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2020-11-25 02:28:04, GGRNA : RefSeq release 202 (Sep, 2020)

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Homo sapiens claudin 7 (CLDN7), transcript variant 1, mRNA. (1542 bp)
Hominidae; Homo. REFERENCE COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from CV575841.1, AC003688.1 and BC071844.1. On Nov 23, 2018 this sequence version replaced NM_001307.5. Summary: This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining...
Synonym: CEPTRL2; claudin-1; CLDN-7; CPETRL2; Hs.84359
NM_001307.6 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens claudin 7 (CLDN7), transcript variant 2, mRNA. (1462 bp)
Hominidae; Homo. REFERENCE COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC003688.1, AJ011497.1 and BC071844.1. On Aug 14, 2020 this sequence version replaced NM_001185022.1. Summary: This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining...
Synonym: CEPTRL2; claudin-1; CLDN-7; CPETRL2; Hs.84359
NM_001185022.2 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens claudin 7 (CLDN7), transcript variant 3, mRNA. (1457 bp)
Hominidae; Homo. REFERENCE COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from CV575841.1, AC003688.1 and BC071844.1. On Aug 14, 2020 this sequence version replaced NM_001185023.1. Summary: This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining...
Synonym: CEPTRL2; claudin-1; CLDN-7; CPETRL2; Hs.84359
NM_001185023.2 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens claudin 19 (CLDN19), transcript variant 3, mRNA. (3499 bp)
is encoded by transcript variant 3" /codon_start=1 /product="claudin-19 isoform c" /protein_id="NP_001172046.1" /db_xref="CCDS:CCDS53306.1" /db_xref="GeneID:149461" /db_xref="HGNC:HGNC:2040" /db_xref="MIM:610036" /translation="MANSGLQLLGYFLALGGWVGIIASTALPQWKQSSYAGDAIITAVGLYEGLWMSCASQSTGQVQCKLYDSLLALDGHIQSARALMVVAVLLGFVAMVLSVVGMKCTRVGDSNPIAKGRVAIAGGALFILAGMNLAQPCSWAGPQLAWPCWAAPSSAAHARSQRDPTAAHSPIGLDPLLLPESTSELRLPWPAPHPVAPLPSIQPASQHPGQGHWGIGWA" misc_feature 183..>590 /gene="CLDN19" /gene_synonym="HOMG5" /note="PMP-22/EMP/MP20/Claudin family; Region: PMP22_Claudin; cl21598" /db_xref="CDD:304458"...
Synonym: HOMG5
NM_001185117.2 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens claudin 14 (CLDN14), transcript variant 3, mRNA. (1453 bp)
human binary protein interactome JOURNAL Nature 580 (7803), 402-408 (2020) PUBMED 32296183 REFERENCE 2 (bases 1 to 1453) AUTHORS Kitano T, Kitajiri SI, Nishio SY and Usami SI. TITLE Detailed Clinical Features of Deafness Caused by a Claudin-14 Variant JOURNAL Int J Mol Sci 20 (18), E4579 (2019) PUBMED 31527509 REMARK GeneRIF: This report indicated that claudin-14 is essential for maintaining the inner ear environment and suggested the possible phenotypic expansion of DFNB29. This is the first report of a patient with a tight junction variant receiving a cochlear implantation. Publication...
Synonym: DFNB29
NM_001146077.2 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens claudin 2 (CLDN2), transcript variant 3, mRNA. (2921 bp)
This record has been curated by NCBI staff. The reference sequence was derived from AK312515.1, AK075405.1 and AA973123.1. On Aug 13, 2020 this sequence version replaced NM_001171095.1. Summary: This gene product belongs to the claudin protein family whose members have been identified as major integral membrane proteins localized exclusively at tight junctions. Claudins are expressed in an organ-specific manner and regulate tissue-specific physiologic properties of tight junctions. This protein is expressed in the intestine. Alternatively spliced transcript variants with different 5'...
NM_001171095.2 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens claudin 4 (CLDN4), mRNA. (1695 bp)
sapiens claudin 4 (CLDN4), mRNA. ACCESSION NM_001305 VERSION NM_001305.5 KEYWORDS RefSeq; RefSeq Select. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC093168.3. On Apr 15, 2020 this sequence version replaced NM_001305.4. Summary: The protein encoded by this intronless gene belongs to the claudin family. Claudins are...
Synonym: CPE-R; CPER; CPETR; CPETR1; hCPE-R; WBSCR8
NM_001305.5 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens claudin 15 (CLDN15), transcript variant 1, mRNA. (2129 bp)
ens claudin 15 (CLDN15), transcript variant 1, mRNA. ACCESSION NM_001185080 VERSION NM_001185080.2 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK056103.1 and DB158141.1. On Aug 13, 2020 this sequence version replaced NM_001185080.1. Summary: This gene encodes a member of the claudin family. Claudins...
