TXNDC15 - thioredoxin domain containing 15 Gene

Also Known as BUG; MKS14; UNQ335; C5orf14

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 79770

About TXNDC15

Cytogenetic location: 5q31.1 Genomic coordinates (GRCh38): 5:134,873,770-134,901,635 (from NCBI)

This gene has 10 transcripts (splice variants), 194 orthologues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 14.9), endometrium (RPKM 10.8) and 25 other tissues.

Summary

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]

TXNDC15 Products (2)

mRNA Protein Name
NM_001350735.2 NP_001337664.1 thioredoxin domain-containing protein 15 isoform 2
NM_024715.4 NP_078991.3 thioredoxin domain-containing protein 15 isoform 1 precursor
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TXNDC15 Protein Structure

Thioredoxin

Thioredoxin: Thioredoxin (207 - 291)

  • 0
  • 100
  • 200
  • 300
  • 360 a.a.
Protein Preferred Names Protein Names

thioredoxin domain-containing protein 15

  • 2310047H23Rik

Recombinant TXNDC15 Proteins

Cat. No. Product Name Accession Purity
HY-P71394 TXNDC15 Protein, Human (HEK293, His) Q96J42-1 (V33-S321) ≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Meckel Syndrome 14
  • MKS14

Meckel Syndrome, Type 1
  • Meckel-Gruber Syndrome

  • Meckel Syndrome

  • Dysencephalia Splanchnocystica

  • Meckel Syndrome 1

  • MKS1

  • Mks

  • Gruber Syndrome

  • Meckel-Gruber Syndrome, Type 1

  • Mes

  • Dysencephalia Splachnocystica

  • Meckel Gruber Syndrome

  • Meckel Syndrome Type 1

Lung Occult Small Cell Carcinoma
  • Occult Small Cell Carcinoma Of Lung

  • Occult Small Cell Carcinoma Of The Lung

Periodontosis
  • Periodontitis, Juvenile

  • Parodontosis

  • Paradentosis

Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
  • Asphyxiating Thoracic Dystrophy 3

  • Saldino-Noonan Syndrome

  • SRTD3

  • Atd3

  • Srps1

  • Srps3

  • Verma-Naumoff Syndrome

  • Srps2b

  • Short Rib-Polydactyly Syndrome, Verma-Naumoff Type

  • Short Rib-Polydactyly Syndrome, Type I

  • Polydactyly With Neonatal Chondrodystrophy, Type I

  • Polydactyly With Neonatal Chondrodystrophy, Type Iii

  • Short Rib-Polydactyly Syndrome, Type Iib

  • Short Rib-Polydactyly Syndrome Type 3

  • Polydactyly With Neonatal Chondrodystrophy Type Iii

  • Short Rib-Polydactyly Syndrome Type Iii

  • Short Rib-Polydactyly Syndrome Type 1

  • Short Rib-Polydactyly Syndrome, Saldino-Noonan Type

  • Majewski Syndrome

  • Short Rib-Polydactyly Syndrome, Type Iii

  • Type I Short Rib Polydactyly Syndrome

  • Srps Type 3

  • Short Rib Polydactyly Syndrome Verma Naumoff Type

  • Verma Naumoff Syndrome

  • Polydactyly With Neonatal Chondrodystrophy Type 1

  • Srps Type 1

  • Short Rib-Polydactyly Syndrome Saldino-Noonan Type

  • Jatd

  • Jeune Asphyxiating Thoracic Dystrophy

  • Jeune Syndrome 3

  • Polydactyly With Neonatal Chondrodystrophy Type I

  • Short Rib-Polydactyly Syndrome Type I

  • Short Rib-Polydactyly Syndrome Type Iib

  • Srps Type Iib

  • Srps Type Iii

Coach Syndrome 1
  • Coach Syndrome

  • Joubert Syndrome With Congenital Hepatic Fibrosis

  • Gentile Syndrome

  • Joubert Syndrome With Hepatic Defect

  • Js-H

  • COACH1

  • Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Congenital Ataxia, Ocular Coloboma, And Hepatic Fibrosis

  • Cerebellar Vermis Hypoplasia-Oligophrenia-Congenital Ataxia-Coloboma-Hepatic Fibrosis

  • Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Ataxia Congenital, Coloboma, And Hepatic Fibrosis

  • Cerebellar Vermis Hypo/Aplasia Oligophrenia Congenital Ataxia Ocular Coloboma And Hepatic Fibrosis

Kbg Syndrome
  • KBGS

  • Macrodontia, Mental Retardation, Characteristic Facies, Short Stature, And Skeletal Anomalies

  • Short Stature, Characteristic Facies, Macrodontia, Intellectual Disability, And Skeletal Anomalies

  • Short Stature, Characteristic Facies, Macrodontia, Mental Retardation, And Skeletal Anomalies

  • Short Stature-Characteristic Facies-Mental Retardation-Macrodontia-Skeletal Anomalies Syndrome

  • Short Stature-Facial And Skeletal Anomalies-Intellectual Disability-Macrodontia Syndrome

Short-Rib Thoracic Dysplasia 12
  • Beemer-Langer Syndrome

  • Type Iv Short Rib Polydactyly Syndrome

  • Short Rib-Polydactyly Syndrome Type 4

  • Short Rib-Polydactyly Syndrome, Beemer Type

  • SRTD12

  • Short Rib-Polydactyly Syndrome, Type Iv

  • Srps4

  • Srps Iv

  • Short Rib Syndrome, Beemer Type

  • Beemer Langer Syndrome

  • Srps Type 4

  • Short Rib Polydactyly Syndrome Beemer-Langer Type

  • Short Rib-Polydactyly Syndrome Beemer Type

  • Short Rib-Polydactyly Syndrome Type Iv

  • Short Rib-Polydactyly Syndrome, Beemer-Langer Type

Townes-Brocks Syndrome
  • Townes Syndrome

  • Renal-Ear-Anal-Radial Syndrome

  • Anus, Imperforate, With Hand, Foot And Ear Anomalies

  • Imperforate Anus-Hand, Foot And Ear Anomalies Syndrome

  • Rear Syndrome

  • Sensorineural Deafness With Imperforate Anus And Hypoplastic Thumbs

  • Tbs

  • Deafness, Sensorineural, With Imperforate Anus And Hypoplastic Thumbs

  • Imperforate Anus With Hand, Foot And Ear Anomalies

  • Anal-Ear-Renal-Radial Malformation Syndrome

  • Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome

  • Imperforate Anus-Hand And Foot Anomalies Syndrome

  • Sensorineural Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome

  • Sensorineural Hearing Loss With Imperforate Anus And Hypoplastic Thumbs

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris TXNDC15 VGNC VGNC:48012
Felis catus TXNDC15 VGNC VGNC:66726
Macaca mulatta TXNDC15 VGNC VGNC:110425
Bos taurus TXNDC15 VGNC VGNC:36536
Rattus norvegicus TXNDC15 RGD RGD:1304696
Mus musculus TXNDC15 MGD MGI:1916922
Others TXNDC15 NCBI