TXNDC15 thioredoxin domain containing 15 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TXNDC15provided by HGNC
Official Full Name: thioredoxin domain containing 15provided by HGNC
Primary source: HGNC:HGNC:20652
See related: Ensembl:ENSG00000113621 MIM:617778; AllianceGenome:HGNC:20652
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BUG; MKS14; UNQ335; C5orf14
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]
Expression: Ubiquitous expression in thyroid (RPKM 14.9), endometrium (RPKM 10.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q31.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (134873770..134901635)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (135400718..135428599)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (134209460..134237325)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TXNDC15 was identified as a novel causative gene of prenatally diagnosed Meckel-Gruber syndrome.
Title: A prenatally diagnosed case of Meckel-Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene.
Increased surface thiol isomerase activity on platelets, compared with cells of the vascular wall, may explain the platelet-selective actions of S-nitrosoglutathione and help define its antithrombotic potential
Title: Cell surface thiol isomerases may explain the platelet-selective action of S-nitrosoglutathione.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Meckel syndrome 14 MedGen: C5676989 OMIM: 619879 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Many sequence variants affecting diversity of adult human height. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-W46271 (e-PCR)
- UniSTS:42550

D10S16 (e-PCR)
- UniSTS:155756

D1S1423 (e-PCR)
- UniSTS:149619

STS-Z40855 (e-PCR)
- UniSTS:23981

GDB:631802 (e-PCR)
- UniSTS:158429

SGC32319 (e-PCR)
- UniSTS:7391

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in cilium assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of smoothened signaling pathway	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in ciliary membrane	IEA Inferred from Electronic Annotation more info
is_active_in cilium	IBA Inferred from Biological aspect of Ancestor more info
located_in cilium	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: thioredoxin domain-containing protein 15

Names: 2310047H23Rik; disulfide isomerase

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_053174.1 RefSeqGene

Range

5602..32866

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001350735.2 → NP_001337664.1 thioredoxin domain-containing protein 15 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (2) with a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AC006077

UniProtKB/TrEMBL

B4DS52

Conserved Domains (1) summary

cd02999
Location:120 → 223

PDI_a_ERp44_like; PDIa family, endoplasmic reticulum protein 44 (ERp44)-like subfamily; composed of uncharacterized PDI-like eukaryotic proteins containing only one redox active TRX (a) domain with a CXXS motif, similar to ERp44. CXXS is still a redox active motif; ...
NM_024715.4 → NP_078991.3 thioredoxin domain-containing protein 15 isoform 1 precursor

See identical proteins and their annotated locations for NP_078991.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AC006077, BC032568, BX538131

Consensus CDS

CCDS4180.1

UniProtKB/Swiss-Prot

D3DQA9, Q96J42, Q96MT2, Q9H639

UniProtKB/TrEMBL

B4DS52

Related

ENSP00000351157.5, ENST00000358387.9

Conserved Domains (1) summary

cd02999
Location:188 → 291

PDI_a_ERp44_like; PDIa family, endoplasmic reticulum protein 44 (ERp44)-like subfamily; composed of uncharacterized PDI-like eukaryotic proteins containing only one redox active TRX (a) domain with a CXXS motif, similar to ERp44. CXXS is still a redox active motif; ...