CDH17 (cadherin 17) - Rat Genome Database

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Gene: CDH17 (cadherin 17) Homo sapiens
Analyze
Symbol: CDH17
Name: cadherin 17
RGD ID: 733806
HGNC Page HGNC
Description: Exhibits integrin binding activity. Involved in integrin-mediated signaling pathway and positive regulation of integrin activation by cell surface receptor linked signal transduction. Localizes to basolateral plasma membrane; cell junction; and nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: cadherin 17, LI cadherin (liver-intestine); cadherin-16; cadherin-17; CDH16; FLJ26931; HPT-1; HPT-1 cadherin; HPT1; human intestinal peptide-associated transporter HPT-1; human peptide transporter 1; intestinal peptide-associated transporter HPT-1; LI cadherin; LI-cadherin; liver-intestine cadherin; MGC138218; MGC142024
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl894,127,162 - 94,217,303 (-)EnsemblGRCh38hg38GRCh38
GRCh38894,127,162 - 94,217,278 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37895,139,390 - 95,229,506 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36895,208,566 - 95,289,986 (-)NCBINCBI36hg18NCBI36
Build 34895,208,567 - 95,289,986NCBI
Celera891,325,519 - 91,415,635 (-)NCBI
Cytogenetic Map8q22.1NCBI
HuRef890,347,824 - 90,438,513 (-)NCBIHuRef
CHM1_1895,179,693 - 95,269,835 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References

Additional References at PubMed
PMID:603017   PMID:8153632   PMID:9615235   PMID:10191097   PMID:11193569   PMID:11337467   PMID:11413113   PMID:12477932   PMID:12824888   PMID:15178443   PMID:15279905   PMID:15302935  
PMID:15701831   PMID:16344560   PMID:16951245   PMID:17828401   PMID:18342884   PMID:18353622   PMID:18552820   PMID:19676131   PMID:19736353   PMID:19956853   PMID:20204409   PMID:20393816  
PMID:20398667   PMID:20444732   PMID:20500517   PMID:20568120   PMID:20580775   PMID:21323956   PMID:21873635   PMID:22009269   PMID:22286087   PMID:22791949   PMID:22810971   PMID:23053896  
PMID:23298905   PMID:23326130   PMID:23554857   PMID:23557862   PMID:23604127   PMID:24437456   PMID:25336636   PMID:25388236   PMID:25768256   PMID:25834338   PMID:26497854   PMID:26743780  
PMID:27035870   PMID:27580354   PMID:27909714   PMID:28029907   PMID:28453457   PMID:28631187   PMID:29203930   PMID:29783070   PMID:30095466   PMID:30227326   PMID:31004701   PMID:31932920  
PMID:32296183   PMID:33524213  


Genomics

Comparative Map Data
CDH17
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl894,127,162 - 94,217,303 (-)EnsemblGRCh38hg38GRCh38
GRCh38894,127,162 - 94,217,278 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37895,139,390 - 95,229,506 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36895,208,566 - 95,289,986 (-)NCBINCBI36hg18NCBI36
Build 34895,208,567 - 95,289,986NCBI
Celera891,325,519 - 91,415,635 (-)NCBI
Cytogenetic Map8q22.1NCBI
HuRef890,347,824 - 90,438,513 (-)NCBIHuRef
CHM1_1895,179,693 - 95,269,835 (-)NCBICHM1_1
Cdh17
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39411,758,157 - 11,817,905 (+)NCBIGRCm39mm39
GRCm39 Ensembl411,758,147 - 11,817,895 (+)Ensembl
GRCm38411,758,157 - 11,817,905 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl411,758,147 - 11,817,895 (+)EnsemblGRCm38mm10GRCm38
MGSCv37411,685,304 - 11,745,052 (+)NCBIGRCm37mm9NCBIm37
MGSCv36411,685,362 - 11,745,042 (+)NCBImm8
Celera411,569,441 - 11,628,305 (+)NCBICelera
Cytogenetic Map4A1NCBI
Cdh17
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2525,262,820 - 25,314,884 (+)NCBI
