TMX2 (thioredoxin related transmembrane protein 2)

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Gene miRNA Gene ontology Other IDs Protein Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 51075
• Gene name: Thioredoxin related transmembrane protein 2
• Gene symbol: TMX2
• Synonyms (NCBI Gene): CGI-31, NEDMCMS, PDIA12, PIG26, TXNDC14
• 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

miRNA 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

Gene ontology (GO) 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

Other IDs

• MIM: 616715
• HGNC: 30739
• e!Ensembl: ENSG00000213593

Protein

• UniProt ID: 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

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (7)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Abnormality of the nervous system	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANXIETY DISORDER	—	GWAS catalog	39294497	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	28540026	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER	—	CTD	31586943, 31735293	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	25056061, 26198764, 28540026, 28991256, 29483656, 30285260, 31268507, 31740837	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TMX2-related disorder	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (11)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
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

Related Genes

Sort by: Blended Diseases Pathways Evidence source

RAB11B 3 shared evidence sourcesClinVar (Neurodevelopmental disorder), CTD (Neurodevelopmental disorder), HPO (Neurodevelopmental disorder) Related via 3 shared evidence sources. UFC1 3 shared evidence sourcesClinVar (Neurodevelopmental disorder), CTD (Neurodevelopmental disorder), HPO (Neurodevelopmental disorder) Related via 3 shared evidence sources. HECW2 1 shared diseaseCongenital neurologic anomalies 4 shared evidence sourcesClinVar (Neurodevelopmental disorder), CTD (Neurodevelopmental disorder), HPO (Neurodevelopmental disorder), Disgenet (Congenital neurologic anomalies) Related via 1 shared disease including Congenital neurologic anomalies — evidence mostly ClinVar. DYNC1I2 3 shared evidence sourcesClinVar (Neurodevelopmental disorder), CTD (Neurodevelopmental disorder), HPO (Neurodevelopmental disorder) Related via 3 shared evidence sources. SNAPC4 3 shared evidence sourcesClinVar (Neurodevelopmental disorder), CTD (Neurodevelopmental disorder), HPO (Neurodevelopmental disorder) Related via 3 shared evidence sources.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
RAB11B	0	[]	0	[]	3	["ClinVar (Neurodevelopmental disorder)","CTD (Neurodevelopmental disorder)","HPO (Neurodevelopmental disorder)"]
UFC1	0	[]	0	[]	3	["ClinVar (Neurodevelopmental disorder)","CTD (Neurodevelopmental disorder)","HPO (Neurodevelopmental disorder)"]
HECW2	1	["Congenital neurologic anomalies"]	0	[]	4	["ClinVar (Neurodevelopmental disorder)","CTD (Neurodevelopmental disorder)","HPO (Neurodevelopmental disorder)","Disgenet (Congenital neurologic anomalies)"]
DYNC1I2	0	[]	0	[]	3	["ClinVar (Neurodevelopmental disorder)","CTD (Neurodevelopmental disorder)","HPO (Neurodevelopmental disorder)"]
SNAPC4	0	[]	0	[]	3	["ClinVar (Neurodevelopmental disorder)","CTD (Neurodevelopmental disorder)","HPO (Neurodevelopmental disorder)"]

Diseases Linked via Similar Genes

Metabolic syndrome Linked via 1 of 5 related genesRAB11B Diabetes mellitus type 2 Linked via 1 of 5 related genesRAB11B Alzheimer disease Linked via 1 of 5 related genesUFC1 Developmental disability Linked via 1 of 5 related genesHECW2 Non-specific syndromic intellectual disability Linked via 1 of 5 related genesHECW2

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Metabolic syndrome	1	["RAB11B"]
Diabetes mellitus type 2	1	["RAB11B"]
Alzheimer disease	1	["UFC1"]
Developmental disability	1	["HECW2"]
Non-specific syndromic intellectual disability	1	["HECW2"]