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CTXND2 cortexin domain containing 2 [ Homo sapiens (human) ]

Gene ID: 100996521, updated on 8-Mar-2024

Summary

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Official Symbol
CTXND2provided by HGNC
Official Full Name
cortexin domain containing 2provided by HGNC
Primary source
HGNC:HGNC:53440
See related
Ensembl:ENSG00000283324 AllianceGenome:HGNC:53440
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
Summary
Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

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See CTXND2 in Genome Data Viewer
Location:
1q21.3
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (150887136..150913292)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (150010832..150036963)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (150859612..150885768)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 1309, pseudogene Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150800090 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150800655 Neighboring gene aryl hydrocarbon receptor nuclear translocator Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150808889 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150818234 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:150822359-150823012 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:150823013-150823665 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150825511 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150826831 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:150846639-150847140 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:150847141-150847640 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1306 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:150849134-150849407 Neighboring gene uncharacterized LOC107985204 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150856806 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150858571 Neighboring gene RPS27A pseudogene 6 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150864113 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150864992 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150887442 Neighboring gene CYCS pseudogene 51 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150889489 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150889877 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150891209 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150903234 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150907955 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150908639 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150910911 Neighboring gene SET domain bifurcated histone lysine methyltransferase 1 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150913142 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150916657 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150922512 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150937329 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150937964 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:150945529-150946460 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150946490 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1307 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1308 Neighboring gene ceramide synthase 2

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. Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3. Macgregor S, et al. Nat Genet, 2011 Oct 9. PMID 21983785, Free PMC Article
  2. Creation of genome-wide protein expression libraries using random activation of gene expression. Harrington JJ, et al. Nat Biotechnol, 2001 May. PMID 11329013

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3.
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

General gene information

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Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
cortexin domain containing 2

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_001384189.2 → NP_001371118.1  cortexin domain containing 2

    Status: VALIDATED

    Source sequence(s)
    AL355860
    Consensus CDS
    CCDS91049.1
    UniProtKB/Swiss-Prot
    A0A1B0GV90
    Related
    ENSP00000490418.1, ENST00000636087.1
    Conserved Domains (1) summary
    pfam11057
    Location:8 → 50
    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    150887136..150913292
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    150010832..150036963
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A0A1B0GV90.1 GenPept UniProtKB/Swiss-Prot:A0A1B0GV90

Gene LinkOut

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

Molecular Biology Databases
Research Materials