Rnor_6.0 Ensembl525,391,115 - 25,443,718 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0525,354,187 - 25,443,675 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0530,100,327 - 30,152,651 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4526,047,222 - 26,099,173 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1526,047,170 - 26,099,164 (+)NCBI
Celera524,595,130 - 24,647,265 (+)NCBICelera
Cytogenetic Map5q13NCBI
Cdh17
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541710,370,471 - 10,441,128 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541710,370,606 - 10,441,008 (-)NCBIChiLan1.0ChiLan1.0
CDH17
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1892,695,117 - 92,785,121 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl892,696,182 - 92,760,732 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0890,750,904 - 90,818,629 (-)NCBIMhudiblu_PPA_v0panPan3
CDH17
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12938,918,098 - 38,980,709 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2938,918,574 - 38,977,217 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2939,079,502 - 39,142,004 (-)NCBI
ROS_Cfam_1.02939,122,089 - 39,184,589 (-)NCBI
UMICH_Zoey_3.12939,135,742 - 39,198,280 (-)NCBI
UNSW_CanFamBas_1.02939,130,928 - 39,193,449 (-)NCBI
UU_Cfam_GSD_1.02939,572,504 - 39,635,045 (-)NCBI
Cdh17
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530340,573,286 - 40,636,936 (+)NCBI
SpeTri2.0NW_0049365447,156,213 - 7,208,392 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CDH17
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl442,515,276 - 42,597,772 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1442,508,852 - 42,597,888 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2445,926,942 - 46,015,745 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CDH17
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1889,101,788 - 89,179,353 (-)NCBI
ChlSab1.1 Ensembl889,101,744 - 89,179,251 (-)Ensembl
Cdh17
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247631,543,341 - 1,621,970 (-)NCBI

Position Markers
RH120584  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37895,218,432 - 95,218,707UniSTSGRCh37
Build 36895,287,608 - 95,287,883RGDNCBI36
Celera891,404,535 - 91,404,810RGD
Cytogenetic Map8q22.1UniSTS
HuRef890,427,408 - 90,427,683UniSTS
TNG Radiation Hybrid Map845622.0UniSTS
TNG Radiation Hybrid Map845618.0UniSTS
G59414  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37895,188,445 - 95,188,688UniSTSGRCh37
Build 36895,257,621 - 95,257,864RGDNCBI36
Celera891,374,552 - 91,374,795RGD
Cytogenetic Map8q22.1UniSTS
HuRef890,397,492 - 90,397,735UniSTS
TNG Radiation Hybrid Map845602.0UniSTS
CDH17_522  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37895,139,678 - 95,140,375UniSTSGRCh37
Build 36895,208,854 - 95,209,551RGDNCBI36
Celera891,325,803 - 91,326,500RGD
HuRef890,348,108 - 90,348,805UniSTS
STS-X83228  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37895,139,623 - 95,139,890UniSTSGRCh37
Build 36895,208,799 - 95,209,066RGDNCBI36
Celera891,325,748 - 91,326,015RGD
Cytogenetic Map8q22.1UniSTS
HuRef890,348,053 - 90,348,320UniSTS
GeneMap99-GB4 RH Map8435.88UniSTS
NCBI RH Map8968.3UniSTS
D8S1083  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37895,197,469 - 95,197,760UniSTSGRCh37
Build 36895,266,645 - 95,266,936RGDNCBI36
Celera891,383,577 - 91,383,868RGD
Cytogenetic Map8q22.1UniSTS
HuRef890,406,517 - 90,406,804UniSTS
Whitehead-YAC Contig Map8 UniSTS
D8S1071  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37895,199,214 - 95,199,376UniSTSGRCh37
Build 36895,268,390 - 95,268,552RGDNCBI36
Celera891,385,322 - 91,385,484RGD
Cytogenetic Map8q22.1UniSTS
HuRef890,408,202 - 90,408,364UniSTS
