CD70 (CD70 molecule)

Gene

• Entrez ID: 970
• Gene name: CD70 molecule
• Gene symbol: CD70
• Synonyms: CD27-L, CD27L, CD27LG, LPFS3, TNFSF7, TNLG8A
• Chromosome: 19
• Chromosome location: 19p13.3
• Summary: The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for TNFRSF27/CD27. It is a surface antigen on activated, but not on resting, T and B lymphocytes. It induces proliferat

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs368303189	G>A	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1568431102	AAG>-	Pathogenic	Intron variant, coding sequence variant, inframe deletion
rs1568431262	A>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2196682	hsa-miR-3545-3p	CLIP-seq
MIRT2196683	hsa-miR-4635	CLIP-seq
MIRT2196684	hsa-miR-4753-3p	CLIP-seq
MIRT2196685	hsa-miR-4768-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
RFX1	Unknown	21192791

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002020	Function	Protease binding	IPI	12777399
GO:0002456	Process	T cell mediated immunity	IMP	28011863, 28011864
GO:0005102	Function	Signaling receptor binding	TAS	8120384, 8387892
GO:0005125	Function	Cytokine activity	IMP	28011863, 28011864
GO:0005164	Function	Tumor necrosis factor receptor binding	IEA
GO:0005515	Function	Protein binding	IPI	12324477, 32296183
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	IDA	11920585
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	TAS	8120384
GO:0007165	Process	Signal transduction	TAS	8387892
GO:0007267	Process	Cell-cell signaling	TAS	8387892
GO:0019724	Process	B cell mediated immunity	IMP	28011863, 28011864
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	TAS
GO:0042100	Process	B cell proliferation	IMP	28011863, 28011864
GO:0042102	Process	Positive regulation of T cell proliferation	TAS	8120384
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0097191	Process	Extrinsic apoptotic signaling pathway	IDA	9177220

Other IDs

• MIM: 602840
• HGNC: 11937
• e!Ensembl: ENSG00000125726

Protein

• UniProt ID: P32970
• Protein name: CD70 antigen (CD27 ligand) (CD27-L) (Tumor necrosis factor ligand superfamily member 7) (CD antigen CD70)
• Protein function: Expressed at the plasma membrane of B cells, it is the ligand of the CD27 receptor which is specifically expressed at the surface of T cells (PubMed:28011863, PubMed:28011864, PubMed:8387892). The CD70-CD27 signaling pathway mediates antigen-spe
• PDB: 7KX0
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00229	TNF	73 → 191	TNF(Tumour Necrosis Factor) family	Domain

• Sequence:

  MPEEGSGCSVRRRPYGCVLRAALVPLVAGLVICLVVCIQRFAQAQQQLPLESLGWDVAEL
  QLNHTGPQQDPRLYWQGGPALGRSFLHGPELDKGQLRIHRDGIYMVHIQVTLAICSSTTA
  SRHHPTTLAVGICSPASRSISLLRLSFHQGCTIASQRLTPLARGDTLCTNLTGTLLPSRN
  TDETFFGVQWVRP

• Sequence length: 193

Pathways

KEGG:

Cytokine-cytokine receptor interaction

Reactome:

TNFs bind their physiological receptors

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Lymphoproliferative disorder	Combined immunodeficiency due to CD70 deficiency, Lymphoproliferative Disorders, LYMPHOPROLIFERATIVE SYNDROME 3	rs121908191, rs398122933, rs397514667, rs397514260, rs397514261, rs748418658, rs781593353	29434583, 28011864, 28011863
Severe combined immunodeficiency disease	Combined immunodeficiency	rs886037607, rs118203993, rs121908714, rs121908739, rs121908740, rs121908735, rs121908721, rs121908722, rs121908156, rs1564414523, rs1564418254, rs1564446526, rs786205074, rs121908157, rs121908159, rs786200884, rs397515357, rs104894562, rs137852624, rs137852625, rs137852626, rs137852627, rs137852507, rs137852509, rs111033619, rs111033620, rs1569480018, rs111033621, rs137852510, rs587776729, rs111033622, rs111033617, rs111033618, rs121917894, rs121917896, rs2133313409, rs121917897, rs28933392, rs104894282, rs104894283, rs104894285, rs121918570, rs121918572, rs730880318, rs104893674, rs730880319, rs104894453, rs104894454, rs104894451, rs137853206, rs777503956, rs267606645, rs267606648, rs397515390, rs193922346, rs193922347, rs193922348, rs193922349, rs193922350, rs137852508, rs193922640, rs193922641, rs193922643, rs193922645, rs193922361, rs193922364, rs193922464, rs148508754, rs193922574, rs113994174, rs606231246, rs397514671, rs397514686, rs397514755, rs199474679, rs199474685, rs199474686, rs199474681, rs150739647, rs267605358, rs886041036, rs587777335, rs587778405, rs145092287, rs587777562, rs606231256, rs200296680, rs786205456, rs786205517, rs774202259, rs786205615, rs878853261, rs786205890, rs782753385, rs746052951, rs869025224, rs869312857, rs869320660, rs869320659, rs869320658, rs879253742, rs886037924, rs886037925, rs750610248, rs886039394, rs761242509, rs886039387, rs886041043, rs886041044, rs886042051, rs886041333, rs749481781, rs1057517747, rs1057519506, rs1057523762, rs1057521062, rs1057520644, rs761583890, rs751635016, rs55729925, rs1064793248, rs1064793347, rs1064794027, rs781410769, rs1555524788, rs1486760100, rs769633203, rs1556330713, rs1555322558, rs1556330234, rs1556330755, rs1556329779, rs1556330552, rs1556329822, rs1556330286, rs1556331272, rs2146178281, rs376610445, rs757797994, rs775704953, rs1555743321, rs1564995660, rs1564995662, rs1556330249, rs144104577, rs886041796, rs1026474882, rs570768621, rs1556330562, rs1556330568, rs780014431, rs778343059, rs1555844617, rs1567629968, rs1567628757, rs1567629943, rs1567632864, rs1567632829, rs1567626023, rs1559328006, rs1561423197, rs1452483770, rs1568400897, rs1569479913, rs1568404443, rs1569480047, rs1563340753, rs368303189, rs1568431262, rs1568431102, rs1561424886, rs1602289943, rs1241698978, rs1569479994, rs1569480082, rs1602289649, rs1573261820, rs770985198, rs1589050343, rs1340132582, rs1589064324, rs1589070600, rs1213680890, rs149316157, rs1599873591, rs755706305, rs1602288051, rs1602289411, rs1602289183, rs1583513256, rs1589136659, rs1380154594, rs1011307501, rs1599876167, rs1569967422, rs1602289631, rs1573262398, rs760191638, rs1592117677, rs1640406042, rs372597855, rs1839558393, rs1839622622, rs1839957089, rs777008519, rs1233957241, rs2092261618, rs1839255008, rs1677695565, rs936493226, rs1162344514, rs991089005	29434583