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AFG3L2

GENERAL INFORMATION

Gene name

 AFG3L2

Gene description

 AFG3-like AAA ATPase 2

Protein class

 Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted membrane proteins

Predicted localization

 Membrane

Number of transcripts

 2
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Ubiquitous cytoplasmic expression, often with a granular pattern.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Supported based on 2 antibodies.
HPA004479 , HPA004480
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 AFG3L2 (HGNC Symbol)

Synonyms

 SCA28, SPAX5

Description

 AFG3-like AAA ATPase 2 (HGNC Symbol)

Entrez gene summary

 This gene encodes a protein localized in mitochondria and closely related to paraplegin. The paraplegin gene is responsible for an autosomal recessive form of hereditary spastic paraplegia. This gene is a candidate gene for other hereditary spastic paraplegias or neurodegenerative disorders. [provided by RefSeq, Jul 2008]

Chromosome

 18

Cytoband

 p11.21

Chromosome location (bp)

 12328944 - 12377314

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000141385 (version 83.38)

Entrez gene

 10939

UniProt

 Q9Y4W6 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9Y4W6

Antibodypedia

 AFG3L2 antibodies

PROTEIN BROWSER
AFG3L2-001
AFG3L2-002

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
AFG3L2-001
ENSP00000269143
ENST00000269143
Q9Y4W6 [Direct mapping]
AFG3-like protein 2
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Enzymes
   Peptidases
   Metallopeptidases
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   2TM proteins predicted by MDM
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004222 [metalloendopeptidase activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005739 [mitochondrion]
GO:0005743 [mitochondrial inner membrane]
GO:0006508 [proteolysis]
GO:0007005 [mitochondrion organization]
GO:0007409 [axonogenesis]
GO:0007528 [neuromuscular junction development]
GO:0008053 [mitochondrial fusion]
GO:0008270 [zinc ion binding]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0021675 [nerve development]
GO:0034982 [mitochondrial protein processing]
GO:0040014 [regulation of multicellular organism growth]
GO:0042407 [cristae formation]
GO:0042552 [myelination]
GO:0048747 [muscle fiber development]
GO:0051082 [unfolded protein binding]
GO:0060013 [righting reflex]
Show all
 797 aa
88.6 kDa 		No 2
AFG3L2-002
ENSP00000467236
ENST00000590811
K7EP56 [Direct mapping]
AFG3-like protein 2
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Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   2TM proteins predicted by MDM
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004222 [metalloendopeptidase activity]
GO:0005524 [ATP binding]
GO:0006508 [proteolysis]
GO:0008270 [zinc ion binding]
GO:0016021 [integral component of membrane]
Show all
 209 aa
23.5 kDa 		No 2

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.