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FLASH GENE

Symbol

CNTN6

contributors: mct/npt - updated : 27-09-2022

HGNC name	contactin 6
HGNC id	2176

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	3p26.3      Physical location : 1.134.628 - 1.445.277
Synonym name	neural adhesion molecule
	neural recognition molecule NB-3
Synonym symbol(s)	NB3, MGC133256, NB-3

DNA

TYPE	functioning gene
STRUCTURE	311.19 kb     23 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_014461 23 - 4074 NP_055276 114 1028 - 1998 9486763 NM_001349351 25 - 4422 NP_001336280 - 1028 - 1998 9486763 NM_001349354 24 - 4185 NP_001336283 - 1028 - 1998 9486763 NM_001349361 24 - 4180 NP_001336290 - 654 - 1998 9486763 NM_001349362 22 - 3971 NP_001336291 - 654 - 1998 9486763 NM_001349352 24 - 4172 NP_001336281 - 1028 - 1998 9486763 NM_001349358 21 - 3916 NP_001336287 - 843 - 1998 9486763 NM_001349350 25 - 4413 NP_001336279 - 1028 - 1998 9486763 NM_001349355 24 - 4234 NP_001336284 - 1028 - 1998 9486763 NM_001349353 24 - 4176 NP_001336282 - 1028 - 1998 9486763 NM_001289080 23 - 4065 NP_001276009 - 1028 - 1998 9486763 NM_001349356 24 - 3957 NP_001336285 - 992 - 1998 9486763 NM_001349360 21 - 3758 NP_001336289 - 654 - 1998 9486763 NM_001349357 21 - 3753 NP_001336286 - 924 - 1998 9486763 NM_001289081 22 - 3928 NP_001276010 - 956 - 1998 9486763 NM_001349359 21 - 3743 NP_001336288 - 654 - 1998 9486763

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine adrenal gland         Hearing/Equilibrium ear         Nervous brain hindbrain cerebellum

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	six Ig-like and four FNIII-like extracellular domains
	a single transmembrane segment
	a short cytoplasmic tail

HOMOLOGY

Homologene

FAMILY	immunoglobulin superfamily
	F3/contactin family

CATEGORY

adhesion

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	axonal guidance during development maintenance of synaptic connections in adult
	glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule
	triggering nuclear translocation of the Notch intracellular domain and promoting oligodendrogliogenesis from progenitor cells and differentiation of oligodendrocyte precursor cells via DTX1
	CNTN4, CNTN5, CNTN6 play likely roles in brain development in a critical phase of establishing brain systems and their plasticity
	serves likely developmental functions involving cell survival, migration and fasciculation
	CNTN6 can modulate the activity of ADGRL1 by direct binding and suggests that CNTN6 may prevent apoptosis thereby impinging on neurodevelopment
	role of protein-protein interactions in the potential mechanism of action of CNTN4, -5 and -6 , suggesting that complexes with other membrane proteins may play a role in neuronal developmental functions
	CNTN6 plays likely a role in the development of hippocampus

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

CNTN6/Notch1 pathway via DTX1 promotes neural progenitor cell differentiation into oligodendrocytes

a component

INTERACTION

DNA

RNA

small molecule

protein	interacting with PTPRG (Abdelhakim 2010)
	ADGRL1 is a binding partner for CNTN6 forming together a heteromeric cis-complex

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to abnormal auditory sensory perception in autism spectrum disorders

Variant & Polymorphism other	CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Cntn6 is expressed in the developing hippocampus, and its deficiency in mice affects spatial learning and memory