CD34

Summary

CD34 (CD34 molecule, HGNC:1662) is a protein-coding gene on chromosome 1q32.2, encoding Hematopoietic progenitor cell antigen CD34 (P28906). Possible adhesion molecule with a role in early hematopoiesis by mediating the attachment of stem cells to the bone marrow extracellular matrix or directly to stromal cells.

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.

Source: NCBI Gene 947 — RefSeq curated summary.

At a glance

• GWAS associations: 18
• Clinical variants (ClinVar): 60 total
• MANE Select transcript: NM_001025109

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1662
Approved symbol	CD34
Name	CD34 molecule
Location	1q32.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000174059
Ensembl biotype	protein_coding
OMIM	142230
Entrez	947

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 5 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000310833, ENST00000356522, ENST00000367036, ENST00000485761, ENST00000963933, ENST00000963934

RefSeq mRNA: 2 — MANE Select: NM_001025109 NM_001025109, NM_001773

CCDS: CCDS31011, CCDS31012

Canonical transcript exons

ENST00000310833 — 8 exons

Exon	Start	End
ENSE00001184735	207898973	207899226
ENSE00003489497	207888682	207888846
ENSE00003539576	207899821	207900003
ENSE00003549085	207889465	207889621
ENSE00003600049	207889161	207889213
ENSE00003682590	207897493	207897573
ENSE00003758503	207880972	207887923
ENSE00003892769	207911002	207911125

Expression profiles

Bgee: expression breadth ubiquitous, 220 present calls, max score 98.20.

FANTOM5 (CAGE): breadth broad, TPM avg 21.3395 / max 1520.9442, expressed in 533 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter ID	TPM avg	Samples expressed
17187	17.7616	498
17190	1.1061	290
17189	0.7361	267
17185	0.6675	107
17188	0.5889	187
17191	0.2505	106
17186	0.1635	83
17192	0.0406	17
201931	0.0199	4
17193	0.0047	1

Top tissues by expression

283 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	98.20	gold quality
right atrium auricular region	UBERON:0006631	97.70	gold quality
omental fat pad	UBERON:0010414	97.56	gold quality
peritoneum	UBERON:0002358	97.52	gold quality
mucosa of stomach	UBERON:0001199	97.42	gold quality
cardiac atrium	UBERON:0002081	97.20	gold quality
adipose tissue of abdominal region	UBERON:0007808	97.06	gold quality
subcutaneous adipose tissue	UBERON:0002190	96.88	gold quality
descending thoracic aorta	UBERON:0002345	96.58	gold quality
lower esophagus muscularis layer	UBERON:0035833	96.53	gold quality
left uterine tube	UBERON:0001303	96.51	gold quality
lower esophagus	UBERON:0013473	96.43	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	96.03	gold quality
right lobe of thyroid gland	UBERON:0001119	95.88	gold quality
tibial nerve	UBERON:0001323	95.78	gold quality
body of uterus	UBERON:0009853	95.64	gold quality
right coronary artery	UBERON:0001625	95.44	gold quality
endocervix	UBERON:0000458	95.40	gold quality
metanephros cortex	UBERON:0010533	95.18	gold quality
colonic epithelium	UBERON:0000397	95.07	gold quality
gall bladder	UBERON:0002110	95.06	gold quality
thoracic aorta	UBERON:0001515	94.94	gold quality
left lobe of thyroid gland	UBERON:0001120	94.85	gold quality
heart	UBERON:0000948	94.82	gold quality
ascending aorta	UBERON:0001496	94.82	gold quality
heart left ventricle	UBERON:0002084	94.74	gold quality
cardiac ventricle	UBERON:0002082	94.48	gold quality
adipose tissue	UBERON:0001013	94.44	gold quality
coronary artery	UBERON:0001621	94.40	gold quality
left coronary artery	UBERON:0001626	94.39	gold quality

Single-cell (SCXA)

Detected in 22 experiment(s), a significant marker in 20.

Experiment	Marker?	Max mean expression
E-MTAB-9067	yes	1097.72
E-MTAB-9388	yes	922.73
E-GEOD-124472	yes	649.57
E-MTAB-9801	yes	451.32
E-CURD-112	yes	377.07
E-CURD-77	yes	300.31
E-HCAD-4	yes	69.36
E-MTAB-10287	yes	66.32
E-GEOD-134144	yes	57.18
E-GEOD-135922	yes	44.55
E-HCAD-10	yes	43.44
E-HCAD-11	yes	42.09
E-HCAD-6	yes	35.55
E-MTAB-8410	yes	33.56
E-MTAB-6701	yes	32.09

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets.

