Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79770
Gene name Gene Name - the full gene name approved by the HGNC.
Thioredoxin domain containing 15
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TXNDC15
Synonyms (NCBI Gene) Gene synonyms aliases
BUG, C5orf14, MKS14, TMX5, UNQ335
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q31.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the thioredoxin superfamily. Members of this family are characterized by a conserved active motif called the thioredoxin fold that catalyzes disulfide bond formation and isomerization. [provided by RefSeq, Apr 2017]
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs768237094 C>A,T Pathogenic Synonymous variant, coding sequence variant, stop gained
rs886039791 AGTTTGGCCCCTCAC>- Likely-pathogenic Coding sequence variant, inframe deletion
rs886039792 G>A Likely-pathogenic Intron variant, splice donor variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT050736 hsa-miR-18a-5p CLASH 23622248
MIRT1464915 hsa-let-7a CLIP-seq
MIRT1464916 hsa-let-7b CLIP-seq
MIRT1464917 hsa-let-7c CLIP-seq
MIRT1464918 hsa-let-7d CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005886 Component Plasma membrane IEA
GO:0005929 Component Cilium IBA
GO:0005929 Component Cilium IEA
GO:0005929 Component Cilium ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
617778 20652 ENSG00000113621
Protein
UniProt ID Q96J42
Protein name Thioredoxin domain-containing protein 15
Protein function Acts as a positive regulator of ciliary hedgehog signaling (By similarity). Involved in ciliogenesis (PubMed:27894351).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00085 Thioredoxin 191 293 Thioredoxin Domain
Sequence
MVPAAGRRPPRVMRLLGWWQVLLWVLGLPVRGVEVAEESGRLWSEEQPAHPLQVGAVYLG
EEELLHDPMGQDRAAEEANAVLGLDTQGDHMVMLSVIPGEAEDKVSSEPSGVTCGAGGAE
DSRCNVRESLFSLDGAGAHFPDREEEYYTEPEVAESDAAPTEDSNNTESLKSPKVNCEER
NITGLENFTLKILNMSQDLMDFLNPNGSDCTLVLFYTPWCRFSASLAPHFNSLPRAFPAL
HFLALDASQHSSLSTRFGTVAVPNILLFQGAKPMARFNHTDRTLETLKIFIFN
QTGIEAK
KNVVVTQADQIGPLPSTLIKSVDWLLVFSLFFLISFIMYATIRTESIRWLIPGQEQEHVE
Sequence length 360
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Meckel Syndrome Meckel syndrome 14 rs886039792, rs886039791, rs768237094 N/A
Meckel-Gruber Syndrome meckel-gruber syndrome rs886039792, rs886039791, rs768237094 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Ciliopathies Associate 27894351
Lymphoma B Cell Associate 12200383
Meckel syndrome type 1 Associate 27894351, 30851085, 38073519
Multiple Myeloma Associate 12200383