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    CDH18 cadherin 18 [ Homo sapiens (human) ]

    Gene ID: 1016, updated on 11-Apr-2024

    Summary

    Official Symbol
    CDH18provided by HGNC
    Official Full Name
    cadherin 18provided by HGNC
    Primary source
    HGNC:HGNC:1757
    See related
    Ensembl:ENSG00000145526 MIM:603019; AllianceGenome:HGNC:1757
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CDH14; CDH24; CDH14L
    Summary
    This gene encodes a type II classical cadherin from the cadherin superfamily of integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. This particular cadherin is expressed specifically in the central nervous system and is putatively involved in synaptic adhesion, axon outgrowth and guidance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]
    Expression
    Biased expression in brain (RPKM 4.0), adrenal (RPKM 1.3) and 1 other tissue See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    5p14.3
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (19471296..20575713, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (19473122..20577815, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (19471405..20575822, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 1435 Neighboring gene ribosomal protein L32 pseudogene 14 Neighboring gene MPRA-validated peak5173 silencer Neighboring gene MPRA-validated peak5174 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:19209357-19209858 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:19209859-19210358 Neighboring gene heat shock protein family D (Hsp60) member 1 pseudogene 15 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:19531228-19532427 Neighboring gene uncharacterized LOC105374672 Neighboring gene MPRA-validated peak5177 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:19859069-19859650 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:19927819-19928466 Neighboring gene NANOG hESC enhancer GRCh37_chr5:20020216-20020741 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:20275974-20277173 Neighboring gene uncharacterized LOC124900948 Neighboring gene CDH18 antisense RNA 1 Neighboring gene nucleoporin 50 pseudogene 3 Neighboring gene NANOG hESC enhancer GRCh37_chr5:20601861-20602362 Neighboring gene Sharpr-MPRA regulatory region 13238 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:20679066-20680265 Neighboring gene long intergenic non-protein coding RNA 2241 Neighboring gene long intergenic non-protein coding RNA 2146 Neighboring gene UBX domain protein 2A pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.
    EBI GWAS Catalog
    Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy.
    EBI GWAS Catalog
    Genome-wide association scan of trait depression.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables beta-catenin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables cadherin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in adherens junction organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell-cell adhesion mediated by cadherin IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell-cell junction assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in homophilic cell adhesion via plasma membrane adhesion molecules IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in multicellular organism development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    is_active_in adherens junction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of catenin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    cadherin-18
    Names
    cadherin 18, type 2
    cadherin-14
    cadherin-like 24
    ey-cadherin

    NCBI Reference Sequences (RefSeq)

    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_001167667.3NP_001161139.1  cadherin-18 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001161139.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform 2, which has a shorter and distinct C-terminus, compared to isoform 1. Variant 2 and 9 encode the same protein (isoform 2). This isoform (2) may undergo proteolytic processing similar to isoform 1.
      Source sequence(s)
      AC025173, AC118463, AK295087, CR747663, DA132038, DA368944, U59325
      Consensus CDS
      CCDS54835.1
      UniProtKB/TrEMBL
      D6RIH8
      Related
      ENSP00000422138.1, ENST00000502796.5
      Conserved Domains (2) summary
      cd11304
      Location:387484
      Cadherin_repeat; Cadherin tandem repeat domain
      smart00112
      Location:79157
      CA; Cadherin repeats
    2. NM_001291956.3NP_001278885.1  cadherin-18 isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_001278885.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1, 3, 5, 6, and 7 encode the same protein (isoform 1).
      Source sequence(s)
      AC025173, AC118463, AK289547, CR747663, DA132038, DC310391, U59325
      Consensus CDS
      CCDS3889.1
      UniProtKB/Swiss-Prot
      A8K0I2, B4DHG6, Q13634, Q8N5Z2
      Related
      ENSP00000425093.1, ENST00000507958.5
      Conserved Domains (3) summary
      cd11304
      Location:387484
      Cadherin_repeat; Cadherin tandem repeat domain
      smart00112
      Location:79157
      CA; Cadherin repeats
      pfam01049
      Location:637783
      Cadherin_C; Cadherin cytoplasmic region
    3. NM_001291957.2NP_001278886.1  cadherin-18 isoform 3 precursor