Target	Regulation
ITGAM	Activation

Upstream regulators (CollecTRI, top): ACVRL1, BCL11A, CTCF, DMBX1, ENG, ETS2, FLI1, GFI1B, HOXA9, KAT6A, KMT2A, MYB, MYBL1, MYC, MZF1, NFATC2, RERE, RUNX1, SP1, SP7, SPI1, STAT5A, TAL1, WT1, ZBTB16, ZNF91

miRNA regulators (miRDB)

147 targeting CD34, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488

Literature-anchored findings (GeneRIF, showing 40)

• CD34 positive blood cell counts predict leukapheresis cd34 graft content for stem cell transplantation. (PMID:11757722)
• These findings demonstrate that cells with variable repopulation potential comprise the human CD34(+) population and that short- and long-term potential of human precursors can be evaluated in the mouse model (PMID:11782553)
• CD34 is a surface receptor molecule that is modulated by receptor-mediated endocytosis. (PMID:11798512)
• Differential regulation of the human and murine CD34 genes in hematopoietic stem cells (PMID:11983914)
• Immature CD34+CD19- progenitor/stem cells in TEL/AML1-positive acute lymphoblastic leukemia are genetically and functionally normal. (PMID:12091359)
• CD34 antigen has 3 epitopes differeing in sensitivity to enzymatic cleavage. These are expressed differently in different subtypes of acute myeloid leukemia and correlate with prognosis for disease-free survival. (PMID:12161354)
• Expression in uterine leiomyoma (PMID:12215337)
• The human CD34 locus from a human PAC library was characterized & expressed in stable cell lines & transgenic mice. A 160-kb fragment (110 kb of 5’ & 26 kb of 3’ flanking regions) directs hCD34 expression in the bone marrow of transgenic mice. (PMID:12393582)
• CD34 expression is reversible on human hematopoietic stem/progenitor cells (PMID:12393633)
• Regions between 10 to 18 kb upstream and/or 17 to 26 kb downstream of the human CD34 gene contain critical elements for human CD34 expression in vivo. (PMID:12393741)
• Expression in acute promyelocytic leukemia is a unique clinical feature associated with leukocytosis and atypical morphology with hypogranular pattern and is associated with a poor clinical outcome (PMID:12827650)
• CD34-positive stromal cells may play a supportive role in primary lung adenocarcinomas (PMID:12883699)
• Solitary sclerotic fibroma is a fibrotic lesion with cells positive for CD34 and O13. (PMID:14744088)
• Wild-type fms-related tyrosine kinase 3-overexpressing CD34+ cells exposed to high levels of its physiologic ligand did not produce early cobblestone areas (PMID:15242879)
• Cord blood cells contining cd34 antigens are can be expanded from placenta-derived mesenchymal progenitor cells. (PMID:15246162)
• CD34 antigen may play a role in hepatocarcinogenesis in patients with HBV-associated chronic liver diseases (PMID:15254762)
• Measurement of CD34 expression by LIN negative cells in expansion culture underestimates the total content of hematopoietic cells. (PMID:15277701)
• constitutive endocytosis of CXCR4 in human CD34+ hematopoietic progenitor cells may be involved in the regulation of trafficking the human hematopoietic progenitor/stem cells to and in the bone marrow microenvironment (PMID:15536192)
• CD34 may have a role in apoptosis and drug resistance in acute myeloid leukemia and myelodysplastic syndromes (PMID:15569991)
• The CD34 Antigen Expression was quantified using computerised image analysis. (PMID:15704650)
• resistance to CD95-mediated apoptosis in CD34+ progenitor cells might be controlled by caspase-8L expression in CD34+ progenitor cells (PMID:15735742)
• These results suggest that a co-culture of CD34+ cells with the MSCs might not simply deliver the proliferation signals but also stemness and survival signals, and overlap the action of epigenetic regulators. (PMID:15752760)
• mobilized CD34+ cells do not reside in G0, but in early G1 phase, and did not cross the restriction point into late G1 phase (PMID:15941859)
• patients with myelophthisis have increased circulating CD34+ cells (PMID:15996935)
• potential favourable effect of circulating CD34(+) cells on left ventricular function. (PMID:16051386)
• Findings suggest that CD34-positive mesenchymal cells are an integral component of elastofibroma, which represents a clonal fibrous proliferation. (PMID:16133360)
• The expression of beta-catenin, p63 and CD34 in the course of androgenetic alopecia is reported. (PMID:16133456)
• myeloma cells have plasticity expressed by their ability to reprogram, dedifferentiate, and acquire autonomous survival properties, as shown by the loss of CD34 expression in cocultured cells (PMID:16278377)
• expression of CD34 is of potential diagnostic value in the distinction between benign and malignant tumors in some difficult cases. (PMID:16286998)
• Results suggest that the interaction of the cytoplasmic tail of CD34 with the shallow proline-rich motif-binding groove of Crk-L is essential for the function of CD34 in stem cell development. (PMID:16305332)
• Microvessel density and CD34 expression was higher in nasal polyps than in normal tissue. (PMID:16398042)
• CD34 immunostaining provides some insights into the histogenesis of invasive and noninvasive implants in serous borderline tumors of the ovary. (PMID:16415795)
• new CD34 cell subpopulation, which is apparently a precursor classical endothelial progenitor cells more potent with respect too homing and vasscular repair. (PMID:16439688)
• Expression of HIF-1alpha mRNA was closely correlated with the expression of survivin, PCNA, and CD34 proteins in pancreatic cancer. (PMID:16552335)
• bone marrow stem cells contribute to the growing tumor vasculature in Ewing’s sarcoma and that vascular endothelial growth factor-165 is critical for the migration of CD34+ cells from the bone marrow into the tumor (PMID:16557578)
• The novel CD34+-derived DC represent attractive candidates for use in adoptive T-cell immunotherapy. (PMID:16698686)
• Results demonstrate that the optimum temperature for maintaining the viability of CD34+ cells, during overnight storage and transport of freshly harvested hematopoietic Progenitor Cells, is 2-8 degrees C. (PMID:16698689)
• Positivity of CD117 and CD34 is the most valuable factor in diagnosing gastrointestinal stromal tumor (GIST). (PMID:16830365)
• should be valuable to study virus-induced pathology and to rapidly evaluate new approaches aiming to prevent or treat HIV infection (PMID:17038503)
• The interactions of platelets and CD34+ progenitor cells in the generation of foam cells and endothelial cells are reported. (PMID:17077283)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	cd34	ENSDARG00000095268
danio_rerio	si:ch211-286o17.1	ENSDARG00000100446
mus_musculus	Cd34	ENSMUSG00000016494
rattus_norvegicus	Cd34	ENSRNOG00000045558

