Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 947
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

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 (207911337: 207886537)     Exons: 8     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 variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
OMIM 142230

SNPs

rs2276248

Strand: +   Allele origin: unknown  Allele change: C/T   Mutation type: snp

NC_000021.9   g.44259375T>C
NC_000021.8   g.45679258T>C
NM_013369.3   c.344+62A>G
NM_175867.2   c.344+62A>G
rs7354779

Strand: +   Allele origin: unknown  Allele change: C/T   Mutation type: snp

NC_000021.8   g.45670770T>C
NC_000021.9   g.44250887T>C
NM_013369.3   c.832A>G
NR_135514.1   n.75T>C
NP_787063.1   p.Arg278Gly
NP_037501.2   p.Arg278Gly
NM_175867.2   c.832A>G
rs8129776

Strand: +   Allele origin: unknown  Allele change: A/G   Mutation type: snp

  
NC_000021.9   g.44249746G>A
NC_000021.8   g.45669629G>A
NM_013369.3   c.910-635C>T
NR_135514.1   n.-1067G>A
NM_175867.2   c.910-635C>T
  

Protein Summary

Protein general information P28906  

Name: Hematopoietic progenitor cell antigen CD34 (CD antigen CD34)

Length: 385  Mass: 40,716

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

Pfam:  
PF06365
STRING:   ENSP00000310036;
Other Databases GeneCards:  CD34;  Malacards:  CD34

Gene ontology


GO accessionTerm nameEvidence codeGo category

KEGG pathways

hsa04640  Hematopoietic cell lineage
hsa04514  Cell adhesion molecules (CAMs)

Diseases

Associated diseases References
Endometriosis PMID: 23650939

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
23650939 Endometrio
sis



Show abstract