NM_001185080.2 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens claudin 10 (CLDN10), transcript variant a, mRNA. (2505 bp)
Homo. REFERENCE COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK055855.1, BG697724.1, DB544708.1 and AL139376.17. On Aug 14, 2020 this sequence version replaced NM_182848.3. Summary: This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining...
Synonym: CPETRL3; HELIX; OSP-L; OSPL
NM_182848.4 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens claudin 10 (CLDN10), transcript variant a_v1, mRNA. (2448 bp)
Homo. REFERENCE COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK055855.1, BG697724.1, DB544708.1 and AL139376.17. On Aug 13, 2020 this sequence version replaced NM_001160100.1. Summary: This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in...
Synonym: CPETRL3; HELIX; OSP-L; OSPL
NM_001160100.2 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens claudin 16 (CLDN16), transcript variant 3, mRNA. (3319 bp)
specific role clnd16 in tau pathology REFERENCE 5 (bases 1 to 3319) AUTHORS Arcidiacono T, Simonini M, Lanzani C, Citterio L, Salvi E, Barlassina C, Spotti D, Cusi D, Manunta P and Vezzoli G. TITLE Claudin-14 Gene Polymorphisms and Urine Calcium Excretion JOURNAL Clin J Am Soc Nephrol 13 (10), 1542-1549 (2018) PUBMED 30232134 REMARK GeneRIF: No significant associations were found among claudin-16 and claudin-19 single-nucleotide polymorphisms and calcium excretion and between claudin-14, claudin-16, and claudin-19 single-nucleotide polymorphisms and stones. REFERENCE 6 (bases 1 to 3319)...
Synonym: HOMG3; PCLN1
NM_001378493.1 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens claudin 16 (CLDN16), transcript variant 2, mRNA. (3486 bp)
specific role clnd16 in tau pathology REFERENCE 5 (bases 1 to 3486) AUTHORS Arcidiacono T, Simonini M, Lanzani C, Citterio L, Salvi E, Barlassina C, Spotti D, Cusi D, Manunta P and Vezzoli G. TITLE Claudin-14 Gene Polymorphisms and Urine Calcium Excretion JOURNAL Clin J Am Soc Nephrol 13 (10), 1542-1549 (2018) PUBMED 30232134 REMARK GeneRIF: No significant associations were found among claudin-16 and claudin-19 single-nucleotide polymorphisms and calcium excretion and between claudin-14, claudin-16, and claudin-19 single-nucleotide polymorphisms and stones. REFERENCE 6 (bases 1 to 3486)...
Synonym: HOMG3; PCLN1
NM_001378492.1 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens claudin domain containing 1 (CLDND1), transcript variant 7, mRNA. (1700 bp)
membrane protein GENX-3745; claudin domain containing 1 protein; claudin domain-containing protein 1" /codon_start=1 /product="claudin domain-containing protein 1 isoform d" /protein_id="NP_001035290.1" /db_xref="CCDS:CCDS43116.1" /db_xref="GeneID:56650" /db_xref="HGNC:HGNC:1322" /translation="MGESFDVVTKCVSFTLTEQFMEKFVDPGNHNSGIDLLRTYLWRCQFLLPFVSLGLMCFGALIGLCACICRSLYPTIATGILHLLAGLCTLGSVSCYVAGIELLHQKLELPDNVSGEFGWSFCLACVSAPLQFMASALFIWAAHTNRKEYTLMKAYRVA" misc_feature <177..464 /gene="CLDND1" /gene_synonym="C3orf4; GENX-3745; Z38" /note="PMP-22/EMP/MP20/Claudin family; Region: PMP22_Claudin;...
Synonym: C3orf4; GENX-3745; Z38
NM_001040200.2 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens claudin domain containing 1 (CLDND1), transcript variant 4, mRNA. (2054 bp)
A and Inoue A. TITLE Claudin domain containing 1 contributing to endothelial cell adhesion decreases in presence of cerebellar hemorrhage JOURNAL J. Neurosci. Res. 95 (10), 2051-2058 (2017) PUBMED 28244141 REMARK GeneRIF: suggest that the transient decrease of CLDND1 after cerebellar hemorrhage is responsible for low-molecular-weight selective vascular hyperpermeability REFERENCE 5 (bases 1 to 2054) AUTHORS Matsuoka H, Shima A, Uda A, Ezaki H and Michihara A. TITLE The retinoic acid receptor-related orphan receptor alpha positively regulates tight junction protein claudin domain-containing 1...
