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	HGNC	UniGene	Nucleotide	OMIM	UCSC

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FLASH GENE

Symbol

CADM1

contributors: mct/pgu - updated : 23-08-2015

HGNC name	cell adhesion molecule 1
HGNC id	5951

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   LOH     in breast cancer, neuroblastoma, non small cell lung cancer, hepatocellular, nasopharyngeal and pancreatic carcinomas tumoral       loss of function by promoter hypermethylation in non small cell lung cancer, hepatocellular carcinoma, pancreatic carcinoma, and prostate tumor tumoral     --low   in lung adenocarcinoma associated with lower patient survival, supporting its role as a tumor suppressor and in esophageal squamous cell carcinoma with a poor prognosis tumoral       loss of function by hypermethylation in premalignant cervical intraepithelial neoplasia by infection with high-risk human papillomavirus (HPV) types, in progression tumoral     --low   in meningioma, associated with decreased survival, and in the atypical meningiomas constitutional       loss of function causes male infertility tumoral     --low   in metastatic lymph node nasopharyngeal carcinoma tumoral     --over   frequent overexpression in lung adenocarcinoma tumoral     --over   resulted in reduced proliferation and increased levels of CASK and CDH1 at the leading edge of healing wounds tumoral     --low   frequently observed in various cancers, including non-small cell lung cancer (NSCLC) especially in their invasive lesions tumoral     --low   is a critical event in neuroblastoma pathogenesis resulting in tumour progression and unfavourable patient outcome tumoral     --low   by hypermethylation in squamous cell carcinomas (SCCs)of uterine cervix tumoral     --over   in adult T-cell leukemia-lymphoma (ATL) cells

Susceptibility

to Autism Spectrum Disorder (ASD)

Variant & Polymorphism other	mutationslocated in the third immunoglobulin (Ig3) domain essential for homophilic or heterophilic transactive interaction associated to Autism Spectrum Disorder (likely these mutations cause the loss of function, resulting in the impaired synaptogenesis, which is closely associated with the pathogenesis of ASD)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	Cadm1-knock out (KO) mice exhibit smaller cerebella with decreased number of synapse of Purkinje cells and some ASD-like symptoms, including impaired ultrasonic vocalization
	epidermal overexpression of Cadm1 in transgenic mice led to increased autoimmune alopecia susceptibility relative to nontransgenic littermate controls