Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	51075
Gene name	Thioredoxin related transmembrane protein 2
Gene symbol	TMX2
Synonyms (NCBI Gene)	CGI-31NEDMCMSPDIA12PIG26TXNDC14
Chromosome	11
Chromosome location	11q12.1
Summary	This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, a catalytically ac

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Show/Hide all (209)

miRTarBase ID	miRNA	Experiments	Reference
MIRT052549	hsa-let-7a-5p	CLASH	23622248
MIRT048152	hsa-miR-196a-5p	CLASH	23622248
MIRT038472	hsa-miR-296-3p	CLASH	23622248
MIRT645114	hsa-miR-605-5p	HITS-CLIP	23824327
MIRT645113	hsa-miR-4733-5p	HITS-CLIP	23824327
MIRT645112	hsa-miR-556-3p	HITS-CLIP	23824327
MIRT645114	hsa-miR-605-5p	HITS-CLIP	23824327
MIRT645113	hsa-miR-4733-5p	HITS-CLIP	23824327
MIRT645112	hsa-miR-556-3p	HITS-CLIP	23824327
MIRT645114	hsa-miR-605-5p	HITS-CLIP	23824327
MIRT645113	hsa-miR-4733-5p	HITS-CLIP	23824327
MIRT645112	hsa-miR-556-3p	HITS-CLIP	23824327
MIRT645114	hsa-miR-605-5p	HITS-CLIP	23824327
MIRT645113	hsa-miR-4733-5p	HITS-CLIP	23824327
MIRT645112	hsa-miR-556-3p	HITS-CLIP	23824327
MIRT1441902	hsa-miR-1913	CLIP-seq
MIRT1441903	hsa-miR-3130-5p	CLIP-seq
MIRT1441904	hsa-miR-3150a-3p	CLIP-seq
MIRT1441905	hsa-miR-3151	CLIP-seq
MIRT1441906	hsa-miR-3175	CLIP-seq
MIRT1441907	hsa-miR-3189-5p	CLIP-seq
MIRT1441908	hsa-miR-324-3p	CLIP-seq
MIRT1441909	hsa-miR-4257	CLIP-seq
MIRT1441910	hsa-miR-4447	CLIP-seq
MIRT1441911	hsa-miR-4455	CLIP-seq
MIRT1441912	hsa-miR-4472	CLIP-seq
MIRT1441913	hsa-miR-4482	CLIP-seq
MIRT1441914	hsa-miR-4668-3p	CLIP-seq
MIRT1441915	hsa-miR-4668-5p	CLIP-seq
MIRT1441916	hsa-miR-4704-3p	CLIP-seq
MIRT1441917	hsa-miR-4758-3p	CLIP-seq
MIRT1441918	hsa-miR-4788	CLIP-seq
MIRT1441919	hsa-miR-4803	CLIP-seq
MIRT1441920	hsa-miR-491-5p	CLIP-seq
MIRT1441921	hsa-miR-570	CLIP-seq
MIRT1441922	hsa-miR-609	CLIP-seq
MIRT1441923	hsa-miR-939	CLIP-seq
MIRT1441918	hsa-miR-4788	CLIP-seq
MIRT2353269	hsa-miR-432	CLIP-seq
MIRT2353270	hsa-miR-4443	CLIP-seq
MIRT2353271	hsa-miR-4453	CLIP-seq
MIRT1441911	hsa-miR-4455	CLIP-seq
MIRT2353272	hsa-miR-4538	CLIP-seq
MIRT1441918	hsa-miR-4788	CLIP-seq
MIRT2353273	hsa-miR-603	CLIP-seq
MIRT1441922	hsa-miR-609	CLIP-seq
MIRT2647053	hsa-miR-1184	CLIP-seq
MIRT2647054	hsa-miR-1207-5p	CLIP-seq
MIRT2647055	hsa-miR-1245b-5p	CLIP-seq
MIRT2647056	hsa-miR-1254	CLIP-seq
MIRT2647057	hsa-miR-1270	CLIP-seq
MIRT2647058	hsa-miR-1273c	CLIP-seq
MIRT2647059	hsa-miR-1273g	CLIP-seq
MIRT2647060	hsa-miR-1276	CLIP-seq
MIRT2647061	hsa-miR-140-3p	CLIP-seq
MIRT2647062	hsa-miR-1470	CLIP-seq
MIRT2647063	hsa-miR-1825	CLIP-seq
MIRT1441902	hsa-miR-1913	CLIP-seq
MIRT2647064	hsa-miR-199a-5p	CLIP-seq
