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
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]
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.
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.
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
ModBase Predicted Comparative 3D Structure on P48061-4
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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.