Format

Send to:

Choose Destination

CNIH4 cornichon family AMPA receptor auxiliary protein 4 [ Homo sapiens (human) ]

Gene ID: 29097, updated on 7-Jun-2020

Summary

Official Symbol
CNIH4provided by HGNC
Official Full Name
cornichon family AMPA receptor auxiliary protein 4provided by HGNC
Primary source
HGNC:HGNC:25013
See related
Ensembl:ENSG00000143771 MIM:617483
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
CNIH2; CNIH-4; HSPC163
Expression
Ubiquitous expression in placenta (RPKM 7.6), colon (RPKM 7.3) and 25 other tissues See more
Orthologs

Genomic context

See CNIH4 in Genome Data Viewer
Location:
1q42.11
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (224356879..224379452)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (224544513..224567154)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene nuclear VCP like Neighboring gene RNA, U6 small nuclear 1008, pseudogene Neighboring gene Sharpr-MPRA regulatory region 12366 Neighboring gene WD repeat domain 26 Neighboring gene microRNA 4742 Neighboring gene cornichon family AMPA receptor auxiliary protein 3 Neighboring gene aldehyde reductase family 1 member B1 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study of major depressive disorder: new results, meta-analysis, and lessons learned.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
CCR5 chemokine receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
ER to Golgi vesicle-mediated transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum-Golgi intermediate compartment IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
protein cornichon homolog 4
Names
cornichon homolog 4

NCBI Reference Sequences (RefSeq)

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)

  1. NM_001277197.2NP_001264126.1  protein cornichon homolog 4 isoform 2

    See identical proteins and their annotated locations for NP_001264126.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC099790, AK289973, BC039037
    Consensus CDS
    CCDS60430.1
    UniProtKB/Swiss-Prot
    Q9P003
    Related
    ENSP00000355822.5, ENST00000366857.9
    Conserved Domains (1) summary
    pfam03311
    Location:386
    Cornichon; Cornichon protein
  2. NM_001277198.2NP_001264127.1  protein cornichon homolog 4 isoform 3

    See identical proteins and their annotated locations for NP_001264127.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate 5' splice junction in a 3' exon compared to variant 1, that causes a frameshift. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC099790, BC039037, BI752106, DA185135
    Conserved Domains (1) summary
    pfam03311
    Location:384
    Cornichon; Cornichon protein
  3. NM_001277199.2NP_001264128.1  protein cornichon homolog 4 isoform 4

    See identical proteins and their annotated locations for NP_001264128.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks an alternate in-frame exon and contains an alternate exon compared to variant 1. These differences result in a distinct 5' UTR and cause translation initiation at a downstream start codon, compared to variant 1. The encoded isoform (4) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AC099790, BC039037, BQ051754, DA185135
    Conserved Domains (1) summary
    pfam03311
    Location:167
    Cornichon; Cornichon protein
  4. NM_001277200.2NP_001264129.1  protein cornichon homolog 4 isoform 5

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) uses an alternate downstream exon in place of the last exon of variant 1. The resulting isoform (5) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    BQ575976, DA185135, HY145928
    Consensus CDS
    CCDS60429.1
    UniProtKB/TrEMBL
    A6NLH6
    Related
    ENSP00000355821.3, ENST00000366856.3
    Conserved Domains (1) summary
    pfam03311
    Location:3130
    Cornichon; Cornichon protein
  5. NM_014184.4NP_054903.1  protein cornichon homolog 4 isoform 1

    See identical proteins and their annotated locations for NP_054903.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC099790, BC000573, BC039037, DA185135
    Consensus CDS
    CCDS1543.1
    UniProtKB/Swiss-Prot
    Q9P003
    Related
    ENSP00000420443.1, ENST00000465271.6
    Conserved Domains (1) summary
    pfam03311
    Location:3130
    Cornichon; Cornichon protein

RNA

  1. NR_102347.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) uses an alternate splice junction at the 3' end of the first exon and lacks an alternate exon compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC099790, BC039037, DA185135, HY018269

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    224356879..224379452
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center