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Gene id

6387

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

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 cellular functions, including embryogenesis, immune surveillance, inflammation response, tissue homeostasis, and tumor growth and metastasis. Mutations in this gene are associated with resistance to human immunodeficiency virus type 1 infections. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]

OMIM

600835

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: 10,666

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

Motifs	Receptor activation(22-23)
Interpro:	IPR001811 IPR033899
Pfam:	PF00048
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
MINT:	6491347
STRING:	ENSP00000379140;

Other Databases

GeneCards: CXCL12; Malacards: CXCL12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001666	response to hypoxia	IEA	biological_process
GO:0001764	neuron migration	IEA	biological_process
GO:0001938	positive regulation of en dothelial cell proliferat ion	IEA	biological_process
GO:0005102	receptor binding	TAS	molecular_function
GO:0005102	receptor binding	TAS	molecular_function
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:0005615	extracellular space	IEA	cellular_component
GO:0006874	cellular calcium ion home ostasis	TAS	biological_process
GO:0006935	chemotaxis	TAS	biological_process
GO:0006955	immune response	IEA	biological_process
GO:0007155	cell adhesion	TAS	biological_process
GO:0007165	signal transduction	TAS	biological_process
GO:0007186	G-protein coupled recepto r signaling pathway	TAS	biological_process
GO:0007411	axon guidance	IBA	biological_process
GO:0008009	chemokine activity	TAS	molecular_function
GO:0008009	chemokine activity	IDA	molecular_function
GO:0008015	blood circulation	TAS	biological_process
GO:0008064	regulation of actin polym erization or depolymeriza tion	TAS	biological_process
GO:0008083	growth factor activity	IEA	molecular_function
GO:0008344	adult locomotory behavior	IEA	biological_process
GO:0009314	response to radiation	IEA	biological_process
GO:0009408	response to heat	IEA	biological_process
GO:0009612	response to mechanical st imulus	IEA	biological_process
GO:0009615	response to virus	TAS	biological_process
GO:0009897	external side of plasma m embrane	IBA	cellular_component
GO:0022029	telencephalon cell migrat ion	IEA	biological_process
GO:0031100	animal organ regeneration	IEA	biological_process
GO:0033603	positive regulation of do pamine secretion	IEA	biological_process
GO:0042056	chemoattractant activity	IBA	molecular_function
GO:0042379	chemokine receptor bindin g	IMP	molecular_function
GO:0043434	response to peptide hormo ne	IEA	biological_process
GO:0045236	CXCR chemokine receptor b inding	IDA	molecular_function
GO:0045785	positive regulation of ce ll adhesion	IDA	biological_process
GO:0048842	positive regulation of ax on extension involved in axon guidance	IEA	biological_process
GO:0050918	positive chemotaxis	IEA	biological_process
GO:0050930	induction of positive che motaxis	IBA	biological_process
GO:0060326	cell chemotaxis	IDA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070098	chemokine-mediated signal ing pathway	IDA	biological_process
GO:0090026	positive regulation of mo nocyte chemotaxis	IDA	biological_process
GO:0090280	positive regulation of ca lcium ion import	TAS	biological_process
GO:1902230	negative regulation of in trinsic apoptotic signali ng pathway in response to DNA damage	IDA	biological_process
GO:1903237	negative regulation of le ukocyte tethering or roll ing	IDA	biological_process
GO:2000107	negative regulation of le ukocyte apoptotic process	IDA	biological_process
GO:2000406	positive regulation of T cell migration	IDA	biological_process
GO:0001666	response to hypoxia	IEA	biological_process
GO:0001764	neuron migration	IEA	biological_process
GO:0001938	positive regulation of en dothelial cell proliferat ion	IEA	biological_process
GO:0005102	receptor binding	TAS	molecular_function
GO:0005102	receptor binding	TAS	molecular_function
GO:0005125	cytokine activity	IEA	molecular_function
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	IEA	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:0005615	extracellular space	IEA	cellular_component
GO:0005615	extracellular space	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0006874	cellular calcium ion home ostasis	TAS	biological_process
GO:0006935	chemotaxis	IEA	biological_process
GO:0006935	chemotaxis	TAS	biological_process
GO:0006935	chemotaxis	TAS	biological_process
GO:0006955	immune response	IEA	biological_process
GO:0006955	immune response	TAS	biological_process
GO:0007155	cell adhesion	TAS	biological_process
GO:0007165	signal transduction	TAS	biological_process
GO:0007186	G-protein coupled recepto r signaling pathway	TAS	biological_process
GO:0007411	axon guidance	IBA	biological_process
GO:0007420	brain development	IEA	biological_process
GO:0008009	chemokine activity	IEA	molecular_function
GO:0008009	chemokine activity	TAS	molecular_function
GO:0008009	chemokine activity	TAS	molecular_function
GO:0008009	chemokine activity	IDA	molecular_function
GO:0008015	blood circulation	TAS	biological_process
GO:0008064	regulation of actin polym erization or depolymeriza tion	TAS	biological_process
GO:0008083	growth factor activity	IEA	molecular_function
GO:0008284	positive regulation of ce ll proliferation	IEA	biological_process
GO:0008344	adult locomotory behavior	IEA	biological_process
GO:0009314	response to radiation	IEA	biological_process
GO:0009408	response to heat	IEA	biological_process
GO:0009612	response to mechanical st imulus	IEA	biological_process
GO:0009615	response to virus	TAS	biological_process
GO:0009897	external side of plasma m embrane	IBA	cellular_component
GO:0022029	telencephalon cell migrat ion	IEA	biological_process
GO:0030335	positive regulation of ce ll migration	IEA	biological_process
GO:0031100	animal organ regeneration	IEA	biological_process
GO:0033603	positive regulation of do pamine secretion	IEA	biological_process
GO:0042056	chemoattractant activity	IBA	molecular_function
GO:0042379	chemokine receptor bindin g	IMP	molecular_function
GO:0043434	response to peptide hormo ne	IEA	biological_process
GO:0045236	CXCR chemokine receptor b inding	IDA	molecular_function
GO:0045666	positive regulation of ne uron differentiation	IEA	biological_process
GO:0045785	positive regulation of ce ll adhesion	IDA	biological_process
GO:0048842	positive regulation of ax on extension involved in axon guidance	IEA	biological_process
GO:0050918	positive chemotaxis	IEA	biological_process
GO:0050930	induction of positive che motaxis	IBA	biological_process
GO:0051924	regulation of calcium ion transport	IEA	biological_process
GO:0060326	cell chemotaxis	IDA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070098	chemokine-mediated signal ing pathway	IDA	biological_process
GO:0090026	positive regulation of mo nocyte chemotaxis	IDA	biological_process
GO:0090280	positive regulation of ca lcium ion import	TAS	biological_process
GO:1902230	negative regulation of in trinsic apoptotic signali ng pathway in response to DNA damage	IDA	biological_process
GO:1903237	negative regulation of le ukocyte tethering or roll ing	IDA	biological_process
GO:2000107	negative regulation of le ukocyte apoptotic process	IDA	biological_process
GO:2000406	positive regulation of T cell migration	IDA	biological_process
GO:0005102	receptor binding	TAS	molecular_function
GO:0005102	receptor binding	TAS	molecular_function
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:0006874	cellular calcium ion home ostasis	TAS	biological_process
GO:0006935	chemotaxis	TAS	biological_process
GO:0006935	chemotaxis	TAS	biological_process
GO:0006955	immune response	TAS	biological_process
GO:0007155	cell adhesion	TAS	biological_process
GO:0007165	signal transduction	TAS	biological_process
GO:0007186	G-protein coupled recepto r signaling pathway	TAS	biological_process
GO:0007411	axon guidance	IBA	biological_process
GO:0008009	chemokine activity	TAS	molecular_function
GO:0008009	chemokine activity	TAS	molecular_function
GO:0008009	chemokine activity	IDA	molecular_function
GO:0008015	blood circulation	TAS	biological_process
GO:0008064	regulation of actin polym erization or depolymeriza tion	TAS	biological_process
GO:0009615	response to virus	TAS	biological_process
GO:0009897	external side of plasma m embrane	IBA	cellular_component
GO:0042056	chemoattractant activity	IBA	molecular_function
GO:0042379	chemokine receptor bindin g	IMP	molecular_function
GO:0045236	CXCR chemokine receptor b inding	IDA	molecular_function
GO:0045785	positive regulation of ce ll adhesion	IDA	biological_process
GO:0050930	induction of positive che motaxis	IBA	biological_process
GO:0060326	cell chemotaxis	IDA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070098	chemokine-mediated signal ing pathway	IDA	biological_process
GO:0090026	positive regulation of mo nocyte chemotaxis	IDA	biological_process
GO:0090280	positive regulation of ca lcium ion import	TAS	biological_process
GO:1902230	negative regulation of in trinsic apoptotic signali ng pathway in response to DNA damage	IDA	biological_process
GO:1903237	negative regulation of le ukocyte tethering or roll ing	IDA	biological_process
GO:2000107	negative regulation of le ukocyte apoptotic process	IDA	biological_process
GO:2000406	positive regulation of T cell migration	IDA	biological_process

