CDH12 (cadherin 12)

Gene

• Entrez ID: 1010
• Gene name: Cadherin 12
• Gene symbol: CDH12
• Synonyms (NCBI Gene): CDHB
• Chromosome: 5
• Chromosome location: 5p14.3
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023018	hsa-miR-124-3p	Microarray	18668037
MIRT608795	hsa-miR-759	HITS-CLIP	24906430
MIRT608794	hsa-miR-574-5p	HITS-CLIP	24906430
MIRT608793	hsa-miR-6867-5p	HITS-CLIP	24906430
MIRT608792	hsa-miR-8068	HITS-CLIP	24906430
MIRT608791	hsa-miR-6818-5p	HITS-CLIP	24906430
MIRT608790	hsa-miR-147a	HITS-CLIP	24906430
MIRT608789	hsa-miR-5010-3p	HITS-CLIP	24906430
MIRT608788	hsa-miR-4455	HITS-CLIP	24906430
MIRT608790	hsa-miR-147a	HITS-CLIP	27418678
MIRT608790	hsa-miR-147a	HITS-CLIP	27418678
MIRT608790	hsa-miR-147a	HITS-CLIP	27418678
MIRT608790	hsa-miR-147a	HITS-CLIP	27418678
MIRT608788	hsa-miR-4455	HITS-CLIP	27418678
MIRT608788	hsa-miR-4455	HITS-CLIP	27418678
MIRT608788	hsa-miR-4455	HITS-CLIP	27418678
MIRT608788	hsa-miR-4455	HITS-CLIP	27418678
MIRT608789	hsa-miR-5010-3p	HITS-CLIP	27418678
MIRT608789	hsa-miR-5010-3p	HITS-CLIP	27418678
MIRT608789	hsa-miR-5010-3p	HITS-CLIP	27418678
MIRT608789	hsa-miR-5010-3p	HITS-CLIP	27418678
MIRT608794	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT608794	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT608794	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT608794	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT608791	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT608791	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT608791	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT608791	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT608793	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT608793	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT608793	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT608793	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT608795	hsa-miR-759	HITS-CLIP	27418678
MIRT608795	hsa-miR-759	HITS-CLIP	27418678
MIRT608792	hsa-miR-8068	HITS-CLIP	27418678
MIRT608792	hsa-miR-8068	HITS-CLIP	27418678
MIRT608792	hsa-miR-8068	HITS-CLIP	27418678
MIRT608792	hsa-miR-8068	HITS-CLIP	27418678
MIRT879343	hsa-miR-129-5p	CLIP-seq
MIRT879344	hsa-miR-1302	CLIP-seq
MIRT879345	hsa-miR-3122	CLIP-seq
MIRT879346	hsa-miR-3913-5p	CLIP-seq
MIRT879347	hsa-miR-3978	CLIP-seq
MIRT879348	hsa-miR-4298	CLIP-seq
MIRT879349	hsa-miR-4777-5p	CLIP-seq
MIRT879350	hsa-miR-518d-5p	CLIP-seq
MIRT879351	hsa-miR-519b-5p	CLIP-seq
MIRT879352	hsa-miR-519c-5p	CLIP-seq
MIRT879353	hsa-miR-520c-5p	CLIP-seq
MIRT879354	hsa-miR-526a	CLIP-seq
MIRT1960650	hsa-miR-1276	CLIP-seq
MIRT1960651	hsa-miR-142-5p	CLIP-seq
MIRT1960652	hsa-miR-3125	CLIP-seq
MIRT1960653	hsa-miR-3183	CLIP-seq
MIRT1960654	hsa-miR-340	CLIP-seq
MIRT1960655	hsa-miR-3916	CLIP-seq
MIRT1960656	hsa-miR-4311	CLIP-seq
MIRT1960657	hsa-miR-4723-3p	CLIP-seq
MIRT1960658	hsa-miR-4753-3p	CLIP-seq
MIRT1960659	hsa-miR-583	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000902	Process	Cell morphogenesis	IBA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005912	Component	Adherens junction	IBA
GO:0007043	Process	Cell-cell junction assembly	IBA
GO:0007155	Process	Cell adhesion	IEA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0008013	Function	Beta-catenin binding	IBA
GO:0016020	Component	Membrane	IEA
GO:0016339	Process	Calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules	IBA
GO:0016342	Component	Catenin complex	IBA
GO:0016477	Process	Cell migration	IBA
GO:0034332	Process	Adherens junction organization	IBA
GO:0044331	Process	Cell-cell adhesion mediated by cadherin	IBA
GO:0045296	Function	Cadherin binding	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0098609	Process	Cell-cell adhesion	IEA

