Format

Send to:

Choose Destination

AFG3L2 AFG3 like matrix AAA peptidase subunit 2 [ Homo sapiens (human) ]

Gene ID: 10939, updated on 13-Feb-2019

Summary

Official Symbol
AFG3L2provided by HGNC
Official Full Name
AFG3 like matrix AAA peptidase subunit 2provided by HGNC
Primary source
HGNC:HGNC:315
See related
Ensembl:ENSG00000141385 MIM:604581
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SCA28; SPAX5
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]
Expression
Ubiquitous expression in duodenum (RPKM 38.9), heart (RPKM 35.3) and 25 other tissues See more
Orthologs

Genomic context

See AFG3L2 in Genome Data Viewer
Location:
18p11.21
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 18 NC_000018.10 (12328944..12377309, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (12328943..12377275, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs1751 Neighboring gene RNA, U6 small nuclear 170, pseudogene Neighboring gene tubulin beta 6 class V Neighboring gene uncharacterized LOC107985154 Neighboring gene RNA, U7 small nuclear 129 pseudogene Neighboring gene PRELI domain containing 3A

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of AFG3 ATPase family gene 3-like 2 (AFG3L2) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ25993

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
metalloendopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
metallopeptidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
unfolded protein binding TAS
Traceable Author Statement
more info
PubMed 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
axonogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
calcium import into the mitochondrion IMP
Inferred from Mutant Phenotype
more info
PubMed 
cristae formation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial calcium ion homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrial calcium ion transmembrane transport TAS
Traceable Author Statement
more info
 
mitochondrial fusion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial protein processing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
muscle fiber development IEA
Inferred from Electronic Annotation
more info
 
myelination IEA
Inferred from Electronic Annotation
more info
 
nerve development IEA
Inferred from Electronic Annotation
more info
 
neuromuscular junction development IEA
Inferred from Electronic Annotation
more info
 
protein autoprocessing ISS
Inferred from Sequence or Structural Similarity
more info
 
protein processing ISS
Inferred from Sequence or Structural Similarity
more info
 
proteolysis IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
righting reflex IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
m-AAA complex IEA
Inferred from Electronic Annotation
more info
 
mitochondrial inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial inner membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
AFG3-like protein 2
Names
AFG3 ATPase family gene 3-like 2
AFG3 ATPase family member 3-like 2
AFG3 like AAA ATPase 2
ATPase family gene 3, yeast
paraplegin-like protein

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_023361.1 RefSeqGene

    Range
    5001..53333
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_666

mRNA and Protein(s)

  1. NM_006796.2NP_006787.2  AFG3-like protein 2

    See identical proteins and their annotated locations for NP_006787.2

    Status: REVIEWED

    Source sequence(s)
    BC024282, BU786821, BX091241, DN993083
    Consensus CDS
    CCDS11859.1
    UniProtKB/Swiss-Prot
    Q9Y4W6
    UniProtKB/TrEMBL
    Q8TA92
    Related
    ENSP00000269143.2, ENST00000269143.7
    Conserved Domains (2) summary
    pfam06480
    Location:146242
    FtsH_ext; FtsH Extracellular
    cl27568
    Location:253746
    TIP49; TIP49 C-terminus

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p12 Primary Assembly

    Range
    12328944..12377309 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011525601.3XP_011523903.1  AFG3-like protein 2 isoform X1

    Conserved Domains (4) summary
    TIGR01241
    Location:253679
    FtsH_fam; ATP-dependent metalloprotease FtsH
    pfam00004
    Location:345476
    AAA; ATPase family associated with various cellular activities (AAA)
    pfam01434
    Location:562677
    Peptidase_M41; Peptidase family M41
    pfam06480
    Location:146242
    FtsH_ext; FtsH Extracellular
Support Center