Protein

Protein identifiers

Hematopoietic progenitor cell antigen CD34 — P28906 (reviewed: P28906)

All UniProt accessions (2): P28906, Q5JTA5

UniProt curated annotations — full annotation on UniProt →

Function. Possible adhesion molecule with a role in early hematopoiesis by mediating the attachment of stem cells to the bone marrow extracellular matrix or directly to stromal cells. Could act as a scaffold for the attachment of lineage specific glycans, allowing stem cells to bind to lectins expressed by stromal cells or other marrow components. Presents carbohydrate ligands to selectins.

Subcellular location. Membrane.

Tissue specificity. Selectively expressed on hematopoietic progenitor cells and the small vessel endothelium of a variety of tissues.

Post-translational modifications. Highly glycosylated. Phosphorylated on serine residues by PKC.

Similarity. Belongs to the CD34 family.

Isoforms (2)

UniProt ID	Names	Canonical?
P28906-1	CD34-F	yes
P28906-2	CD34-T

RefSeq proteins (2): NP_001020280, NP_001764 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008083	CD34	Family
IPR013836	CD34/Podocalyxin	Family

Pfam: PF06365

UniProt features (28 total): glycosylation site 9, modified residue 3, sequence conflict 3, compositionally biased region 3, topological domain 2, splice variant 2, region of interest 2, signal peptide 1, chain 1, sequence variant 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P28906-F1	60.99	0.28

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (3): 329, 339, 346

Glycosylation sites (9): 36, 51, 55, 85, 107, 126, 142, 194, 249

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-198933	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell

