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    CTXN3 cortexin 3 [ Homo sapiens (human) ]

    Gene ID: 613212, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CTXN3provided by HGNC
    Official Full Name
    cortexin 3provided by HGNC
    Primary source
    HGNC:HGNC:31110
    See related
    Ensembl:ENSG00000205279 MIM:618746; AllianceGenome:HGNC:31110
    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
    KABE
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward kidney (RPKM 21.3) See more
    Orthologs
    mouse all
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    Genomic context

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    See CTXN3 in Genome Data Viewer
    Location:
    5q23.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (127649082..127658630)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (128168875..128178423)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (126984774..126994322)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23034 Neighboring gene uncharacterized LOC124901058 Neighboring gene proline rich coiled-coil 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16294 Neighboring gene uncharacterized LOC105379164 Neighboring gene coiled-coil domain containing 192 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:127087897-127089096 Neighboring gene cullin 1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23035 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23036 Neighboring gene uncharacterized LOC124901059 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:127270427-127271080

    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. Association between 5q23.2-located polymorphism of CTXN3 gene (Cortexin 3) and schizophrenia in European-Caucasian males; implications for the aetiology of schizophrenia. Šerý O, et al. Behav Brain Funct, 2015 Mar 17. PMID 25889058, Free PMC Article
    2. In silico-initiated cloning and molecular characterization of cortexin 3, a novel human gene specifically expressed in the kidney and brain, and well conserved in vertebrates. Wang HT, et al. Int J Mol Med, 2007 Oct. PMID 17786280
    3. Association of CTXN3-SLC12A2 polymorphisms and schizophrenia in a Thai population. Panichareon B, et al. Behav Brain Funct, 2012 May 29. PMID 22643131, Free PMC Article
    4. A genome-wide association study of schizophrenia using brain activation as a quantitative phenotype. Potkin SG, et al. Schizophr Bull, 2009 Jan. PMID 19023125, Free PMC Article
    5. A genome-wide association meta-analysis of plasma Aβ peptides concentrations in the elderly. Chouraki V, et al. Mol Psychiatry, 2014 Dec. PMID 24535457, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. altered expression of cortexin 3, either alone, or in parallel with changes in disrupted-in-schizophrenia 1, could subtly perturb GABAergic neurotransmission
      Title: Association between 5q23.2-located polymorphism of CTXN3 gene (Cortexin 3) and schizophrenia in European-Caucasian males; implications for the aetiology of schizophrenia.
    2. Two single nucleotide polymophisms of the CTXN3 and SLC12A2 genes are associated with risk of schizophrenia in a Thai population.
      Title: Association of CTXN3-SLC12A2 polymorphisms and schizophrenia in a Thai population.
    3. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: A genome-wide association study of schizophrenia using brain activation as a quantitative phenotype.
    4. Selective expression of CTXN3 in the kidney and brain, the amino acid identity to cortexin, and its high conservation among different species indicate that CTXN3 may be involved in a process specifically restricted to kidney and brain tissue function.
      Title: In silico-initiated cloning and molecular characterization of cortexin 3, a novel human gene specifically expressed in the kidney and brain, and well conserved in vertebrates.
    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
    A genome-wide association meta-analysis of plasma Aβ peptides concentrations in the elderly.
    EBI GWAS Catalog
    A genome-wide association study of schizophrenia using brain activation as a quantitative phenotype.
    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)

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    cortexin-3
    Names
    kidney and brain-expressed protein

    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)

    1. NM_001048252.3 → NP_001041717.1  cortexin-3

      See identical proteins and their annotated locations for NP_001041717.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) utilizes an alternate first exon. Transcript variants 1 and 2 encode the same protein.
      Source sequence(s)
      AB219764
      Consensus CDS
      CCDS34221.1
      UniProtKB/Swiss-Prot
      B2RV32, D3DQ82, Q4LDR2
      Related
      ENSP00000368758.3, ENST00000379445.8
      Conserved Domains (1) summary
      pfam11057
      Location:9 → 81
      Cortexin; Cortexin of kidney

    2. NM_001127385.2 → NP_001120857.1  cortexin-3

      See identical proteins and their annotated locations for NP_001120857.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) utilizes an alternate first exon. Transcript variants 1 and 2 encode the same protein.
      Source sequence(s)
      AB219832
      Consensus CDS
      CCDS34221.1
      UniProtKB/Swiss-Prot
      B2RV32, D3DQ82, Q4LDR2
      Related
      ENSP00000378732.3, ENST00000395322.3
      Conserved Domains (1) summary
      pfam11057
      Location:9 → 81
      Cortexin; Cortexin of kidney

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      127649082..127658630
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      128168875..128178423
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q4LDR2.1 GenPept UniProtKB/Swiss-Prot:Q4LDR2

    Gene LinkOut

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

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