MIRT2647065	hsa-miR-199b-5p	CLIP-seq
MIRT2647066	hsa-miR-3116	CLIP-seq
MIRT2647067	hsa-miR-3117-3p	CLIP-seq
MIRT2647068	hsa-miR-3125	CLIP-seq
MIRT2647069	hsa-miR-3127-3p	CLIP-seq
MIRT1441903	hsa-miR-3130-5p	CLIP-seq
MIRT2647070	hsa-miR-3142	CLIP-seq
MIRT2647071	hsa-miR-3154	CLIP-seq
MIRT2647072	hsa-miR-3155	CLIP-seq
MIRT2647073	hsa-miR-3155b	CLIP-seq
MIRT2647074	hsa-miR-3158-3p	CLIP-seq
MIRT2647075	hsa-miR-3169	CLIP-seq
MIRT2647076	hsa-miR-3187-3p	CLIP-seq
MIRT1441907	hsa-miR-3189-5p	CLIP-seq
MIRT1441908	hsa-miR-324-3p	CLIP-seq
MIRT2647077	hsa-miR-3667-3p	CLIP-seq
MIRT2647078	hsa-miR-3679-3p	CLIP-seq
MIRT2647079	hsa-miR-3688-3p	CLIP-seq
MIRT2647080	hsa-miR-3916	CLIP-seq
MIRT2647081	hsa-miR-3925-3p	CLIP-seq
MIRT2647082	hsa-miR-3978	CLIP-seq
MIRT2647083	hsa-miR-4278	CLIP-seq
MIRT2647084	hsa-miR-4286	CLIP-seq
MIRT2647085	hsa-miR-4297	CLIP-seq
MIRT2353269	hsa-miR-432	CLIP-seq
MIRT2647086	hsa-miR-4434	CLIP-seq
MIRT2647087	hsa-miR-4435	CLIP-seq
MIRT2353270	hsa-miR-4443	CLIP-seq
MIRT2353271	hsa-miR-4453	CLIP-seq
MIRT2647088	hsa-miR-4477b	CLIP-seq
MIRT1441913	hsa-miR-4482	CLIP-seq
MIRT2647089	hsa-miR-4516	CLIP-seq
MIRT2647090	hsa-miR-451b	CLIP-seq
MIRT2647091	hsa-miR-4531	CLIP-seq
MIRT2353272	hsa-miR-4538	CLIP-seq
MIRT2647092	hsa-miR-4650-5p	CLIP-seq
MIRT1441914	hsa-miR-4668-3p	CLIP-seq
MIRT1441915	hsa-miR-4668-5p	CLIP-seq
MIRT2647093	hsa-miR-4670-5p	CLIP-seq
MIRT2647094	hsa-miR-4683	CLIP-seq
MIRT2647095	hsa-miR-4701-5p	CLIP-seq
MIRT1441916	hsa-miR-4704-3p	CLIP-seq
MIRT2647096	hsa-miR-4712-3p	CLIP-seq
MIRT2647097	hsa-miR-4715-5p	CLIP-seq
MIRT2647098	hsa-miR-4716-3p	CLIP-seq
MIRT2647099	hsa-miR-4720-3p	CLIP-seq
MIRT2647100	hsa-miR-4736	CLIP-seq
MIRT2647101	hsa-miR-4753-3p	CLIP-seq
MIRT1441917	hsa-miR-4758-3p	CLIP-seq
MIRT2647102	hsa-miR-4759	CLIP-seq
MIRT2647103	hsa-miR-4763-3p	CLIP-seq
MIRT2647104	hsa-miR-4768-3p	CLIP-seq
MIRT2647105	hsa-miR-4786-3p	CLIP-seq
MIRT2647106	hsa-miR-4797-5p	CLIP-seq
MIRT1441919	hsa-miR-4803	CLIP-seq
MIRT2647107	hsa-miR-484	CLIP-seq
MIRT2647108	hsa-miR-486-5p	CLIP-seq
MIRT2647109	hsa-miR-490-5p	CLIP-seq
MIRT2647110	hsa-miR-494	CLIP-seq
MIRT2647111	hsa-miR-511	CLIP-seq
MIRT2647112	hsa-miR-513c	CLIP-seq
MIRT2647113	hsa-miR-514b-5p	CLIP-seq
MIRT2647114	hsa-miR-548ac	CLIP-seq
MIRT2647115	hsa-miR-548ae	CLIP-seq
MIRT2647116	hsa-miR-548aj	CLIP-seq
MIRT2647117	hsa-miR-548am	CLIP-seq
MIRT2647118	hsa-miR-548d-3p	CLIP-seq
MIRT2647119	hsa-miR-548m	CLIP-seq
MIRT2647120	hsa-miR-548s	CLIP-seq
MIRT2647121	hsa-miR-548x	CLIP-seq
MIRT2647122	hsa-miR-548z	CLIP-seq
MIRT2647123	hsa-miR-550a	CLIP-seq
MIRT1441921	hsa-miR-570	CLIP-seq
MIRT2647124	hsa-miR-578	CLIP-seq
MIRT2647125	hsa-miR-588	CLIP-seq
