1. Gene
  2. TXNDC15 - thioredoxin domain containing 15 Gene

TXNDC15 - thioredoxin domain containing 15 Gene

Homo sapiens

Also known as BUG; MKS14; UNQ335; C5orf14

Gene ID: 79770 | Gene type: protein coding

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

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 (V33-S321) ≥95%

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