CDH19 (cadherin 19)

Gene

• Entrez ID: 28513
• Gene name: Cadherin 19
• Gene symbol: CDH19
• Synonyms (NCBI Gene): CDH7, CDH7L2
• Chromosome: 18
• Chromosome location: 18q22.1
• Summary: This gene is one of three related type II cadherin genes situated in a cluster on chromosome 18. The encoded protein is a calcium dependent cell-cell adhesion glycoprotein containing five extracellular cadherin repeats. Loss of cadherins may be associated

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018515	hsa-miR-335-5p	Microarray	18185580
MIRT879767	hsa-miR-219-5p	CLIP-seq
MIRT879768	hsa-miR-3160-3p	CLIP-seq
MIRT879769	hsa-miR-4261	CLIP-seq
MIRT879770	hsa-miR-4445	CLIP-seq
MIRT879771	hsa-miR-4487	CLIP-seq
MIRT879772	hsa-miR-4496	CLIP-seq
MIRT879773	hsa-miR-4677-3p	CLIP-seq
MIRT879774	hsa-miR-4782-3p	CLIP-seq
MIRT879775	hsa-miR-508-3p	CLIP-seq
MIRT879776	hsa-miR-558	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: 603016
• HGNC: 1758
• e!Ensembl: ENSG00000071991

Protein

• UniProt ID: Q9H159
• Protein name: Cadherin-19
• 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	48 → 139	Cadherin domain	Domain
  PF00028	Cadherin	153 → 247	Cadherin domain	Domain
  PF00028	Cadherin	261 → 362	Cadherin domain	Domain
  PF00028	Cadherin	375 → 461	Cadherin domain	Domain
  PF00028	Cadherin	474 → 571	Cadherin domain	Domain
  PF01049	Cadherin_C	619 → 767	Cadherin cytoplasmic region	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in many tissues, with the exception of uterus.
• Sequence:

  MNCYLLLRFMLGIPLLWPCLGATENSQTKKVKQPVRSHLRVKRGWVWNQFFVPEEMNTTS
  HHIGQLRSDLDNGNNSFQYKLLGAGAGSTFIIDERTGDIYAIQKLDREERSLYILRAQVI
  DIATGRAVEPESEFVIKVSDINDNEPKFLDEPYEAIVPEMSPEGTLVIQVTASDADDPSS
  GNNARLLYSLLQGQPYFSVEPTTGVIRISSKMDRELQDEYWVIIQAKDMIGQPGALSGTT
  SVLIKLSDVNDNKPIFKESLYRLTVSESAPTGTSIGTIMAYDNDIGENAEMDYSIEEDDS
  QTFDIITNHETQEGIVILKKKVDFEHQNHYGIRAKVKNHHVPEQLMKYHTEASTTFIKIQ
  VEDVDEPPLFLLPYYVFEVFEETPQGSFVGVVSATDPDNRKSPIRYSITRSKVFNINDNG
  TITTSNSLDREISAWYNLSITATEKYNIEQISSIPLYVQVLNINDHAPEFSQYYETYVCE
  NAGSGQVIQTISAVDRDESIEEHHFYFNLSVEDTNNSSFTIIDNQDNTAVILTNRTGFNL
  QEEPVFYISILIADNGIPSLTSTNTLTIHVCDCGDSGSTQTCQYQELVLSMGFKTEVIIA
  ILICIMIIFGFIFLTLGLKQRRKQILFPEKSEDFRENIFQYDDEGGGEEDTEAFDIAELR
  SSTIMRERKTRKTTSAEIRSLYRQSLQVGPDSAIFRKFILEKLEEANTDPCAPPFDSLQT
  YAFEGTGSLAGSLSSLESAVSDQDESYDYLNELGPRFKRLACMFGSAVQSNN

• Sequence length: 772

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
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CDH19-related disorder	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOMERULONEPHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROSCOPIC POLYANGIITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	29956755		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	23577725		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	38375886	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	22765916		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	24554215		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	16015041		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	16015041		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	36345357	Associate	★☆☆☆☆ Found in Text Mining only
Gingival Diseases	Gingival diseases	Pubtator	31743516	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	25361488		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	25361488		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	12118382		★☆☆☆☆ Found in Text Mining only
Histiocytoma Angiomatoid Fibrous	Angiomatoid fibrous histiocytoma	Pubtator	35347249	Associate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	23577725	Associate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	24554215		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	PSYGENET_DG	24554215		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	12118382		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	15273735		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	19200257		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	19200257, 37435067	Associate	★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	28921840		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19200257, 28161066		★☆☆☆☆ Found in Text Mining only
Sarcoma Clear Cell	Sarcoma	Pubtator	35347249	Stimulate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	34880371, 39501397	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	33879671	Associate	★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	24554215		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	PSYGENET_DG	24554215		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	38307969	Associate	★☆☆☆☆ Found in Text Mining only