Aliases for CNIH4 Gene

Aliases for CNIH4 Gene

  • Cornichon Family AMPA Receptor Auxiliary Protein 4 2 3 4 5
  • Protein Cornichon Homolog 4 3 4
  • HSPC163 2 3
  • CNIH-4 3 4
  • Cornichon Homolog 4 (Drosophila) 2
  • Cornichon Homolog 4 3
  • CNIH2 3
  • CNIH4 5

External Ids for CNIH4 Gene

Previous GeneCards Identifiers for CNIH4 Gene

  • GC01P220852
  • GC01P222611
  • GC01P224545
  • GC01P195064

Summaries for CNIH4 Gene

GeneCards Summary for CNIH4 Gene

CNIH4 (Cornichon Family AMPA Receptor Auxiliary Protein 4) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include CCR5 chemokine receptor binding. An important paralog of this gene is CNIH1.

UniProtKB/Swiss-Prot Summary for CNIH4 Gene

  • Involved in G protein-coupled receptors (GPCRs) trafficking from the endoplasmic reticulum to the cell surface; it promotes the exit of GPCRs from the early secretory pathway, likely through interaction with the COPII machinery (PubMed:24405750).

Gene Wiki entry for CNIH4 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CNIH4 Gene

Genomics for CNIH4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CNIH4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CNIH4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CNIH4

Top Transcription factor binding sites by QIAGEN in the CNIH4 gene promoter:
  • Brachyury
  • Egr-4
  • GATA-1
  • HNF-3beta
  • Lhx3a
  • LHX3b
  • MRF-2
  • NCX
  • Nkx2-2
  • Sox9

Genomic Locations for CNIH4 Gene

Latest Assembly
chr1:224,356,858-224,379,459
(GRCh38/hg38)
Size:
22,602 bases
Orientation:
Plus strand

Previous Assembly
chr1:224,544,581-224,567,154
(GRCh37/hg19 by Entrez Gene)
Size:
22,574 bases
Orientation:
Plus strand

chr1:224,544,552-224,567,161
(GRCh37/hg19 by Ensembl)
Size:
22,610 bases
Orientation:
Plus strand

Genomic View for CNIH4 Gene

Genes around CNIH4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CNIH4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CNIH4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CNIH4 Gene

Proteins for CNIH4 Gene

  • Protein details for CNIH4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P003-CNIH4_HUMAN
    Recommended name:
    Protein cornichon homolog 4
    Protein Accession:
    Q9P003
    Secondary Accessions:
    • A8K1Q8
    • B2R553
    • Q9H0X8

    Protein attributes for CNIH4 Gene

    Size:
    139 amino acids
    Molecular mass:
    16093 Da
    Quaternary structure:
    • Interacts with Sec23/24 complex components SEC24B and SEC24D (PubMed:24405750). Interacts with CCR5 (PubMed:24405750). Interacts with ADRB2 in the early secretory pathway (PubMed:24405750).

    Alternative splice isoforms for CNIH4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CNIH4 Gene

Post-translational modifications for CNIH4 Gene

No Post-translational modifications

No data available for DME Specific Peptides for CNIH4 Gene

Domains & Families for CNIH4 Gene

Gene Families for CNIH4 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for CNIH4 Gene

InterPro:
Blocks:
  • Cornichon
ProtoNet:

Suggested Antigen Peptide Sequences for CNIH4 Gene

GenScript: Design optimal peptide antigens:
  • Protein cornichon homolog 4 (CNIH4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9P003

UniProtKB/Swiss-Prot:

CNIH4_HUMAN :
  • Belongs to the cornichon family.
Family:
  • Belongs to the cornichon family.
genes like me logo Genes that share domains with CNIH4: view

Function for CNIH4 Gene

Molecular function for CNIH4 Gene

UniProtKB/Swiss-Prot Function:
Involved in G protein-coupled receptors (GPCRs) trafficking from the endoplasmic reticulum to the cell surface; it promotes the exit of GPCRs from the early secretory pathway, likely through interaction with the COPII machinery (PubMed:24405750).

