G2Cdb::Gene report

Gene: ENSG00000085733 (Ensembl human gene); 2017 (Entrez Gene); 30 (G2Cdb plasticity & disease); CTTN (GeneCards)
Literature: 164765 (OMIM)
Marker Symbol: HGNC:3338 (HGNC)
Protein Sequence: Q14247 (UniProt)

Disease	Nervous effect	Mutations Found	Literature	Mutations Type	Genetic association?
D00000220: Hearing impairment (autosomal recessive nonsyndromic)	Y	Y	(17211611)	No mutation found (N)	N
D00000021: Colon cancer	N	Y	(17192196)	Splice variant (SpVar)	Y
D00000015: Oesophageal squamous cell carcinoma	N	Y	(17178864)	Copy Number Polymorphism (CNP)	Y

Gene List	Source	Species	Name	Description	Gene count
L00000009	G2C	Homo sapiens	Human PSD	Human orthologues of mouse PSD adapted from Collins et al (2006)	1080
L00000015	G2C	Homo sapiens	Human NRC	Human orthologues of mouse NRC adapted from Collins et al (2006)	186
L00000016	G2C	Homo sapiens	Human PSP	Human orthologues of mouse PSP adapted from Collins et al (2006)	1121
L00000034	G2C	Homo sapiens	Pocklington H3	Human orthologues of cluster 3 (mouse) from Pocklington et al (2006)	30
L00000071	G2C	Homo sapiens	BAYES-COLLINS-MOUSE-PSD-FULL	Mouse cortex PSD full list (ortho)	1556