• Gene id: 101

Gene Summary

• Gene Symbol: ADAM8   Gene   UCSC   Ensembl
• Aliases: CD156, CD156a, MS2
• Gene name: ADAM metallopeptidase domain 8
• Alternate names: disintegrin and metalloproteinase domain-containing protein 8, a disintegrin and metalloproteinase domain 8, cell surface antigen MS2, human leukocyte differentiation antigen,
• Gene location: 10q26.3 (133276890: 133262421)     Exons: 24     NC_000010.11
• Gene summary(Entrez): This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes
• OMIM: 618708

SNPs

rs879255539

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

NC_000023.11   g.19003070_19003074delinsTCT
NC_000023.10   g.19021188_19021192delinsTCT
NG_021304.1   g.124564_124568delinsAGA
NM_005756.3   c.1993_1997delinsAGA
NM_005756.4   c.1993_1997delinsAGA
NM_001079858.3   c.2002_2006delinsAGA
NM_001079858.2   c.2002_2006d

rs879255538

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

NC_000023.11   g.18994921del
NC_000023.10   g.19013039del
NG_021304.1   g.132718del
NM_005756.3   c.2836del
NM_005756.4   c.2836del
NM_001079858.3   c.2845del
NM_001079858.2   c.2845del
NM_001079859.2   c.2803del
NM_001079859.3   c.2803del
NM_001079860.2   c.2779del
NM_  

rs62180545

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

NC_000002.12   g.216859821A>G
NC_000002.11   g.217724544A>G|SEQ=[A/G]|GENE=TNP1
LOC101928278   101928278

rs13206743

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

NC_000006.12   g.52152310T>C
NC_000006.11   g.52017108T>C|SEQ=[T/C]|GENE=LINCMD1

rs724078

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

NC_000006.12   g.29521271G>A
NC_000006.11   g.29489048G>A
NT_113891.3   g.1007734G>A
NT_113891.2   g.1007840G>A
NT_167248.2   g.786742A>G
NT_167248.1   g.792338A>G
NT_167245.2   g.786798G>A
NT_167245.1   g.792383G>A
NT_167249.2   g.830287G>A
NT_167249.1   g.829585G>A
NT  

rs10250822

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

NC_000007.14   g.17293365C>A
NC_000007.14   g.17293365C>G
NC_000007.14   g.17293365C>T
NC_000007.13   g.17332989C>A
NC_000007.13   g.17332989C>G
NC_000007.13   g.17332989C>T|SEQ=[C/A/G/T]|GENE=LOC101927609

rs10247158

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

NC_000007.14   g.17285544A>T
NC_000007.13   g.17325168A>T|SEQ=[A/T]|GENE=LOC101927609

rs7174015

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

NC_000015.10   g.50424871G>A
NC_000015.10   g.50424871G>T
NC_000015.9   g.50717068G>A
NC_000015.9   g.50717068G>T
NG_047101.1   g.5495G>A
NG_047101.1   g.5495G>T|SEQ=[G/A/T]|GENE=USP8

rs10762738

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

NC_000010.11   g.76935709A>G
NC_000010.10   g.78695467A>G
NG_012270.1   g.707111T>C|SEQ=[A/G]|GENE=KCNMA1
KCNMA1-AS1   101929328

rs10249788

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

NC_000007.14   g.17298523C>G
NC_000007.14   g.17298523C>T
NC_000007.13   g.17338147C>G
NC_000007.13   g.17338147C>T
XR_927073.2   n.16G>C
XR_927073.2   n.16G>A|SEQ=[C/G/T]|GENE=AHR
LOC101927609   101927609

rs3757824

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

NC_000007.14   g.17296411T>C
NC_000007.14   g.17296411T>G
NC_000007.13   g.17336035T>C
NC_000007.13   g.17336035T>G|SEQ=[T/C/G]|GENE=LOC101927609

rs498422

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

NC_000006.12   g.32318984T>G
NC_000006.11   g.32286761T>G
NT_113891.3   g.3757457T>G
NT_113891.2   g.3757563T>G
NT_167248.2   g.3542362G>T
NT_167248.1   g.3547958G>T
NT_167245.2   g.3560446T>G
NT_167245.1   g.3566031T>G
NT_167249.2   g.3635248T>G
NT_167249.1   g.3634546

rs1042838

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

NC_000011.10   g.101062681C>A
NC_000011.10   g.101062681C>G
NC_000011.9   g.100933412C>A
NC_000011.9   g.100933412C>G
NG_016475.1   g.72133G>T
NG_016475.1   g.72133G>C
NM_000926.4   c.1978G>T
NM_000926.4   c.1978G>C
NM_001202474.3   c.1486G>T
NM_001202474.3   c.1486G>C
  