MIRT2647126	hsa-miR-620	CLIP-seq
MIRT2647127	hsa-miR-654-3p	CLIP-seq
MIRT2647053	hsa-miR-1184	CLIP-seq
MIRT2647054	hsa-miR-1207-5p	CLIP-seq
MIRT2647055	hsa-miR-1245b-5p	CLIP-seq
MIRT2647056	hsa-miR-1254	CLIP-seq
MIRT2647057	hsa-miR-1270	CLIP-seq
MIRT2647059	hsa-miR-1273g	CLIP-seq
MIRT2693611	hsa-miR-1275	CLIP-seq
MIRT2647060	hsa-miR-1276	CLIP-seq
MIRT2647061	hsa-miR-140-3p	CLIP-seq
MIRT2647062	hsa-miR-1470	CLIP-seq
MIRT2647063	hsa-miR-1825	CLIP-seq
MIRT1441902	hsa-miR-1913	CLIP-seq
MIRT2647064	hsa-miR-199a-5p	CLIP-seq
MIRT2647065	hsa-miR-199b-5p	CLIP-seq
MIRT2647066	hsa-miR-3116	CLIP-seq
MIRT2647068	hsa-miR-3125	CLIP-seq
MIRT1441903	hsa-miR-3130-5p	CLIP-seq
MIRT2647070	hsa-miR-3142	CLIP-seq
MIRT2647072	hsa-miR-3155	CLIP-seq
MIRT2647073	hsa-miR-3155b	CLIP-seq
MIRT2647076	hsa-miR-3187-3p	CLIP-seq
MIRT2693612	hsa-miR-3189-3p	CLIP-seq
MIRT1441907	hsa-miR-3189-5p	CLIP-seq
MIRT1441908	hsa-miR-324-3p	CLIP-seq
MIRT2693613	hsa-miR-3647-3p	CLIP-seq
MIRT2647077	hsa-miR-3667-3p	CLIP-seq
MIRT2647078	hsa-miR-3679-3p	CLIP-seq
MIRT2647079	hsa-miR-3688-3p	CLIP-seq
MIRT2647080	hsa-miR-3916	CLIP-seq
MIRT2647081	hsa-miR-3925-3p	CLIP-seq
MIRT2647082	hsa-miR-3978	CLIP-seq
MIRT2647085	hsa-miR-4297	CLIP-seq
MIRT2353269	hsa-miR-432	CLIP-seq
MIRT2693614	hsa-miR-4427	CLIP-seq
MIRT2647086	hsa-miR-4434	CLIP-seq
MIRT2647087	hsa-miR-4435	CLIP-seq
MIRT2353270	hsa-miR-4443	CLIP-seq
MIRT2353271	hsa-miR-4453	CLIP-seq
MIRT1441913	hsa-miR-4482	CLIP-seq
MIRT2647089	hsa-miR-4516	CLIP-seq
MIRT2693615	hsa-miR-4525	CLIP-seq
MIRT2647091	hsa-miR-4531	CLIP-seq
MIRT2353272	hsa-miR-4538	CLIP-seq
MIRT2647092	hsa-miR-4650-5p	CLIP-seq
MIRT2693616	hsa-miR-4665-5p	CLIP-seq
MIRT1441914	hsa-miR-4668-3p	CLIP-seq
MIRT1441915	hsa-miR-4668-5p	CLIP-seq
MIRT2693617	hsa-miR-4680-3p	CLIP-seq
MIRT2647094	hsa-miR-4683	CLIP-seq
MIRT2647095	hsa-miR-4701-5p	CLIP-seq
MIRT1441916	hsa-miR-4704-3p	CLIP-seq
MIRT2647096	hsa-miR-4712-3p	CLIP-seq
MIRT2647097	hsa-miR-4715-5p	CLIP-seq
MIRT2693618	hsa-miR-4723-5p	CLIP-seq
MIRT2647100	hsa-miR-4736	CLIP-seq
MIRT2647101	hsa-miR-4753-3p	CLIP-seq
MIRT1441917	hsa-miR-4758-3p	CLIP-seq
MIRT2647103	hsa-miR-4763-3p	CLIP-seq
MIRT2647104	hsa-miR-4768-3p	CLIP-seq
MIRT2647106	hsa-miR-4797-5p	CLIP-seq
MIRT1441919	hsa-miR-4803	CLIP-seq
MIRT2647107	hsa-miR-484	CLIP-seq
MIRT2647108	hsa-miR-486-5p	CLIP-seq
MIRT2647109	hsa-miR-490-5p	CLIP-seq
MIRT2647110	hsa-miR-494	CLIP-seq
MIRT2647120	hsa-miR-548s	CLIP-seq
MIRT2647123	hsa-miR-550a	CLIP-seq
MIRT1441921	hsa-miR-570	CLIP-seq
MIRT2647124	hsa-miR-578	CLIP-seq
MIRT2647125	hsa-miR-588	CLIP-seq
MIRT2647126	hsa-miR-620	CLIP-seq
MIRT2693619	hsa-miR-625	CLIP-seq
MIRT2647127	hsa-miR-654-3p	CLIP-seq