Synonym: C3orf4; GENX-3745; Z38
NM_001040182.2 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens claudin domain containing 1 (CLDND1), transcript variant 2, mRNA. (2061 bp)
A and Inoue A. TITLE Claudin domain containing 1 contributing to endothelial cell adhesion decreases in presence of cerebellar hemorrhage JOURNAL J. Neurosci. Res. 95 (10), 2051-2058 (2017) PUBMED 28244141 REMARK GeneRIF: suggest that the transient decrease of CLDND1 after cerebellar hemorrhage is responsible for low-molecular-weight selective vascular hyperpermeability REFERENCE 5 (bases 1 to 2061) AUTHORS Matsuoka H, Shima A, Uda A, Ezaki H and Michihara A. TITLE The retinoic acid receptor-related orphan receptor alpha positively regulates tight junction protein claudin domain-containing 1...
Synonym: C3orf4; GENX-3745; Z38
NM_019895.3 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens claudin domain containing 1 (CLDND1), transcript variant 3, mRNA. (2005 bp)
A and Inoue A. TITLE Claudin domain containing 1 contributing to endothelial cell adhesion decreases in presence of cerebellar hemorrhage JOURNAL J. Neurosci. Res. 95 (10), 2051-2058 (2017) PUBMED 28244141 REMARK GeneRIF: suggest that the transient decrease of CLDND1 after cerebellar hemorrhage is responsible for low-molecular-weight selective vascular hyperpermeability REFERENCE 5 (bases 1 to 2005) AUTHORS Matsuoka H, Shima A, Uda A, Ezaki H and Michihara A. TITLE The retinoic acid receptor-related orphan receptor alpha positively regulates tight junction protein claudin domain-containing 1...
Synonym: C3orf4; GENX-3745; Z38
NM_001040183.2 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens claudin domain containing 1 (CLDND1), transcript variant 6, mRNA. (2317 bp)
A and Inoue A. TITLE Claudin domain containing 1 contributing to endothelial cell adhesion decreases in presence of cerebellar hemorrhage JOURNAL J. Neurosci. Res. 95 (10), 2051-2058 (2017) PUBMED 28244141 REMARK GeneRIF: suggest that the transient decrease of CLDND1 after cerebellar hemorrhage is responsible for low-molecular-weight selective vascular hyperpermeability REFERENCE 5 (bases 1 to 2317) AUTHORS Matsuoka H, Shima A, Uda A, Ezaki H and Michihara A. TITLE The retinoic acid receptor-related orphan receptor alpha positively regulates tight junction protein claudin domain-containing 1...
Synonym: C3orf4; GENX-3745; Z38
NM_001040199.2 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens claudin 17 (CLDN17), mRNA. (1241 bp)
sapiens claudin 17 (CLDN17), mRNA. ACCESSION NM_012131 VERSION NM_012131.3 KEYWORDS RefSeq; MANE Select. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AP000884.1 and BC101503.1. On May 17, 2019 this sequence version replaced NM_012131.2. Summary: This gene encodes a member of the claudin family. Claudins are integral...
NM_012131.3 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens claudin 25 (CLDN25), mRNA. (690 bp)
CH471065.1. On or before Oct 4, 2007 this sequence version replaced XM_927777.1, XM_938396.1. Summary: This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent...function of claudins JOURNAL Biochim. Biophys. Acta 1778 (3), 631-645 (2008) PUBMED 18036336 REMARK Review article REFERENCE 4 (bases 1 to 690) AUTHORS Katoh M and Katoh M. TITLE CLDN23 gene, frequently down-regulated in intestinal-type gastric cancer, is a novel member of CLAUDIN gene family...
NM_001101389.1 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens claudin 24 (CLDN24), mRNA. (663 bp)
Jun 9, 2010 this sequence version replaced XM_001714660.1, XM_001716940.1, XM_001716970.1. Summary: This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent...function of claudins JOURNAL Biochim. Biophys. Acta 1778 (3), 631-645 (2008) PUBMED 18036336 REMARK Review article REFERENCE 3 (bases 1 to 663) AUTHORS Katoh M and Katoh M. TITLE CLDN23 gene, frequently down-regulated in intestinal-type gastric cancer, is a novel member of CLAUDIN gene family...
Synonym: CLDN21
NM_001185149.1 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens transmembrane protein 235 (TMEM235), transcript variant 2, mRNA. (2427 bp)
/Claudin family; Region: PMP22_Claudin; cl21598" /db_xref="CDD:304458" exon 832..969 /gene="TMEM235" /gene_synonym="ARGM1" /inference="alignment:Splign:2.1.0" exon 970..1219 /gene="TMEM235" /gene_synonym="ARGM1" /inference="alignment:Splign:2.1.0" exon 1220..2427 /gene="TMEM235" /gene_synonym="ARGM1" /inference="alignment:Splign:2.1.0" ORIGIN // REFERENCE 1 (bases 1 to 2427) AUTHORS Maher GJ, Hilton EN, Urquhart JE, Davidson AE, Spencer HL, Black GC and Manson FD. TITLE The cataract-associated protein TMEM114, and TMEM235, are glycosylated transmembrane proteins that are distinct from claudin...
