TRIM8 - tripartite motif containing 8 Gene

Homo sapiens

Also known as GERP; RNF27; FSGSNEDS

Gene ID: 81603 | Gene type: protein coding

About TRIM8

Cytogenetic location: 10q24.32 Genomic coordinates (GRCh38): 10:102,644,479-102,658,319 (from NCBI)

This gene has 15 transcripts (splice variants), 265 orthologues, 80 paralogues and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 42.3), fat (RPKM 41.8) and 25 other tissues.

Summary

This gene encodes a member of the tripartite motif (TRIM) protein family. Based on similarities to other proteins, the encoded protein is suspected to be an E3 ubiquitin-protein ligase. Regulation of this gene may be altered in some cancers. Mutations resulting in a truncated protein product have been observed in early-onset epileptic encephalopathy (EOEE). [provided by RefSeq, Sep 2016]

TRIM8 Products(2)

mRNA	Protein	Name
NM_001345950.1	NP_001332879.1	E3 ubiquitin-protein ligase TRIM8 isoform 2
NM_030912.3	NP_112174.2	E3 ubiquitin-protein ligase TRIM8 isoform 1

TRIM8 Protein Structure

zf-C3HC4_4

0
100
200
300
400
500
551 a.a.

Protein Preferred Names

Protein Names

E3 ubiquitin-protein ligase TRIM8

RING-type E3 ubiquitin transferase TRIM8

Related Diseases

Diseases

Alias

Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome

FSGSNEDS

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

Focal Segmental Glomerulosclerosis

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome	Focal Glomerulosclerosis
Fsgs	Segmental Glomerulosclerosis
Glomerulosclerosis, Focal Segmental	Fgs
Focal Glomerular Sclerosis	Familial Idiopathic Nephrotic Syndrome
Focal Sclerosis With Hyalinosis	Glomerulosclerosis, Focal
Glomerulosclerosis Focal	Glomerulosclerosis, Segmental, Focal
Focal Segmental Glomerulosclerosis, Not Otherwise Specified

Developmental And Epileptic Encephalopathy 94

Epileptic Encephalopathy, Childhood-Onset	Eeoc
DEE94	Childhood Onset Epileptic Encephalopathy
Encephalopathy, Epileptic, Childhood-Onset

Myoclonic Epilepsy, Juvenile 4

EJM4	Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Myoclonic Epilepsy, Juvenile, 4	Juvenile Myoclonic Epilepsy 4

Retinitis Pigmentosa 77

RP77	Retinitis Pigmentosa, Type 77

Autosomal Recessive Nonsyndromic Deafness 32

Deafness, Autosomal Recessive 32	Autosomal Recessive Deafness 105
Autosomal Recessive Deafness 32	Dfnb32
Hearing Impairment Infertile Male Syndrome	Hiims
Deafness, Autosomal Recessive, Type 32

Geleophysic Dysplasia 2

GPHYSD2	Geleophysic Dwarfism
Dysplasia, Geleophysic, Type 2	Geleophysic Dysplasia

Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency

Congenital Myasthenic Syndrome 11	CMS11
Cms Ie	Cms1e
Myasthenic Syndrome, Congenital, Ie	Myasthenic Syndrome, Congenital, Ie, Formerly
Cms1e, Formerly	Cms Ie, Formerly
Congenital Myasthenic Syndrome 11 Associated With Acetylcholine Receptor Deficiency	Congenital Myasthenic Syndrome 1e
Myasthenic Syndrome, Congenital, Type 11, Associated With Acetylcholine Receptor Deficiency

Alternating Esotropia

Pontocerebellar Hypoplasia, Type 2d

Pontocerebellar Hypoplasia Type 2d	Pcca
PCH2D	Progressive Cerebello-Cerebral Atrophy
Cerebellocerebral Atrophy, Progressive	Pontocerebellar Hypoplasia 2d
Progressive Cerebellocerebral Atrophy	Hypoplasia, Pontocerebellar, Type 2d

Lethal Congenital Contracture Syndrome 4

LCCS4

Contracture Syndrome, Lethal, Congenital, Type 4

Sweeney-Cox Syndrome

SWCOS

Larsen-Like Syndrome B3gat3 Type

Larsen-Like Syndrome, B3gat3 Type	Multiple Joint Dislocations-Short Stature-Craniofacial Dysmorphism-Congenital Heart Defects Syndrome
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Congenital Heart Defects	Joint Dislocations, Multiple, Short Stature, Craniofacial Dysmorphism, Congenital Heart Defects

Glioblastoma

Glioblastoma Multiforme	Gbm
Adult Glioblastoma Multiforme	Grade Iv Adult Astrocytic Tumor
Primary Glioblastoma Multiforme	Spongioblastoma Multiforme
Adult Glioblastoma	Primary Glioblastoma

Deafness, Autosomal Recessive 110

DFNB110	Autosomal Recessive Nonsyndromic Deafness 110
Autosomal Recessive Deafness 110	Deafness, Autosomal Recessive, 110

Esotropia

Convergence In Manifest Squint	Crossed Eyes
Internal Strabismus	Convergent Concomitant Strabismus
Convergent Squint	Convergent Strabismus
Cross-Eye

Ciliary Dyskinesia, Primary, 4

Primary Ciliary Dyskinesia 4	CILD4
Ciliary Dyskinesia, Primary, 4, With Or Without Situs Inversus	Primary Ciliary Dyskinesia 4 With Or Without Situs Inversus
Primary Ciliary Dyskinesia, 4

Ciliary Dyskinesia, Primary, 8

Primary Ciliary Dyskinesia 8	CILD8
Ciliary Dyskinesia, Primary, 8, With Or Without Situs Inversus	Primary Ciliary Dyskinesia 8 With Or Without Situs Inversus

Developmental And Epileptic Encephalopathy 11

Epileptic Encephalopathy, Early Infantile, 11	DEE11
Eiee11	Developmental And Epileptic Encephalopathy, 11
Early Infantile Epileptic Encephalopathy 11	Encephalopathy, Developmental And Epileptic, Type 11

Strabismus

Strabismus, Susceptibility To	Strabismus, Susceptibility To, 1
Strabismus 1

West Syndrome

Infantile Spasms	Infantile Spasms Syndrome
Infantile Spasm	X-Linked Infantile Spasm Syndrome
X-Linked Infantile Spasms	Epileptic Encephalopathy, Early Infantile, 1
Is	Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg
West'S Syndrome	Spasms, Infantile
Is -[Infantile Spasm]	Salaam Spasm
Salaam Tic

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia	Hereditary Spastic Paraparesis
Strumpell-Lorrain Disease	Familial Spastic Paraparesis
Hsp	Spg
Strümpell-Lorrain Disease	Spastic Paraplegia, Hereditary
French Settlement Disease	Strumpell-Lorrain Syndrome
Fsp	Spastic Paraplegia, Familial
Spastic Paraplegia Hereditary	Spastic Paraplegia 3, Autosomal Dominant
Spastic Paraparesis	Hereditary Spastic Paralysis
Familial Spastic Paralysis	Hereditary Spastic Ataxia

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

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-RS15072	TRIM8 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	TRIM8	VGNC	VGNC:47839
Bos taurus	TRIM8	VGNC	VGNC:36352
Mus musculus	TRIM8	MGD	MGI:1933302
Felis catus	TRIM8	VGNC	VGNC:66555
Macaca mulatta	TRIM8	VGNC	VGNC:78979
Rattus norvegicus	TRIM8	RGD	RGD:1585223

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