Human Gene CXCL12 (uc021ppm.1)
  Description: Homo sapiens chemokine (C-X-C motif) ligand 12 (CXCL12), transcript variant 4, mRNA.
RefSeq Summary (NM_001178134): 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].
Transcript (Including UTRs)
   Position: hg19 chr10:44,872,510-44,880,545 Size: 8,036 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr10:44,873,197-44,880,453 Size: 7,257 Coding Exon Count: 4 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:44,872,510-44,880,545)mRNA (may differ from genome)Protein (140 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCLynxMalacardsMGIOMIM
PubMedReactomeTreefamUniProtKBWikipediaBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): CXCL12
CDC HuGE Published Literature: CXCL12
Positive Disease Associations: , atherosclerosis , coronary disease , diabetes, type 1 , hematopoietic progenitor cells, mobilization of , HIV , leukemia, myeloid , myocardial infarction (early onset) , Tunica Media
Related Studies:

  1. K Bogunia-Kubik , et al. Bone marrow transplantation 2009 44(5):273-8, The CXCL12-3'A allele is associated with a higher mobilization yield of CD34 progenitors to the peripheral blood of healthy donors for allogeneic transplantation., Bone marrow transplantation 2009 44(5):273-8. [PubMed 19252530]
  2. atherosclerosis
    Coll, B. et al. 2005, The stromal derived factor-1 mutated allele (SDF1-3'A) is associated with a lower incidence of atherosclerosis in HIV-infected patients., AIDS (London, England). 2005 Nov;19(16):1877-83. [PubMed 16227796]
    The SDF1-3'A allele is associated with a lower presence of subclinical carotid atherosclerosis in an HIV-infected population.
  3. coronary disease
    Samani ,et al. 2007, Genomewide association analysis of coronary artery disease, The New England journal of medicine 2007 357- 5 : 443-53. [PubMed 17634449]
    We identified several genetic loci that, individually and in aggregate, substantially affect the risk of development of coronary artery disease.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: CXCL12
Diseases sorted by gene-association score: hiv-1* (300), aids dementia complex (29), whim syndrome (26), ischemia (15), macular retinal edema (10), bursitis (9), type 1 diabetes mellitus 10 (9), lymphoplasmacytic lymphoma (8), acute t cell leukemia (8), agammaglobulinemia (8), myocardial infarction (7), retinal ischemia (7), central nervous system lymphoma (7), corneal neovascularization (7), clivus chordoma (7), limb ischemia (7), intraocular lymphoma (7), macroglobulinemia (7), primary central nervous system lymphoma (6), avoidant personality disorder (6), pelvic inflammatory disease (5), microvascular complications of diabetes 1 (5), cd45 deficiency (4), rheumatoid arthritis (4), retinal hemangioblastoma (4), chronic lymphocytic leukemia (3), breast cancer (3), primary immunodeficiency disease (3), kidney cancer (2), asthma (2), multiple myeloma (2), hematologic cancer (2), pulmonary fibrosis, idiopathic (1), colorectal cancer (1), human immunodeficiency virus infectious disease (1), lymphoma, non-hodgkin (1), leukemia, acute myeloid (0)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 45.51 RPKM in Spleen
Total median expression: 489.20 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -22.5092-0.245 Picture PostScript Text
3' UTR -177.39687-0.258 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF00048 - Small cytokines (intecrine/chemokine), interleukin-8 like