MSigDB gene sets: 351 (showing top): VERHAAK_AML_WITH_NPM1_MUTATED_DN, GOBP_REGULATION_OF_VASCULOGENESIS, GOBP_EPITHELIUM_DEVELOPMENT, BENPORATH_ES_WITH_H3K27ME3, GOBP_METANEPHROS_DEVELOPMENT, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, PAL_PRMT5_TARGETS_UP, GOBP_VESICLE_ORGANIZATION, MODULE_45, GOBP_POSITIVE_REGULATION_OF_VASCULATURE_DEVELOPMENT, GOCC_CELL_SURFACE, HSIAO_HOUSEKEEPING_GENES, GAUSSMANN_MLL_AF4_FUSION_TARGETS_E_UP, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION, GOBP_KIDNEY_EPITHELIUM_DEVELOPMENT

GO Biological Process (27): tissue homeostasis (GO:0001894), endothelial cell proliferation (GO:0001935), glomerular filtration (GO:0003094), endothelium development (GO:0003158), cell-matrix adhesion (GO:0007160), signal transduction (GO:0007165), positive regulation of gene expression (GO:0010628), negative regulation of gene expression (GO:0010629), hemopoiesis (GO:0030097), negative regulation of interleukin-2 production (GO:0032703), mesangial cell-matrix adhesion (GO:0035759), paracrine signaling (GO:0038001), positive regulation of odontogenesis (GO:0042482), positive regulation of angiogenesis (GO:0045766), cell motility (GO:0048870), leukocyte migration (GO:0050900), transdifferentiation (GO:0060290), vascular wound healing (GO:0061042), hematopoietic stem cell proliferation (GO:0071425), positive regulation of granulocyte colony-stimulating factor production (GO:0071657), extracellular exosome assembly (GO:0071971), glomerular endothelium development (GO:0072011), stem cell proliferation (GO:0072089), metanephric glomerular mesangial cell differentiation (GO:0072254), cell-cell adhesion (GO:0098609), positive regulation of vasculogenesis (GO:2001214), cell adhesion (GO:0007155)

GO Molecular Function (4): carbohydrate binding (GO:0030246), sulfate binding (GO:0043199), RNA polymerase II-specific DNA-binding transcription factor binding (GO:0061629), protein binding (GO:0005515)

GO Cellular Component (13): extracellular region (GO:0005576), cytoplasm (GO:0005737), lysosome (GO:0005764), plasma membrane (GO:0005886), external side of plasma membrane (GO:0009897), basal plasma membrane (GO:0009925), apical plasma membrane (GO:0016324), glomerular endothelium fenestra (GO:0036053), intercellular bridge (GO:0045171), perinuclear region of cytoplasm (GO:0048471), cell surface (GO:0009986), membrane (GO:0016020), cell periphery (GO:0071944)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Adaptive Immune System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	7
cellular process	2
gene expression	2
regulation of gene expression	2
binding	2
plasma membrane region	2
multicellular organismal-level homeostasis	1
anatomical structure homeostasis	1
epithelial cell proliferation	1
renal filtration	1
epithelium development	1
cell-substrate adhesion	1
cell communication	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
positive regulation of macromolecule biosynthetic process	1
negative regulation of macromolecule biosynthetic process	1
cell development	1
negative regulation of cytokine production	1
interleukin-2 production	1
regulation of interleukin-2 production	1
cell-matrix adhesion	1
cell-cell signaling	1
odontogenesis	1
regulation of odontogenesis	1
positive regulation of animal organ morphogenesis	1
angiogenesis	1
regulation of angiogenesis	1
positive regulation of vasculature development	1
immune system process	1
cell migration	1
cell differentiation	1
angiogenesis involved in wound healing	1
hemopoiesis	1
stem cell proliferation	1
granulocyte colony-stimulating factor production	1
regulation of granulocyte colony-stimulating factor production	1
positive regulation of macrophage colony-stimulating factor production	1
anion binding	1

Protein interactions and networks

STRING

4918 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CD34	SELL	P14151	992
CD34	CD38	P28907	965
CD34	FN1	P02751	960
CD34	KIT	P10721	953
CD34	CD33	P20138	951
CD34	SELE	P16111	949
CD34	CSF3	P09919	941
CD34	KITLG	P21583	934
CD34	PROM1	O43490	927
CD34	PTPRC	P08575	917
CD34	THY1	P04216	915
CD34	ENG	P17813	914
CD34	CD44	P16070	913
CD34	PECAM1	P16284	908
CD34	NT5E	P21589	905

IntAct

7 interactions, top by confidence:

