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H-Invitational ID: HIT000035679 Accession number: BC012126 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Claudin-14;
 
 

Transcript original information
Accession number BC012126.1
CAGE tag ID NA
EST ID NA
Clone Number MGC:20195 IMAGE:4684949
Experimental resources NBRC: NITE Biological Resource Center  NBRC ; HGPD: Human Gene and Protein Database HGPD ; Antibody: searching human antibodies at "BIO-kaimono.com" Antibody (CLDN14) ; Catalog: searching experimental product catalogs at "BIO-kaimono.com" Catalog (CLDN14);
Sequence data provider Provider:MGC/NCI
Annotation project H-Invitational FLcDNA
Length of cDNA 1233[bp] (No. of exon:2)[A:259 T:259 G:340 C:375]
Devision HUM
Molecular type mRNA
Library origin Cell type NA
Tissue type Skin, melanoma, amelanotic
Develpmental stage NA
Mini-G
Sequence quality information
CDS feature Complete CDS
Kozak sequence NA
PolyA Site: 1215(+) Signal: 1186-1190(+)
Vector/adapter sequence NA
Frame shift NA
Remaining intron NA
Splice site acceptor (NAGNAG) NA
Transcript quality feature NA
Notes NA

Gene structure information  G-integra H-DBAS cDNA-genome alignment
H-Inv cluster ID HIX0016104
Genomic location  G-integra Help Chromosome 21
Location 21q22.13
Position 37832921- 37838725
Strand -
Possible duplicated location(s) NA
Gene structure 2 exon(s)
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:23562
KEGG GENES KEGG GENES(23562)
GeneCard GeneCardCLDN14*GeneCards is provided free to academic non-profit institutions.
Related H-InvDB links H-DBASH-DBAS G-integraG-integra cDNA-genome alignmentcDNA-genome alignment

Predicted CDS information
HIP ID HIP000034853
Predicted CDS 143..862;  239[aa];  Orientation:+2; 
Codon Adaptation Index (CAI). 0.833
Database links RefSeq NP_001139549NP_001139550NP_001139551NP_036262NP_652763
UniProt O95500
CCDS CCDS13645

Motif information
ORF

length(239),orf(143:862)
MASTAVQLLGFLLSFLGMVGTLITTILPHWRRTAHVGTNILTAVSYLKGL
WMECVWHSTGIYQCQIYRSLLALPQDLQAARALMVISCLLSGIACACAVI
GMKCTRCAKGTPAKTTFAILGGTLFILAGLLCMVAVSWTTNDVVQNFYNP
LLPSGMKFEIGQALYLGFISSSLSLIGGTLLCLSCQDEAPYRPYQAPPRA
TTTTANTAPAYQPPAAYKDNRAPSVTSATHSGYRLNDYV*
a.a.
length
InterPro Name
length(238), motif(2:239) 238 IPR006187 Claudin [Family]
length(177), motif(5:181) 177 IPR004031 PMP-22/EMP/MP20/Claudin superfamily [Family]
length(17), motif(10:26) 17 IPR003556 Claudin-14 [Family]
length(12), motif(28:39) 12 IPR003556 Claudin-14 [Family]
length(16), motif(49:64) 16 IPR017974 Claudin, conserved site [Conserved_site]
length(7), motif(64:70) 7 IPR003556 Claudin-14 [Family]
length(23), motif(82:104) 23 IPR006187 Claudin [Family]
length(13), motif(106:118) 13 IPR003556 Claudin-14 [Family]
length(22), motif(115:136) 22 IPR006187 Claudin [Family]
length(25), motif(157:181) 25 IPR006187 Claudin [Family]
length(17), motif(220:236) 17 IPR003556 Claudin-14 [Family]

