CNIH3 cornichon family AMPA receptor auxiliary protein 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CNIH3provided by HGNC
Official Full Name: cornichon family AMPA receptor auxiliary protein 3provided by HGNC
Primary source: HGNC:HGNC:26802
See related: Ensembl:ENSG00000143786 AllianceGenome:HGNC:26802
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CNIH-3
Summary: Predicted to enable channel regulator activity and signaling receptor binding activity. Involved in regulation of AMPA receptor activity. Predicted to be located in dendritic shaft and postsynaptic membrane. Predicted to be part of AMPA glutamate receptor complex. Predicted to be active in dendrite and glutamatergic synapse. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in brain (RPKM 4.8), testis (RPKM 1.6) and 10 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q42.12

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (224434640..224740554)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (223623489..223929352)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (224622342..224928256)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Study's convergent findings in humans and mice support CNIH3 involvement in the pathophysiology of opioid dependence, complementing prior studies implicating the alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) glutamate system
Title: Evidence of CNIH3 involvement in opioid dependence.
Significant upregulation of CNIH-3 mRNA expression was found in schizophrenia.
Title: Upregulation of cornichon transcripts in the dorsolateral prefrontal cortex in schizophrenia.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

Submit: New GeneRIF Correction

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

SHGC-76414 (e-PCR)
- UniSTS:51983

B361YB5 (e-PCR)
- UniSTS:51744

AL010031 (e-PCR)
- UniSTS:73048

SHGC-155979 (e-PCR)
- UniSTS:182106

RH119474 (e-PCR)
- UniSTS:133512

AL009588 (e-PCR)
- UniSTS:51882

A004U18 (e-PCR)
- UniSTS:33725

G62739 (e-PCR)
- UniSTS:139716

RH120100 (e-PCR)
- UniSTS:132307

SHGC-82466 (e-PCR)
- UniSTS:104433

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in regulation of AMPA receptor activity	IDA Inferred from Direct Assay more info	PubMed
involved_in synaptic transmission, glutamatergic	IBA Inferred from Biological aspect of Ancestor more info
involved_in vesicle-mediated transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of AMPA glutamate receptor complex	ISS Inferred from Sequence or Structural Similarity more info
located_in ER to Golgi transport vesicle membrane	TAS Traceable Author Statement more info
is_active_in dendrite	IBA Inferred from Biological aspect of Ancestor more info
located_in dendritic shaft	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in endoplasmic reticulum-Golgi intermediate compartment membrane	TAS Traceable Author Statement more info
located_in postsynaptic membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in synapse	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: protein cornichon homolog 3

Names: cornichon homolog 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_001322302.2 → NP_001309231.1 protein cornichon homolog 3 isoform 2

Status: VALIDATED

Source sequence(s)

AC099790, AL596330

Conserved Domains (1) summary

pfam03311
Location:56 → 179

Cornichon; Cornichon protein
NM_001322303.2 → NP_001309232.1 protein cornichon homolog 3 isoform 3

Status: VALIDATED

Source sequence(s)

AC099790, AL596330

Conserved Domains (1) summary

pfam03311
Location:27 → 157

Cornichon; Cornichon protein
NM_001322304.2 → NP_001309233.1 protein cornichon homolog 3 isoform 4

Status: VALIDATED

Source sequence(s)

AC096537, AC099790, AL596330

Conserved Domains (1) summary

pfam03311
Location:10 → 133

Cornichon; Cornichon protein
NM_001322305.2 → NP_001309234.1 protein cornichon homolog 3 isoform 5

Status: VALIDATED

Source sequence(s)

AC096537, AL596330

Conserved Domains (1) summary

pfam03311
Location:7 → 135

Cornichon; Cornichon protein
NM_152495.2 → NP_689708.1 protein cornichon homolog 3 isoform 1

See identical proteins and their annotated locations for NP_689708.1

Status: VALIDATED

Source sequence(s)

AC096537, AK096312, AL596330

Consensus CDS

CCDS1544.1

UniProtKB/Swiss-Prot

Q8TBE1

Related

ENSP00000272133.3, ENST00000272133.4

Conserved Domains (1) summary

pfam03311
Location:7 → 151

Cornichon; Cornichon protein