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    CNIH4 cornichon family member 4 [ Homo sapiens (human) ]

    Gene ID: 29097, updated on 5-Mar-2024

    Summary

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    Official Symbol
    CNIH4provided by HGNC
    Official Full Name
    cornichon family member 4provided by HGNC
    Primary source
    HGNC:HGNC:25013
    See related
    Ensembl:ENSG00000143771 MIM:617483; AllianceGenome:HGNC:25013
    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
    Summary
    Enables CCR5 chemokine receptor binding activity. Involved in endoplasmic reticulum to Golgi vesicle-mediated transport. Located in endoplasmic reticulum and endoplasmic reticulum-Golgi intermediate compartment. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in placenta (RPKM 7.6), colon (RPKM 7.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    1q42.11
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (224356803..224379452)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (223545746..223568267)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (224544581..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 ATAC-STARR-seq lymphoblastoid active region 2605 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2606 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2607 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2608 Neighboring gene Sharpr-MPRA regulatory region 12366 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:224523487-224523975 Neighboring gene small nucleolar RNA U13 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:224527150-224527870 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:224528593-224529312 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2609 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:224544931-224545431 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2610 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2611 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:224616083-224616672 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:224616673-224617262 Neighboring gene WD repeat domain 26 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1853 Neighboring gene microRNA 4742 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2612 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:224661692-224661861 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:224667779-224668305 Neighboring gene cornichon family AMPA receptor auxiliary protein 3 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:224685507-224686036 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:224686037-224686568 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:224687944-224688444 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:224688445-224688945 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:224696756-224697667 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:224703315-224703519 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:224759465-224759964 Neighboring gene aldehyde reductase family 1 member B1 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Potential roles of Cornichon Family AMPA Receptor Auxiliary Protein 4 (CNIH4) in head and neck squamous cell carcinoma. Liu H, et al. Cancer Biomark, 2022. PMID 36404537
    2. Screening and identification of CNIH4 gene associated with cell proliferation in gastric cancer based on a large-scale CRISPR-Cas9 screening database DepMap. Zhang H, et al. Gene, 2023 Jan 20. PMID 36220450
    3. Using circular RNA hsa_circ_0000190 as a new biomarker in the diagnosis of gastric cancer. Chen S, et al. Clin Chim Acta, 2017 Mar. PMID 28130019
    4. CNIH4 interacts with newly synthesized GPCR and controls their export from the endoplasmic reticulum. Sauvageau E, et al. Traffic, 2014 Apr. PMID 24405750
    5. Genome-wide association study of major depressive disorder: new results, meta-analysis, and lessons learned. Wray NR, et al. Mol Psychiatry, 2012 Jan. PMID 21042317, Free PMC Article

    See all (41) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Comprehensive analysis of clinical prognosis and biological significance of CNIH4 in cervical cancer.
      Title: Comprehensive analysis of clinical prognosis and biological significance of CNIH4 in cervical cancer.
    2. Potential roles of Cornichon Family AMPA Receptor Auxiliary Protein 4 (CNIH4) in head and neck squamous cell carcinoma.
      Title: Potential roles of Cornichon Family AMPA Receptor Auxiliary Protein 4 (CNIH4) in head and neck squamous cell carcinoma.
    3. Screening and identification of CNIH4 gene associated with cell proliferation in gastric cancer based on a large-scale CRISPR-Cas9 screening database DepMap.
      Title: Screening and identification of CNIH4 gene associated with cell proliferation in gastric cancer based on a large-scale CRISPR-Cas9 screening database DepMap.
    4. hsa_circ_0000190 (gene symbol is CNIH4) may be a novel non-invasive biomarker for the diagnosis of gastric cancer
      Title: Using circular RNA hsa_circ_0000190 as a new biomarker in the diagnosis of gastric cancer.
    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

    EBI GWAS Catalog

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables CCR5 chemokine receptor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in endoplasmic reticulum to Golgi vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in endoplasmic reticulum to Golgi vesicle-mediated transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in COPII-coated ER to Golgi transport vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum-Golgi intermediate compartment IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein cornichon homolog 4
    Names
    cornichon family AMPA receptor auxiliary protein 4
    cornichon homolog 4

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001277197.2 → NP_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/TrEMBL
      A6NJ96
      Related
      ENSP00000355822.5, ENST00000366857.9
      Conserved Domains (1) summary
      pfam03311
      Location:3 → 86
      Cornichon; Cornichon protein

    2. NM_001277198.2 → NP_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:3 → 84
      Cornichon; Cornichon protein

    3. NM_001277199.2 → NP_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:1 → 67
      Cornichon; Cornichon protein

    4. NM_001277200.2 → NP_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, Q53HE6
      Related
      ENSP00000355821.3, ENST00000366856.3
      Conserved Domains (1) summary
      pfam03311
      Location:3 → 130
      Cornichon; Cornichon protein

    5. NM_014184.4 → NP_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
      A8K1Q8, B2R553, Q9H0X8, Q9P003
      UniProtKB/TrEMBL
      Q53HE6
      Related
      ENSP00000420443.1, ENST00000465271.6
      Conserved Domains (1) summary
      pfam03311
      Location:3 → 130
      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: 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

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      224356803..224379452
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047418620.1 → XP_047274576.1  protein cornichon homolog 4 isoform X1

    2. XM_047418623.1 → XP_047274579.1  protein cornichon homolog 4 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      223545746..223568267
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P003.1 GenPept UniProtKB/Swiss-Prot:Q9P003

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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