood circulation	TAS	biological process
GO:0006874	cellular calcium ion homeostasis	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0008064	regulation of actin polymerization or depolymerization	TAS	biological process
GO:0009615	response to virus	TAS	biological process
GO:2000406	positive regulation of T cell migration	IDA	biological process
GO:0045785	positive regulation of cell adhesion	IDA	biological process
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0007411	axon guidance	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1990478	response to ultrasound	IEA	biological process
GO:0051924	regulation of calcium ion transport	IEA	biological process
GO:0050966	detection of mechanical stimulus involved in sensory perception of pain	IEA	biological process
GO:0045666	positive regulation of neuron differentiation	IEA	biological process
GO:0033603	positive regulation of dopamine secretion	IEA	biological process
GO:0030335	positive regulation of cell migration	IEA	biological process
GO:0009612	response to mechanical stimulus	IEA	biological process
GO:0009408	response to heat	IEA	biological process
GO:0008344	adult locomotory behavior	IEA	biological process
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0001764	neuron migration	IEA	biological process
GO:0001666	response to hypoxia	IEA	biological process
GO:0050965	detection of temperature stimulus involved in sensory perception of pain	IEA	biological process
GO:0048842	positive regulation of axon extension involved in axon guidance	IEA	biological process
GO:0043434	response to peptide hormone	IEA	biological process
GO:0031100	animal organ regeneration	IEA	biological process
GO:0022029	telencephalon cell migration	IEA	biological process
GO:0009314	response to radiation	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0001938	positive regulation of endothelial cell proliferation	IEA	biological process
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0090280	positive regulation of calcium ion import	TAS	biological process
GO:0045236	CXCR chemokine receptor binding	IDA	molecular function
GO:0008009	chemokine activity	IMP	molecular function
GO:1990869	cellular response to chemokine	IMP	biological process
GO:0070098	chemokine-mediated signaling pathway	IDA	biological process
GO:1902230	negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage	IDA	biological process
GO:2000669	negative regulation of dendritic cell apoptotic process	IDA	biological process
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0038146	chemokine (C-X-C motif) ligand 12 signaling pathway	IMP	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0008009	chemokine activity	IDA	molecular function
GO:0060326	cell chemotaxis	IDA	biological process
GO:1903237	negative regulation of leukocyte tethering or rolling	IDA	biological process
GO:0033622	integrin activation	IDA	biological process
GO:0005178	integrin binding	IDA	molecular function
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa04060	Cytokine-cytokine receptor interaction
hsa04810	Regulation of actin cytoskeleton
hsa05163	Human cytomegalovirus infection
hsa04062	Chemokine signaling pathway
hsa04360	Axon guidance
hsa04670	Leukocyte transendothelial migration
hsa04064	NF-kappa B signaling pathway
hsa04061	Viral protein interaction with cytokine and cytokine receptor
hsa05323	Rheumatoid arthritis
hsa04672	Intestinal immune network for IgA production

Diseases

Associated diseases	References
Diabetic angiopathy	PMID:16723689
Breast carcinoma	PMID:15978329
Insulinoma	PMID:19013212
Diabetic retinopathy	PMID:15630447
type 2 diabetes mellitus	PMID:18451752
type 1 diabetes mellitus	PMID:14522095
type 1 diabetes mellitus	PMID:11334429
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray