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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]
CXCL12 (C-X-C Motif Chemokine Ligand 12) is a Protein Coding gene. Diseases associated with CXCL12 include Human Immunodeficiency Virus Type 1 and Whim Syndrome. Among its related pathways are ERK Signaling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and chemokine activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005102 | signaling receptor binding | TAS | 10358157 |
GO:0005125 | cytokine activity | IEA | -- |
GO:0005178 | integrin binding | IDA | 29301984 |
GO:0005515 | protein binding | IPI | 28381538 |
GO:0008009 | chemokine activity | IMP,TAS | 12782716 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005615 | extracellular space | IEA | -- |
GO:0005634 | nucleus | IEA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005886 | plasma membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Apoptotic Pathways in Synovial Fibroblasts |
Cellular Apoptosis Pathway
.85
Mitochondrial Apoptosis
.85
Apoptotic Pathways in Synovial Fibroblasts
.84
p53 Mediated Apoptosis
.84
DHA Signaling
.74
Telomerase Components in Cell Signaling
.72
PPAR Pathway
.66
|
Rac1 Pathway
.65
Glioma Invasiveness
.64
Actin-Based Motility by Rho Family GTPases
.62
ERK5 Signaling
.61
eIF2 Pathway
.60
Rap1 Pathway
.57
Nuclear Receptor Activation by Vitamin-A
.57
|
2 | PEDF Induced Signaling |
MIF Mediated Glucocorticoid Regulation
.94
MIF Regulation of Innate Immune Cells
.94
PEDF Induced Signaling
.73
all-trans-Retinoic Acid Signaling in Brain
.71
RAR-Gamma-RXR-Alpha Degradation
.62
|
IL-6 Pathway
.61
NFAT Signaling and Lymphocyte Interactions
.57
STAT3 Pathway
.47
Endothelin-1 Signaling Pathway
.46
|
3 | GPCR Pathway |
Paxillin Interactions
.73
Ras Pathway
.73
GPCR Pathway
.62
Pancreatic Adenocarcinoma
.59
|
Breast Cancer Regulation by Stathmin1
.58
NFAT in Immune Response
.58
Estrogen Pathway
.55
|
4 | ERK Signaling |
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
|
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
|
5 | Nanog in Mammalian ESC Pluripotency |
GSK3 Signaling
.61
Nanog in Mammalian ESC Pluripotency
.61
|
14-3-3 Induced Intracellular Signaling
.59
eNOS Signaling
.48
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001666 | response to hypoxia | IEA | -- |
GO:0001764 | neuron migration | IEA | -- |
GO:0001938 | positive regulation of endothelial cell proliferation | IEA | -- |
GO:0006874 | cellular calcium ion homeostasis | TAS | 10772939 |
GO:0006935 | chemotaxis | TAS | 12782716 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
rituximab | Approved | Pharma | Therapeutic Antibodies | 2101 | ||
Cyclophosphamide | Approved, Investigational | Pharma | Nitrogen mustard alkylating agent and prodrug. | 3824 | ||
Dexamethasone | Approved, Investigational, Vet_approved | Pharma | Anti-inflammatory glucocorticoid | 3084 | ||
Tinzaparin | Approved | Pharma | Target, binder | 443 | ||
alemtuzumab | Approved, Investigational | Pharma | Therapeutic Antibodies | 353 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CXCL12 31 |
|
OneToOne | |
LOC741624 30 |
|
||||
Dog (Canis familiaris) |
Mammalia | CXCL12 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CXCL12 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Cxcl12 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cxcl12 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | CXCL12 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | CXCL12 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CXCL12 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CXCL12 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cxcl12 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | MGC68770 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | cxcl12b 31 |
|
OneToMany | |
cxcl12a 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs387906400 | Protective: Human immunodeficiency virus type 1, susceptibility to | 44,378,102(-) |
C/T NM_199168.4(CXCL12):c.*531G>A |
THREE_PRIME_UTR_VARIANT,INTRON | |
rs749856360 | Uncertain Significance: not provided | 44,378,631(-) |
G/A NM_000609.7(CXCL12):c.266+6C>T |
THREE_PRIME_UTR_VARIANT,INTRON |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1038511 | CNV | loss | 25217958 |
nsv1054649 | CNV | gain | 25217958 |
nsv1068306 | CNV | deletion | 25765185 |
nsv483001 | CNV | loss | 15286789 |
nsv550699 | CNV | gain | 21841781 |
nsv550700 | CNV | gain | 21841781 |
nsv825357 | CNV | gain | 20364138 |
Disorder | Aliases | PubMed IDs |
---|---|---|
human immunodeficiency virus type 1 |
|
|
whim syndrome |
|
|
ischemia |
|
|
molluscum contagiosum |
|
|
bursitis |
|
|