• Gene id: 214

Gene Summary

• Gene Symbol: ALCAM   Gene   UCSC   Ensembl
• Aliases: CD166, MEMD
• Gene name: activated leukocyte cell adhesion molecule
• Alternate names: CD166 antigen,
• Gene location: 3q13.11 (105366712: 105576899)     Exons: 16     NC_000003.12
• Gene summary(Entrez): This gene encodes activated leukocyte cell adhesion molecule (ALCAM), also known as CD166 (cluster of differentiation 166), which is a member of a subfamily of immunoglobulin receptors with five immunoglobulin-like domains (VVC2C2C2) in the extracellular
• OMIM: 601662

SNPs

rs397515340

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

NC_000006.12   g.43670919_43670921GAA[1]
NC_000006.12   g.43670919_43670921GAA[3]
NC_000006.11   g.43638656_43638658GAA[1]
NC_000006.11   g.43638656_43638658GAA[3]
NG_023436.1   g.30890_30892GAA[1]
NG_023436.1   g.30890_30892GAA[3]
NM_152732.5   c.801_803GAA[1]
NM  

Protein Summary

• Protein general information: Q13740  
  • Name: CD166 antigen (Activated leukocyte cell adhesion molecule) (CD antigen CD166)
  • Length: 583  
  • Mass: 65102
  • Tissue specificity: Detected on hematopoietic stem cells derived from umbilical cord blood (PubMed
• Sequence:

  MESKGASSCRLLFCLLISATVFRPGLGWYTVNSAYGDTIIIPCRLDVPQNLMFGKWKYEKPDGSPVFIAFRSSTK
  KSVQYDDVPEYKDRLNLSENYTLSISNARISDEKRFVCMLVTEDNVFEAPTIVKVFKQPSKPEIVSKALFLETEQ
  LKKLGDCISEDSYPDGNITWYRNGKVLHPLEGAVVIIFKKEMDPVTQLYTMTSTLEYKTTKADIQMPFTCSVTYY
  GPSGQKTIHSEQAVFDIYYPTEQVTIQVLPPKNAIKEGDNITLKCLGNGNPPPEEFLFYLPGQPEGIRSSNTYTL
  TDVRRNATGDYKCSLIDKKSMIASTAITVHYLDLSLNPSGEVTRQIGDALPVSCTISASRNATVVWMKDNIRLRS
  SPSFSSLHYQDAGNYVCETALQEVEGLKKRESLTLIVEGKPQIKMTKKTDPSGLSKTIICHVEGFPKPAIQWTIT
  GSGSVINQTEESPYINGRYYSKIIISPEENVTLTCTAENQLERTVNSLNVSAISIPEHDEADEISDENREKVNDQ
  AKLIVGIVVGLLLAALVAGVVYWLYMKKSKTASKHVNKDLGNMEENKKLEENNHKTEA

• Structural information:
  • Protein Domains: (28..12-)
    1 (/note="Ig-like-V-type)
    (125..23-)
    2 (/note="Ig-like-V-type)
    (245..32-)
    1 (/note="Ig-like-C2-type)
    (333..40-)
    2 (/note="Ig-like-C2-type)
    (416..50-)
    3" (/note="Ig-like-C2-type)
  • Interpro: IPR039810  IPR013162  IPR007110  IPR036179  IPR013783   IPR003599  IPR003598  IPR013106  
  • Prosite: PS50835
  • PDB: 1KJC 5A2F
  • PDBsum: 1KJC 5A2F
  • DIP: 39093
  • STRING: ENSP00000305988
• Other Databases: GeneCards:  ALCAM  Malacards:  ALCAM

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001772	immunological synapse	IDA	cellular component
GO:0042101	T cell receptor complex	IDA	colocalizes with
GO:0031226	intrinsic component of plasma membrane	IDA	cellular component
GO:0030424	axon	ISS	cellular component
GO:0048846	axon extension involved in axon guidance	ISS	biological process
GO:0031290	retinal ganglion cell axon guidance	ISS	biological process
GO:0007157	heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	IMP	biological process
GO:0005887	integral component of plasma membrane	ISS	cellular component
GO:1990138	neuron projection extension	ISS	biological process
GO:0007155	cell adhesion	ISS	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0002376	immune system process	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0002250	adaptive immune response	IEA	biological process
GO:0005102	signaling receptor binding	TAS	molecular function
GO:0007155	cell adhesion	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0042802	identical 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:0005515	protein binding	IPI	molecular function
GO:0030424	axon	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0009897	external side of plasma membrane	IEA	cellular component
GO:0008045	motor neuron axon guidance	IEA	biological process
GO:0007411	axon guidance	IEA	biological process
GO:0030424	axon	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005925	focal adhesion	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04514	Cell adhesion molecules

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray