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	79641
Gene name	Rogdi atypical leucine zipper
Gene symbol	ROGDI
Synonyms (NCBI Gene)	KTZSRAV2ROGD1
Chromosome	16
Chromosome location	16p13.3
Summary	This gene encodes a protein of unknown function. Loss-of-function mutation in this gene cause Kohlschutter-Tonz syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]

Show/Hide all (16)

SNP ID	Visualize variation	Clinical significance	Consequence
rs138409264	C>T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Non coding transcript variant, coding sequence variant, missense variant
rs150687774	G>A	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, non coding transcript variant, synonymous variant
rs372097881	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs387907145	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs387907146	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs570952151	C>G,T	Pathogenic	Splice donor variant
rs749657986	C>A,G,T	Pathogenic	Intron variant
rs754417953	A>T	Likely-pathogenic	Splice donor variant
rs764899074	AG>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs786205119	T>A	Pathogenic	Splice acceptor variant
rs786205124	G>-,GGG	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs786205125	CCCCGCCG>-,CCCCGCCGCCCCGCCG	Pathogenic	Intron variant
rs1039568775	->C	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1060502981	T>C	Likely-pathogenic	Splice acceptor variant
rs1555491350	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1596277148	->GAAGGCG	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant

101

Show/Hide all (101)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029066	hsa-miR-26b-5p	Microarray	19088304
MIRT051133	hsa-miR-16-5p	CLASH	23622248
MIRT439749	hsa-miR-127-5p	HITS-CLIP	24374217
MIRT439749	hsa-miR-127-5p	HITS-CLIP	24374217
MIRT1315099	hsa-miR-3141	CLIP-seq
MIRT1315100	hsa-miR-383	CLIP-seq
MIRT1315101	hsa-miR-4257	CLIP-seq
MIRT1315102	hsa-miR-4772-5p	CLIP-seq
MIRT2093745	hsa-miR-1233	CLIP-seq
MIRT2093746	hsa-miR-3173-5p	CLIP-seq
MIRT2093747	hsa-miR-3680	CLIP-seq
MIRT2093748	hsa-miR-4283	CLIP-seq
MIRT2093749	hsa-miR-4419a	CLIP-seq
MIRT2093750	hsa-miR-4489	CLIP-seq
MIRT2093751	hsa-miR-4510	CLIP-seq
MIRT2093752	hsa-miR-4779	CLIP-seq
MIRT2093753	hsa-miR-4798-3p	CLIP-seq
MIRT2093754	hsa-miR-483-3p	CLIP-seq
MIRT2093755	hsa-miR-494	CLIP-seq
MIRT2093756	hsa-miR-760	CLIP-seq
MIRT2318152	hsa-miR-1258	CLIP-seq
MIRT2318153	hsa-miR-3120-5p	CLIP-seq
MIRT2318154	hsa-miR-3152-3p	CLIP-seq
MIRT2093754	hsa-miR-483-3p	CLIP-seq
MIRT2093756	hsa-miR-760	CLIP-seq
MIRT2318152	hsa-miR-1258	CLIP-seq
MIRT2613927	hsa-miR-130a	CLIP-seq
MIRT2613928	hsa-miR-130b	CLIP-seq
MIRT2613929	hsa-miR-1321	CLIP-seq
MIRT2613930	hsa-miR-145	CLIP-seq
MIRT2613931	hsa-miR-148a	CLIP-seq
MIRT2613932	hsa-miR-148b	CLIP-seq
MIRT2613933	hsa-miR-152	CLIP-seq
MIRT2613934	hsa-miR-15a	CLIP-seq
MIRT2613935	hsa-miR-15b	CLIP-seq
MIRT2613936	hsa-miR-16	CLIP-seq
MIRT2613937	hsa-miR-1825	CLIP-seq
MIRT2613938	hsa-miR-195	CLIP-seq
MIRT2613939	hsa-miR-199a-5p	CLIP-seq
MIRT2613940	hsa-miR-199b-5p	CLIP-seq
MIRT2613941	hsa-miR-19a	CLIP-seq
MIRT2613942	hsa-miR-19b	CLIP-seq
MIRT2613943	hsa-miR-301a	CLIP-seq
MIRT2613944	hsa-miR-301b	CLIP-seq
MIRT2613945	hsa-miR-3121-3p	CLIP-seq
MIRT2318154	hsa-miR-3152-3p	CLIP-seq
MIRT2613946	hsa-miR-3162-5p	CLIP-seq
MIRT2613947	hsa-miR-34a	CLIP-seq
MIRT2613948	hsa-miR-34c-5p	CLIP-seq
MIRT2613949	hsa-miR-3666	CLIP-seq
MIRT2613950	hsa-miR-424	CLIP-seq
MIRT2613951	hsa-miR-4278	CLIP-seq
MIRT2613952	hsa-miR-4295	CLIP-seq
MIRT2613953	hsa-miR-449a	CLIP-seq
MIRT2613954	hsa-miR-449b	CLIP-seq
MIRT2613955	hsa-miR-4524	CLIP-seq
MIRT2613956	hsa-miR-454	CLIP-seq
MIRT2613957	hsa-miR-4651	CLIP-seq
MIRT2613958	hsa-miR-4654	CLIP-seq
MIRT2613959	hsa-miR-4716-3p	CLIP-seq
MIRT2613960	hsa-miR-4739	CLIP-seq
MIRT2613961	hsa-miR-4756-5p	CLIP-seq
MIRT2613962	hsa-miR-4769-5p	CLIP-seq
MIRT2613963	hsa-miR-497	CLIP-seq
MIRT2613964	hsa-miR-503	CLIP-seq
MIRT2613965	hsa-miR-577	CLIP-seq
MIRT2613966	hsa-miR-608	CLIP-seq
MIRT2613967	hsa-miR-646	CLIP-seq
MIRT2318152	hsa-miR-1258	CLIP-seq
MIRT2613927	hsa-miR-130a	CLIP-seq
MIRT2613928	hsa-miR-130b	CLIP-seq
MIRT2613929	hsa-miR-1321	CLIP-seq
MIRT2613930	hsa-miR-145	CLIP-seq
MIRT2613931	hsa-miR-148a	CLIP-seq
MIRT2613932	hsa-miR-148b	CLIP-seq
MIRT2613933	hsa-miR-152	CLIP-seq
MIRT2613937	hsa-miR-1825	CLIP-seq
MIRT2613939	hsa-miR-199a-5p	CLIP-seq
MIRT2613940	hsa-miR-199b-5p	CLIP-seq
MIRT2613941	hsa-miR-19a	CLIP-seq
MIRT2613942	hsa-miR-19b	CLIP-seq
MIRT2613943	hsa-miR-301a	CLIP-seq
MIRT2613944	hsa-miR-301b	CLIP-seq
MIRT2318154	hsa-miR-3152-3p	CLIP-seq
MIRT2613946	hsa-miR-3162-5p	CLIP-seq
MIRT2613947	hsa-miR-34a	CLIP-seq
MIRT2613948	hsa-miR-34c-5p	CLIP-seq
MIRT2613949	hsa-miR-3666	CLIP-seq
MIRT2613951	hsa-miR-4278	CLIP-seq
MIRT2613952	hsa-miR-4295	CLIP-seq
MIRT2613953	hsa-miR-449a	CLIP-seq
MIRT2613954	hsa-miR-449b	CLIP-seq
MIRT2613956	hsa-miR-454	CLIP-seq
MIRT2613957	hsa-miR-4651	CLIP-seq
MIRT2613958	hsa-miR-4654	CLIP-seq
MIRT2613959	hsa-miR-4716-3p	CLIP-seq
MIRT2613960	hsa-miR-4739	CLIP-seq
MIRT2613961	hsa-miR-4756-5p	CLIP-seq
MIRT2613962	hsa-miR-4769-5p	CLIP-seq
MIRT2613965	hsa-miR-577	CLIP-seq
MIRT2613966	hsa-miR-608	CLIP-seq