Other IDs

• MIM: 600562
• HGNC: 1751
• e!Ensembl: ENSG00000154162

Protein

• UniProt ID: P55289
• Protein name: Cadherin-12 (Brain cadherin) (BR-cadherin) (Neural type cadherin 2) (N-cadherin 2)
• Protein function: Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00028	Cadherin	59 → 151	Cadherin domain	Domain
  PF00028	Cadherin	165 → 260	Cadherin domain	Domain
  PF00028	Cadherin	274 → 376	Cadherin domain	Domain
  PF00028	Cadherin	389 → 480	Cadherin domain	Domain
  PF00028	Cadherin	493 → 590	Cadherin domain	Domain
  PF01049	Cadherin_C	638 → 785	Cadherin cytoplasmic region	Family

• Tissue specificity: TISSUE SPECIFICITY: Brain.
• Sequence:

  MLTRNCLSLLLWVLFDGGLLTPLQPQPQQTLATEPRENVIHLPGQRSHFQRVKRGWVWNQ
  FFVLEEYVGSEPQYVGKLHSDLDKGEGTVKYTLSGDGAGTVFTIDETTGDIHAIRSLDRE
  EKPFYTLRAQAVDIETRKPLEPESEFIIKVQDINDNEPKFLDGPYVATVPEMSPVGAYVL
  QVKATDADDPTYGNSARVVYSILQGQPYFSIDPKTGVIRTALPNMDREVKEQYQVLIQAK
  DMGGQLGGLAGTTIVNITLTDVNDNPPRFPKSIFHLKVPESSPIGSAIGRIRAVDPDFGQ
  NAEIEYNIVPGDGGNLFDIVTDEDTQEGVIKLKKPLDFETKKAYTFKVEASNLHLDHRFH
  SAGPFKDTATVKISVLDVDEPPVFSKPLYTMEVYEDTPVGTIIGAVTAQDLDVGSSAVRY
  FIDWKSDGDSYFTIDGNEGTIATNELLDRESTAQYNFSIIASKVSNPLLTSKVNILINVL
  DVNEFPPEISVPYETAVCENAKPGQIIQIVSAADRDLSPAGQQFSFRLSPEAAIKPNFTV
  RDFRNNTAGIETRRNGYSRRQQELYFLPVVIEDSSYPVQSSTNTMTIRVCRCDSDGTILS
  CNVEAIFLPVGLSTGALIAILLCIVILLAIVVLYVALRRQKKKDTLMTSKEDIRDNVIHY
  DDEGGGEEDTQAFDIGALRNPKVIEENKIRRDIKPDSLCLPRQRPPMEDNTDIRDFIHQR
  LQENDVDPTAPPYDSLATYAYEGSGSVAESLSSIDSLTTEADQDYDYLTDWGPRFKVLAD
  MFGEEESYNPDKVT

• Sequence length: 794

Pathways

Reactome:

Adherens junctions interactions

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BELL'S PALSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOCRINE SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL SEGMENTAL GLOMERULOSCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE MYELOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCULAR SARCOIDOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	16685438		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	19567891, 21876473	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	36315446	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	24237488	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	26762412		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24237488	Associate	★☆☆☆☆ Found in Text Mining only
Erythrokeratodermia Variabilis	Erythrokeratodermia variabilis	Pubtator	31911611	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	23860044		★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	30342662	Associate	★☆☆☆☆ Found in Text Mining only
Hyperkeratosis Epidermolytic	Epidermolytic hyperkeratosis	Pubtator	35421402	Inhibit	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	29662167		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26762412		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	GWASCAT_DG	23502783		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Myeloma	Multiple myeloma	GWASDB_DG	23502783		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	7731968	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12147741, 26762412, 28161812		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29662167		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychomotor Disorders	Psychiatric disorders	Pubtator	23860044	Associate	★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	19567891	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	34385456, 35618577	Associate	★☆☆☆☆ Found in Text Mining only