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CDH18 cadherin 18 [ Homo sapiens (human) ]

Gene ID: 1016, updated on 5-Sep-2021

Summary

Official Symbol
CDH18provided by HGNC
Official Full Name
cadherin 18provided by HGNC
Primary source
HGNC:HGNC:1757
See related
Ensembl:ENSG00000145526 MIM:603019
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
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Genomic context

See CDH18 in Genome Data Viewer
Location:
5p14.3
Exon count:
25
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (19471296..20575886, complement)
105.20201022 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 heat shock protein family D (Hsp60) member 1 pseudogene 15 Neighboring gene uncharacterized LOC105374672 Neighboring gene CDH18 antisense RNA 1 Neighboring gene nucleoporin 50 pseudogene 3 Neighboring gene Sharpr-MPRA regulatory region 13238 Neighboring gene long intergenic non-protein coding RNA 2241 Neighboring gene long intergenic non-protein coding RNA 2146

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

Associated conditions

Description Tests
A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.
GeneReviews: Not available
Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy.
GeneReviews: Not available
Genome-wide association scan of trait depression.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cadherin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in adherens junction organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cell morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cell-cell adhesion via plasma-membrane adhesion molecules IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cell-cell junction assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
Component Evidence Code Pubs
is_active_in adherens junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of catenin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
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/Swiss-Prot
    Q13634
    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
    Q13634
    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
    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
    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
    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
    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
    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
    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
    Q13634
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    19471296..20575886 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011513930.3XP_011512232.1  cadherin-18 isoform X4

    See identical proteins and their annotated locations for XP_011512232.1

    UniProtKB/TrEMBL
    D6RER2
    Related
    ENSP00000425854.1, ENST00000511273.1
    Conserved Domains (2) summary
    cd11304
    Location:387484
    Cadherin_repeat; Cadherin tandem repeat domain
    smart00112
    Location:79157
    CA; Cadherin repeats
  2. XM_011513928.3XP_011512230.1  cadherin-18 isoform X2

    Conserved Domains (3) summary
    cd11304
    Location:321418
    Cadherin_repeat; Cadherin tandem repeat domain
    smart00112
    Location:1391
    CA; Cadherin repeats
    pfam01049
    Location:578716
    Cadherin_C; Cadherin cytoplasmic region
  3. XM_011513929.3XP_011512231.1  cadherin-18 isoform X3

    Conserved Domains (2) summary
    cd11304
    Location:219316
    Cadherin_repeat; Cadherin tandem repeat domain
    pfam01049
    Location:476614
    Cadherin_C; Cadherin cytoplasmic region
  4. XM_005248228.4XP_005248285.1  cadherin-18 isoform X1

    See identical proteins and their annotated locations for XP_005248285.1

    UniProtKB/Swiss-Prot
    Q13634
    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_017008924.2XP_016864413.1  cadherin-18 isoform X1

    UniProtKB/Swiss-Prot
    Q13634
    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_017008928.2XP_016864417.1  cadherin-18 isoform X1

    UniProtKB/Swiss-Prot
    Q13634
    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_017008926.2XP_016864415.1  cadherin-18 isoform X1

    UniProtKB/Swiss-Prot
    Q13634
    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_017008927.2XP_016864416.1  cadherin-18 isoform X1

    UniProtKB/Swiss-Prot
    Q13634
    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_017008929.2XP_016864418.1  cadherin-18 isoform X1

    UniProtKB/Swiss-Prot
    Q13634
    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
  10. XM_006714435.4XP_006714498.1  cadherin-18 isoform X1

    See identical proteins and their annotated locations for XP_006714498.1

    UniProtKB/Swiss-Prot
    Q13634
    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
  11. XM_017008930.2XP_016864419.1  cadherin-18 isoform X1

    UniProtKB/Swiss-Prot
    Q13634
    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
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