Phenotypes From GWAS Catalog for CNIH4 Gene

Gene Ontology (GO) - Molecular Function for CNIH4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24405750
GO:0031730 CCR5 chemokine receptor binding IPI 24405750
genes like me logo Genes that share ontologies with CNIH4: view

Phenotypes for CNIH4 Gene

GenomeRNAi human phenotypes for CNIH4:
genes like me logo Genes that share phenotypes with CNIH4: view

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CNIH4

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CNIH4 Gene

Localization for CNIH4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CNIH4 Gene

Membrane. Multi-pass membrane protein. Endoplasmic reticulum. Endoplasmic reticulum-Golgi intermediate compartment.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CNIH4 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
extracellular 1
cytosol 1

Gene Ontology (GO) - Cellular Components for CNIH4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA,IDA 24405750
GO:0005789 endoplasmic reticulum membrane IBA 21873635
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment IEA,IDA 24405750
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CNIH4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CNIH4 Gene

Pathways & Interactions for CNIH4 Gene

PathCards logo

SuperPathways for CNIH4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CNIH4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006888 ER to Golgi vesicle-mediated transport IBA,IMP 24405750
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport IEA --
genes like me logo Genes that share ontologies with CNIH4: view

No data available for Pathways by source and SIGNOR curated interactions for CNIH4 Gene

Drugs & Compounds for CNIH4 Gene

No Compound Related Data Available

Transcripts for CNIH4 Gene

mRNA/cDNA for CNIH4 Gene

5 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CNIH4

Alternative Splicing Database (ASD) splice patterns (SP) for CNIH4 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c
SP1: - -
SP2: - - -
SP3: - - - -
SP4: -
SP5:

Relevant External Links for CNIH4 Gene

GeneLoc Exon Structure for
CNIH4

Expression for CNIH4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CNIH4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CNIH4 Gene

This gene is overexpressed in Nasal epithelium (12.6), Monocytes (11.0), and Placenta (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CNIH4 Gene



Protein tissue co-expression partners for CNIH4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CNIH4

SOURCE GeneReport for Unigene cluster for CNIH4 Gene:

Hs.445890

Evidence on tissue expression from TISSUES for CNIH4 Gene

  • Nervous system(4.6)
  • Blood(4.2)
genes like me logo Genes that share expression patterns with CNIH4: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CNIH4 Gene

Orthologs for CNIH4 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CNIH4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CNIH4 30 31
  • 99.52 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CNIH4 31
  • 96 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia CNIH4 30 31
  • 93.76 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cnih4 30 17 31
  • 89.93 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CNIH4 30 31
  • 89.66 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cnih4 30
  • 89.45 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia CNIH4 31
  • 81 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CNIH4 30
  • 82.25 (n)
Lizard
(Anolis carolinensis)
Reptilia CNIH4 31
  • 96 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cnih4 30
  • 78.9 (n)
MGC76215 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.16228 30
Zebrafish
(Danio rerio)
Actinopterygii cnih4 30 31
  • 74.19 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1830 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009116 30
  • 58.15 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta cnir 30 31
  • 52.8 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C05478g 30
  • 54.33 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERV14 30 31
  • 52.63 (n)
ManyToMany
ERV15 31 33
  • 33 (a)
ManyToMany
Bread mold
(Neurospora crassa)
Ascomycetes NCU06922 30
  • 51.77 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.5341 31
  • 50 (a)
OneToOne
Species where no ortholog for CNIH4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CNIH4 Gene

ENSEMBL:
Gene Tree for CNIH4 (if available)
TreeFam:
Gene Tree for CNIH4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CNIH4: view image

Paralogs for CNIH4 Gene

Paralogs for CNIH4 Gene

(3) SIMAP similar genes for CNIH4 Gene using alignment to 3 proteins:

  • CNIH4_HUMAN
  • A6NJ96_HUMAN
  • A6NLH6_HUMAN

Pseudogenes.org Pseudogenes for CNIH4 Gene

genes like me logo Genes that share paralogs with CNIH4: view

Variants for CNIH4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CNIH4 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs12123896 - p.Ala3Gly

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CNIH4 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CNIH4 Gene

Variant ID Type Subtype PubMed ID
esv2508330 CNV deletion 19546169
nsv1127063 CNV deletion 24896259
nsv469889 CNV gain 16826518
nsv8868 CNV loss 18304495

Variation tolerance for CNIH4 Gene

Residual Variation Intolerance Score: 82.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.61; 13.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CNIH4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CNIH4

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CNIH4 Gene

Disorders for CNIH4 Gene

Additional Disease Information for CNIH4

No disorders were found for CNIH4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CNIH4 Gene

Publications for CNIH4 Gene

  1. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang QH … Chen Z (Genome research 2000) 2 3 4
  2. CNIH4 interacts with newly synthesized GPCR and controls their export from the endoplasmic reticulum. (PMID: 24405750) Sauvageau E … Bouvier M (Traffic (Copenhagen, Denmark) 2014) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 3 4

Products for CNIH4 Gene

Sources for CNIH4 Gene