• Gene id: 1010

Gene Summary

• Gene Symbol: CDH12   Gene   UCSC   Ensembl
• Aliases: CDHB
• Gene name: cadherin 12
• Alternate names: cadherin-12, Br-cadherin, N-cadherin 2, brain-cadherin, cadherin, neural type, 2, neural type cadherin 2, neuronal cadherin 2,
• Gene location: 5p14.3 (22853343: 21750672)     Exons: 65     NC_000005.10
• Gene summary(Entrez): This gene encodes a type II classical cadherin of the cadherin superfamily. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the
• OMIM: 600562

SNPs

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
  

Protein Summary

• Protein general information: P55289  
  • Name: Cadherin 12 (Brain cadherin) (BR cadherin) (Neural type cadherin 2) (N cadherin 2)
  • Length: 794  
  • Mass: 88332
  • Tissue specificity: Brain.
• Sequence:

  MLTRNCLSLLLWVLFDGGLLTPLQPQPQQTLATEPRENVIHLPGQRSHFQRVKRGWVWNQFFVLEEYVGSEPQYV
  GKLHSDLDKGEGTVKYTLSGDGAGTVFTIDETTGDIHAIRSLDREEKPFYTLRAQAVDIETRKPLEPESEFIIKV
  QDINDNEPKFLDGPYVATVPEMSPVGAYVLQVKATDADDPTYGNSARVVYSILQGQPYFSIDPKTGVIRTALPNM
  DREVKEQYQVLIQAKDMGGQLGGLAGTTIVNITLTDVNDNPPRFPKSIFHLKVPESSPIGSAIGRIRAVDPDFGQ
  NAEIEYNIVPGDGGNLFDIVTDEDTQEGVIKLKKPLDFETKKAYTFKVEASNLHLDHRFHSAGPFKDTATVKISV
  LDVDEPPVFSKPLYTMEVYEDTPVGTIIGAVTAQDLDVGSSAVRYFIDWKSDGDSYFTIDGNEGTIATNELLDRE
  STAQYNFSIIASKVSNPLLTSKVNILINVLDVNEFPPEISVPYETAVCENAKPGQIIQIVSAADRDLSPAGQQFS
  FRLSPEAAIKPNFTVRDFRNNTAGIETRRNGYSRRQQELYFLPVVIEDSSYPVQSSTNTMTIRVCRCDSDGTILS
  CNVEAIFLPVGLSTGALIAILLCIVILLAIVVLYVALRRQKKKDTLMTSKEDIRDNVIHYDDEGGGEEDTQAFDI
  GALRNPKVIEENKIRRDIKPDSLCLPRQRPPMEDNTDIRDFIHQRLQENDVDPTAPPYDSLATYAYEGSGSVAES
  LSSIDSLTTEADQDYDYLTDWGPRFKVLADMFGEEESYNPDKVT

• Structural information:
  • Protein Domains: (55..16-)
    (/note="Cadherin-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00043-)
    (161..26-)
    (/note="Cadherin-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00043-)
    (270..38-)
    (/note="Cadherin-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:-)
  • Interpro: IPR039808  IPR002126  IPR015919  IPR020894  IPR000233   IPR027397  
  • Prosite: PS00232 PS50268
  • STRING: ENSP00000371689
• Other Databases: GeneCards:  CDH12  Malacards:  CDH12

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: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: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: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	IEA	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:0005886	plasma membrane	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq