• Gene id: 947

Gene Summary

• Gene Symbol: CD34   Gene   UCSC   Ensembl
• Gene name: CD34 molecule
• Alternate names: hematopoietic progenitor cell antigen CD34, CD34 antigen,
• Gene location: 1q32.2 (228140083: 228148983)     Exons: 12     NC_000001.11
• Gene summary(Entrez): The protein encoded by this gene may play a role in the attachment of stem cells to the bone marrow extracellular matrix or to stromal cells. This single-pass membrane protein is highly glycosylated and phosphorylated by protein kinase C. Two transcript v
• OMIM: 142230

SNPs

rs2070565

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000021.9   g.44261270T>C
NC_000021.8   g.45681153T>C|SEQ=[T/C]|GENE=DNMT3L

rs2276248

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000021.9   g.44259375T>C
NC_000021.8   g.45679258T>C|SEQ=[T/C]|GENE=DNMT3L

rs7354779

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000021.9   g.44250887T>C
NC_000021.8   g.45670770T>C
NM_013369.3   c.832A>G
NM_013369.4   c.832A>G
NM_175867.2   c.832A>G
NM_175867.3   c.832A>G
NR_135514.1   n.75T>C
NP_037501.2   p.Arg278Gly
NP_787063.1   p.Arg278Gly|SEQ=[T/C]|GENE=DNMT3L
DNMT3L-AS1   1053728

rs6080550

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.1778944C>G
NC_000020.11   g.1778944C>T
NC_000020.10   g.1759590C>G
NC_000020.10   g.1759590C>T|SEQ=[C/G/T]|GENE=LOC100289473

rs3814309

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.109734781T>C
NC_000001.10   g.110277403T>C
NM_000849.4   c.*2290A>G
NM_000849.5   c.*2290A>G
NR_024537.1   n.3202A>G|SEQ=[T/C]|GENE=GSTM3

rs1571858

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.109737292C>A
NC_000001.11   g.109737292C>G
NC_000001.11   g.109737292C>T
NC_000001.10   g.110279914C>A
NC_000001.10   g.110279914C>G
NC_000001.10   g.110279914C>T|SEQ=[C/A/G/T]|GENE=GSTM3

Protein Summary

• Protein general information: P28906  
  • Name: Hematopoietic progenitor cell antigen CD34 (CD antigen CD34)
  • Length: 385  
  • Mass: 40716
  • Tissue specificity: Selectively expressed on hematopoietic progenitor cells and the small vessel endothelium of a variety of tissues.
• Sequence:

  MLVRRGARAGPRMPRGWTALCLLSLLPSGFMSLDNNGTATPELPTQGTFSNVSTNVSYQETTTPSTLGSTSLHPV
  SQHGNEATTNITETTVKFTSTSVITSVYGNTNSSVQSQTSVISTVFTTPANVSTPETTLKPSLSPGNVSDLSTTS
  TSLATSPTKPYTSSSPILSDIKAEIKCSGIREVKLTQGICLEQNKTSSCAEFKKDRGEGLARVLCGEEQADADAG
  AQVCSLLLAQSEVRPQCLLLVLANRTEISSKLQLMKKHQSDLKKLGILDFTEQDVASHQSYSQKTLIALVTSGAL
  LAVLGITGYFLMNRRSWSPTGERLGEDPYYTENGGGQGYSSGPGTSPEAQGKASVNRGAQENGTGQATSRNGHSA
  RQHVVADTEL

• Structural information:
  • Interpro: IPR008083  IPR013836  
  • STRING: ENSP00000310036
• Other Databases: GeneCards:  CD34  Malacards:  CD34

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030246	carbohydrate binding	IDA	molecular function
GO:0009897	external side of plasma membrane	IC	cellular component
GO:0098609	cell-cell adhesion	IDA	biological process
GO:0050900	leukocyte migration	ISS	biological process
GO:0007160	cell-matrix adhesion	IBA	biological process
GO:0007155	cell adhesion	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0050776	regulation of immune response	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0071944	cell periphery	IEA	cellular component
GO:0050900	leukocyte migration	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0036053	glomerular endothelium fenestra	IEA	cellular component
GO:0035759	mesangial cell-matrix adhesion	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0003094	glomerular filtration	IEA	biological process
GO:0043199	sulfate binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0009986	cell surface	IEA	cellular component
GO:0009897	external side of plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0009925	basal plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:1901215	negative regulation of neuron death	IDA	biological process
GO:1900168	positive regulation of glial cell-derived neurotrophic factor secretion	IDA	biological process
GO:1900035	negative regulation of cellular response to heat	IDA	biological process
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0045019	negative regulation of nitric oxide biosynthetic process	IDA	biological process
GO:0032733	positive regulation of interleukin-10 production	IDA	biological process
GO:0032720	negative regulation of tumor necrosis factor production	IDA	biological process
GO:0008217	regulation of blood pressure	IDA	biological process
GO:2001214	positive regulation of vasculogenesis	IDA	biological process
GO:0045766	positive regulation of angiogenesis	IDA	biological process
GO:0045171	intercellular bridge	IDA	cellular component
GO:0009897	external side of plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0001894	tissue homeostasis	IDA	biological process
GO:0071657	positive regulation of granulocyte colony-stimulating factor production	IDA	biological process
GO:0038001	paracrine signaling	IDA	biological process
GO:1900038	negative regulation of cellular response to hypoxia	IDA	biological process
GO:0071971	extracellular exosome assembly	IDA	biological process
GO:0071636	positive regulation of transforming growth factor beta production	IDA	biological process
GO:0045766	positive regulation of angiogenesis	IDA	biological process
GO:0042482	positive regulation of odontogenesis	IDA	biological process
GO:0030195	negative regulation of blood coagulation	IDA	biological process
GO:0009897	external side of plasma membrane	IDA	cellular component
GO:0009897	external side of plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0001935	endothelial cell proliferation	IDA	biological process
GO:0072089	stem cell proliferation	IEP	biological process
GO:0048870	cell motility	IEP	biological process
GO:0010628	positive regulation of gene expression	IEP	biological process
GO:0007165	signal transduction	IEP	biological process
GO:0005764	lysosome	ISS	cellular component
GO:0003094	glomerular filtration	IEP	biological process
GO:0060290	transdifferentiation	IEP	biological process
GO:0030097	hemopoiesis	IMP	biological process
GO:0008134	transcription factor binding	IPI	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0072254	metanephric glomerular mesangial cell differentiation	IEP	biological process
GO:0072011	glomerular endothelium development	IEP	biological process
GO:0071657	positive regulation of granulocyte colony-stimulating factor production	IEP	biological process
GO:0071425	hematopoietic stem cell proliferation	IMP	biological process
GO:0036053	glomerular endothelium fenestra	ISS	cellular component
GO:0035759	mesangial cell-matrix adhesion	ISS	biological process
GO:0003158	endothelium development	IEP	biological process
GO:1900041	negative regulation of interleukin-2 secretion	IMP	biological process
GO:0061042	vascular wound healing	IEP	biological process
GO:0016324	apical plasma membrane	ISS	cellular component
GO:0010629	negative regulation of gene expression	IMP	biological process
GO:0009925	basal plasma membrane	ISS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04514	Cell adhesion molecules
hsa04640	Hematopoietic cell lineage

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)