SCOP Domains:
54117 - Interleukin 8-like chemokines

ModBase Predicted Comparative 3D Structure on P48061-4
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Descriptions from all associated GenBank mRNAs
  DQ345519 - Homo sapiens stromal cell-derived factor 1 epsilon mRNA, complete cds.
DQ345520 - Homo sapiens stromal cell-derived factor 1 theta mRNA, complete cds.
LF207354 - JP 2014500723-A/14857: Polycomb-Associated Non-Coding RNAs.
U16752 - Human cytokine SDF-1-beta mRNA, complete cds.
E09669 - cDNA encoding human SDF-1 beta.
FB357022 - Sequence 907 from Patent WO2006128141.
L36033 - Human pre-B cell stimulating factor homologue (SDF1b) mRNA, complete cds.
LF213908 - JP 2014500723-A/21411: Polycomb-Associated Non-Coding RNAs.
AK311814 - Homo sapiens cDNA, FLJ92075, Homo sapiens chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1) (CXCL12), mRNA.
DQ345518 - Homo sapiens stromal cell-derived factor 1 gamma mRNA, complete cds.
AB385200 - Synthetic construct DNA, clone: pF1KB9267, Homo sapiens CXCL12 gene for stromal cell-derived factor 1 precursor, complete cds, without stop codon, in Flexi system.
AY644456 - Homo sapiens stromal cell-derived factor 1 gamma (CXCL12) mRNA, complete cds.
AB463489 - Synthetic construct DNA, clone: pF1KE0197, Homo sapiens CXCL12 gene for chemokine (C-X-C motif) ligand 12, without stop codon, in Flexi system.
AJ227905 - Homo sapiens partial mRNA; ID ED66-5A.
BC039893 - Homo sapiens chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1), mRNA (cDNA clone MGC:47612 IMAGE:5729604), complete cds.
E09668 - cDNA encoding human SDF-1 alpha.
L36034 - Human pre-B cell stimulating factor homologue (SDF1a) mRNA, complete cds.
U19495 - Human intercrine-alpha (hIRH) mRNA, complete cds.
BC031072 - Homo sapiens chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1), mRNA (cDNA clone IMAGE:5314832).
DQ345517 - Homo sapiens stromal cell-derived factor 1 delta mRNA, complete cds.
LF365329 - JP 2014500723-A/172832: Polycomb-Associated Non-Coding RNAs.
LF365328 - JP 2014500723-A/172831: Polycomb-Associated Non-Coding RNAs.
AY874118 - Homo sapiens stromal cell-derived factor 1a mRNA, complete cds.
AK292628 - Homo sapiens cDNA FLJ76575 complete cds, highly similar to Homo sapiens chemokine (C-X-C motif) ligand 12 (stromalcell-derived factor 1) (CXCL12), mRNA.
CR450283 - Homo sapiens full open reading frame cDNA clone RZPDo834A051D for gene CXCL12, chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1); complete cds; without stopcodon.
AK090482 - Homo sapiens mRNA for FLJ00404 protein.
LF212068 - JP 2014500723-A/19571: Polycomb-Associated Non-Coding RNAs.
LF213056 - JP 2014500723-A/20559: Polycomb-Associated Non-Coding RNAs.
JD487711 - Sequence 468735 from Patent EP1572962.
JD394920 - Sequence 375944 from Patent EP1572962.
MA449485 - JP 2018138019-A/21411: Polycomb-Associated Non-Coding RNAs.
MA600906 - JP 2018138019-A/172832: Polycomb-Associated Non-Coding RNAs.
MA600905 - JP 2018138019-A/172831: Polycomb-Associated Non-Coding RNAs.
MA442931 - JP 2018138019-A/14857: Polycomb-Associated Non-Coding RNAs.
MA447645 - JP 2018138019-A/19571: Polycomb-Associated Non-Coding RNAs.
MA448633 - JP 2018138019-A/20559: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04060 - Cytokine-cytokine receptor interaction
hsa04062 - Chemokine signaling pathway
hsa04360 - Axon guidance
hsa04670 - Leukocyte transendothelial migration
hsa04672 - Intestinal immune network for IgA production

BioCarta from NCI Cancer Genome Anatomy Project
h_cxcr4Pathway - CXCR4 Signaling Pathway
h_Ccr5Pathway - Pertussis toxin-insensitive CCR5 Signaling in Macrophage

Reactome (by CSHL, EBI, and GO)

Protein P48061 (Reactome details) participates in the following event(s):

R-HSA-374214 Receptors CXCR4 and 7 bind CXCL12 ligand
R-HSA-8986258 SLIT2:ROBO1 binds CXCR4
R-HSA-749454 The Ligand:GPCR:Gi complex dissociates
R-HSA-749456 Liganded Gi-activating GPCRs bind inactive heterotrimeric G-protein Gi
R-HSA-380073 Liganded Gi-activating GPCR acts as a GEF for Gi
R-HSA-380108 Chemokine receptors bind chemokines
R-HSA-1251985 Nuclear signaling by ERBB4
R-HSA-9018519 Estrogen-dependent gene expression
R-HSA-376176 Signaling by ROBO receptors
R-HSA-418594 G alpha (i) signalling events
R-HSA-375276 Peptide ligand-binding receptors
R-HSA-1236394 Signaling by ERBB4
R-HSA-8939211 ESR-mediated signaling
R-HSA-422475 Axon guidance
R-HSA-388396 GPCR downstream signalling
R-HSA-373076 Class A/1 (Rhodopsin-like receptors)
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-9006931 Signaling by Nuclear Receptors
R-HSA-1266738 Developmental Biology
R-HSA-372790 Signaling by GPCR
R-HSA-500792 GPCR ligand binding
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: NM_001178134, NP_001171605, P48061-4, SDF1, SDF1A, SDF1B
UCSC ID: uc021ppm.1
RefSeq Accession: NM_001178134
Protein: P48061-4, splice isoform of P48061 CCDS: CCDS53527.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001178134.1
exon count: 4CDS single in 3' UTR: no RNA size: 1209
ORF size: 423CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1046.00frame shift in genome: no % Coverage: 99.42
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.