ROGDI - rogdi atypical leucine zipper Gene

Homo sapiens

Also known as KTZS; RAV2; ROGD1

Gene ID: 79641 | Gene type: protein coding

About ROGDI

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:4,796,968-4,802,633 (from NCBI)

This gene has 16 transcripts (splice variants), 193 orthologues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 26.0), bone marrow (RPKM 23.4) and 25 other tissues.

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]

ROGDI Products(1)

mRNA	Protein	Name
NM_024589.3	NP_078865.1	protein rogdi homolog

ROGDI Protein Structure

Rogdi_lz

0
100
200
287 a.a.

Protein Preferred Names

Protein Names

protein rogdi homolog

leucine zipper domain protein

Related Diseases

Diseases

Alias

Kohlschutter-Tonz Syndrome

Amelocerebrohypohidrotic Syndrome	KTZS
Epilepsy And Yellow Teeth	Kohlschutter Tonz Syndrome
Kohlschutter Syndrome	Epilepsy Dementia Amelogenesis Imperfecta
Epilepsy-Dementia-Amelogenesis Imperfecta Syndrome	Epilepsy, Dementia, And Amelogenesis Imperfecta
Kohlschutter'S Syndrome	Kohlschütter-Tönz Syndrome
Kohlschuetter-Toenz Syndrome	Presenile Dementia
Dementia

Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2

SEMDJL2	Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations, Hall Type	Spondyloepimetaphyseal Dysplasia With Joint Laxity Type 2
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations Hall Type	Spondyloepimetaphyseal Dysplasia With Joint Laxity, Hall Type
Semd-Md	Spondyloepimetaphyseal Dysplasia With Joint Laxicity, Hall Type
Spondyloepimetaphyseal Dysplasia With Joint Laxity, 2	Lepto-Semdjl
Spondyloepimetaphyseal Dysplasia With Joint Laxity Hall Type	Spondyloepimetaphyseal Dysplasia With Joint Laxity Leptodactylic Type
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations

Complex Partial Epilepsy

Epilepsy, Complex Partial	Complex Partial Epileptic Seizure
Epilepsy, Psychomotor	Psychomotor Epilepsy

Immunodeficiency 9

Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry Defect 1	Combined Immunodeficiency Due To Orai1 Deficiency
IMD9	Cid Due To Orai1 Deficiency
Severe Combined Immunodeficiency Due To Crac Channel Dysfunction	Immunodeficiency, Type 9

Developmental And Epileptic Encephalopathy 25

Developmental And Epileptic Encephalopathy, 25	Dee25
Developmental And Epileptic Encephalopathy 25, With Amelogenesis Imperfecta	Early Infantile Epileptic Encephalopathy 25
Encephalopathy, Epileptic, Early Infantile, Type 25

Heimler Syndrome 1

Deafness Enamel Hypoplasia Nail Defects	Heimler Syndrome
HMLR1	Hearing Loss, Sensorineural, With Enamel Hypoplasia And Nail Defects
Peroxisome Biogenesis Disorder 1c	Pbd1c
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Sensorineural Hearing Loss, Enamel Hypoplasia, And Nail Abnormalities
Peroxisomal Biogenesis Disorder 1c	Bilateral Sensorineural Hearing Loss, Enamel Hypoplasia And Nail Defects
Hearing Loss-Enamel Hypoplasia-Nail Defects Syndrome	Heimler, Syndrome
Heimler Syndrome, Type 1

Amelogenesis Imperfecta, Hypomaturation Type, Iia5

Amelogenesis Imperfecta Hypomaturation Type 2a5	AI2A5
Amelogenesis Imperfecta, Type Iia5	Amelogenesis Imperfecta Hypomaturation Type Iia5
Amelogenesis Imperfecta Type Iia5	Amelogenesis Imperfecta, Hypomaturation Type, 2a5

Amelogenesis Imperfecta

Ai	Congenital Enamel Hypoplasia
Al - [Amelogenesis Imperfecta]

Osteogenesis Imperfecta, Type V

Osteogenesis Imperfecta Type 5	OI5
Osteogenesis Imperfecta Type V	Oi Type 5
Oi Type V	Oi, Type V
Oi With Calcification In Interosseous Membranes	Type V Oi
Osteogenesis Imperfecta 5	Oi-V

Spondyloepimetaphyseal Dysplasia With Joint Laxity

Dysplasia, Spondyloepimetaphyseal, With Joint Laxity	Semdjl
Spondyloepimetaphyseal Dysplasia Joint Laxity	Semd-Jl
Semdjl1	Spondyloepimetaphyseal Dysplasia With Joint Laxity Type 1
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Beighton Type

Alacrima, Achalasia, And Mental Retardation Syndrome

AAMR	Alacrima, Achalasia, And Intellectual Disability Syndrome
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Intellectual Disability

Immunodeficiency 10

Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry Defect 2	Combined Immunodeficiency Due To Stim1 Deficiency
IMD10	Stim1 Deficiency
Cid Due To Stim1 Deficiency	Immune Dysfunction, With T-Cell Inactivation Due To Calcium Entry Defect 2
Immunodeficiency, Type 10

T Cell And Nk Cell Immunodeficiency

Teeth Hard Tissue Disease

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression	Early Infantile Epileptic Encephalopathy With Suppression Bursts
Eiee	Early Infantile Epileptic Encephalopathy With Suppression-Bursts
Ohtahara Syndrome	Encephalopathy, Epileptic, Early Infantile

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12120	ROGDI Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	ROGDI	VGNC	VGNC:45689
Bos taurus	ROGDI	VGNC	VGNC:34083
Felis catus	ROGDI	VGNC	VGNC:64716
Rattus norvegicus	ROGDI	RGD	RGD:1560021
Mus musculus	ROGDI	MGD	MGI:1913299
Macaca mulatta	ROGDI	VGNC	VGNC:76862

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