A	B	Type	Score
AGR2	CD34	psi-mi:“MI:0915”(physical association)	0.560
SELP	CD34	psi-mi:“MI:0407”(direct interaction)	0.440
CD34	SELL	psi-mi:“MI:0407”(direct interaction)	0.440
CD34	AGR2	psi-mi:“MI:0915”(physical association)	0.000
	CD34	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (3): CD34 (Two-hybrid), CRKL (Reconstituted Complex), CRKL (Affinity Capture-Western)

ESM2 similar proteins: A0A1B0GV85, A2ALI5, A2APT9, B0BN44, B1ARY8, B6ZI38, O14836, O35188, O55145, O60279, O60667, P07141, P09603, P0C8S2, P28906, P40225, P40226, P42705, P78423, Q06154, Q08DV9, Q13261, Q1ERP8, Q28270, Q2TB54, Q3UY90, Q4V9H3, Q4W8E7, Q5F267, Q5R770, Q60819, Q64314, Q6PAL1, Q6PCP7, Q6UXB8, Q80XI1, Q8BLK9, Q8CAE9, Q8CBC4, Q8JZQ0

Diamond homologs: P28906, Q28270, Q64314

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
SP1	“up-regulates quantity by expression”	CD34	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

60 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	46
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1465 predictions. Top by Δscore:

Variant	Effect	Δscore
1:207888680:ACCAG:A	donor_gain	1.0000
1:207888681:CCAGC:C	donor_gain	1.0000
1:207888684:G:A	donor_gain	1.0000
1:207888844:CAGCT:C	acceptor_gain	1.0000
1:207888848:T:C	acceptor_gain	1.0000
1:207888848:T:TC	acceptor_gain	1.0000
1:207889156:CTTA:C	donor_loss	1.0000
1:207889157:TTAC:T	donor_loss	1.0000
1:207889158:TACCT:T	donor_loss	1.0000
1:207897492:CA:C	donor_gain	1.0000
1:207897492:CACAG:C	donor_gain	1.0000
1:207900004:C:CC	acceptor_gain	1.0000
1:207911000:A:AC	donor_gain	1.0000
1:207911001:C:CC	donor_gain	1.0000
1:207911001:CGCAG:C	donor_gain	1.0000
1:207888676:ACT:A	donor_loss	0.9900
1:207888677:CTGA:C	donor_loss	0.9900
1:207888680:AC:A	donor_loss	0.9900
1:207888681:C:A	donor_loss	0.9900
1:207888681:CCAG:C	donor_gain	0.9900
1:207888691:T:TA	donor_gain	0.9900
1:207888842:CCCAG:C	acceptor_gain	0.9900
1:207888843:CCAGC:C	acceptor_gain	0.9900
1:207888844:CAG:C	acceptor_gain	0.9900
1:207888846:GCT:G	acceptor_loss	0.9900
1:207888847:C:CA	acceptor_loss	0.9900
1:207888847:C:CC	acceptor_gain	0.9900
1:207888848:T:A	acceptor_loss	0.9900
1:207889154:GACTT:G	donor_loss	0.9900
1:207889155:ACTT:A	donor_loss	0.9900

AlphaMissense

2457 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:207889614:A:C	F202C	0.991
1:207889613:A:C	F202L	0.982
1:207889613:A:T	F202L	0.982
1:207889615:A:G	F202L	0.982
1:207897560:C:G	C177S	0.980
1:207897561:A:T	C177S	0.980
1:207888749:G:T	A302D	0.978
1:207888839:A:G	I272T	0.978
1:207897561:A:G	C177R	0.976
1:207888761:C:T	G298E	0.975
1:207888770:A:T	V295D	0.974
1:207889614:A:G	F202S	0.974
1:207897521:C:G	C190S	0.974
1:207897522:A:T	C190S	0.974
1:207897522:A:G	C190R	0.972
1:207889575:C:G	C215S	0.970
1:207889576:A:T	C215S	0.970
1:207889512:G:A	S236F	0.969
1:207897518:A:G	L191P	0.969
1:207889495:A:G	C242R	0.967
1:207897494:C:G	C199S	0.966
1:207897495:A:G	C199R	0.966
1:207897495:A:T	C199S	0.966
1:207888762:C:G	G298R	0.965
1:207888762:C:T	G298R	0.965
1:207888731:C:T	G308D	0.964
1:207889494:C:G	C242S	0.964
1:207889495:A:T	C242S	0.964
1:207888741:C:G	G305R	0.963
1:207888740:C:T	G305D	0.962

