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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	84816
Gene name	Reticulon 4 interacting protein 1
Gene symbol	RTN4IP1
Synonyms (NCBI Gene)	NIMPOPA10
Chromosome	6
Chromosome location	6q21
Summary	This gene encodes a mitochondrial protein that interacts with reticulon 4, which is a potent inhibitor of regeneration following spinal cord injury. This interaction may be important for reticulon-induced inhibition of neurite growth. Mutations in this ge

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs200457692	T>A,C	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, missense variant
rs372054380	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1582392486	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant

111

Show/Hide all (111)

miRTarBase ID	miRNA	Experiments
MIRT1322207	hsa-miR-10a	CLIP-seq
MIRT1322208	hsa-miR-10b	CLIP-seq
MIRT1322209	hsa-miR-1227	CLIP-seq
MIRT1322210	hsa-miR-1252	CLIP-seq
MIRT1322211	hsa-miR-1262	CLIP-seq
MIRT1322212	hsa-miR-1293	CLIP-seq
MIRT1322213	hsa-miR-199a-5p	CLIP-seq
MIRT1322214	hsa-miR-199b-5p	CLIP-seq
MIRT1322215	hsa-miR-219-5p	CLIP-seq
MIRT1322216	hsa-miR-3122	CLIP-seq
MIRT1322217	hsa-miR-3160-3p	CLIP-seq
MIRT1322218	hsa-miR-3165	CLIP-seq
MIRT1322219	hsa-miR-339-5p	CLIP-seq
MIRT1322220	hsa-miR-3611	CLIP-seq
MIRT1322221	hsa-miR-3689a-3p	CLIP-seq
MIRT1322222	hsa-miR-3689c	CLIP-seq
MIRT1322223	hsa-miR-3913-5p	CLIP-seq
MIRT1322224	hsa-miR-4252	CLIP-seq
MIRT1322225	hsa-miR-4302	CLIP-seq
MIRT1322226	hsa-miR-4421	CLIP-seq
MIRT1322227	hsa-miR-4433	CLIP-seq
MIRT1322228	hsa-miR-4445	CLIP-seq
MIRT1322229	hsa-miR-4483	CLIP-seq
MIRT1322230	hsa-miR-4487	CLIP-seq
MIRT1322231	hsa-miR-4499	CLIP-seq
MIRT1322232	hsa-miR-4513	CLIP-seq
MIRT1322233	hsa-miR-4540	CLIP-seq
MIRT1322234	hsa-miR-4676-5p	CLIP-seq
MIRT1322235	hsa-miR-4679	CLIP-seq
MIRT1322236	hsa-miR-4701-3p	CLIP-seq
MIRT1322237	hsa-miR-4725-5p	CLIP-seq
MIRT1322238	hsa-miR-4782-3p	CLIP-seq
MIRT1322239	hsa-miR-4793-3p	CLIP-seq
MIRT1322240	hsa-miR-504	CLIP-seq
MIRT1322241	hsa-miR-508-3p	CLIP-seq
MIRT1322242	hsa-miR-508-5p	CLIP-seq
MIRT1322243	hsa-miR-518a-5p	CLIP-seq
MIRT1322244	hsa-miR-527	CLIP-seq
MIRT1322245	hsa-miR-558	CLIP-seq
MIRT1322246	hsa-miR-575	CLIP-seq
MIRT1322247	hsa-miR-593	CLIP-seq
MIRT1322248	hsa-miR-642b	CLIP-seq
MIRT1322249	hsa-miR-661	CLIP-seq
MIRT1322250	hsa-miR-665	CLIP-seq
MIRT1322251	hsa-miR-766	CLIP-seq
MIRT1322252	hsa-miR-876-3p	CLIP-seq
MIRT1322207	hsa-miR-10a	CLIP-seq
MIRT1322208	hsa-miR-10b	CLIP-seq
MIRT1322219	hsa-miR-339-5p	CLIP-seq
MIRT1322226	hsa-miR-4421	CLIP-seq
MIRT1322233	hsa-miR-4540	CLIP-seq
MIRT1322237	hsa-miR-4725-5p	CLIP-seq
MIRT1322240	hsa-miR-504	CLIP-seq
MIRT1322247	hsa-miR-593	CLIP-seq
