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
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MKS14
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:0005929 Component Cilium IBA 21873635
GO:0005929 Component Cilium ISS
GO:0016021 Component Integral component of membrane IEA
GO:0045880 Process Positive regulation of smoothened signaling pathway 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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
Meckel syndrome Meckel syndrome type 1 rs201108965, rs386833831, rs386833830, rs116358011, rs118204052, rs121918201, rs121918202, rs121918203, rs137852835, rs267606719, rs386834200, rs386834204, rs386834207, rs137853106, rs386834187
View all (125 more)
27894351
Meckel-gruber syndrome Meckel-Gruber syndrome rs121918203, rs137852832, rs386833760, rs386834180, rs397514753, rs62640570, rs587777145, rs377177061, rs587779733, rs587779736, rs730882231, rs730882233, rs786205508, rs201787275, rs886039792
View all (9 more)
Mungan syndrome MUNGAN SYNDROME rs775266057 27894351
Unknown
Disease term Disease name Evidence References Source
Ambiguous genitalia Ambiguous Genitalia ClinVar
Meckel Syndrome Meckel syndrome, meckel syndrome 14 GenCC
Diabetes Diabetes GWAS
Associations from Text Mining
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