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TXNDC15 (thioredoxin domain containing 15)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79770
Gene nameGene Name - the full gene name approved by the HGNC.
Thioredoxin domain containing 15
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
TXNDC15
SynonymsGene synonyms aliases
BUG, C5orf14, MKS14, TMX5, UNQ335
ChromosomeChromosome number
5
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q31.1
SummarySummary 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]
SNPsSNP 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
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Causal
Disease name Disease term dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243
Meckel syndrome Meckel syndrome type 1 rs267606693, rs201108965, rs386833831, rs386833830, rs116358011, rs118204052, rs121918201, rs121918202, rs121918203, rs137852835, rs267606719, rs386834200, rs386834204, rs386834207, rs137853106, rs386834187, rs137853108, rs267607119, rs730880323, rs386834052, rs199874059, rs1487082103, rs374349989, rs143149764, rs786205126, rs386833745, rs386833746, rs386833747, rs386833748, rs386833749, rs386833750, rs386833751, rs386833752, rs386833753, rs386833754, rs386833755, rs386833756, rs386833757, rs386833760, rs386833762, rs386833763, rs386833765, rs11230683, rs386833998, rs386834041, rs386834042, rs386834044, rs386834045, rs386834046, rs386834047, rs386834049, rs386834050, rs201933838, rs386834051, rs386834148, rs386834149, rs386834150, rs386834151, rs386834152, rs386834153, rs62640570, rs386834155, rs386834156, rs386834157, rs386834158, rs386834159, rs386834180, rs386834181, rs386834182, rs386834183, rs386834184, rs386834185, rs386834186, rs386834188, rs386834190, rs386834191, rs386834194, rs386834195, rs386834196, rs386834197, rs386834198, rs386834199, rs386834201, rs386834202, rs386834203, rs386834205, rs386834206, rs386834208, rs397514753, rs397514754, rs377177061, rs386834043, rs756368560, rs797046040, rs760830696, rs797045706, rs779823379, rs386833759, rs749439750, rs539400286, rs863225186, rs863225185, rs758550675, rs749435317, rs375278294, rs886039792, rs886039791, rs886039805, rs886039803, rs1057517498, rs1057517528, rs1057517512, rs767384710, rs865870355, rs775043799, rs763762899, rs1555220638, rs1131692180, rs1555525895, rs1415483600, rs762668200, rs1555220625, rs758593134, rs1369768287, rs1555213204, rs765468645, rs747025617, rs751361090, rs1555599412, rs375170572, rs1560184664, rs773740057, rs1213286417, rs1388769907, rs768237094, rs1209421607, rs1577406415, rs763473957, rs1568484575, rs781310385, rs762633090 27894351
Meckel-gruber syndrome Meckel-Gruber syndrome rs121918203, rs137852832, rs386833760, rs386834180, rs397514753, rs62640570, rs587777145, rs377177061, rs587779733, rs587779736, rs730882231, rs730882233, rs786205508, rs201787275, rs886039792, rs886039791, rs886039804, rs886039805, rs886039806, rs886039803, rs886039793, rs765468645, rs1598057395, rs768237094
Mungan syndrome MUNGAN SYNDROME rs775266057 27894351
Unknown
Disease name Disease term dbSNP ID References
Ambiguous genitalia Ambiguous Genitalia rs782562963
Encephalocele Encephalocele
Occipital encephalocele Occipital Encephalocele

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