dbSNP variants (sampled 300 via entrez): RS1000112813 (1:207883282 G>A), RS1000121734 (1:207903885 G>A), RS1000128898 (1:207890422 C>T), RS1000305138 (1:207910233 G>A,T), RS1000387776 (1:207893060 C>A), RS1000535692 (1:207898723 A>G), RS1000604189 (1:207898436 G>A,T), RS1000682889 (1:207884609 A>T), RS1000732447 (1:207886696 C>G), RS1000786007 (1:207893492 C>G), RS1000899049 (1:207898370 G>C), RS1000942783 (1:207898635 C>A,T), RS1001104801 (1:207911649 C>G,T), RS1001121597 (1:207905172 G>T), RS1001173242 (1:207891584 G>A)

Disease associations

OMIM: gene MIM:142230 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

18 associations (top):

Study	Trait	p-value
GCST000731_5	Resting heart rate	7.000000e-08
GCST001814_11	Age-related macular degeneration	5.000000e-06
GCST001814_23	Age-related macular degeneration	5.000000e-06
GCST001969_28	Heart rate	4.000000e-10
GCST002674_2	Febrile seizures (MMR vaccine-related)	1.000000e-10
GCST003818_63	Resting heart rate	5.000000e-31
GCST006291_100	Spherical equivalent or myopia (age of diagnosis)	8.000000e-09
GCST007217_5	RR interval (heart rate)	4.000000e-09
GCST007324_93	Adventurousness	6.000000e-09
GCST007325_264	General risk tolerance (MTAG)	6.000000e-14
GCST007325_5	General risk tolerance (MTAG)	5.000000e-09
GCST007329_20	Automobile speeding propensity	2.000000e-08
GCST007630_4	Drug experimentation measurement	2.000000e-06
GCST008058_297	Estimated glomerular filtration rate	3.000000e-11
GCST008059_158	Estimated glomerular filtration rate	5.000000e-11
GCST010002_375	Refractive error	2.000000e-54
GCST012490_390	Femur bone mineral density x serum urate levels interaction	4.000000e-08
GCST90013442_3	Keratoconus	8.000000e-09

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0006519	MMR-related febrile seizures
EFO:0004847	age at onset
EFO:0004831	RR interval
EFO:0008579	risk-taking behaviour
EFO:0007010	drug use measurement
EFO:0004531	urate measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

49 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression, decreases expression, decreases reaction	3
arsenite	increases expression, decreases reaction	2
(+)-JQ1 compound	decreases expression	2
Arsenic Trioxide	increases reaction, affects cotreatment, increases expression, decreases expression	2
Nickel	decreases expression	2
Tetrachlorodibenzodioxin	decreases expression	2
napabucasin	decreases expression	1
peracetylated N-azidoacetylmannosamine	decreases expression	1
pimagedine	decreases expression	1
bisphenol A	affects cotreatment, increases methylation, decreases methylation	1
2,5,2’,5’-tetrachlorobiphenyl	increases expression	1
o,p’-DDT	decreases expression	1
3,4,5,3’,4’-pentachlorobiphenyl	decreases expression	1
2,3,4,7,8-pentachlorodibenzofuran	decreases expression	1
evodiamine	decreases expression, decreases reaction	1
quinupristin-dalfopristin	increases expression	1
S 1 (combination)	decreases expression	1
monoisoamyl-2,3-dimercaptosuccinate	decreases expression, decreases reaction	1
CGP 52608	affects binding, increases reaction	1
3-nitrobenzanthrone	affects expression	1
clothianidin	increases expression	1
abrine	increases expression	1
ITX3 compound	affects response to substance	1
2-dodecyl-6-methoxycyclohexa-2,5-diene-1,4-dione	decreases expression	1
Valsartan	decreases expression	1
Zoledronic Acid	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Orlistat	affects cotreatment, decreases reaction, increases expression	1
Homoharringtonine	decreases expression, increases reaction	1
Asbestos	decreases expression	1

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B8CZ	Abcam HCT 116 CD34 KO	Cancer cell line	Male
CVCL_B9F7	Abcam A-549 CD34 KO	Cancer cell line	Male
CVCL_D2E8	Abcam MCF-7 CD34 KO	Cancer cell line	Female

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.