SPG20

GENERAL INFORMATION

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Gene name

SPG20

Gene description

Spastic paraplegia 20 (Troyer syndrome)

Protein class

Disease related genes
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

4
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Most normal tissues showed moderate cytoplasmic staining. Cells in molecular layer of cerebellum, endometrial glands, trophoblastic cells and rectum displayed strong cytoplasmic positivity while fallopian tube exhibited additional membranous immunoreactivity. The liver, pancreas, parathyroid, spleen and glial cells were weakly stained or negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA039053
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Skin



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

SPG20 (HGNC Symbol)

Synonyms

KIAA0610, TAHCCP1

Description

Spastic paraplegia 20 (Troyer syndrome) (HGNC Symbol)

Entrez gene summary

This gene encodes a protein containing a MIT (Microtubule Interacting and Trafficking molecule) domain, and is implicated in regulating endosomal trafficking and mitochondria function. The protein localizes to mitochondria and partially co-localizes with microtubules. Stimulation with epidermal growth factor (EGF) results in protein translocation to the plasma membrane, and the protein functions in the degradation and intracellular trafficking of EGF receptor. Multiple alternatively spliced variants, encoding the same protein, have been identified. Mutations associated with this gene cause autosomal recessive spastic paraplegia 20 (Troyer syndrome). [provided by RefSeq, Nov 2008]

Chromosome

13

Cytoband

q13.3

Chromosome location (bp)

36301638 - 36370180

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000133104 (version 78.38)

Entrez gene

23111

UniProt

Q8N0X7 (UniProt - Evidence at protein level)

neXtProt

NX_Q8N0X7

Antibodypedia

SPG20 antibodies


PROTEIN BROWSER

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ENST00000355182
 
ENST00000438666
 
ENST00000451493
 
ENST00000494062
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SPG20-002 ENSP00000406061
ENST00000438666
Q8N0X7
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Show » Show » 666 72.8 No 0
SPG20-010 ENSP00000473599
ENST00000494062
Q8N0X7
Show all »
Show » Show » 666 72.8 No 0
SPG20-201 ENSP00000347314
ENST00000355182
Q8N0X7
Show all »
Show » Show » 666 72.8 No 0
SPG20-202 ENSP00000414147
ENST00000451493
Q8N0X7
Show all »
Show » Show » 666 72.8 No 0