Whitehead-YAC Contig Map8 UniSTS
SGC35251  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37895,140,317 - 95,140,470UniSTSGRCh37
Build 36895,209,493 - 95,209,646RGDNCBI36
Celera891,326,442 - 91,326,595RGD
Cytogenetic Map8q22.1UniSTS
HuRef890,348,747 - 90,348,900UniSTS
GeneMap99-GB4 RH Map8433.83UniSTS
Whitehead-RH Map8559.2UniSTS
NCBI RH Map8947.6UniSTS
STS-T76997  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map1p35-p36.1UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1q21UniSTS
GeneMap99-GB4 RH Map1246.39UniSTS
G54631  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37895,188,445 - 95,188,744UniSTSGRCh37
Celera891,374,552 - 91,374,851UniSTS
Cytogenetic Map8q22.1UniSTS
HuRef890,397,492 - 90,397,791UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1063
Count of miRNA genes:636
Interacting mature miRNAs:696
Transcripts:ENST00000027335, ENST00000441892, ENST00000450165, ENST00000520952, ENST00000521491
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 9
Medium 615 19 19 160 20 1 9 10 24
Low 784 430 36 27 269 20 317 364 16 109 324 77 8 9 252
Below cutoff 1002 2079 1406 408 800 258 3446 1562 3199 263 1008 1302 155 1053 2175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001144663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AI566493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP003351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP003478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU098586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC112013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF591263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX483700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS223371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB009107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U07969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X83228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000027335   ⟹   ENSP00000027335
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl894,127,162 - 94,208,555 (-)Ensembl
RefSeq Acc Id: ENST00000441892   ⟹   ENSP00000392811
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl894,127,872 - 94,208,555 (-)Ensembl
RefSeq Acc Id: ENST00000450165   ⟹   ENSP00000401468
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl894,128,240 - 94,217,303 (-)Ensembl
RefSeq Acc Id: ENST00000520952   ⟹   ENSP00000429730
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl894,145,969 - 94,162,128 (-)Ensembl
RefSeq Acc Id: ENST00000521491   ⟹   ENSP00000428189
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl894,174,243 - 94,208,555 (-)Ensembl
RefSeq Acc Id: NM_001144663   ⟹   NP_001138135
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38894,127,162 - 94,217,278 (-)NCBI
GRCh37895,139,394 - 95,229,531 (-)ENTREZGENE
HuRef890,347,824 - 90,438,513 (-)ENTREZGENE
CHM1_1895,179,693 - 95,269,835 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004063   ⟹   NP_004054
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38894,127,162 - 94,208,555 (-)NCBI
GRCh37895,139,394 - 95,229,531 (-)ENTREZGENE
Build 36895,208,566 - 95,289,986 (-)NCBI Archive
HuRef890,347,824 - 90,438,513 (-)ENTREZGENE
CHM1_1895,179,693 - 95,261,119 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516790   ⟹   XP_011515092
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38894,127,162 - 94,208,586 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001138135   ⟸   NM_001144663
- Peptide Label: precursor
- UniProtKB: Q12864 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_004054   ⟸   NM_004063
- Peptide Label: precursor
- UniProtKB: Q12864 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011515092   ⟸   XM_011516790
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000401468   ⟸   ENST00000450165
RefSeq Acc Id: ENSP00000392811   ⟸   ENST00000441892
RefSeq Acc Id: ENSP00000429730   ⟸   ENST00000520952
RefSeq Acc Id: ENSP00000428189   ⟸   ENST00000521491
RefSeq Acc Id: ENSP00000027335   ⟸   ENST00000027335
Protein Domains
CA   Cadherin

Promoters
RGD ID:7213767
Promoter ID:EPDNEW_H12629
Type:multiple initiation site
Name:CDH17_1
Description:cadherin 17
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12630  EPDNEW_H12632  EPDNEW_H12631  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38894,203,068 - 94,203,128EPDNEW
RGD ID:7213769
Promoter ID:EPDNEW_H12630
Type:initiation region
Name:CDH17_2
Description:cadherin 17
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12629  EPDNEW_H12632  EPDNEW_H12631  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38894,208,555 - 94,208,615EPDNEW
RGD ID:7213773
Promoter ID:EPDNEW_H12631
Type:initiation region
Name:CDH17_4
Description:cadherin 17
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12629  EPDNEW_H12630  EPDNEW_H12632  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38894,217,278 - 94,217,338EPDNEW
RGD ID:6806561
Promoter ID:HG_KWN:61717
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:NM_001144663
Position:
Human AssemblyChrPosition (strand)Source
Build 36895,298,729 - 95,299,229 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1 copy number loss See cases [RCV000054262] Chr8:78672463..95366868 [GRCh38]
Chr8:79584698..96379096 [GRCh37]
Chr8:79747253..96448272 [NCBI36]
Chr8:8q21.13-22.1
pathogenic
GRCh38/hg38 8q21.3-22.1(chr8:90940996-94538343)x1 copy number loss See cases [RCV000054263] Chr8:90940996..94538343 [GRCh38]
Chr8:91953224..95550571 [GRCh37]
Chr8:92022400..95619747 [NCBI36]
Chr8:8q21.3-22.1
pathogenic
GRCh38/hg38 8q21.3-22.1(chr8:92283179-95786443)x1 copy number loss See cases [RCV000054265] Chr8:92283179..95786443 [GRCh38]
Chr8:93295407..96798671 [GRCh37]
Chr8:93364583..96867847 [NCBI36]
Chr8:8q21.3-22.1
pathogenic
GRCh38/hg38 8q21.3-22.1(chr8:92287062-95786443)x1 copy number loss See cases [RCV000054277] Chr8:92287062..95786443 [GRCh38]
Chr8:93299290..96798671 [GRCh37]
Chr8:93368466..96867847 [NCBI36]
Chr8:8q21.3-22.1
pathogenic
GRCh38/hg38 8q22.1(chr8:92755532-97792132)x1 copy number loss See cases [RCV000054278] Chr8:92755532..97792132 [GRCh38]
Chr8:93767760..98804360 [GRCh37]
Chr8:93836936..98873536 [NCBI36]
Chr8:8q22.1
pathogenic
NM_001144663.1(CDH17):c.2117C>T (p.Ser706Phe) single nucleotide variant Malignant melanoma [RCV000068445] Chr8:94145978 [GRCh38]
Chr8:95158206 [GRCh37]
Chr8:95227382 [NCBI36]
Chr8:8q22.1
not provided
NM_001144663.1(CDH17):c.584G>A (p.Gly195Glu) single nucleotide variant Malignant melanoma [RCV000068446] Chr8:94173996 [GRCh38]
Chr8:95186224 [GRCh37]
Chr8:95255400 [NCBI36]
Chr8:8q22.1
not provided
NM_001144663.1(CDH17):c.2488C>G (p.Leu830Val) single nucleotide variant Malignant melanoma [RCV000061838] Chr8:94128251 [GRCh38]
Chr8:95140479 [GRCh37]
Chr8:95209655 [NCBI36]
Chr8:8q22.1
not provided
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q22.1(chr8:93038175-95667782)x1 copy number loss See cases [RCV000136519] Chr8:93038175..95667782 [GRCh38]
Chr8:94050403..96680010 [GRCh37]
Chr8:94119579..96749186 [NCBI36]
Chr8:8q22.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_004063.3(CDH17):c.231delT (p.Leu78Cysfs) deletion not specified [RCV000478194] Chr8:94177641 [GRCh38]
Chr8:95189869 [GRCh37]
Chr8:8q22.1