Synonym: ARGM1
NM_001204211.2 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens claudin 34 (CLDN34), mRNA. (995 bp)
LOCUS NM_001195081 995 bp mRNA linear PRI 05-JUL-2020 DEFINITION Homo sapiens claudin 34 (CLDN34), mRNA. ACCESSION NM_001195081 XM_002343807 XM_002348146 VERSION NM_001195081.2 KEYWORDS RefSeq; MANE Select. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC002365.1. On May 17, 2019 this sequence version...
NM_001195081.2 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens transmembrane protein 235 (TMEM235), transcript variant 1, mRNA. (2508 bp)
inference="COORDINATES: ab initio prediction:SignalP:4.0" misc_feature 723..1232 /gene="TMEM235" /gene_synonym="ARGM1" /note="PMP-22/EMP/MP20/Claudin tight junction; Region: Claudin_2; pfam13903" /db_xref="CDD:290614" misc_feature 762..764 /gene="TMEM235" /gene_synonym="ARGM1" /note="N-linked...GC and Manson FD. TITLE The cataract-associated protein TMEM114, and TMEM235, are glycosylated transmembrane proteins that are distinct from claudin family members JOURNAL FEBS Lett. 585 (14), 2187-2192 (2011) PUBMED 21689651 REMARK GeneRIF: Data demonstrate that TMEM114, and the closely related...
Synonym: ARGM1
NM_001204210.2 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens claudin 20 (CLDN20), mRNA. (1209 bp)
sapiens claudin 20 (CLDN20), mRNA. ACCESSION NM_001001346 VERSION NM_001001346.3 KEYWORDS RefSeq; MANE Select. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BC020838.1 and AL139101.13. On Jun 5, 2010 this sequence version replaced NM_001001346.2. Summary: This gene encodes a member of the claudin family. Claudins are...
NM_001001346.3 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens claudin 15 (CLDN15), transcript variant 2, mRNA. (1224 bp)
s claudin 15 (CLDN15), transcript variant 2, mRNA. ACCESSION NM_014343 VERSION NM_014343.3 KEYWORDS RefSeq; MANE Select. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AJ245738.1 and AK056103.1. On Jun 2, 2019 this sequence version replaced NM_014343.2. Summary: This gene encodes a member of the claudin family. Claudins...
NM_014343.3 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens claudin 2 (CLDN2), transcript variant 1, mRNA. (2961 bp)
was derived from DA743944.1, AK075405.1 and AA973123.1. This sequence is a reference standard in the RefSeqGene project. On Jun 2, 2019 this sequence version replaced NM_020384.3. Summary: This gene product belongs to the claudin protein family whose members have been identified as major integral membrane proteins localized exclusively at tight junctions. Claudins are expressed in an organ-specific manner and regulate tissue-specific physiologic properties of tight junctions. This protein is expressed in the intestine. Alternatively spliced transcript variants with different 5' untranslated...
NM_020384.4 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens claudin 2 (CLDN2), transcript variant 2, mRNA. (3163 bp)
Hominidae; Homo. REFERENCE COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AF177340.1, AK075405.1 and AA973123.1. Summary: This gene product belongs to the claudin protein family whose members have been identified as major integral membrane proteins localized exclusively at tight junctions. Claudins are expressed in an organ-specific manner and regulate tissue-specific physiologic properties of tight junctions. This protein is expressed in the intestine. Alternatively spliced transcript variants with different 5' untranslated region...
NM_001171092.1 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens claudin 14 (CLDN14), transcript variant epsilon, mRNA. (1257 bp)
human binary protein interactome JOURNAL Nature 580 (7803), 402-408 (2020) PUBMED 32296183 REFERENCE 2 (bases 1 to 1257) AUTHORS Kitano T, Kitajiri SI, Nishio SY and Usami SI. TITLE Detailed Clinical Features of Deafness Caused by a Claudin-14 Variant JOURNAL Int J Mol Sci 20 (18), E4579 (2019) PUBMED 31527509 REMARK GeneRIF: This report indicated that claudin-14 is essential for maintaining the inner ear environment and suggested the possible phenotypic expansion of DFNB29. This is the first report of a patient with a tight junction variant receiving a cochlear implantation. Publication...