      See identical proteins and their annotated locations for NP_001278886.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and has an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform 3, which has a shorter and distinct C-terminus, compared to isoform 1. Variant 4 and 8 encode the same protein (isoform 3). This isoform (3) may undergo proteolytic processing similar to isoform 1.
      Source sequence(s)
      AC025173, AC118463, AK295087, AK308745, BC031051, CA425592, CR747663, DA132038
      Consensus CDS
      CCDS75229.1
      UniProtKB/TrEMBL
      D6RER2, D6RIH8
      Related
      ENSP00000424931.1, ENST00000506372.5
      Conserved Domains (2) summary
      cd11304
      Location:387484
      Cadherin_repeat; Cadherin tandem repeat domain
      smart00112
      Location:79157
      CA; Cadherin repeats
    4. NM_001349556.2NP_001336485.1  cadherin-18 isoform 1 preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1, 3, 5, 6, and 7 encode the same protein (isoform 1).
      Source sequence(s)
      AC025173, AC118463, AK289547, CR747663, DA132038, DC310391, U59325
      Consensus CDS
      CCDS3889.1
      UniProtKB/Swiss-Prot
      A8K0I2, B4DHG6, Q13634, Q8N5Z2
      Conserved Domains (3) summary
      cd11304
      Location:387484
      Cadherin_repeat; Cadherin tandem repeat domain
      smart00112
      Location:79157
      CA; Cadherin repeats
      pfam01049
      Location:637783
      Cadherin_C; Cadherin cytoplasmic region
    5. NM_001349558.2NP_001336487.1  cadherin-18 isoform 1 preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. Variants 1, 3, 5, 6, and 7 encode the same protein (isoform 1).
      Source sequence(s)
      AC025173, AC094103, AC118463, AK289547, CR747663, DA132038, DC310391, U59325
      Consensus CDS
      CCDS3889.1
      UniProtKB/Swiss-Prot
      A8K0I2, B4DHG6, Q13634, Q8N5Z2
      Conserved Domains (3) summary
      cd11304
      Location:387484
      Cadherin_repeat; Cadherin tandem repeat domain
      smart00112
      Location:79157
      CA; Cadherin repeats
      pfam01049
      Location:637783
      Cadherin_C; Cadherin cytoplasmic region
    6. NM_001349559.2NP_001336488.1  cadherin-18 isoform 1 preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 1. Variants 1, 3, 5, 6, and 7 encode the same protein (isoform 1).
      Source sequence(s)
      AC025173, AC118463, BC031051, CR747663, DA132038, DA181710, U59325
      Consensus CDS
      CCDS3889.1
      UniProtKB/Swiss-Prot
      A8K0I2, B4DHG6, Q13634, Q8N5Z2
      Conserved Domains (3) summary
      cd11304
      Location:387484
      Cadherin_repeat; Cadherin tandem repeat domain
      smart00112
      Location:79157
      CA; Cadherin repeats
      pfam01049
      Location:637783
      Cadherin_C; Cadherin cytoplasmic region
    7. NM_001349560.2NP_001336489.1  cadherin-18 isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR and uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform 3, which has a shorter and distinct C-terminus, compared to isoform 1. Variant 4 and 8 encode the same protein (isoform 3). This isoform (3) may undergo proteolytic processing similar to isoform 1.
      Source sequence(s)
      AC025173, AC118463, AK295087, CK005847, CR747663, DA132038, DA181710, U59325
      Consensus CDS
      CCDS75229.1
      UniProtKB/TrEMBL
      D6RER2, D6RIH8
      Conserved Domains (2) summary
      cd11304
      Location:387484
      Cadherin_repeat; Cadherin tandem repeat domain
      smart00112
      Location:79157
      CA; Cadherin repeats
    8. NM_001349561.2NP_001336490.1  cadherin-18 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) differs in the 5' UTR and uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform 2, which has a shorter and distinct C-terminus, compared to isoform 1. Variant 2 and 9 encode the same protein (isoform 2). This isoform (2) may undergo proteolytic processing similar to isoform 1.
      Source sequence(s)
      AC025173, AC118463, AK295087, CR747663, DA132038, DA368944, U59325
      Consensus CDS
      CCDS54835.1
      UniProtKB/TrEMBL
      D6RIH8
      Conserved Domains (2) summary
      cd11304
      Location:387484
      Cadherin_repeat; Cadherin tandem repeat domain
      smart00112
      Location:79157
      CA; Cadherin repeats
    9. NM_001349562.2NP_001336491.1  cadherin-18 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) differs in the 5' UTR and uses a downstream start codon compared to variant 1. It encodes isoform 4 which has a shorter N-terminus compared to isoform 1. Variants 11 and 12 encode the same protein (isoform 4).
      Source sequence(s)
      AC025173, AC113397, AC118463, CR747663, DA132038, DC343148, U59325
      Conserved Domains (3) summary
      cd11304
      Location:164261
      Cadherin_repeat; Cadherin tandem repeat domain
      smart00112
      Location:243
      CA; Cadherin repeats
      pfam01049
      Location:414560
      Cadherin_C; Cadherin cytoplasmic region
    10. NM_001349563.2NP_001336492.1  cadherin-18 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) contains an alternate exon in the 5' region, which results in the use of a downstream start codon compared to variant 1. It encodes isoform 4 which has a shorter N-terminus compared to isoform 1. Variants 11 and 12 encode the same protein (isoform 4).
      Source sequence(s)
      AC025173, AC113397, AC118463, BC031051, CR747663, DA132038, DA368944, U59325
      Conserved Domains (3) summary
      cd11304
      Location:164261
      Cadherin_repeat; Cadherin tandem repeat domain
      smart00112
      Location:243
      CA; Cadherin repeats
      pfam01049
      Location:414560
      Cadherin_C; Cadherin cytoplasmic region
    11. NM_004934.5NP_004925.1  cadherin-18 isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_004925.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1). Variants 1, 3, 5, 6, and 7 encode the same protein (isoform 1).
      Source sequence(s)
      AC025173, AC118463, BC031051, CR747663, DA132038, DA368944, U59325
      Consensus CDS
      CCDS3889.1
      UniProtKB/Swiss-Prot
      A8K0I2, B4DHG6, Q13634, Q8N5Z2
      Related
      ENSP00000371710.1, ENST00000382275.6
      Conserved Domains (3) summary
      cd11304
      Location:387484
      Cadherin_repeat; Cadherin tandem repeat domain
      smart00112
      Location:79157
      CA; Cadherin repeats
      pfam01049
      Location:637783
      Cadherin_C; Cadherin cytoplasmic region

