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ATXN2L ataxin 2 like [ Homo sapiens (human) ]

Gene ID: 11273, updated on 8-May-2016
Official Symbol
ATXN2Lprovided by HGNC
Official Full Name
ataxin 2 likeprovided by HGNC
Primary source
HGNC:HGNC:31326
See related
Ensembl:ENSG00000168488 HPRD:06394; MIM:607931; Vega:OTTHUMG00000097038
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
A2D; A2LG; A2LP; A2RP
Summary
This gene encodes an ataxin type 2 related protein of unknown function. This protein is a member of the spinocerebellar ataxia (SCAs) family, which is associated with a complex group of neurodegenerative disorders. Several alternatively spliced transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Orthologs
Location:
16p11
Exon count:
23
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 16 NC_000016.10 (28823048..28837237)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (28834369..28848558)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379464 Neighboring gene nuclear pore complex interacting protein family member B9 Neighboring gene pro-apoptotic WT1 regulator pseudogene 2 Neighboring gene ribosomal protein S15a pseudogene 33 Neighboring gene uncharacterized LOC105371163 Neighboring gene microRNA 4721 Neighboring gene Tu translation elongation factor, mitochondrial

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
NHGRI GWA Catalog
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
NHGRI GWA Catalog
Common variants at five new loci associated with early-onset inflammatory bowel disease.
NHGRI GWA Catalog
GWAS of 126,559 individuals identifies genetic variants associated with educational attainment.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
Pr55(Gag) gag Cellular biotinylated ataxin 2-like protein is incorporated into HIV-1 Gag virus-like particles PubMed
gag Interaction of HIV-1 Gag with ataxin 2-like (ATXN2L) is identified in a series of six affinity purification/mass spectrometry screens PubMed

Go to the HIV-1, Human Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
poly(A) RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 
poly(A) RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
regulation of cytoplasmic mRNA processing body assembly IDA
Inferred from Direct Assay
more info
PubMed 
stress granule assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
 
cytoplasmic stress granule IDA
Inferred from Direct Assay
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
nuclear speck IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
ataxin-2-like protein
Names
ataxin 2 related protein
ataxin 2-like
ataxin-2 domain protein

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.

mRNA and Protein(s)

  1. NM_001308230.1NP_001295159.1  ataxin-2-like protein isoform G

    Status: REVIEWED

    Description
    Transcript Variant: This variant (G) uses alternate splice sites in the central coding region and in the terminal exon which results in a frameshift compared to variant A. The encoded isoform (G) is shorter and has a distinct C-terminus compared to isoform A.
    Source sequence(s)
    AF070605, BC144269, DA320741
    Consensus CDS
    CCDS76850.1
    UniProtKB/TrEMBL
    H3BUF6
    Conserved Domains (3) summary
    COG5180
    Location:209750
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam06741
    Location:264333
    LsmAD; LsmAD domain
    pfam14438
    Location:122191
    SM-ATX; Ataxin 2 SM domain
  2. NM_007245.3NP_009176.2  ataxin-2-like protein isoform A

    See identical proteins and their annotated locations for NP_009176.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (A) represents the longest transcript.
    Source sequence(s)
    AJ317970, AK289981, BC068012
    Consensus CDS
    CCDS10641.1
    UniProtKB/Swiss-Prot
    Q8WWM7
    Related
    ENSP00000338718, OTTHUMP00000122538, ENST00000336783, OTTHUMT00000214139
    Conserved Domains (3) summary
    COG5180
    Location:209744
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam06741
    Location:264333
    LsmAD; LsmAD domain
    pfam14438
    Location:122191
    SM-ATX; Ataxin 2 SM domain
  3. NM_017492.3NP_059867.3  ataxin-2-like protein isoform F

