Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

CNTN4

contributors: mct - updated : 04-10-2022

HGNC name	contactin 4
HGNC id	2174

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DEL3PD chromosome 3p25 deletion syndrome
Location	3p26.3      Physical location : 2.142.246 - 3.099.644
Synonym name	brain-derived immunoglobulin superfamily protein 2
	axonal-associated cell adhesion molecule
	neural cell adhesion protein BIG-2
Synonym symbol(s)	AXCAM, BIG-2, CNTN4A, MGC33615

DNA

TYPE	functioning gene
STRUCTURE	959.09 kb     24 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_175607 24 - 5043 NP_783200 113.4 1026 - 2008 17915252 long isoform is restricted to surface of neurons and glia in the developing nervous system NM_001350095 25 - 5453 NP_001337024 - 1026 - 2008 17915252 NM_175613 16 - 2318 NP_783302 - 698 - 2008 17915252 NM_001206955 24 - 5204 NP_001193884 - 1026 - 2008 17915252 NM_001206956 16 - 3918 NP_001193885 - 697 - 2008 17915252

EXPRESSION

Type

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 Cardiovascular vessels aorta       Digestive intestine small intestine       Endocrine thyroid         Nervous brain       moderately Homo sapiens Reproductive female system uterus         male system testis

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

eye

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N terminal signal peptide
	six immunoglobulin-like C2 type domains
	five fibronectin type 2 domains, anf fibronectin type III repeat
	C terminal GPI anchoring domain

conjugated

GlycoP

HOMOLOGY

interspecies	ortholog to rattus cntn4
	ortholog to murine Cntn4

Homologene

FAMILY	immunoglobulin superfamily
	contactin family

CATEGORY

immunity/defense , transcription factor

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane

basic FUNCTION	may be playing a role in the formation of axon connections in the developing nervous system
	may be involved in synaptogenesis
	plays an essential role in the formation, maintenance, and plasticity of neuronal networks (Roohi 2009)
	CNTN4, CNTN5, CNTN6 play likely roles in brain development in a critical phase of establishing brain systems and their plasticity
	critical and novel roles for CNTN4/APP in promoting target-specific axon arborization, and importance of this process for functional development of a behaviorally relevant parallel visual pathway
	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
	plays a crucial role in the formation, maintenance, and plasticity of neuronal networks
	CNTN4 regulates dendritic spine density through a mechanism dependent on FnIII domains
	is likely essential for promoting dendrite growth and dendritic spine formation
	complex of CNTN4 and amyloid precursor protein (APP) is known to guide the assembly of specific circuits in the visual system
	CNTN4, CNTN5, and the APP homologs, amyloid beta precursor like protein 1 and amyloid beta precursor like protein 2, may likely also function together in the organization of olfactory tissues

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development , nervous system

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

interacting with PTPRG (Abdelhakim 2010)

cell & other

REGULATION

induced by

retinoic acid

ASSOCIATED DISORDERS

corresponding disease(s)

DEL3PD

Susceptibility

to autism spectrum disorder (ASD)

Variant & Polymorphism other	CNV resulting from Alu Y mediated NAHR, in ASD (Roohi 2009)
	copy number variations (CNVs) disrupting contactin 4 (CNTN4), in three individuals with autism spectrum disorder (ASD) (Roohi 2009)
	disruptive variants of CNTN4 interfere with abnormal synapse formation and may increase the risk of autism (

Candidate gene	autism spectrum disorder
Marker
Therapy target

ANIMAL & CELL MODELS