KEGG pathways

hsa05200  Pathways in cancer
hsa04060  Cytokine-cytokine receptor interaction
hsa04062  Chemokine signaling pathway
hsa05323  Rheumatoid arthritis
hsa04360  Axon guidance
hsa04064  NF-kappa B signaling pathway
hsa04670  Leukocyte transendothelial migration
hsa04672  Intestinal immune network for IgA production

Diseases

Associated diseases	References
Alzheimer's disease	PMID: 15639953
Atherosclerosis	PMID: 15302103
Cancer	PMID: 15955592
Diabetes	PMID: 15699497
Endometriosis	PMID: 24534089
Follicular development	PMID: 21071025
Premature ovarian failure ( POF)	PMID: 21296802
Endometriosis	INFBASE23517860
Systemic lupus erythematosus	PMID: 18191726

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
24534089	Endometrio sis			26 (14 patients undergoing sur gical treatment for DIE with l ow rectal invol vemen, 12 patie nts without mac roscopic endome triosis undergo ing laparoscopy )		CXCL12 CXCR4	Show abstract
23517860	Endometrio sis			64 (22 bowel en dometriosis, 10 retrocervical endometriosis, 32 endometriosi s-free women)		CXCL9 CXCL10 CXCL11 CXCL12 XCL1 CCL17 CCL21and CX3CL1	Show abstract