Gene function information  Gene family PPI viewer Similarity Search Tool TACT
H-Inv ID HIT000035679
H-Inv cluster ID Locus viewHIX0016104
Accession number BC012126.1
CAGE tag ID NA
EST ID NA
Transcript feature  Help NO; 
Coding potential  Help Protein coding; 
Definition Claudin-14;
Similarity category  Help Category: Identical to known human protein(Category I).
Identical to known human protein (O95500)  [Identity/coverage = 100.0%/100.0%] to Homo sapiens (Human). protein.
Experimental evidence Protein evidence
PubMed ID 1083095311163249127910411297530915489334ALL
Gene family/group Gene family H-Inv gene family/group ID NA
Gene family/group name NA
Evidence motif (InterPro) ID NA
Gene symbol/name HGNC symbol CLDN14
HGNC aliases NA
HGNC name claudin 14
DDBJ CLDN14
UniProt CLDN14
EC number NA
GGDB
(GlycoGene Database)
Gene symbol NA
Familly NA
Designation NA
Expression NA
KEGG metabolic pathway NA
Protein-protein interaction (PPI) PPI viewer H-Inv protein ID HIP000034853
No. of interaction 1
Interaction partner(s) HIP000098172
BIND NA
DIP NA
MINT NA
HPRD NA
IntAct NA
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:23562
KEGG GENES KEGG GENES(23562)
GeneCard GeneCardCLDN14*GeneCards is provided free to academic non-profit institutions.
etc H-GOLDHuman-Gene diversity Of Life-style related Diseases
Curation status Auto-annotated
Notes NA
Related H-InvDB links Gene familyGene family;  Similarity Search ToolSimilarity Search Tool;  TACTTACT
fRNAdb (The functional RNA database) : overlapping fRNAdb entries with H-InvDB transcripts based on the location of the genome. 
NA

Gene ontology information
Molecular function structural molecule activity (GO:0005198); 
Cellular component integral to membrane (GO:0016021);  tight junction (GO:0005923); 

Subcellular localization information  Last modified:27-May-2015
WoLF PSORT plasma membrane; 
Target P signal peptide
SOSUI membrane protein
TMHMM membrane protein
PTS1 Not targeted
Related H-InvDB links LIFEdb LIFEdb; 
JRE-1.4.0 or later is required. Download JRE at Sun's web site.

Gene expression information  H-ANGEL DNAProbeLocator Last modified:27-May-2015
Tissue-specific expression  H-ANGEL liver; 
Probe
information DNAProbeLocator
AceGene AGhsA130211; 
Affymetrix
GeneChip
HG-Focus 210689_at; 
HG-U133 210689_at; 
HG-U133A 210689_at; 
HG-U133A_2 210689_at; 
HG-U133B NA
HG-U133_Plus_2 210689_at; 
HG-U95 31974_at;  90649_at; 
HG-U95A 31974_at; 
HG-U95B NA
HG-U95C NA
HG-U95D 90649_at; 
HG-U95E NA
HG-U95Av2 NA
HuEx-1_0 3920051;  3920057;  3930962;  3930963;  3930964;  3930967; 
HuGeneFL NA
Agilent Human 1A Oligo Microarray:PGID215 A_23_P91512; 
Whole Human Genome Oligo Microarray:PGID247 A_23_P91512; 
Related H-InvDB links H-ANGELH-ANGEL DNAProbeLocatorDNAProbeLocator

Disease/pathology information  DiseaseInfo Viewer LEGENDA Last modified:27-May-2015
Disease relation Disease name:NA
Related information in OMIM OMIM ID:  605608;  Title: CLAUDIN 14
Co-localized orphan diseases NA
Disease related mutation MutationView:  605608
JRE-1.4.0 or later is required.Download JRE at Sun's web site.
Literature-Extracted GENe-Disease Associations (LEGENDA) LEGENDA Gene name Entrez Gene ID:(23562)
Disease Entrez Gene ID:(23562)
Substance Entrez Gene ID:(23562)
Related H-InvDB links DiseaseInfo ViewerDiseaseInfo ViewerLEGENDALEGENDA

Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information  VaryGene Repeat mask viewer
 Single Nucleotide Polymorphism (SNP) and indel  VaryGene
Location Variation dbSNP ID Strand CDS/UTR Translation
86 .. 86 G/A rs188479887 - 5'UTR
106 .. 106 G/A rs149049781 - 5'UTR
153 .. 153 C/T rs113831133 - CDS Nonsynonymous[Thr4Met]
158 .. 158 G/A rs202117396 - CDS Nonsynonymous[Val6Met]
193 .. 193 C/T rs150040476 - CDS Synonymous[Gly17Gly]
205 .. 205 G/A rs117560775 - CDS Synonymous[Thr21Thr]
244 .. 244 G/A rs146395322 - CDS Synonymous[Ala34Ala]
248 .. 248 G/A rs142205038 - CDS Nonsynonymous[Val36Met]
268 .. 268 G/A rs140177046 - CDS Synonymous[Thr42Thr]
271 .. 271 C/T rs150731625 - CDS Synonymous[Ala43Ala]
272 .. 272 G/A rs141139613 - CDS Nonsynonymous[Val44Met]
327 .. 327 A/G rs148223897 - CDS Nonsynonymous[Tyr62Cys]
344 .. 344 C/T rs143062991 - CDS AA-STOP[Arg68*]
383 .. 383 C/T rs143628692 - CDS Nonsynonymous[Arg81Cys]
385 .. 385 C/T rs219779 + CDS Synonymous[Arg81Arg]
396 .. 396 T/A rs74315437 + CDS Nonsynonymous[Val85Asp]
442 .. 442 C/T rs113350364 - CDS Synonymous[Ile100Ile]
443 .. 443 G/A rs74315438 + CDS Nonsynonymous[Gly101Arg]
458 .. 458 C/T rs140257182 - CDS Nonsynonymous[Arg106Cys]
479 .. 479 G/A rs138631461 - CDS Nonsynonymous[Ala113Thr]
503 .. 503 G/A rs150201704 - CDS Nonsynonymous[Gly121Ser]
548 .. 548 G/A rs140918123 - CDS Nonsynonymous[Val136Ile]
555 .. 555 G/A rs151069240 - CDS AA-STOP[Trp138*]
556 .. 556 G/A rs142846225 - CDS AA-STOP[Trp138*]
566 .. 566 G/A rs146755542 - CDS Nonsynonymous[Asp142Asn]
568 .. 568 C/T rs140671150 - CDS Synonymous[Asp142Asp]
613 .. 613 G/A rs146860442 - CDS Synonymous[Lys157Lys]
630 .. 630 C/T rs143797113 - CDS Nonsynonymous[Ala163Val]
654 .. 654 C/A rs75617474 - CDS AA-STOP[Ser171*]
663 .. 663 C/T rs140196815 - CDS Nonsynonymous[Ser174Leu]
729 .. 729 C/T rs200651246 - CDS Nonsynonymous[Ala196Val]
730 .. 730 C/A rs144371384 - CDS Synonymous[Ala196Ala]
756 .. 756 C/T rs149671826 - CDS Nonsynonymous[Ala205Val]
760 .. 760 C/T rs184035890 - CDS Synonymous[Asn206Asn]
763 .. 763 C/T rs139437157 - CDS Synonymous[Thr207Thr]
775 .. 775 C/T rs61745291 - CDS Synonymous[Tyr211Tyr]
799 .. 799 C/T rs143566360 - CDS Synonymous[Asp219Asp]
806 .. 806 G/A rs138008896 - CDS Nonsynonymous[Ala222Thr]
829 .. 829 G/A rs219780 + CDS Synonymous[Thr229Thr]
832 .. 832 C/T rs149733854 - CDS Synonymous[His230His]
857 .. 857 G/A rs201218449 - CDS Nonsynonymous[Val239Met]
872 .. 872 G/C rs139628442 - 3'UTR
910 .. 910 G/A rs199523516 - 3'UTR
913 .. 913 G/A rs114551506 - 3'UTR
969 .. 969 G/A rs112112443 - 3'UTR
1027 .. 1027 G/A rs150553857 - 3'UTR
1196 .. 1196 G/A rs142629054 - 3'UTR
1197 .. 1197 C/A rs185515617 - 3'UTR
1209 .. 1209 T/G rs201508874 - 3'UTR
 Microsatellite (Short Tandem Repeat, STR)
No data available
 Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD)
No data available
 Repeat  Repeat mask viewer
Type Start End Strand
THE1C 1 62 +
Database links H-GOLDHuman-Gene diversity Of Life-style related Diseases(H-GOLD)
Related H-InvDB links VaryGeneVaryGene;  Repeat mask viewerRepeat Mask Viewer