Synonym: DFNB29
NM_012130.4 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens claudin 6 (CLDN6), mRNA. (1366 bp)
codon_start=1 /product="claudin-6 precursor" /protein_id="NP_067018.2" /db_xref="CCDS:CCDS10488.1" /db_xref="GeneID:9074" /db_xref="HGNC:HGNC:2048" /db_xref="MIM:615798" /translation="MASAGMQILGVVLTLLGWVNGLVSCALPMWKVTAFIGNSIVVAQVVWEGLWMSCVVQSTGQMQCKVYDSLLALPQDLQAARALCVIALLVALFGLLVYLAGAKCTTCVEEKDSKARLVLTSGIVFVISGVLTLIPVCWTAHAIIRDFYNPLVAEAQKRELGASLYLGWAASGLLLLGGGLLCCTCPSGGSQGPSHYMARYSTSAPAISRGPSEYPTKNYV" sig_peptide 57..119 /gene="CLDN6" /inference="COORDINATES: ab initio prediction:SignalP:4.0" misc_feature 69..566 /gene="CLDN6" /note="PMP-22/EMP/MP20/Claudin family; Region: PMP22_Claudin;...
NM_021195.5 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens claudin 9 (CLDN9), mRNA. (1583 bp)
claudin 9 (CLDN9), mRNA. ACCESSION NM_020982 XM_001715692 VERSION NM_020982.4 KEYWORDS RefSeq; MANE Select. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK091002.1, BC051870.1 and AI791760.1. On Nov 23, 2018 this sequence version replaced NM_020982.3. Summary: This gene encodes a member of the claudin family. Claudins...
NM_020982.4 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens claudin 14 (CLDN14), transcript variant gamma, mRNA. (1514 bp)
human binary protein interactome JOURNAL Nature 580 (7803), 402-408 (2020) PUBMED 32296183 REFERENCE 2 (bases 1 to 1514) AUTHORS Kitano T, Kitajiri SI, Nishio SY and Usami SI. TITLE Detailed Clinical Features of Deafness Caused by a Claudin-14 Variant JOURNAL Int J Mol Sci 20 (18), E4579 (2019) PUBMED 31527509 REMARK GeneRIF: This report indicated that claudin-14 is essential for maintaining the inner ear environment and suggested the possible phenotypic expansion of DFNB29. This is the first report of a patient with a tight junction variant receiving a cochlear implantation. Publication...
Synonym: DFNB29
NM_001146078.3 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens transmembrane protein 178A (TMEM178A), transcript variant 2, mRNA. (1364 bp)
id="NP_001161431.1" /db_xref="GeneID:130733" /db_xref="HGNC:HGNC:28517" /translation="MAVAVLLCGCIVATVSFFWEESLTQHVAGLLFLMTGIFCTISLCTYAASISYDLNRLPKLIYSLPADVEHGYSWSIFCAWCSLGFIVAAGGLCIAYPFISRTKIAQLKSGRDSTV" misc_feature <308..580 /gene="TMEM178A" /gene_synonym="TMEM178" /note="PMP-22/EMP/MP20/Claudin family; Region: PMP22_Claudin; cl21598" /db_xref="CDD:328820" exon 411..1364 /gene="TMEM178A" /gene_synonym="TMEM178" /inference="alignment:Splign:2.1.0" ORIGIN // REFERENCE 1 (bases 1 to 1364) AUTHORS Decker CE, Yang Z, Rimer R, Park-Min KH, Macaubas C, Mellins ED, Novack DV and Faccio R. TITLE...
Synonym: TMEM178
NM_001167959.2 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens claudin 12 (CLDN12), transcript variant 3, mRNA. (3490 bp)
Homo sapiens claudin 12 (CLDN12), transcript variant 3, mRNA. ACCESSION NM_012129 VERSION NM_012129.5 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC006153.2. On May 31, 2019 this sequence version replaced NM_012129.4. Summary: This gene encodes a member of the claudin family. Claudins are integral...
NM_012129.5 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens claudin 12 (CLDN12), transcript variant 2, mRNA. (3494 bp)
sapiens claudin 12 (CLDN12), transcript variant 2, mRNA. ACCESSION NM_001185073 VERSION NM_001185073.3 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC006153.2. On May 31, 2019 this sequence version replaced NM_001185073.2. Summary: This gene encodes a member of the claudin family. Claudins are integral...
NM_001185073.3 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens claudin 12 (CLDN12), transcript variant 1, mRNA. (3533 bp)
iens claudin 12 (CLDN12), transcript variant 1, mRNA. ACCESSION NM_001185072 VERSION NM_001185072.3 KEYWORDS RefSeq; MANE Select. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC006153.2. On Nov 24, 2018 this sequence version replaced NM_001185072.2. Summary: This gene encodes a member of the claudin family. Claudins...