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q22.1(chr8:93391781-96572606)x1 copy number loss See cases [RCV000512300] Chr8:93391781..96572606 [GRCh37]
Chr8:8q22.1
likely pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3 copy number gain not provided [RCV000683045] Chr8:86841154..116518125 [GRCh37]
Chr8:8q21.2-23.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_004063.4(CDH17):c.1367A>G (p.Asn456Ser) single nucleotide variant not provided [RCV000894450] Chr8:94160155 [GRCh38]
Chr8:95172383 [GRCh37]
Chr8:8q22.1
benign
NM_004063.4(CDH17):c.2205T>C (p.Phe735=) single nucleotide variant not provided [RCV000982467] Chr8:94130955 [GRCh38]
Chr8:95143183 [GRCh37]
Chr8:8q22.1
likely benign
NM_004063.4(CDH17):c.2364A>G (p.Ala788=) single nucleotide variant not provided [RCV000894094] Chr8:94130660 [GRCh38]
Chr8:95142888 [GRCh37]
Chr8:8q22.1
benign
NM_004063.4(CDH17):c.806C>T (p.Ala269Val) single nucleotide variant not provided [RCV000914055] Chr8:94170963 [GRCh38]
Chr8:95183191 [GRCh37]
Chr8:8q22.1
likely benign
NM_004063.4(CDH17):c.1796+2T>C single nucleotide variant not provided [RCV000999058] Chr8:94151866 [GRCh38]
Chr8:95164094 [GRCh37]
Chr8:8q22.1
uncertain significance
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1(chr8:94810526-95397957)x4 copy number gain not provided [RCV001006121] Chr8:94810526..95397957 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_004063.4(CDH17):c.375G>A (p.Thr125=) single nucleotide variant not provided [RCV000888735] Chr8:94176590 [GRCh38]
Chr8:95188818 [GRCh37]
Chr8:8q22.1
benign
NM_004063.4(CDH17):c.2121C>T (p.Leu707=) single nucleotide variant not provided [RCV000905399] Chr8:94145974 [GRCh38]
Chr8:95158202 [GRCh37]
Chr8:8q22.1
benign
NM_004063.4(CDH17):c.1496G>A (p.Arg499His) single nucleotide variant not provided [RCV000889632] Chr8:94160026 [GRCh38]
Chr8:95172254 [GRCh37]
Chr8:8q22.1
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1756 AgrOrtholog
COSMIC CDH17 COSMIC
Ensembl Genes ENSG00000079112 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000027335 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000392811 UniProtKB/TrEMBL
  ENSP00000401468 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000428189 UniProtKB/TrEMBL
  ENSP00000429730 UniProtKB/TrEMBL
Ensembl Transcript ENST00000027335 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000441892 UniProtKB/TrEMBL
  ENST00000450165 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000520952 UniProtKB/TrEMBL
  ENST00000521491 UniProtKB/TrEMBL
GTEx ENSG00000079112 GTEx
HGNC ID HGNC:1756 ENTREZGENE
Human Proteome Map CDH17 Human Proteome Map
InterPro Cadherin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1015 UniProtKB/Swiss-Prot
NCBI Gene 1015 ENTREZGENE
OMIM 603017 OMIM
PANTHER PTHR24027 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Cadherin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26290 PharmGKB
PRINTS CADHERIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CADHERIN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CADHERIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49313 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt CAD17_HUMAN UniProtKB/Swiss-Prot
  E5RJT3_HUMAN UniProtKB/TrEMBL
  E7EN24_HUMAN UniProtKB/TrEMBL
  H0YBL0_HUMAN UniProtKB/TrEMBL
  Q12864 ENTREZGENE
UniProt Secondary Q15336 UniProtKB/Swiss-Prot
  Q2M2E0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-19 CDH17  cadherin 17    cadherin 17, LI cadherin (liver-intestine)  Symbol and/or name change 5135510 APPROVED
2011-08-16 CDH17  cadherin 17, LI cadherin (liver-intestine)  CDH17  cadherin 17, LI cadherin (liver-intestine)  Symbol and/or name change 5135510 APPROVED