• Gene id: 961

Gene Summary

• Gene Symbol: CD47   Gene   UCSC   Ensembl
• Aliases: IAP, MER6, OA3
• Gene name: CD47 molecule
• Alternate names: leukocyte surface antigen CD47, CD47 antigen (Rh-related antigen, integrin-associated signal transducer), CD47 glycoprotein, Rh-related antigen, antigen identified by monoclonal antibody 1D8, antigenic surface determinant protein OA3, integrin associated protei,
• Gene location: 3q13.12 (108094199: 108043093)     Exons: 14     NC_000003.12
• Gene summary(Entrez): This gene encodes a membrane protein, which is involved in the increase in intracellular calcium concentration that occurs upon cell adhesion to extracellular matrix. The encoded protein is also a receptor for the C-terminal cell binding domain of thrombo
• OMIM: 601028

SNPs

rs7558708

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

NC_000002.12   g.73291739G>A
NC_000002.11   g.73518867G>A
NM_001965.4   c.1179C>T
NM_001965.3   c.1488C>T|SEQ=[G/A]|GENE=EGR4

rs2229294

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

NC_000002.12   g.73291405G>A
NC_000002.11   g.73518533G>A
NM_001965.4   c.*52C>T
NM_001965.3   c.*52C>T|SEQ=[G/A]|GENE=EGR4

rs771189047

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000002.12   g.73293568dup
NC_000002.11   g.73520696dup|SEQ=[-/C]|GENE=EGR4

rs561568849

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

NC_000002.12   g.73293413G>A
NC_000002.12   g.73293413G>T
NC_000002.11   g.73520541G>A
NC_000002.11   g.73520541G>T
NM_001965.4   c.-96C>T
NM_001965.4   c.-96C>A
NM_001965.3   c.214C>T
NM_001965.3   c.214C>A|SEQ=[G/A/T]|GENE=EGR4

rs763487015

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

NC_000002.12   g.73293391G>A
NC_000002.11   g.73520519G>A
NM_001965.4   c.-74C>T
NM_001965.3   c.236C>T|SEQ=[G/A]|GENE=EGR4

rs546250227

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

NC_000002.12   g.73291933C>A
NC_000002.11   g.73519061C>A
NM_001965.4   c.985G>T
NM_001965.3   c.1294G>T
NP_001956.4   p.Val329Leu|SEQ=[C/A]|GENE=EGR4

rs115948271

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

NC_000002.12   g.73292360G>C
NC_000002.11   g.73519488G>C
NM_001965.4   c.558C>G
NM_001965.3   c.867C>G|SEQ=[G/C]|GENE=EGR4

rs528939702

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

NC_000002.12   g.73291997C>T
NC_000002.11   g.73519125C>T
NM_001965.4   c.921G>A
NM_001965.3   c.1230G>A|SEQ=[C/T]|GENE=EGR4

Protein Summary

• Protein general information: Q08722  
  • Name: Leukocyte surface antigen CD47 (Antigenic surface determinant protein OA3) (Integrin associated protein) (IAP) (Protein MER6) (CD antigen CD47)
  • Length: 323  
  • Mass: 35214
  • Tissue specificity: Very broadly distributed on normal adult tissues, as well as ovarian tumors, being especially abundant in some epithelia and the brain.
• Sequence:

  MWPLVAALLLGSACCGSAQLLFNKTKSVEFTFCNDTVVIPCFVTNMEAQNTTEVYVKWKFKGRDIYTFDGALNKS
  TVPTDFSSAKIEVSQLLKGDASLKMDKSDAVSHTGNYTCEVTELTREGETIIELKYRVVSWFSPNENILIVIFPI
  FAILLFWGQFGIKTLKYRSGGMDEKTIALLVAGLVITVIVIVGAILFVPGEYSLKNATGLGLIVTSTGILILLHY
  YVFSTAIGLTSFVIAILVIQVIAYILAVVGLSLCIAACIPMHGPLLISGLSILALAQLLGLVYMKFVASNQKTIQ
  PPRKAVEEPLNAFKESKGMMNDE

• Structural information:
  • Protein Domains: (19..12-)
    (/note="Ig-like-V-type")
  • Interpro: IPR013147  IPR013270  IPR007110  IPR036179  IPR013783   IPR037805  
  • Prosite: PS50835
  • CDD: cd16090
  • PDB: 2JJS 2JJT 2VSC 4CMM 4KJY 5IWL 5TZ2 5TZT 5TZU
  • PDBsum: 2JJS 2JJT 2VSC 4CMM 4KJY 5IWL 5TZ2 5TZT 5TZU
  • DIP: 39948
  • STRING: ENSP00000355361
• Other Databases: GeneCards:  CD47  Malacards:  CD47

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0009986	cell surface	IDA	cellular component
GO:0086080	protein binding involved in heterotypic cell-cell adhesion	ISS	molecular function
GO:0098632	cell-cell adhesion mediator activity	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0035696	monocyte extravasation	ISS	biological process
GO:1905450	negative regulation of Fc-gamma receptor signaling pathway involved in phagocytosis	ISS	biological process
GO:0045428	regulation of nitric oxide biosynthetic process	ISS	biological process
GO:0016477	cell migration	ISS	biological process
GO:0009986	cell surface	ISS	cellular component
GO:0009986	cell surface	NAS	cellular component
GO:0009986	cell surface	ISS	cellular component
GO:0051496	positive regulation of stress fiber assembly	ISS	biological process
GO:0071346	cellular response to interferon-gamma	ISS	biological process
GO:0032649	regulation of interferon-gamma production	IMP	biological process
GO:0032655	regulation of interleukin-12 production	IMP	biological process
GO:0032680	regulation of tumor necrosis factor production	IMP	biological process
GO:0071347	cellular response to interleukin-1	ISS	biological process
GO:0071349	cellular response to interleukin-12	IMP	biological process
GO:0032675	regulation of interleukin-6 production	IMP	biological process
GO:0032653	regulation of interleukin-10 production	IMP	biological process
GO:0050766	positive regulation of phagocytosis	IBA	biological process
GO:0022409	positive regulation of cell-cell adhesion	IBA	biological process
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0070062	extracellular exosome	IBA	cellular component
GO:0070053	thrombospondin receptor activity	IBA	molecular function
GO:0050729	positive regulation of inflammatory response	IBA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007229	integrin-mediated signaling pathway	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0030198	extracellular matrix organization	TAS	biological process
GO:0035579	specific granule membrane	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0070821	tertiary granule membrane	TAS	cellular component
GO:0050900	leukocyte migration	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0006954	inflammatory response	IEA	biological process
GO:0045428	regulation of nitric oxide biosynthetic process	IEA	biological process
GO:0050766	positive regulation of phagocytosis	IEA	biological process
GO:0070487	monocyte aggregation	IEA	biological process
GO:0008228	opsonization	IEA	biological process
GO:0009617	response to bacterium	IEA	biological process
GO:0050729	positive regulation of inflammatory response	IEA	biological process
GO:0070062	extracellular exosome	IEA	cellular component
GO:0070053	thrombospondin receptor activity	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0034113	heterotypic cell-cell adhesion	IEA	biological process
GO:0008284	positive regulation of cell population proliferation	IDA	biological process
GO:0050870	positive regulation of T cell activation	IDA	biological process
GO:0022409	positive regulation of cell-cell adhesion	IDA	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04512	ECM-receptor interaction

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881