NM_001185072.3 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens claudin 19 (CLDN19), transcript variant 1, mRNA. (2841 bp)
is encoded by transcript variant 1" /codon_start=1 /product="claudin-19 isoform a" /protein_id="NP_683763.2" /db_xref="CCDS:CCDS471.1" /db_xref="GeneID:149461" /db_xref="HGNC:HGNC:2040" /db_xref="MIM:610036" /translation="MANSGLQLLGYFLALGGWVGIIASTALPQWKQSSYAGDAIITAVGLYEGLWMSCASQSTGQVQCKLYDSLLALDGHIQSARALMVVAVLLGFVAMVLSVVGMKCTRVGDSNPIAKGRVAIAGGALFILAGLCTLTAVSWYATLVTQEFFNPSTPVNARYEFGPALFVGWASAGLAVLGGSFLCCTCPEPERPNSSPQPYRPGPSAAAREPVVKLPASAKGPLGV" misc_feature 183..719 /gene="CLDN19" /gene_synonym="HOMG5" /note="PMP-22/EMP/MP20/Claudin family; Region: PMP22_Claudin; cl21598" /db_xref="CDD:328820"...
Synonym: HOMG5
NM_148960.3 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens claudin 14 (CLDN14), transcript variant 5, mRNA. (1784 bp)
human binary protein interactome JOURNAL Nature 580 (7803), 402-408 (2020) PUBMED 32296183 REFERENCE 2 (bases 1 to 1784) AUTHORS Kitano T, Kitajiri SI, Nishio SY and Usami SI. TITLE Detailed Clinical Features of Deafness Caused by a Claudin-14 Variant JOURNAL Int J Mol Sci 20 (18), E4579 (2019) PUBMED 31527509 REMARK GeneRIF: This report indicated that claudin-14 is essential for maintaining the inner ear environment and suggested the possible phenotypic expansion of DFNB29. This is the first report of a patient with a tight junction variant receiving a cochlear implantation. Publication...
Synonym: DFNB29
NM_001146079.2 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens claudin domain containing 2 (CLDND2), mRNA. (974 bp)
gene="CLDND2" /codon_start=1 /product="claudin domain-containing protein 2" /protein_id="NP_689566.1" /db_xref="CCDS:CCDS12829.1" /db_xref="GeneID:125875" /db_xref="HGNC:HGNC:28511" /translation="MGVKRSLQSGGILLSLVANVLMVLSTATNYWTRQQEGHSGLWQECNHGICSSIPCQTTLAVTVACMVLAVGVGVVGMVMGLRIRCDEGESLRGQTTSAFLFLGGLLLLTALIGYTVKNAWKNNVFFSWSYFSGWLALPFSILAGFCFLLADMIMQSTDAISGFPVCL" misc_feature 445..507 /gene="CLDND2" /note="propagated from UniProtKB/Swiss-Prot (Q8NHS1.1); transmembrane region" misc_feature 454..858 /gene="CLDND2" /note="PMP-22/EMP/MP20/Claudin family; Region: PMP22_Claudin; cl21598" /db_xref="...
NM_152353.3 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens claudin 3 (CLDN3), mRNA. (1274 bp)
prostate.1 protein homolog" /codon_start=1 /product="claudin-3" /protein_id="NP_001297.1" /db_xref="CCDS:CCDS5559.1" /db_xref="GeneID:1365" /db_xref="HGNC:HGNC:2045" /db_xref="MIM:602910" /translation="MSMGLEITGTALAVLGWLGTIVCCALPMWRVSAFIGSNIITSQNIWEGLWMNCVVQSTGQMQCKVYDSLLALPQDLQAARALIVVAILLAAFGLLVALVGAQCTNCVQDDTAKAKITIVAGVLFLLAALLTLVPVSWSANTIIRDFYNPVVPEAQKREMGAGLYVGWAAAALQLLGGALLCCSCPPREKKYTATKVVYSAPRSTGPGASLGTGYDRKDYV" misc_feature 228..722 /gene="CLDN3" /gene_synonym="C7orf1; CPE-R2; CPETR2; HRVP1; RVP1" /note="PMP-22/EMP/MP20/Claudin family; Region: PMP22_Claudin; cl21598" /db_xref="CDD...
Synonym: C7orf1; CPE-R2; CPETR2; HRVP1; RVP1
NM_001306.4 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens claudin 14 (CLDN14), transcript variant 1, mRNA. (1974 bp)
human binary protein interactome JOURNAL Nature 580 (7803), 402-408 (2020) PUBMED 32296183 REFERENCE 2 (bases 1 to 1974) AUTHORS Kitano T, Kitajiri SI, Nishio SY and Usami SI. TITLE Detailed Clinical Features of Deafness Caused by a Claudin-14 Variant JOURNAL Int J Mol Sci 20 (18), E4579 (2019) PUBMED 31527509 REMARK GeneRIF: This report indicated that claudin-14 is essential for maintaining the inner ear environment and suggested the possible phenotypic expansion of DFNB29. This is the first report of a patient with a tight junction variant receiving a cochlear implantation. Publication...
