CD34 CD34 molecule [Homo sapiens (human)] - Gene

Summary

Official Symbol: CD34provided by HGNC
Official Full Name: CD34 moleculeprovided by HGNC
Primary source: HGNC:HGNC:1662
See related: Ensembl:ENSG00000174059 MIM:142230; AllianceGenome:HGNC:1662
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: 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]
Expression: Broad expression in placenta (RPKM 110.3), fat (RPKM 76.9) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q32.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (207880972..207911125, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (207127718..207157876, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (208054317..208084470, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The value of immunohistochemical expression of SOX9 and CD34 in alopecia areata.
Title: The value of immunohistochemical expression of SOX9 and CD34 in alopecia areata.
Role of CD34 in calcification of human aortic valve interstitial cells from patients with aortic valve stenosis.
Title: Role of CD34 in calcification of human aortic valve interstitial cells from patients with aortic valve stenosis.
Expression of CD31, CD34, and smooth muscle actin (SMA) in endothelial cells of dental pulp vessels.
Title: Expression of CD31, CD34, and smooth muscle actin (SMA) in endothelial cells of dental pulp vessels.
Extracellular vesicle-derived TP53BP1, CD34, and PBX1 from human peripheral blood serve as potential biomarkers for the assessment and prediction of vascular aging.
Title: Extracellular vesicle-derived TP53BP1, CD34, and PBX1 from human peripheral blood serve as potential biomarkers for the assessment and prediction of vascular aging.
VEGFR2 and CD34 expression associated with longer survival in patients with pleural mesothelioma in the IFCT-GFPC-0701 MAPS phase 3 trial.
Title: VEGFR2 and CD34 expression associated with longer survival in patients with pleural mesothelioma in the IFCT-GFPC-0701 MAPS phase 3 trial.
C-type Lectin Domain Family 4 Member G (CLEC4G) Is a Negative Marker for CD34 in the Evolution of Liver Pathogenesis.
Title: C-type Lectin Domain Family 4 Member G (CLEC4G) Is a Negative Marker for CD34 in the Evolution of Liver Pathogenesis.
Expression of Markers Ki-67, Nestin, VEGF, CD34 and Apoptosis in Relatively Healthy Lung Tissue with Non-Changed and Metaplastic Bronchial Epithelium.
Title: Expression of Markers Ki-67, Nestin, VEGF, CD34 and Apoptosis in Relatively Healthy Lung Tissue with Non-Changed and Metaplastic Bronchial Epithelium.
A comparative study of the epiligament of the medial collateral and anterior cruciate ligaments in the human knee: Immunohistochemical analysis of CD 34, alpha-smooth muscle actin and vascular endothelial growth factor in relation to epiligament theory.
Title: A comparative study of the epiligament of the medial collateral and anterior cruciate ligaments in the human knee: Immunohistochemical analysis of CD 34, α-smooth muscle actin and vascular endothelial growth factor in relation to epiligament theory.
Circulating CD34+ cells of primary myelofibrosis patients contribute to myeloid-dominant hematopoiesis and bone marrow fibrosis in immunodeficient mice.
Title: Circulating CD34+ cells of primary myelofibrosis patients contribute to myeloid-dominant hematopoiesis and bone marrow fibrosis in immunodeficient mice.
Endothelial Progenitor Cell CD34(+) and CD133(+) Concentrations and Soluble HLA-G Concentrations During Pregnancy and in Cord Blood in Undifferentiated Connective Tissue Diseases Compared to Controls.
Title: Endothelial Progenitor Cell CD34(+) and CD133(+) Concentrations and Soluble HLA-G Concentrations During Pregnancy and in Cord Blood in Undifferentiated Connective Tissue Diseases Compared to Controls.