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	31735293, 32296183, 33961781
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	IMP	31735293
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	31735293
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0007420	Process	Brain development	IBA
GO:0007420	Process	Brain development	IMP	31735293
GO:0015036	Function	Disulfide oxidoreductase activity	IBA
GO:0015036	Function	Disulfide oxidoreductase activity	IDA	31735293
GO:0016020	Component	Membrane	IEA
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0044233	Component	Mitochondria-associated endoplasmic reticulum membrane contact site	IBA
GO:0044233	Component	Mitochondria-associated endoplasmic reticulum membrane contact site	IDA	22045338
GO:0044233	Component	Mitochondria-associated endoplasmic reticulum membrane contact site	IDA	31735293

MIM	HGNC	e!Ensembl
616715	30739	ENSG00000213593

Q9Y320

Protein name

Thioredoxin-related transmembrane protein 2 (Cell proliferation-inducing gene 26 protein) (Thioredoxin domain-containing protein 14)

Protein function

Endoplasmic reticulum and mitochondria-associated protein that probably functions as a regulator of cellular redox state and thereby regulates protein post-translational modification, protein folding and mitochondrial activity. Indirectly regula

PDB

2DJ0

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00085	Thioredoxin	137 → 242	Thioredoxin	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:12670024}.

Sequence

MAVLAPLIALVYSVPRLSRWLAQPYYLLSALLSAAFLLVRKLPPLCHGLPTQREDGNPCD
FDWREVEILMFLSAIVMMKNRRSITVEQHIGNIFMFSKVANTILFFRLDIRMGLLYITLC
IVFLMTCKPPLYMGPEYIKYFNDKTIDEELERDKRVTWIVEFFANWSNDCQSFAPIYADL
SLKYNCTGLNFGKVDVGRYTDVSTRYKVSTSPLTKQLPTLILFQGGKEAMRRPQIDKKGR
AVSWTFSEENVIREFNLNELYQRAKKLSKAGDNIPEEQPVASTPTTVSDGENKKDK

Sequence length

296

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity	Likely pathogenic; Pathogenic	rs377715702, rs2495048806, rs1398376742, rs1274824614, rs752744834, rs145634348, rs1209396791, rs367990143	RCV001331969 RCV003881696 RCV000991344 RCV000991345 RCV000991346 RCV000991348 RCV000991349 RCV000991350 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Abnormality of the nervous system	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANXIETY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TMX2-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (11)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Brain Diseases	Brain disease	Pubtator	31735293	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	24443386		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	38147024	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Pervasive	Development Disorder	GWASCAT_DG	28540026		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital microcephaly	Congenital Microcephaly	BEFREE	31735293		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	31270415		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	31270415		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24443386		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	GENOMICS_ENGLAND_DG	31270415		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	31586943, 31735293	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	28540026, 29483656		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

TMX2 (thioredoxin related transmembrane protein 2)