MIRT2095635	hsa-miR-628-3p	CLIP-seq
MIRT1322248	hsa-miR-642b	CLIP-seq
MIRT1322209	hsa-miR-1227	CLIP-seq
MIRT1322211	hsa-miR-1262	CLIP-seq
MIRT2320090	hsa-miR-1587	CLIP-seq
MIRT1322215	hsa-miR-219-5p	CLIP-seq
MIRT1322217	hsa-miR-3160-3p	CLIP-seq
MIRT1322218	hsa-miR-3165	CLIP-seq
MIRT1322224	hsa-miR-4252	CLIP-seq
MIRT1322227	hsa-miR-4433	CLIP-seq
MIRT2320091	hsa-miR-4437	CLIP-seq
MIRT1322228	hsa-miR-4445	CLIP-seq
MIRT1322230	hsa-miR-4487	CLIP-seq
MIRT1322233	hsa-miR-4540	CLIP-seq
MIRT2320092	hsa-miR-4674	CLIP-seq
MIRT1322235	hsa-miR-4679	CLIP-seq
MIRT1322236	hsa-miR-4701-3p	CLIP-seq
MIRT2320093	hsa-miR-4720-3p	CLIP-seq
MIRT1322238	hsa-miR-4782-3p	CLIP-seq
MIRT1322239	hsa-miR-4793-3p	CLIP-seq
MIRT1322241	hsa-miR-508-3p	CLIP-seq
MIRT1322242	hsa-miR-508-5p	CLIP-seq
MIRT2320094	hsa-miR-548g	CLIP-seq
MIRT1322245	hsa-miR-558	CLIP-seq
MIRT1322248	hsa-miR-642b	CLIP-seq
MIRT1322249	hsa-miR-661	CLIP-seq
MIRT1322250	hsa-miR-665	CLIP-seq
MIRT1322251	hsa-miR-766	CLIP-seq
MIRT1322207	hsa-miR-10a	CLIP-seq
MIRT1322208	hsa-miR-10b	CLIP-seq
MIRT2615916	hsa-miR-1323	CLIP-seq
MIRT1322219	hsa-miR-339-5p	CLIP-seq
MIRT2615917	hsa-miR-3613-3p	CLIP-seq
MIRT1322226	hsa-miR-4421	CLIP-seq
MIRT2615918	hsa-miR-4661-5p	CLIP-seq
MIRT2615919	hsa-miR-4684-5p	CLIP-seq
MIRT1322237	hsa-miR-4725-5p	CLIP-seq
MIRT1322240	hsa-miR-504	CLIP-seq
MIRT2615920	hsa-miR-548a-3p	CLIP-seq
MIRT2615921	hsa-miR-548ae	CLIP-seq
MIRT2615922	hsa-miR-548aj	CLIP-seq
MIRT2615923	hsa-miR-548am	CLIP-seq
MIRT2615924	hsa-miR-548c-3p	CLIP-seq
MIRT2615925	hsa-miR-548e	CLIP-seq
MIRT2615926	hsa-miR-548f	CLIP-seq
MIRT2320094	hsa-miR-548g	CLIP-seq
MIRT2615927	hsa-miR-548o	CLIP-seq
MIRT2615928	hsa-miR-548x	CLIP-seq
MIRT1322247	hsa-miR-593	CLIP-seq
MIRT1322207	hsa-miR-10a	CLIP-seq
MIRT1322208	hsa-miR-10b	CLIP-seq
MIRT1322219	hsa-miR-339-5p	CLIP-seq
MIRT2615917	hsa-miR-3613-3p	CLIP-seq
MIRT1322226	hsa-miR-4421	CLIP-seq
MIRT1322237	hsa-miR-4725-5p	CLIP-seq
MIRT1322240	hsa-miR-504	CLIP-seq
MIRT1322247	hsa-miR-593	CLIP-seq

Show/Hide all (17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005515	Function	Protein binding	IPI	29892012, 31515488, 32296183
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005741	Component	Mitochondrial outer membrane	IDA	26593267
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005759	Component	Mitochondrial matrix	IDA	37884807
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0006744	Process	Ubiquinone biosynthetic process	IDA	37884807
GO:0006744	Process	Ubiquinone biosynthetic process	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008753	Function	NADPH dehydrogenase (quinone) activity	IDA	37884807
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0050773	Process	Regulation of dendrite development	ISS

