tab2

Ensembl ID:

ENSDARG00000021509

ZFIN ID:

ZDB-GENE-040426-933

Description:

TGF-beta-activated kinase 1 and MAP3K7-binding protein 2 [Source:UniProtKB/Swiss-Prot;Acc:Q5RFW2]

Human Orthologue:

TAB2

Human Description:

TGF-beta activated kinase 1/MAP3K7 binding protein 2 [Source:HGNC Symbol;Acc:17075]

Mouse Orthologue:

Tab2

Mouse Description:

TGF-beta activated kinase 1/MAP3K7 binding protein 2 Gene [Source:MGI Symbol;Acc:MGI:1915902]

Alleles

There is 1 allele of this gene:

Mutation Details

Allele Name:

sa6611

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 2015.

Mutation:

T > A

Consequence:

Nonsense

Genomic Location:

Chromosome 20 (position 1360435)

KASP Assay ID:

554-5173.1 (used for ordering genotyping assays from LGC Genomics)

KASP Sequence:

CACCTGCGGCAAAAGTTTCCAGAAGTACCAGAGGACGTGGTGTGTGAGTG[T/A]GTCCTACAGGTGAGAGCTGCTCTGCACAAACWCTGGCTGGATGAGGGYCT

Associated Phenotype:

Not determined

GWAS

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

• Breast cancer: Genome-wide association study in east Asians identifies novel susceptibility loci for breast cancer. (View Study)
• Dupuytren's disease: Wnt signaling and Dupuytren's disease. (View Study)

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

OMIM

• Congenital heart disease, nonsyndromic, 2

More OMIM information for TAB2

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