• Gene id: 1006

Gene Summary

• Gene Symbol: CDH8   Gene   UCSC   Ensembl
• Aliases: Nbla04261
• Gene name: cadherin 8
• Alternate names: cadherin-8, cadherin 8, type 2,
• Gene location: 16q21 (62036445: 61640397)     Exons: 14     NC_000016.10
• Gene summary(Entrez): This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane
• OMIM: 601191

SNPs

rs4680

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

NC_000022.11   g.19963748G>A
NC_000022.10   g.19951271G>A
NG_011526.1   g.27009G>A
NM_000754.4   c.472G>A
NM_000754.3   c.472G>A
NM_007310.3   c.322G>A
NM_007310.2   c.322G>A
NM_001362828.2   c.472G>A
NM_001362828.1   c.472G>A
NM_001135161.2   c.472G>A
NM_001135161.1   c.

Protein Summary

• Protein general information: P55286  
  • Name: Cadherin 8
  • Length: 799  
  • Mass: 88253
  • Tissue specificity: Mainly expressed in brain. Found in certain nerve cell lines, such as retinoblasts, glioma cells and neuroblasts.
• Sequence:

  MPERLAEMLLDLWTPLIILWITLPPCIYMAPMNQSQVLMSGSPLELNSLGEEQRILNRSKRGWVWNQMFVLEEFS
  GPEPILVGRLHTDLDPGSKKIKYILSGDGAGTIFQINDVTGDIHAIKRLDREEKAEYTLTAQAVDWETSKPLEPP
  SEFIIKVQDINDNAPEFLNGPYHATVPEMSILGTSVTNVTATDADDPVYGNSAKLVYSILEGQPYFSIEPETAII
  KTALPNMDREAKEEYLVVIQAKDMGGHSGGLSGTTTLTVTLTDVNDNPPKFAQSLYHFSVPEDVVLGTAIGRVKA
  NDQDIGENAQSSYDIIDGDGTALFEITSDAQAQDGIIRLRKPLDFETKKSYTLKVEAANVHIDPRFSGRGPFKDT
  ATVKIVVEDADEPPVFSSPTYLLEVHENAALNSVIGQVTARDPDITSSPIRFSIDRHTDLERQFNINADDGKITL
  ATPLDRELSVWHNITIIATEIRNHSQISRVPVAIKVLDVNDNAPEFASEYEAFLCENGKPGQVIQTVSAMDKDDP
  KNGHYFLYSLLPEMVNNPNFTIKKNEDNSLSILAKHNGFNRQKQEVYLLPIIISDSGNPPLSSTSTLTIRVCGCS
  NDGVVQSCNVEAYVLPIGLSMGALIAILACIILLLVIVVLFVTLRRHKNEPLIIKDDEDVRENIIRYDDEGGGEE
  DTEAFDIATLQNPDGINGFLPRKDIKPDLQFMPRQGLAPVPNGVDVDEFINVRLHEADNDPTAPPYDSIQIYGYE
  GRGSVAGSLSSLESTTSDSDQNFDYLSDWGPRFKRLGELYSVGESDKET

• Structural information:
  • Protein Domains: (62..16-)
    (/note="Cadherin-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00043-)
    (168..27-)
    (/note="Cadherin-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00043-)
    (277..39-)
    (/note="Cadherin-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:-)
  • Interpro: IPR039808  IPR002126  IPR015919  IPR020894  IPR000233   IPR027397  
  • Prosite: PS00232 PS50268
  • STRING: ENSP00000462701
• Other Databases: GeneCards:  CDH8  Malacards:  CDH8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0098742	cell-cell adhesion via plasma-membrane adhesion molecules	IBA	biological process
GO:0045296	cadherin binding	IBA	molecular function
GO:0044331	cell-cell adhesion mediated by cadherin	IBA	biological process
GO:0043083	synaptic cleft	IBA	cellular component
GO:0035249	synaptic transmission, glutamatergic	IBA	biological process
GO:0034332	adherens junction organization	IBA	biological process
GO:0005912	adherens junction	IBA	cellular component
GO:0005509	calcium ion binding	IBA	molecular function
GO:0000902	cell morphogenesis	IBA	biological process
GO:0043679	axon terminus	IBA	cellular component
GO:0016342	catenin complex	IBA	cellular component
GO:0016339	calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules	IBA	biological process
GO:0007275	multicellular organism development	IBA	biological process
GO:0007043	cell-cell junction assembly	IBA	biological process
GO:0005509	calcium ion binding	IEA	molecular function
GO:0098609	cell-cell adhesion	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0007156	homophilic cell adhesion via plasma membrane adhesion molecules	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0007155	cell adhesion	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007155	cell adhesion	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0034332	adherens junction organization	TAS	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0043083	synaptic cleft	IEA	cellular component
GO:0035249	synaptic transmission, glutamatergic	IEA	biological process
GO:0007268	chemical synaptic transmission	IEA	biological process
GO:0097060	synaptic membrane	IEA	cellular component
GO:0050807	regulation of synapse organization	IEA	biological process
GO:0043679	axon terminus	IEA	cellular component
GO:0042802	identical protein binding	IEA	molecular function
GO:0009409	response to cold	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
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