CXCL12 Gene (Protein Coding)

C-X-C Motif Chemokine Ligand 12

GC10M044294
GIFtS:
45
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 a... See more...

Aliases for CXCL12 Gene

Aliases for CXCL12 Gene

  • C-X-C Motif Chemokine Ligand 12 2 3 5
  • Stromal Cell-Derived Factor 1 2 3 4
  • PBSF 2 3 4
  • Pre-B Cell Growth-Stimulating Factor 3 4
  • Chemokine (C-X-C Motif) Ligand 12 2 3
  • Intercrine Reduced In Hepatomas 3 4
  • SCYB12 2 3
  • TPAR1 2 3
  • SDF1 3 4
  • IRH 3 4
  • C-X-C Motif Chemokine 12 4
  • CXCL12 5
  • SDF-1a 2
  • SDF-1b 2
  • TLSF-A 2
  • TLSF-B 2
  • HSDF-1 4
  • SDF1A 4
  • SDF1B 4
  • SDF-1 4
  • TLSF 3
  • HIRH 4

External Ids for CXCL12 Gene

Previous HGNC Symbols for CXCL12 Gene

  • SDF1A
  • SDF1B
  • SDF1

Previous GeneCards Identifiers for CXCL12 Gene

  • GC10M044154
  • GC10M044334
  • GC10M044640
  • GC10M044149
  • GC10M044185
  • GC10M044865
  • GC10M041391
  • GC10M044370

Summaries for CXCL12 Gene

Entrez Gene Summary for CXCL12 Gene

  • 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]

GeneCards Summary for CXCL12 Gene

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 Signaling by GPCR and NF-KappaB Family Pathway. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and chemokine activity.

UniProtKB/Swiss-Prot Summary for CXCL12 Gene

  • Chemoattractant active on T-lymphocytes and monocytes but not neutrophils. Activates the C-X-C chemokine receptor CXCR4 to induce a rapid and transient rise in the level of intracellular calcium ions and chemotaxis. SDF-1-beta(3-72) and SDF-1-alpha(3-67) show a reduced chemotactic activity. Binding to cell surface proteoglycans seems to inhibit formation of SDF-1-alpha(3-67) and thus to preserve activity on local sites. Also binds to atypical chemokine receptor ACKR3, which activates the beta-arrestin pathway and acts as a scavenger receptor for SDF-1. Binds to the allosteric site (site 2) of integrins and activates integrins ITGAV:ITGB3, ITGA4:ITGB1 and ITGA5:ITGB1 in a CXCR4-independent manner (PubMed:29301984). Acts as a positive regulator of monocyte migration and a negative regulator of monocyte adhesion via the LYN kinase. Stimulates migration of monocytes and T-lymphocytes through its receptors, CXCR4 and ACKR3, and decreases monocyte adherence to surfaces coated with ICAM-1, a ligand for beta-2 integrins. SDF1A/CXCR4 signaling axis inhibits beta-2 integrin LFA-1 mediated adhesion of monocytes to ICAM-1 through LYN kinase. Inhibits CXCR4-mediated infection by T-cell line-adapted HIV-1. Plays a protective role after myocardial infarction. Induces down-regulation and internalization of ACKR3 expressed in various cells. Has several critical functions during embryonic development; required for B-cell lymphopoiesis, myelopoiesis in bone marrow and heart ventricular septum formation. Stimulates the proliferation of bone marrow-derived B-cell progenitors in the presence of IL7 as well as growth of stromal cell-dependent pre-B-cells (By similarity).

Gene Wiki entry for CXCL12 Gene

Additional gene information for CXCL12 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CXCL12 Gene

Genomics for CXCL12 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for CXCL12 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CXCL12 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CXCL12

Top Transcription factor binding sites by QIAGEN in the CXCL12 gene promoter:
  • CREB
  • deltaCREB
  • STAT1
  • STAT5A

Genomic Locations for CXCL12 Gene

Genomic Locations for CXCL12 Gene
chr10:44,292,088-44,386,493
(GRCh38/hg38)
Size:
94,406 bases
Orientation:
Minus strand
chr10:44,793,038-44,881,941
(GRCh37/hg19)
Size:
88,904 bases
Orientation:
Minus strand

Genomic View for CXCL12 Gene

Genes around CXCL12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CXCL12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CXCL12 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CXCL12 Gene

Proteins for CXCL12 Gene

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  • Protein details for CXCL12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P48061-SDF1_HUMAN
    Recommended name:
    Stromal cell-derived factor 1
    Protein Accession:
    P48061
    Secondary Accessions:
    • B2R4G0
    • E7EVL0
    • H7BYN8
    • Q2L985
    • Q2L986
    • Q2L988
    • Q5IT36
    • Q6ICW0
    • Q9H554

    Protein attributes for CXCL12 Gene

    Size:
    93 amino acids
    Molecular mass:
    10666 Da
    Quaternary structure:
    • Monomer or homodimer; in equilibrium. Dimer formation is induced by non acidic pH and the presence of multivalent anions, and by binding to CXCR4 or heparin. Monomeric form is required for full chemotactic activity and resistance to ischemia/reperfusion injury, whereas the dimeric form acts as a partial agonist of CXCR4, stimulating Ca2+ mobilization but with no chemotactic activity and instead acts as a selective antagonist that blocks chemotaxis induced by the monomeric form. Interacts with the N-terminus of ACKR3. Interacts with integrin subunit ITGB3 (via the allosteric site (site 2)) (PubMed:29301984).
    • (Microbial infection) Interacts with molluscum contagiosum virus protein MC148.

    Three dimensional structures from OCA and Proteopedia for CXCL12 Gene

    Alternative splice isoforms for CXCL12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CXCL12 Gene

Protein Expression for CXCL12 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CXCL12 Gene

  • Processed forms SDF-1-beta(3-72) and SDF-1-alpha(3-67) are produced after secretion by proteolytic cleavage of isoforms Beta and Alpha, respectively. The N-terminal processing is probably achieved by DPP4. Isoform Alpha is first cleaved at the C-terminus to yield a SDF-1-alpha(1-67) intermediate before being processed at the N-terminus. The C-terminal processing of isoform Alpha is reduced by binding to heparin and, probably, cell surface proteoglycans.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CXCL12 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for CXCL12

Protein Products

No data available for DME Specific Peptides for CXCL12 Gene

Domains & Families for CXCL12 Gene

Gene Families for CXCL12 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for CXCL12 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CXCL12 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ76575, highly similar to Homo sapiens chemokine (C-X-C motif) ligand 12 (stromalcell-derived factor 1) (CXCL12), mRNA (Q6ICW0_HUMAN)
  • Pre-B cell growth-stimulating factor (SDF1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P48061

UniProtKB/Swiss-Prot:

SDF1_HUMAN :
  • Belongs to the intercrine alpha (chemokine CxC) family.
Family:
  • Belongs to the intercrine alpha (chemokine CxC) family.
genes like me logo Genes that share domains with CXCL12: view

Function for CXCL12 Gene

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Molecular function for CXCL12 Gene

UniProtKB/Swiss-Prot Function:
Chemoattractant active on T-lymphocytes and monocytes but not neutrophils. Activates the C-X-C chemokine receptor CXCR4 to induce a rapid and transient rise in the level of intracellular calcium ions and chemotaxis. SDF-1-beta(3-72) and SDF-1-alpha(3-67) show a reduced chemotactic activity. Binding to cell surface proteoglycans seems to inhibit formation of SDF-1-alpha(3-67) and thus to preserve activity on local sites. Also binds to atypical chemokine receptor ACKR3, which activates the beta-arrestin pathway and acts as a scavenger receptor for SDF-1. Binds to the allosteric site (site 2) of integrins and activates integrins ITGAV:ITGB3, ITGA4:ITGB1 and ITGA5:ITGB1 in a CXCR4-independent manner (PubMed:29301984). Acts as a positive regulator of monocyte migration and a negative regulator of monocyte adhesion via the LYN kinase. Stimulates migration of monocytes and T-lymphocytes through its receptors, CXCR4 and ACKR3, and decreases monocyte adherence to surfaces coated with ICAM-1, a ligand for beta-2 integrins. SDF1A/CXCR4 signaling axis inhibits beta-2 integrin LFA-1 mediated adhesion of monocytes to ICAM-1 through LYN kinase. Inhibits CXCR4-mediated infection by T-cell line-adapted HIV-1. Plays a protective role after myocardial infarction. Induces down-regulation and internalization of ACKR3 expressed in various cells. Has several critical functions during embryonic development; required for B-cell lymphopoiesis, myelopoiesis in bone marrow and heart ventricular septum formation. Stimulates the proliferation of bone marrow-derived B-cell progenitors in the presence of IL7 as well as growth of stromal cell-dependent pre-B-cells (By similarity).

Phenotypes From GWAS Catalog for CXCL12 Gene

Gene Ontology (GO) - Molecular Function for CXCL12 Gene

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
genes like me logo Genes that share ontologies with CXCL12: view
genes like me logo Genes that share phenotypes with CXCL12: view

Animal Models for CXCL12 Gene

MGI Knock Outs for CXCL12:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CXCL12

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CXCL12 Gene

Localization for CXCL12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CXCL12 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CXCL12 gene
Compartment Confidence
extracellular 5
plasma membrane 4
nucleus 4
cytoskeleton 3
cytosol 3
mitochondrion 2
endoplasmic reticulum 2
endosome 2
lysosome 2
golgi apparatus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for CXCL12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA --
GO:0005623 cell IEA --
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with CXCL12: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CXCL12 Gene

Pathways & Interactions for CXCL12 Gene

PathCards logo

SuperPathways for CXCL12 Gene

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
Cytokine-cytokine receptor interaction
.43
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
.62
Nanog in Mammalian ESC Pluripotency
.62
14-3-3 Induced Intracellular Signaling
.59
eNOS Signaling
.48
genes like me logo Genes that share pathways with CXCL12: view

Pathways by source for CXCL12 Gene

4 GeneGo (Thomson Reuters) pathways for CXCL12 Gene
  • Apoptosis and survival Lymphotoxin-beta receptor signaling
  • Cell adhesion Integrin inside-out signaling
  • Chemotaxis CXCR4 signaling pathway
  • Cytoskeleton remodeling Reverse signaling by ephrin B
70 Qiagen pathways for CXCL12 Gene
  • 14-3-3 Induced Intracellular Signaling
  • Actin-Based Motility by Rho Family GTPases
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • Activation of PKC through GPCR
1 Cell Signaling Technology pathway for CXCL12 Gene

SIGNOR curated interactions for CXCL12 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for CXCL12 Gene

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
genes like me logo Genes that share ontologies with CXCL12: view

Drugs & Compounds for CXCL12 Gene

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  1. Drug

(53) Drugs for CXCL12 Gene - From: DrugBank, PharmGKB, ClinicalTrials, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
rituximab Approved Pharma Therapeutic Antibodies 2024
Cyclophosphamide Approved, Investigational Pharma Nitrogen mustard alkylating agent and prodrug. 3670
Dexamethasone Approved, Investigational, Vet_approved Pharma Agonist Anti-inflammatory glucocorticoid 2886
Tinzaparin Approved Pharma Target, binder 401
alemtuzumab Approved, Investigational Pharma Therapeutic Antibodies 349

(48) Additional Compounds for CXCL12 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CXCL12: view

Transcripts for CXCL12 Gene

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mRNA/cDNA for CXCL12 Gene

5 REFSEQ mRNAs :
24 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CXCL12

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CXCL12 Gene

No ASD Table

Relevant External Links for CXCL12 Gene

GeneLoc Exon Structure for
CXCL12

Expression for CXCL12 Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CXCL12 Gene

mRNA expression in normal human tissues for CXCL12 Gene
mRNA expression by GTEx for CXCL12 GenemRNA expression by BioGPS for CXCL12 Gene

Protein differential expression in normal tissues from HIPED for CXCL12 Gene

This gene is overexpressed in Urine (29.5) and Bone marrow mesenchymal stem cell (17.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CXCL12 Gene



Protein tissue co-expression partners for CXCL12 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CXCL12

SOURCE GeneReport for Unigene cluster for CXCL12 Gene:

Hs.522891

mRNA Expression by UniProt/SwissProt for CXCL12 Gene:

P48061-SDF1_HUMAN
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, isoform Epsilon and isoform Theta have highest expression levels in pancreas, with lower levels detected in heart, kidney, liver and spleen.

Evidence on tissue expression from TISSUES for CXCL12 Gene

  • Nervous system(4.9)
  • Heart(4.8)
  • Liver(4.8)
  • Spleen(3.9)
  • Lymph node(3.9)
  • Bone marrow(3.9)
  • Muscle(3.7)
  • Kidney(3.7)
  • Blood(3.7)
  • Bone(3.7)
  • Intestine(3.6)
  • Skin(3.5)
  • Stomach(3.3)
  • Lung(3.3)
  • Pancreas(3.2)
  • Eye(2.9)
  • Adrenal gland(2.9)
  • Gall bladder(2.8)
  • Thyroid gland(2.8)
genes like me logo Genes that share expression patterns with CXCL12: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CXCL12 Gene

Orthologs for CXCL12 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CXCL12 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia CXCL12 31
  • 100 (a)
 OneToOne
LOC741624 30
  • 83.18 (n)
Dog
(Canis familiaris)
 Mammalia CXCL12 30 31
  • 88.64 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia CXCL12 30 31
  • 88.64 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Cxcl12 30 17 31
  • 82.22 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Cxcl12 30
  • 81.59 (n)
Oppossum
(Monodelphis domestica)
 Mammalia CXCL12 31
  • 78 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia CXCL12 31
  • 76 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves CXCL12 30 31
  • 79.45 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia CXCL12 31
  • 69 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia cxcl12 30
  • 70.72 (n)
African clawed frog
(Xenopus laevis)
 Amphibia MGC68770 30
Zebrafish
(Danio rerio)
 Actinopterygii cxcl12b 31
  • 42 (a)
 OneToMany
cxcl12a 31
  • 42 (a)
 OneToMany
Species where no ortholog for CXCL12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CXCL12 Gene

ENSEMBL:
Gene Tree for CXCL12 (if available)
TreeFam:
Gene Tree for CXCL12 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CXCL12: view image

Paralogs for CXCL12 Gene

(10) SIMAP similar genes for CXCL12 Gene using alignment to 2 proteins:

  • SDF1_HUMAN
  • H7BYN8_HUMAN
genes like me logo Genes that share paralogs with CXCL12: view

No data available for Paralogs for CXCL12 Gene

Variants for CXCL12 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CXCL12 Gene

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 THREE_PRIME_UTR_VARIANT,INTRON_VARIANT
rs749856360 Uncertain Significance: not provided 44,378,631(-) G/A THREE_PRIME_UTR_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for CXCL12 Gene

Structural Variations from Database of Genomic Variants (DGV) for CXCL12 Gene

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

Variation tolerance for CXCL12 Gene

Residual Variation Intolerance Score: 64.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.53; 11.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CXCL12 Gene

Human Gene Mutation Database (HGMD)
CXCL12
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CXCL12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CXCL12 Gene

Disorders for CXCL12 Gene

MalaCards: The human disease database

(84) MalaCards diseases for CXCL12 Gene - From: OMIM, ClinVar, GTR, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
human immunodeficiency virus type 1
  • human immunodeficiency virus type 1, susceptibility to
whim syndrome
  • whims
ischemia
  • acute coronary syndrome
molluscum contagiosum
bursitis
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CXCL12

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with CXCL12: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CXCL12 Gene

Publications for CXCL12 Gene

  1. Structure and chromosomal localization of the human stromal cell-derived factor 1 (SDF1) gene. (PMID: 7490086) Shirozu M … Honjo T (Genomics 1995) 2 3 4 23
  2. HIV infection and host genetic mutation among injecting drug-users of northeastern states of India. (PMID: 20411675) Sarkar K … Chakraborti S (Journal of health, population, and nutrition 2010) 3 23 41
  3. Chemokine polymorphisms and lymphoma: a pooled analysis. (PMID: 20038229) Bracci PM … Wiencke JK (Leukemia & lymphoma 2010) 3 23 41
  4. CXCL12 rs1801157 polymorphism in patients with breast cancer, Hodgkin's lymphoma, and non-Hodgkin's lymphoma. (PMID: 19927352) de Oliveira KB … Watanabe MA (Journal of clinical laboratory analysis 2009) 3 23 41
  5. CCR2, MCP-1, SDF-1a & DC-SIGN gene polymorphisms in HIV-1 infected patients with & without tuberculosis. (PMID: 19942750) Alagarasu K … Narayanan PR (The Indian journal of medical research 2009) 3 23 41

ExternalLinks

View latest publications for CXCL12 gene in Mastermind

Products for CXCL12 Gene

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