    See identical proteins and their annotated locations for NP_059867.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (F) lacks a segment of the 3' coding region and 3' UTR, compared to transcript variant A. The resulting protein (isoform F) has a shorter, distinct C-terminus, compared to isoform A.
    Source sequence(s)
    AK289981, BC068012, BC144269
    Consensus CDS
    CCDS58443.1
    UniProtKB/Swiss-Prot
    Q8WWM7
    Related
    ENSP00000454516, OTTHUMP00000254312, ENST00000570200, OTTHUMT00000432049
    Conserved Domains (3) summary
    COG5180
    Location:209744
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam06741
    Location:264333
    LsmAD; LsmAD domain
    pfam14438
    Location:122191
    SM-ATX; Ataxin 2 SM domain
  4. NM_145714.2NP_663760.1  ataxin-2-like protein isoform B

    See identical proteins and their annotated locations for NP_663760.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (B) lacks a segment of the 3' coding region and 3' UTR, compared to transcript variant A. The resulting protein (isoform B) has a shorter, distinct C-terminus, compared to isoform A.
    Source sequence(s)
    AK289981, BC068012, BC144269
    Consensus CDS
    CCDS32423.1
    UniProtKB/Swiss-Prot
    Q8WWM7
    Related
    ENSP00000315650, OTTHUMP00000254113, ENST00000325215, OTTHUMT00000431011
    Conserved Domains (3) summary
    COG5180
    Location:209744
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam06741
    Location:264333
    LsmAD; LsmAD domain
    pfam14438
    Location:122191
    SM-ATX; Ataxin 2 SM domain
  5. NM_148414.2NP_680780.1  ataxin-2-like protein isoform C

    See identical proteins and their annotated locations for NP_680780.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (C) lacks a segment of the 3' coding region and 3' UTR, compared to transcript variant A. The resulting protein (isoform C) has a longer, distinct C-terminus, compared to isoform A.
    Source sequence(s)
    AJ317972, AK289981, BC068012
    Consensus CDS
    CCDS10640.1
    UniProtKB/Swiss-Prot
    Q8WWM7
    Related
    ENSP00000378917, OTTHUMP00000122537, ENST00000395547, OTTHUMT00000214138
    Conserved Domains (3) summary
    COG5180
    Location:209744
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam06741
    Location:264333
    LsmAD; LsmAD domain
    pfam14438
    Location:122191
    SM-ATX; Ataxin 2 SM domain
  6. NM_148415.2NP_680781.1  ataxin-2-like protein isoform D

    See identical proteins and their annotated locations for NP_680781.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (D) lacks a segment of the 3' coding region and 3' UTR, compared to transcript variant A. The resulting protein (isoform D) has a shorter, distinct C-terminus, compared to isoform A.
    Source sequence(s)
    AK289981, BC068012
    Consensus CDS
    CCDS10639.1
    UniProtKB/Swiss-Prot
    Q8WWM7
    Related
    ENSP00000341459, OTTHUMP00000122536, ENST00000340394, OTTHUMT00000214137
    Conserved Domains (2) summary
    pfam06741
    Location:264333
    LsmAD; LsmAD domain
    pfam14438
    Location:122191
    SM-ATX; Ataxin 2 SM domain
  7. NM_148416.2NP_680782.1  ataxin-2-like protein isoform E

    See identical proteins and their annotated locations for NP_680782.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (E) lacks a segment of the 3' coding region and 3' UTR, compared to transcript variant A. The resulting protein (isoform E) has a distinct C-terminus, compared to isoform A.
    Source sequence(s)
    AK289981, BC068012
    Consensus CDS
    CCDS45451.1
    UniProtKB/Swiss-Prot
    Q8WWM7
    Related
    ENSP00000372133, OTTHUMP00000254114, ENST00000382686, OTTHUMT00000431012
    Conserved Domains (3) summary
    COG5180
    Location:209744
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam06741
    Location:264333
    LsmAD; LsmAD domain
    pfam14438
    Location:122191
    SM-ATX; Ataxin 2 SM domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p2 Primary Assembly

    Range
    28823048..28837237
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005255069.1XP_005255126.1  

    Conserved Domains (3) summary
    COG5180
    Location:209750
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam06741
    Location:264333
    LsmAD; LsmAD domain
    pfam14438
    Location:122191
    SM-ATX; Ataxin 2 SM domain
  2. XM_005255061.1XP_005255118.1  