rs2241769

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

NC_000015.10   g.50424436G>A
NC_000015.10   g.50424436G>C
NC_000015.9   g.50716633G>A
NC_000015.9   g.50716633G>C
NG_047101.1   g.5060G>A
NG_047101.1   g.5060G>C
NM_001128610.2   c.-284G>A
NM_001128610.2   c.-284G>C
NM_001128610.3   c.-284G>A
NM_001128610.3   c.-284G>C
  

rs3743044

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

NC_000015.10   g.50481590A>G
NC_000015.9   g.50773787A>G
NG_047101.1   g.62214A>G
NM_001128610.2   c.1328A>G
NM_001128610.3   c.1328A>G
NM_001128610.1   c.1328A>G
NM_005154.5   c.1328A>G
NM_005154.4   c.1328A>G
NM_005154.3   c.1328A>G
XM_006720761.3   c.1328A>G
XM_00672  

Protein Summary

• Protein general information: P78325  
  • Name: Disintegrin and metalloproteinase domain containing protein 8 (ADAM 8) (EC 3.4.24. ) (Cell surface antigen MS2) (CD antigen CD156a)
  • Length: 824  
  • Mass: 88771
  • Tissue specificity: Expressed on neutrophils and monocytes.
• Sequence:

  MRGLGLWLLGAMMLPAIAPSRPWALMEQYEVVLPWRLPGPRVRRALPSHLGLHPERVSYVLGATGHNFTLHLRKN
  RDLLGSGYTETYTAANGSEVTEQPRGQDHCFYQGHVEGYPDSAASLSTCAGLRGFFQVGSDLHLIEPLDEGGEGG
  RHAVYQAEHLLQTAGTCGVSDDSLGSLLGPRTAAVFRPRPGDSLPSRETRYVELYVVVDNAEFQMLGSEAAVRHR
  VLEVVNHVDKLYQKLNFRVVLVGLEIWNSQDRFHVSPDPSVTLENLLTWQARQRTRRHLHDNVQLITGVDFTGTT
  VGFARVSAMCSHSSGAVNQDHSKNPVGVACTMAHEMGHNLGMDHDENVQGCRCQERFEAGRCIMAGSIGSSFPRM
  FSDCSQAYLESFLERPQSVCLANAPDLSHLVGGPVCGNLFVERGEQCDCGPPEDCRNRCCNSTTCQLAEGAQCAH
  GTCCQECKVKPAGELCRPKKDMCDLEEFCDGRHPECPEDAFQENGTPCSGGYCYNGACPTLAQQCQAFWGPGGQA
  AEESCFSYDILPGCKASRYRADMCGVLQCKGGQQPLGRAICIVDVCHALTTEDGTAYEPVPEGTRCGPEKVCWKG
  RCQDLHVYRSSNCSAQCHNHGVCNHKQECHCHAGWAPPHCAKLLTEVHAASGSLPVFVVVVLVLLAVVLVTLAGI
  IVYRKARSRILSRNVAPKTTMGRSNPLFHQAASRVPAKGGAPAPSRGPQELVPTTHPGQPARHPASSVALKRPPP
  APPVTVSSPPFPVPVYTRQAPKQVIKPTFAPPVPPVKPGAGAANPGPAEGAVGPKVALKPPIQRKQGAGAPTAP