MIM	HGNC	e!Ensembl
610502	18647	ENSG00000130347

Q8WWV3

Protein name

NAD(P)H oxidoreductase RTN4IP1, mitochondrial (EC 1.6.5.-) (NOGO-interacting mitochondrial protein) (Reticulon-4-interacting protein 1)

Protein function

NAD(P)H oxidoreductase involved in the ubiquinone biosynthetic pathway (PubMed:37884807). Required for the O-methyltransferase activity of COQ3 (PubMed:37884807). Able to catalyze the oxidoreduction of 3-demethylubiquinone into 3-demethylubiquin

PDB

2VN8

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08240	ADH_N	71 → 168	Alcohol dehydrogenase GroES-like domain	Domain
PF13602	ADH_zinc_N_2	247 → 393		Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed in mitochondria-enriched tissues (PubMed:12067236). Found in heart, muscle, kidney, liver, brain and placenta (PubMed:12067236). {ECO:0000269|PubMed:12067236}.

Sequence

MEFLKTCVLRRNACTAVCFWRSKVVQKPSVRRISTTSPRSTVMPAWVIDKYGKNEVLRFT
QNMMMPIIHYPNEVIVKVHAASVNPIDVNMRSGYGATALNMKRDPLHVKIKGEEFPLTLG
RDVSGVVMECGLDVKYFKPGDEVWAAVPPWKQGTLSEFVVVSGNEVSHKPKSLTHTQAAS
LPYVALTAWSAINKVGGLNDKNCTGKRVLILGASGGVGTFAIQVMKAWDAHVTAVCSQDA
SELVRKLGADDVIDYKSGSVEEQLKSLKPFDFILDNVGGSTETWAPDFLKKWSGATYVTL
VTPFLLNMDRLGIADGMLQTGVTVGSKALKHFWKGVHYRWAFFMASGPCLDDIAELVDAG
KIRPVIEQTFPFSKVPEAFLKVERGHARGKTVINVV

Sequence length

396

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 (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Optic atrophy	Pathogenic	rs372054380	RCV004816354	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Optic atrophy 10 with or without ataxia, intellectual disability, and seizures	Likely pathogenic; Pathogenic	rs763048901, rs2114691078, rs2114677062, rs755175825, rs145695118, rs372054380, rs200457692, rs1582392486, rs772984484	RCV005361808 RCV001591869 RCV002248446 RCV002248447 RCV002248448 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RTN4IP1-related disorder	Likely pathogenic; Pathogenic	rs756747776	RCV003409999	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (28)

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.
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE ISOLATED OPTIC ATROPHY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE OPTIC ATROPHY	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chorea	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macrocephaly	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal dystrophy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short stature	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (33)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma, Oxyphilic	Adenocarcinoma	BEFREE	23393170		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	33037779, 36231115	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	36231115	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive isolated optic atrophy	Optic Atrophy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blindness	Blindness	Pubtator	33315831	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	29181510, 36231115	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30961553, 36140725	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	33315831	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Choreoathetosis Hypothyroidism And Neonatal Respiratory Distress	Choreoathetosis	Pubtator	33037779	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	29181510	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	33037779	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	29181510		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	33037779	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	33315831, 36231115	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	23393170		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23393170		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23393170		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus Pathologic	Nystagmus	Pubtator	33315831	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	BEFREE	29181510, 31077085		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Optic Atrophy	Optic atrophy	Pubtator	29181510, 33037779, 33315831, 36231115	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES	Optic Atrophy With Or Without Ataxia, Mental Retardation, And Seizures	UNIPROT_DG	26593267		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES	Optic Atrophy With Or Without Ataxia, Mental Retardation, And Seizures	GENOMICS_ENGLAND_DG	26593267, 28638143, 29181510		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES	Optic Atrophy With Or Without Ataxia, Mental Retardation, And Seizures	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES	Optic Atrophy With Or Without Ataxia, Mental Retardation, And Seizures	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic Neuropathy	Optic Neuropathy	BEFREE	28638143		★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	23393170		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	29181510, 33315831, 36231115	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	29181510	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	23393170	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	23393170		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	23393170		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	23393170	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	33315831	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

RTN4IP1 (reticulon 4 interacting protein 1)