Submit: New GeneRIF Correction See all GeneRIFs (326)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Common variants associated with general and MMR vaccine-related febrile seizures. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis identifies multiple loci related to resting heart rate. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. EBI GWAS Catalog EBI GWAS CatalogPubMed
Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat enhances vIL-6-induced angiogenesis and tumorigenesis of fibroblasts and human endothelial cells, which correlates with upregulation of CD31, CD34, SMA, VEGF, b-FGF, and cyclin D1 expression	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G60378 (e-PCR)
- UniSTS:137485

CD34_304 (e-PCR)
- UniSTS:277073

PMC110554P1 (e-PCR)
- UniSTS:270189

PMC110554P2 (e-PCR)
- UniSTS:270190

SHGC-112283 (e-PCR)
- UniSTS:168589

RH70214 (e-PCR)
- UniSTS:65204

RH69685 (e-PCR)
- UniSTS:32502

D1S3317 (e-PCR)
- UniSTS:65276

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables carbohydrate binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sulfate binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cell motility	IEP Inferred from Expression Pattern more info	PubMed
involved_in cell-cell adhesion	IDA Inferred from Direct Assay more info	PubMed
involved_in cell-matrix adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in endothelial cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in endothelium development	IEP Inferred from Expression Pattern more info	PubMed
involved_in extracellular exosome assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in glomerular endothelium development	IEP Inferred from Expression Pattern more info	PubMed
involved_in glomerular filtration	IEP Inferred from Expression Pattern more info	PubMed
involved_in hematopoietic stem cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hemopoiesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in leukocyte migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in mesangial cell-matrix adhesion	ISS Inferred from Sequence or Structural Similarity more info
involved_in metanephric glomerular mesangial cell differentiation	IEP Inferred from Expression Pattern more info	PubMed
involved_in negative regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of interleukin-2 production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in paracrine signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of angiogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of gene expression	IEP Inferred from Expression Pattern more info	PubMed
involved_in positive regulation of granulocyte colony-stimulating factor production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of granulocyte colony-stimulating factor production	IEP Inferred from Expression Pattern more info	PubMed
involved_in positive regulation of odontogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of vasculogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in signal transduction	IEP Inferred from Expression Pattern more info	PubMed
involved_in stem cell proliferation	IEP Inferred from Expression Pattern more info	PubMed
involved_in tissue homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in transdifferentiation	IEP Inferred from Expression Pattern more info	PubMed
involved_in vascular wound healing	IEP Inferred from Expression Pattern more info	PubMed

Component	Evidence Code	Pubs
located_in apical plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in basal plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in external side of plasma membrane	IC Inferred by Curator more info	PubMed
located_in external side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	IEA Inferred from Electronic Annotation more info
part_of glomerular endothelium fenestra	ISS Inferred from Sequence or Structural Similarity more info
located_in intercellular bridge	IDA Inferred from Direct Assay more info	PubMed
located_in lysosome	ISS Inferred from Sequence or Structural Similarity more info
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: hematopoietic progenitor cell antigen CD34

Names: CD34 antigen; CD34 sialomucin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001025109.2 → NP_001020280.1 hematopoietic progenitor cell antigen CD34 isoform a precursor

See identical proteins and their annotated locations for NP_001020280.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (a).

Source sequence(s)

AA022917, AL356275, BC039146, M81104

Consensus CDS

CCDS31011.1

UniProtKB/Swiss-Prot

A8K664, P28906, Q15970, Q15971, Q5JTA3, Q5JTA4, Q9UJB1

UniProtKB/TrEMBL

A8KAG5

Related

ENSP00000310036.7, ENST00000310833.12

Conserved Domains (1) summary

pfam06365
Location:190 → 384

CD34_antigen; CD34/Podocalyxin family
NM_001773.3 → NP_001764.1 hematopoietic progenitor cell antigen CD34 isoform b precursor

See identical proteins and their annotated locations for NP_001764.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct C-terminus compared to isoform a.

Source sequence(s)

AA022917, AL356275, BC039146, M81104

Consensus CDS

CCDS31012.1

UniProtKB/TrEMBL

Q3C1E7

Related

ENSP00000348916.4, ENST00000356522.4

Conserved Domains (1) summary

pfam06365
Location:190 → 328

CD34_antigen; CD34/Podocalyxin family