Synonym: DFNB29
NM_144492.3 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
PREDICTED: Homo sapiens claudin 10 (CLDN10), transcript variant X4, mRNA. (922 bp)
CDS 258..698 /gene="CLDN10" /gene_synonym="CPETRL3; HELIX; OSP-L; OSPL" /codon_start=1 /product="claudin-10 isoform X4" /protein_id="XP_024305200.1" /db_xref="GeneID:9071" /db_xref="HGNC:HGNC:2033" /db_xref="MIM:617579" /translation="MIAAVSLGFFGSIFALFGMKCTKVGGSDKAKAKIACLAGIVFILSGLCSMTGCSLYANKITTEFFDPLFVEQKYELGAALFIGWAGASLCIIGGVIFCFSISDNNKTPRYTYNGATSVMSSRTKYHGGEDFKTTNPSKQFDKNAYV" misc_feature <258..548 /gene="CLDN10" /gene_synonym="CPETRL3; HELIX; OSP-L; OSPL" /note="PMP-22/EMP/MP20/Claudin family; Region: PMP22_Claudin; cl21598" /db_xref="CDD:328820" variation 258 /gene="CLDN10" /gene_synonym...
Synonym: CPETRL3; HELIX; OSP-L; OSPL
XM_024449432.1 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens claudin 5 (CLDN5), transcript variant 4, mRNA. (1384 bp)
Hominidae; Homo. REFERENCE COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC000082.4, AK124019.1 and BC032363.1. On Jun 2, 2019 this sequence version replaced NM_001363066.1. Summary: This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets. Mutations in this gene have been found in...
Synonym: AWAL; BEC1; CPETRL1; TMDVCF; TMVCF
NM_001363066.2 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens calcium voltage-gated channel auxiliary subunit gamma 6 (CACNG6), transcript variant 3, mRNA. (2288 bp)
misc_feature 1368..1430 /gene="CACNG6" /note="propagated from UniProtKB/Swiss-Prot (Q9BXT2.1); transmembrane region" misc_feature 1401..>1571 /gene="CACNG6" /note="PMP-22/EMP/MP20/Claudin family; Region: PMP22_Claudin; cl21598" /db_xref="CDD:304458" exon 1573..2288 /gene="CACNG6" /inference="alignment:Splign:2.1.0" ORIGIN // REFERENCE 1 (bases 1 to 2288) AUTHORS Guan F, Zhang T, Liu X, Han W, Lin H, Li L, Chen G and Li T. TITLE Evaluation of voltage-dependent calcium channel gamma gene families identified several novel potential susceptible genes to schizophrenia JOURNAL Sci Rep...
NM_031897.3 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens claudin 8 (CLDN8), mRNA. (2092 bp)
been curated by NCBI staff. The reference sequence was derived from DA629490.1, AY358707.1, AL049977.1 and AW235670.1. This sequence is a reference standard in the RefSeqGene project. On May 17, 2019 this sequence version replaced NM_199328.2. Summary: This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in...
Synonym: HEL-S-79
NM_199328.3 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens calcium voltage-gated channel auxiliary subunit gamma 6 (CACNG6), transcript variant 2, mRNA. (2363 bp)
translation="MMWSNFFLQEENRRRGAAGRRRAHGQGRSGLTPEREGKVKLALLLAAVGATLAVLSVGTEFWVELNTYKANGSAVCEAAHLGLWKACTKRLWQADVPVDRDTCGPAELPGEANCTYFKFFTTGENARIFQRTTKKGLLLLVSLEVFRHSVRALLQRVSPEPPPAPRLTYEYSWSLGCGVGAGLILLLGAGCFLLLTLPSWPWGSLCPKRGHRAT" misc_feature 1401..>1652 /gene="CACNG6" /note="PMP-22/EMP/MP20/Claudin family; Region: PMP22_Claudin; cl21598" /db_xref="CDD:304458" exon 1573..1647 /gene="CACNG6" /inference="alignment:Splign:2.1.0" exon 1648..2363 /gene="CACNG6" /inference="alignment:Splign:2.1.0" ORIGIN // REFERENCE 1 (bases 1 to 2363) AUTHORS Guan F, Zhang T, Liu X, Han W, Lin H, Li L, Chen G and...
