tjp2b

Ensembl ID:
ENSDARG00000023443
ZFIN ID:
ZDB-GENE-040718-58
Description:
tight junction protein 2b [Source:RefSeq peptide;Acc:NP_001002366]
Human Orthologue:
TJP2
Human Description:
tight junction protein 2 (zona occludens 2) [Source:HGNC Symbol;Acc:11828]
Mouse Orthologue:
Tjp2
Mouse Description:
tight junction protein 2 Gene [Source:MGI Symbol;Acc:MGI:1341872]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa21212 Essential Splice Site Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa21212
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000018739 None None 371 None 9
ENSDART00000092355 None None 389 None 7
ENSDART00000115057 Essential Splice Site 489 1204 9 23
ENSDART00000136184 Essential Splice Site 464 1179 8 22

The following transcripts of ENSDARG00000023443 do not overlap with this mutation:

Genomic Location:
Chromosome 8 (position 12021738)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GAGAGTAGAACCACAGGATGAAGAGCCACCACCACCGCCACCACCACCAC[G/A]TATGAACGTCATTTTGTAATTTCTTCATAGCTGATTGTAAAAACTGTAAT
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

  • Refractive error: Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. (View Study)
  • Renal sinus fat : Heritability and genome-wide association analysis of renal sinus fat accumulation in the Framingham Heart Study. (View Study)

(GWAS data comes from http://www.genome.gov/gwastudies/.)

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* quick link - http://q.sanger.ac.uk/9kmtuywo