    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
      19471296..20575713 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005248228.5XP_005248285.1  cadherin-18 isoform X1

      See identical proteins and their annotated locations for XP_005248285.1

      UniProtKB/Swiss-Prot
      A8K0I2, B4DHG6, Q13634, Q8N5Z2
      Conserved Domains (3) summary
      cd11304
      Location:387484
      Cadherin_repeat; Cadherin tandem repeat domain
      smart00112
      Location:79157
      CA; Cadherin repeats
      pfam01049
      Location:637783
      Cadherin_C; Cadherin cytoplasmic region
    2. XM_017008924.3XP_016864413.1  cadherin-18 isoform X1

      UniProtKB/Swiss-Prot
      A8K0I2, B4DHG6, Q13634, Q8N5Z2
      Conserved Domains (3) summary
      cd11304
      Location:387484
      Cadherin_repeat; Cadherin tandem repeat domain
      smart00112
      Location:79157
      CA; Cadherin repeats
      pfam01049
      Location:637783
      Cadherin_C; Cadherin cytoplasmic region
    3. XM_017008928.3XP_016864417.1  cadherin-18 isoform X1

      UniProtKB/Swiss-Prot
      A8K0I2, B4DHG6, Q13634, Q8N5Z2
      Conserved Domains (3) summary
      cd11304
      Location:387484
      Cadherin_repeat; Cadherin tandem repeat domain
      smart00112
      Location:79157
      CA; Cadherin repeats
      pfam01049
      Location:637783
      Cadherin_C; Cadherin cytoplasmic region
    4. XM_017008926.3XP_016864415.1  cadherin-18 isoform X1

      UniProtKB/Swiss-Prot
      A8K0I2, B4DHG6, Q13634, Q8N5Z2
      Conserved Domains (3) summary
      cd11304
      Location:387484
      Cadherin_repeat; Cadherin tandem repeat domain
      smart00112
      Location:79157
      CA; Cadherin repeats
      pfam01049
      Location:637783
      Cadherin_C; Cadherin cytoplasmic region
    5. XM_017008927.3XP_016864416.1  cadherin-18 isoform X1