Show/Hide all (35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IDA	22482807
GO:0005635	Component	Nuclear envelope	IEA
GO:0006885	Process	Regulation of pH	IEA
GO:0007420	Process	Brain development	IEA
GO:0007420	Process	Brain development	IMP	25565929
GO:0007613	Process	Memory	IEA
GO:0007626	Process	Locomotory behavior	IEA
GO:0008021	Component	Synaptic vesicle	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0010467	Process	Gene expression	IEA
GO:0022008	Process	Neurogenesis	IMP	22482807
GO:0030097	Process	Hemopoiesis	IEA
GO:0030282	Process	Bone mineralization	IEA
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0040011	Process	Locomotion	IEA
GO:0042475	Process	Odontogenesis of dentin-containing tooth	IMP	25565929
GO:0042995	Component	Cell projection	IEA
GO:0043204	Component	Perikaryon	IEA
GO:0043291	Component	RAVE complex	IBA
GO:0045202	Component	Synapse	IEA
GO:0045475	Process	Locomotor rhythm	IEA
GO:0045851	Process	PH reduction	IEA
GO:0048512	Process	Circadian behavior	IEA
GO:0050877	Process	Nervous system process	IEA
GO:0050905	Process	Neuromuscular process	IEA
GO:0070166	Process	Enamel mineralization	IEA
GO:0097186	Process	Amelogenesis	IEA
GO:0098686	Component	Hippocampal mossy fiber to CA3 synapse	IEA
GO:0098793	Component	Presynapse	IEA
GO:0098793	Component	Presynapse	IEA

MIM	HGNC	e!Ensembl
614574	29478	ENSG00000067836

Q9GZN7

Protein name

Protein rogdi homolog

PDB

5XQH , 5XQI

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10259	Rogdi_lz	18 → 276	Rogdi leucine zipper containing protein	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed with highest levels in spinal cord, brain, heart and bone marrow. Also expressed in fetal brain and liver. {ECO:0000269|PubMed:22482807}.

Sequence

MATVMAATAAERAVLEEEFRWLLHDEVHAVLKQLQDILKEASLRFTLPGSGTEGPAKQEN
FILGSCGTDQVKGVLTLQGDALSQADVNLKMPRNNQLLHFAFREDKQWKLQQIQDARNHV
SQAIYLLTSRDQSYQFKTGAEVLKLMDAVMLQLTRARNRLTTPATLTLPEIAASGLTRMF
APALPSDLLVNVYINLNKLCLTVYQLHALQPNSTKNFRPAGGAVLHSPGAMFEWGSQRLE
VSHVHKVECVIPWLNDALVYFTVSLQLCQQLKDKISVFSSYWSYRPF

Sequence length

287

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 (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Amelocerebrohypohidrotic syndrome	Pathogenic; Likely pathogenic	rs2141905980, rs919033318, rs2082742684, rs2141906388, rs780059442, rs2082712944, rs1221411185, rs774701696, rs754518299, rs2505727615, rs2082718424, rs2505715181, rs1060502981, rs2505724467, rs1567604012 View all (18 more)	RCV001385744 RCV001380958 RCV001931038 RCV002002391 RCV001960730 View all (31 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gastric cancer	Likely pathogenic	rs749657986	RCV005888666	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (13)

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.
AUTISM SPECTRUM DISORDER	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROGDI-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (30)

Disease Name	Disease (Merged)	Source	PMID	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Amelocerebrohypohidrotic syndrome	Amelocerebrohypohidrotic Syndrome	Orphanet		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Amelogenesis Imperfecta	Amelogenesis imperfecta	BEFREE	27600704	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amelogenesis Imperfecta	Amelogenesis imperfecta	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	CTD_human_DG	31209396	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental Enamel Hypoplasia	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2	Kyphoscoliotic Ehlers-Danlos Syndrome	BEFREE	25111118	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypohidrosis	Hypohidrosis	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	CLINVAR_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Klippel-Trenaunay-Weber Syndrome	Klippel-Trenaunay-Weber Syndrome	BEFREE	22424600, 23086778	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kohlschutter Tonz syndrome	Kohlschutter syndrome	BEFREE	22424600, 23086778, 25111118, 27600704	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kohlschutter Tonz syndrome	Kohlschutter syndrome	CLINVAR_DG	22424600, 23086778	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kohlschutter Tonz syndrome	Kohlschutter syndrome	ORPHANET_DG	22424600	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kohlschutter Tonz syndrome	Kohlschutter syndrome	GENOMICS_ENGLAND_DG	22424600, 28651123, 7625549	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kohlschutter Tonz syndrome	Kohlschutter syndrome	CTD_human_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	GWASCAT_DG	29299148	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	CLINVAR_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	CLINVAR_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	CLINVAR_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	CLINVAR_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	CLINVAR_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only

ROGDI (rogdi atypical leucine zipper)