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CTXN3 cortexin 3 [ Homo sapiens (human) ]

Gene ID: 613212, updated on 5-Mar-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 integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward kidney (RPKM 21.3) See more
Orthologs
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Genomic context

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Location:
5q23.2
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (127649082..127658630)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (128168875..128178423)
105.20220307 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)

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 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_2023_10

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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