    See identical proteins and their annotated locations for XP_005255118.1

    Conserved Domains (3) summary
    COG5180
    Location:209750
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam06741
    Location:264333
    LsmAD; LsmAD domain
    pfam14438
    Location:122191
    SM-ATX; Ataxin 2 SM domain
  3. XM_005255062.1XP_005255119.1  

    See identical proteins and their annotated locations for XP_005255119.1

    Conserved Domains (3) summary
    COG5180
    Location:209750
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam06741
    Location:264333
    LsmAD; LsmAD domain
    pfam14438
    Location:122191
    SM-ATX; Ataxin 2 SM domain
  4. XM_006721009.1XP_006721072.1  

    See identical proteins and their annotated locations for XP_006721072.1

    Conserved Domains (3) summary
    COG5180
    Location:209750
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam06741
    Location:264333
    LsmAD; LsmAD domain
    pfam14438
    Location:122191
    SM-ATX; Ataxin 2 SM domain
  5. XM_005255070.1XP_005255127.1  

    Conserved Domains (3) summary
    COG5180
    Location:209750
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam06741
    Location:264333
    LsmAD; LsmAD domain
    pfam14438
    Location:122191
    SM-ATX; Ataxin 2 SM domain
  6. XM_005255071.1XP_005255128.1  

    Conserved Domains (3) summary
    COG5180
    Location:209750
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam06741
    Location:264333
    LsmAD; LsmAD domain
    pfam14438
    Location:122191
    SM-ATX; Ataxin 2 SM domain
  7. XM_005255067.1XP_005255124.1  

    See identical proteins and their annotated locations for XP_005255124.1

    Conserved Domains (3) summary
    COG5180
    Location:209750
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam06741
    Location:264333
    LsmAD; LsmAD domain
    pfam14438
    Location:122191
    SM-ATX; Ataxin 2 SM domain
  8. XM_005255068.1XP_005255125.1  

    See identical proteins and their annotated locations for XP_005255125.1

    Conserved Domains (3) summary
    COG5180
    Location:209750
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam06741
    Location:264333
    LsmAD; LsmAD domain
    pfam14438
    Location:122191
    SM-ATX; Ataxin 2 SM domain
  9. XM_006721011.1XP_006721074.1  

    See identical proteins and their annotated locations for XP_006721074.1

    Conserved Domains (3) summary
    COG5180
    Location:209750
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam06741
    Location:264333
    LsmAD; LsmAD domain
    pfam14438
    Location:122191
    SM-ATX; Ataxin 2 SM domain
  10. XM_005255074.1XP_005255131.1  

    Conserved Domains (3) summary
    COG5180
    Location:209750
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam06741
    Location:264333
    LsmAD; LsmAD domain
    pfam14438
    Location:122191
    SM-ATX; Ataxin 2 SM domain
  11. XM_005255075.1XP_005255132.1  

    Conserved Domains (3) summary
    COG5180
    Location:209750
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam06741
    Location:264333
    LsmAD; LsmAD domain
    pfam14438
    Location:122191
    SM-ATX; Ataxin 2 SM domain
  12. XM_005255064.1XP_005255121.1  

    Conserved Domains (3) summary
    COG5180
    Location:209750
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam06741
    Location:264333
    LsmAD; LsmAD domain
    pfam14438
    Location:122191
    SM-ATX; Ataxin 2 SM domain
  13. XM_005255072.1XP_005255129.1  

    Related
    ENSP00000457613, OTTHUMP00000254311, ENST00000564304, OTTHUMT00000432048
    Conserved Domains (3) summary
    COG5180
    Location:209750
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam06741
    Location:264333
    LsmAD; LsmAD domain
    pfam14438
    Location:122191
    SM-ATX; Ataxin 2 SM domain
  14. XM_005255076.1XP_005255133.1  

    Conserved Domains (3) summary
    COG5180
    Location:209750
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam06741
    Location:264333
    LsmAD; LsmAD domain
    pfam14438
    Location:122191
    SM-ATX; Ataxin 2 SM domain
  15. XM_006721007.1XP_006721070.1  