NM_145815.2 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens RNA binding fox-1 homolog 3 (RBFOX3), transcript variant 47, mRNA. (2948 bp)
to inhibit the growth and invasion of HCC cells through PI3K/AKT and epithelial-mesenchymal transition (EMT) signaling, and promote apoptosis by activating the cytochrome-c/caspase signaling pathway. REFERENCE 2 (bases 1 to 2948) AUTHORS Kim YE, Choi S, Kim JO and Kim KK. TITLE RBFOX3 regulates Claudin-1 expression in human lung tissue via attenuation of proteasomal degradation JOURNAL Biosci. Rep. 37 (1) (2017) PUBMED 28126724 REMARK GeneRIF: In human lung tissue, Claudin-1 is higher in RBFOX3-positive cells than in RBFOX3-negative cells. Immunostaining and mRNA quantification revealed that...
Synonym: FOX-3; FOX3; HRNBP3; NEUN
NM_001385847.1 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens RNA binding fox-1 homolog 3 (RBFOX3), transcript variant 24, mRNA. (3070 bp)
to inhibit the growth and invasion of HCC cells through PI3K/AKT and epithelial-mesenchymal transition (EMT) signaling, and promote apoptosis by activating the cytochrome-c/caspase signaling pathway. REFERENCE 2 (bases 1 to 3070) AUTHORS Kim YE, Choi S, Kim JO and Kim KK. TITLE RBFOX3 regulates Claudin-1 expression in human lung tissue via attenuation of proteasomal degradation JOURNAL Biosci. Rep. 37 (1) (2017) PUBMED 28126724 REMARK GeneRIF: In human lung tissue, Claudin-1 is higher in RBFOX3-positive cells than in RBFOX3-negative cells. Immunostaining and mRNA quantification revealed that...
Synonym: FOX-3; FOX3; HRNBP3; NEUN
NM_001385824.1 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens RNA binding fox-1 homolog 3 (RBFOX3), transcript variant 27, mRNA. (3043 bp)
to inhibit the growth and invasion of HCC cells through PI3K/AKT and epithelial-mesenchymal transition (EMT) signaling, and promote apoptosis by activating the cytochrome-c/caspase signaling pathway. REFERENCE 2 (bases 1 to 3043) AUTHORS Kim YE, Choi S, Kim JO and Kim KK. TITLE RBFOX3 regulates Claudin-1 expression in human lung tissue via attenuation of proteasomal degradation JOURNAL Biosci. Rep. 37 (1) (2017) PUBMED 28126724 REMARK GeneRIF: In human lung tissue, Claudin-1 is higher in RBFOX3-positive cells than in RBFOX3-negative cells. Immunostaining and mRNA quantification revealed that...
Synonym: FOX-3; FOX3; HRNBP3; NEUN
NM_001385827.1 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens RNA binding fox-1 homolog 3 (RBFOX3), transcript variant 23, mRNA. (3233 bp)
to inhibit the growth and invasion of HCC cells through PI3K/AKT and epithelial-mesenchymal transition (EMT) signaling, and promote apoptosis by activating the cytochrome-c/caspase signaling pathway. REFERENCE 2 (bases 1 to 3233) AUTHORS Kim YE, Choi S, Kim JO and Kim KK. TITLE RBFOX3 regulates Claudin-1 expression in human lung tissue via attenuation of proteasomal degradation JOURNAL Biosci. Rep. 37 (1) (2017) PUBMED 28126724 REMARK GeneRIF: In human lung tissue, Claudin-1 is higher in RBFOX3-positive cells than in RBFOX3-negative cells. Immunostaining and mRNA quantification revealed that...
Synonym: FOX-3; FOX3; HRNBP3; NEUN
NM_001385823.1 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens RNA binding fox-1 homolog 3 (RBFOX3), transcript variant 22, mRNA. (3160 bp)
to inhibit the growth and invasion of HCC cells through PI3K/AKT and epithelial-mesenchymal transition (EMT) signaling, and promote apoptosis by activating the cytochrome-c/caspase signaling pathway. REFERENCE 2 (bases 1 to 3160) AUTHORS Kim YE, Choi S, Kim JO and Kim KK. TITLE RBFOX3 regulates Claudin-1 expression in human lung tissue via attenuation of proteasomal degradation JOURNAL Biosci. Rep. 37 (1) (2017) PUBMED 28126724 REMARK GeneRIF: In human lung tissue, Claudin-1 is higher in RBFOX3-positive cells than in RBFOX3-negative cells. Immunostaining and mRNA quantification revealed that...
Synonym: FOX-3; FOX3; HRNBP3; NEUN
NM_001385822.1 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)

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0.594 | 0.006 | cgi_end;

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If you use GGRNA in your work, please cite:
Naito Y, Bono H. (2012)
GGRNA: an ultrafast, transcript-oriented search engine for genes and transcripts.
Nucleic Acids Res., 40, W592-W596. [Full Text]