1. Gene
  2. ROGDI - rogdi atypical leucine zipper Gene

ROGDI - rogdi atypical leucine zipper Gene

中文名称:罗格迪非典型亮氨酸拉链

种属: Homo sapiens

同用名: KTZS; RAV2; ROGD1

基因 ID: 79641 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一种功能未知的蛋白质。该基因的功能缺失突变会导致 Kohlschutter-Tonz 综合征。交替剪接导致多个转录本变体。[RefSeq 提供,2012 年 3 月]

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 基因产物(1)

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

ROGDI 蛋白结构

Rogdi_lz

Rogdi_lz: Rogdi leucine zipper containing protein (18 - 277)

  • 0
  • 100
  • 200
  • 287 a.a.
蛋白主名 其他名称

protein rogdi homolog

leucine zipper domain protein

ROGDI 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
ROGDI Q9GZN7 CEP63 Homo sapiens Q96MT8-3 32296183
种属内
ROGDI Q9GZN7 CEP63 Homo sapiens Q96MT8-3 32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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