CNTNAP3 contactin associated protein family member 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CNTNAP3provided by HGNC
Official Full Name: contactin associated protein family member 3provided by HGNC
Primary source: HGNC:HGNC:13834
See related: Ensembl:ENSG00000106714 MIM:610517; AllianceGenome:HGNC:13834
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CASPR3; CNTNAP3A
Summary: The protein encoded by this gene belongs to the NCP family of cell-recognition molecules. This family represents a distinct subgroup of the neurexins. NCP proteins mediate neuron-glial interactions in vertebrates and glial-glial contact in invertebrates. The protein encoded by this gene may play a role in cell recognition within the nervous system. Alternatively spliced transcript variants encoding different isoforms have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]
Annotation information: Annotation category: suggests misassembly
Expression: Broad expression in esophagus (RPKM 5.9), skin (RPKM 4.1) and 22 other tissues See more
Orthologs: all
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Genomic context

Location:: 9p12

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (39064710..39288167, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (39078097..39301583, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (39064707..39288164, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CircCNTNAP3-TP53-positive feedback loop suppresses malignant progression of esophageal squamous cell carcinoma.
Title: CircCNTNAP3-TP53-positive feedback loop suppresses malignant progression of esophageal squamous cell carcinoma.
there are 5 mutations of CNTNAP3 (G410S, P614A, R786C/H, R1219X) which were reported to be found in autism spectrum disorders patients yet, which caused 4 amino acid changed and one stop-gain de novo mutation
Title: The critical role of ASD-related gene CNTNAP3 in regulating synaptic development and social behavior in mice.
Considering that CASPR3 is involved in building the brain neural network and autophagy in circulating leukocytes, abnormal CASPR3 expression in SCZ subjects may be associated with the pathogenesis of SCZ.
Title: Elevated mRNA expression of CASPR3 in patients with schizophrenia.
CNTNAP3 could upregulate the expression of ATG16L1 and increase autophagy vacuoles
Title: CNTNAP3 associated ATG16L1 expression and Crohn's disease.
Loss of 9p13.1-p12 was the novel copy number variant shared by twins with testicular germ cell tumors, confirming the involvement of CNTNAP3.
Title: Genomic screening of testicular germ cell tumors from monozygotic twins.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S538 (e-PCR)
- UniSTS:81782

SHGC-34564 (e-PCR)
- UniSTS:6605

RH66553 (e-PCR)
- UniSTS:88048

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in cell recognition	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in membrane	NAS Non-traceable Author Statement more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: contactin-associated protein-like 3

Names: cell recognition molecule Caspr3; contactin associated protein like 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001393379.1 → NP_001380308.1 contactin-associated protein-like 3 isoform 2 precursor

Status: REVIEWED

Source sequence(s)

AL162501, AL353729

Consensus CDS

CCDS94411.1

UniProtKB/TrEMBL

A2RU34, A6NC89

Related

ENSP00000366884.2, ENST00000377656.6

Conserved Domains (5) summary

cd00057
Location:54 → 176

FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.

cd00110
Location:371 → 519

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

pfam00008
Location:551 → 582

EGF; EGF-like domain

pfam02210
Location:212 → 341

Laminin_G_2; Laminin G domain

cl00085
Location:590 → 634

FReD; Fibrinogen-related domains (FReDs); C terminal globular domain of fibrinogen. Fibrinogen is involved in blood clotting, being activated by thrombin to assemble into fibrin clots. The N-termini of 2 times 3 chains come together to form a globular ...
NM_033655.5 → NP_387504.2 contactin-associated protein-like 3 isoform 1 precursor

See identical proteins and their annotated locations for NP_387504.2

Status: REVIEWED

Source sequence(s)

AL162501, AL353729

Consensus CDS

CCDS6616.1

UniProtKB/Swiss-Prot

B1AMA0, Q9BZ76, Q9C0E9

UniProtKB/TrEMBL

A2RU34

Related

ENSP00000297668.6, ENST00000297668.11

Conserved Domains (6) summary

smart00231
Location:55 → 177

FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain

cd00057
Location:54 → 176

FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.

cd00110
Location:794 → 938

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

pfam00008
Location:551 → 582

EGF; EGF-like domain

pfam02210
Location:212 → 341

Laminin_G_2; Laminin G domain

cl00085
Location:590 → 635

FReD; Fibrinogen-related domains (FReDs); C terminal globular domain of fibrinogen. Fibrinogen is involved in blood clotting, being activated by thrombin to assemble into fibrin clots. The N-termini of 2 times 3 chains come together to form a globular ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

39064710..39288167 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

NW_025791789.1 Reference GRCh38.p14 PATCHES

Range

48900..272351

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060933.1 Alternate T2T-CHM13v2.0

Range

39078097..39301583 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_024879.3: Suppressed sequence

Description

NM_024879.3: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.