    Conserved Domains (3) summary
    COG5180
    Location:209726
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam06741
    Location:264333
    LsmAD; LsmAD domain
    pfam14438
    Location:122191
    SM-ATX; Ataxin 2 SM domain
  16. XM_005255065.1XP_005255122.1  

    Conserved Domains (2) summary
    pfam06741
    Location:264333
    LsmAD; LsmAD domain
    pfam14438
    Location:122191
    SM-ATX; Ataxin 2 SM domain
  17. XM_005255066.1XP_005255123.1  

    See identical proteins and their annotated locations for XP_005255123.1

    UniProtKB/Swiss-Prot
    Q8WWM7
    Conserved Domains (3) summary
    COG5180
    Location:209744
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam06741
    Location:264333
    LsmAD; LsmAD domain
    pfam14438
    Location:122191
    SM-ATX; Ataxin 2 SM domain
  18. XM_006721008.1XP_006721071.1  

    Conserved Domains (3) summary
    COG5180
    Location:209720
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam06741
    Location:264333
    LsmAD; LsmAD domain
    pfam14438
    Location:122191
    SM-ATX; Ataxin 2 SM domain
  19. XM_005255063.2XP_005255120.1  

    See identical proteins and their annotated locations for XP_005255120.1

    Conserved Domains (3) summary
    COG5180
    Location:209750
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam06741
    Location:264333
    LsmAD; LsmAD domain
    pfam14438
    Location:122191
    SM-ATX; Ataxin 2 SM domain
  20. XM_011545720.1XP_011544022.1  

    See identical proteins and their annotated locations for XP_011544022.1

    Conserved Domains (3) summary
    COG5180
    Location:209750
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam06741
    Location:264333
    LsmAD; LsmAD domain
    pfam14438
    Location:122191
    SM-ATX; Ataxin 2 SM domain
  21. XM_006721013.2XP_006721076.1  

    See identical proteins and their annotated locations for XP_006721076.1

    Conserved Domains (3) summary
    COG5180
    Location:209750
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam06741
    Location:264333
    LsmAD; LsmAD domain
    pfam14438
    Location:122191
    SM-ATX; Ataxin 2 SM domain
  22. XM_006721010.2XP_006721073.1  

    See identical proteins and their annotated locations for XP_006721073.1

    Conserved Domains (3) summary
    COG5180
    Location:209750
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam06741
    Location:264333
    LsmAD; LsmAD domain
    pfam14438
    Location:122191
    SM-ATX; Ataxin 2 SM domain
  23. XM_006721012.2XP_006721075.1  

    See identical proteins and their annotated locations for XP_006721075.1

    Conserved Domains (3) summary
    COG5180
    Location:209750
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam06741
    Location:264333
    LsmAD; LsmAD domain
    pfam14438
    Location:122191
    SM-ATX; Ataxin 2 SM domain
  24. XM_011545719.1XP_011544021.1  

    See identical proteins and their annotated locations for XP_011544021.1

    Conserved Domains (3) summary
    COG5180
    Location:209750
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam06741
    Location:264333
    LsmAD; LsmAD domain
    pfam14438
    Location:122191
    SM-ATX; Ataxin 2 SM domain
  25. XM_011545721.1XP_011544023.1  

    See identical proteins and their annotated locations for XP_011544023.1

    Conserved Domains (3) summary
    COG5180
    Location:209750
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam06741
    Location:264333
    LsmAD; LsmAD domain
    pfam14438
    Location:122191
    SM-ATX; Ataxin 2 SM domain
  26. XM_005255077.1XP_005255134.1  

    Conserved Domains (3) summary
    COG5180
    Location:149690
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam06741
    Location:204273
    LsmAD; LsmAD domain
    pfam14438
    Location:62131
    SM-ATX; Ataxin 2 SM domain
  27. XM_011545722.1XP_011544024.1  

    Conserved Domains (3) summary
    COG5180
    Location:87628
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam06741
    Location:142211
    LsmAD; LsmAD domain
    pfam14438
    Location:169
    SM-ATX; Ataxin 2 SM domain

RNA

  1. XR_243256.1 RNA Sequence

    Related
    ENST00000563314

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 Alternate CHM1_1.1

    Range
    29846212..29860401
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)