      UniProtKB/Swiss-Prot
      A8K0I2, B4DHG6, Q13634, Q8N5Z2
      Conserved Domains (3) summary
      cd11304
      Location:387484
      Cadherin_repeat; Cadherin tandem repeat domain
      smart00112
      Location:79157
      CA; Cadherin repeats
      pfam01049
      Location:637783
      Cadherin_C; Cadherin cytoplasmic region
    6. XM_017008929.3XP_016864418.1  cadherin-18 isoform X1

      UniProtKB/Swiss-Prot
      A8K0I2, B4DHG6, Q13634, Q8N5Z2
      Conserved Domains (3) summary
      cd11304
      Location:387484
      Cadherin_repeat; Cadherin tandem repeat domain
      smart00112
      Location:79157
      CA; Cadherin repeats
      pfam01049
      Location:637783
      Cadherin_C; Cadherin cytoplasmic region
    7. XM_006714435.5XP_006714498.1  cadherin-18 isoform X1

      See identical proteins and their annotated locations for XP_006714498.1

      UniProtKB/Swiss-Prot
      A8K0I2, B4DHG6, Q13634, Q8N5Z2
      Conserved Domains (3) summary
      cd11304
      Location:387484
      Cadherin_repeat; Cadherin tandem repeat domain
      smart00112
      Location:79157
      CA; Cadherin repeats
      pfam01049
      Location:637783
      Cadherin_C; Cadherin cytoplasmic region
    8. XM_017008930.3XP_016864419.1  cadherin-18 isoform X1

      UniProtKB/Swiss-Prot
      A8K0I2, B4DHG6, Q13634, Q8N5Z2
      Related
      ENSP00000274170.3, ENST00000274170.8
      Conserved Domains (3) summary
      cd11304
      Location:387484
      Cadherin_repeat; Cadherin tandem repeat domain
      smart00112
      Location:79157
      CA; Cadherin repeats
      pfam01049
      Location:637783
      Cadherin_C; Cadherin cytoplasmic region
    9. XM_011513930.4XP_011512232.1  cadherin-18 isoform X2

      See identical proteins and their annotated locations for XP_011512232.1

      UniProtKB/TrEMBL
      D6RER2, D6RIH8
      Related
      ENSP00000425854.1, ENST00000511273.1
      Conserved Domains (2) summary
      cd11304
      Location:387484
      Cadherin_repeat; Cadherin tandem repeat domain
      smart00112
      Location:79157
      CA; Cadherin repeats

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      19473122..20577815 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351387.1XP_054207362.1  cadherin-18 isoform X1

      UniProtKB/Swiss-Prot
      A8K0I2, B4DHG6, Q13634, Q8N5Z2
    2. XM_054351386.1XP_054207361.1  cadherin-18 isoform X1

      UniProtKB/Swiss-Prot
      A8K0I2, B4DHG6, Q13634, Q8N5Z2
    3. XM_054351389.1XP_054207364.1  cadherin-18 isoform X1

      UniProtKB/Swiss-Prot
      A8K0I2, B4DHG6, Q13634, Q8N5Z2
    4. XM_054351393.1XP_054207368.1  cadherin-18 isoform X1

      UniProtKB/Swiss-Prot
      A8K0I2, B4DHG6, Q13634, Q8N5Z2
    5. XM_054351392.1XP_054207367.1  cadherin-18 isoform X1

      UniProtKB/Swiss-Prot
      A8K0I2, B4DHG6, Q13634, Q8N5Z2
    6. XM_054351390.1XP_054207365.1  cadherin-18 isoform X1

      UniProtKB/Swiss-Prot
      A8K0I2, B4DHG6, Q13634, Q8N5Z2
    7. XM_054351388.1XP_054207363.1  cadherin-18 isoform X1

      UniProtKB/Swiss-Prot
      A8K0I2, B4DHG6, Q13634, Q8N5Z2
    8. XM_054351391.1XP_054207366.1  cadherin-18 isoform X1

      UniProtKB/Swiss-Prot
      A8K0I2, B4DHG6, Q13634, Q8N5Z2
    9. XM_054351394.1XP_054207369.1  cadherin-18 isoform X3

    10. XM_054351395.1XP_054207370.1  cadherin-18 isoform X4

    11. XM_054351396.1XP_054207371.1  cadherin-18 isoform X2

      UniProtKB/TrEMBL
      D6RER2