• Structural information:
  • Protein Domains: (200..40-)
    (/note="Peptidase-M12B)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00276-)
    (408..49-)
    (/note="Disintegrin-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00068-)
    (609..64-)
    (/note="EGF-like-)
    (/evidence="ECO:0000255|PROSITE-ProR-)
  • Interpro: IPR006586  IPR018358  IPR001762  IPR036436  IPR013032   IPR000742  IPR024079  IPR001590  IPR002870  IPR034027  
  • Prosite: PS50215 PS00427 PS50214 PS01186 PS50026 PS00142
  • CDD: cd04269
  • PDB: 4DD8
  • PDBsum: 4DD8
  • STRING: ENSP00000453302
• Other Databases: GeneCards:  ADAM8  Malacards:  ADAM8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0004222	metalloendopeptidase activity	IEA	molecular function
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	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:0035579	specific granule membrane	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0070821	tertiary granule membrane	TAS	cellular component
GO:0101003	ficolin-1-rich granule membrane	TAS	cellular component
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0022617	extracellular matrix disassembly	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:2000418	positive regulation of eosinophil migration	IEA	biological process
GO:2000406	positive regulation of T cell migration	IEA	biological process
GO:2000309	positive regulation of tumor necrosis factor (ligand) superfamily member 11 production	IEA	biological process
GO:0098609	cell-cell adhesion	IEA	biological process
GO:0071133	alpha9-beta1 integrin-ADAM8 complex	IEA	cellular component
GO:0070245	positive regulation of thymocyte apoptotic process	IEA	biological process
GO:0051092	positive regulation of NF-kappaB transcription factor activity	IEA	biological process
GO:0050729	positive regulation of inflammatory response	IEA	biological process
GO:0045780	positive regulation of bone resorption	IEA	biological process
GO:0043406	positive regulation of MAP kinase activity	IEA	biological process
GO:0033089	positive regulation of T cell differentiation in thymus	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0002675	positive regulation of acute inflammatory response	IEA	biological process
GO:0002523	leukocyte migration involved in inflammatory response	IEA	biological process
GO:0001525	angiogenesis	IEA	biological process
GO:0000902	cell morphogenesis	IEA	biological process
GO:2000415	positive regulation of fibronectin-dependent thymocyte migration	IEA	biological process
GO:0051897	positive regulation of protein kinase B signaling	IEA	biological process
GO:0051044	positive regulation of membrane protein ectodomain proteolysis	IEA	biological process
GO:0050839	cell adhesion molecule binding	IEA	molecular function
GO:0048247	lymphocyte chemotaxis	IEA	biological process
GO:0045785	positive regulation of cell adhesion	IEA	biological process
GO:0045089	positive regulation of innate immune response	IEA	biological process
GO:0043524	negative regulation of neuron apoptotic process	IEA	biological process
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0002693	positive regulation of cellular extravasation	IEA	biological process
GO:0005509	calcium ion binding	ISS	molecular function
GO:0008270	zinc ion binding	TAS	molecular function
GO:0008237	metallopeptidase activity	IDA	molecular function
GO:0008237	metallopeptidase activity	IDA	molecular function
GO:0008237	metallopeptidase activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043621	protein self-association	TAS	molecular function
GO:0050839	cell adhesion molecule binding	IPI	molecular function
GO:0050839	cell adhesion molecule binding	IPI	molecular function
GO:0050839	cell adhesion molecule binding	IPI	molecular function
GO:0002102	podosome	IDA	cellular component
GO:0022407	regulation of cell-cell adhesion	IDA	biological process
GO:0032010	phagolysosome	IDA	cellular component
GO:0032127	dense core granule membrane	IDA	cellular component
GO:0070820	tertiary granule	IDA	cellular component
GO:0071456	cellular response to hypoxia	IDA	biological process
GO:0000902	cell morphogenesis	ISS	biological process
GO:0001525	angiogenesis	ISS	biological process
GO:0002523	leukocyte migration involved in inflammatory response	ISS	biological process
GO:0002675	positive regulation of acute inflammatory response	ISS	biological process
GO:0010954	positive regulation of protein processing	NAS	biological process
GO:0033089	positive regulation of T cell differentiation in thymus	ISS	biological process
GO:0045780	positive regulation of bone resorption	ISS	biological process
GO:0051092	positive regulation of NF-kappaB transcription factor activity	ISS	biological process
GO:0070245	positive regulation of thymocyte apoptotic process	ISS	biological process
GO:0071133	alpha9-beta1 integrin-ADAM8 complex	ISS	cellular component
GO:2000309	positive regulation of tumor necrosis factor (ligand) superfamily member 11 production	ISS	biological process
GO:2000418	positive regulation of eosinophil migration	ISS	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0006954	inflammatory response	IDA	biological process
GO:0009986	cell surface	IDA	cellular component
GO:0042581	specific granule	IDA	cellular component
GO:0050714	positive regulation of protein secretion	IC	biological process
GO:0051044	positive regulation of membrane protein ectodomain proteolysis	IDA	biological process
GO:0051044	positive regulation of membrane protein ectodomain proteolysis	IDA	biological process
GO:0071065	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex	IDA	colocalizes with
GO:2000391	positive regulation of neutrophil extravasation	IDA	biological process
GO:0043406	positive regulation of MAP kinase activity	ISS	biological process
GO:0043524	negative regulation of neuron apoptotic process	ISS	biological process
GO:0045785	positive regulation of cell adhesion	ISS	biological process
GO:0048247	lymphocyte chemotaxis	ISS	biological process
GO:0051897	positive regulation of protein kinase B signaling	ISS	biological process
GO:2000415	positive regulation of fibronectin-dependent thymocyte migration	ISS	biological process
GO:0045089	positive regulation of innate immune response	ISS	biological process
GO:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
Asthma	PMID:17339047
pancreatic ductal carcinoma	PMID:17979891
Pulmonary eosinophilia	PMID:19625177
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray