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ATXN2L ataxin 2 like [ Homo sapiens (human) ]

Gene ID: 11273, updated on 11-Sep-2019

Summary

Official Symbol
ATXN2Lprovided by HGNC
Official Full Name
ataxin 2 likeprovided by HGNC
Primary source
HGNC:HGNC:31326
See related
Ensembl:ENSG00000168488 MIM:607931
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]
Expression
Broad expression in testis (RPKM 66.0), spleen (RPKM 26.9) and 25 other tissues See more
Orthologs

Genomic context

See ATXN2L in Genome Data Viewer
Location:
16p11.2
Exon count:
24
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 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 nuclear pore complex interacting protein family member B9 Neighboring gene uncharacterized LOC105379464 Neighboring gene pro-apoptotic WT1 regulator pseudogene 2 Neighboring gene ribosomal protein S15a pseudogene 33 Neighboring gene microRNA 4721 Neighboring gene Tu translation elongation factor, mitochondrial Neighboring gene SH2B adaptor protein 1 Neighboring gene Sharpr-MPRA regulatory region 4004

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 Functions

What's a GeneRIF?

Phenotypes

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

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
cadherin binding HDA PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
regulation of cytoplasmic mRNA processing body assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of cytoplasmic mRNA processing body assembly IDA
Inferred from Direct Assay
more info
PubMed 
stress granule assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
stress granule assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasmic stress granule IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasmic stress granule IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
membrane HDA PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
nuclear speck IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
ataxin-2-like protein
Names
ataxin 2 related protein
ataxin-2 domain 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.

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
    Related
    ENSP00000457613.1, ENST00000564304.5
    Conserved Domains (3) summary
    COG5180
    Location:209750
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam06741
    Location:264326
    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
    ENSP00000338718.4, ENST00000336783.8
    Conserved Domains (3) summary
    COG5180
    Location:209744
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam06741
    Location:264326
    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
    ENSP00000454516.1, ENST00000570200.5
    Conserved Domains (3) summary
    COG5180
    Location:209744
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam06741
    Location:264326
    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
    ENSP00000315650.6, ENST00000325215.10
    Conserved Domains (4) summary
    COG5180
    Location:209744
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam03153
    Location:757941
    TFIIA; Transcription factor IIA, alpha/beta subunit
    pfam06741
    Location:264326
    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
    ENSP00000378917.2, ENST00000395547.6
    Conserved Domains (3) summary
    COG5180
    Location:209744
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam06741
    Location:264326
    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
    ENSP00000341459.8, ENST00000340394.12
    Conserved Domains (2) summary
    pfam06741
    Location:264326
    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
    ENSP00000372133.4, ENST00000382686.8
    Conserved Domains (4) summary
    COG5180
    Location:209744
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam03153
    Location:757941
    TFIIA; Transcription factor IIA, alpha/beta subunit
    pfam06741
    Location:264326
    LsmAD; LsmAD domain
    pfam14438
    Location:122191
    SM-ATX; Ataxin 2 SM domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005255069.1XP_005255126.1  ataxin-2-like protein isoform X6

    Conserved Domains (4) summary
    COG5180
    Location:209750
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam03153
    Location:763948
    TFIIA; Transcription factor IIA, alpha/beta subunit
    pfam06741
    Location:264326
    LsmAD; LsmAD domain
    pfam14438
    Location:122191
    SM-ATX; Ataxin 2 SM domain
  2. XM_005255061.1XP_005255118.1  ataxin-2-like protein isoform X1

    See identical proteins and their annotated locations for XP_005255118.1

    Conserved Domains (4) summary
    COG5180
    Location:209750
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam03153
    Location:763948
    TFIIA; Transcription factor IIA, alpha/beta subunit
    pfam06741
    Location:264326
    LsmAD; LsmAD domain
    pfam14438
    Location:122191
    SM-ATX; Ataxin 2 SM domain
  3. XM_011545719.2XP_011544021.1  ataxin-2-like protein isoform X1

    See identical proteins and their annotated locations for XP_011544021.1

    Conserved Domains (4) summary
    COG5180
    Location:209750
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam03153
    Location:763948
    TFIIA; Transcription factor IIA, alpha/beta subunit
    pfam06741
    Location:264326
    LsmAD; LsmAD domain
    pfam14438
    Location:122191
    SM-ATX; Ataxin 2 SM domain
  4. XM_005255062.1XP_005255119.1  ataxin-2-like protein isoform X1

    See identical proteins and their annotated locations for XP_005255119.1

    Conserved Domains (4) summary
    COG5180
    Location:209750
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam03153
    Location:763948
    TFIIA; Transcription factor IIA, alpha/beta subunit
    pfam06741
    Location:264326
    LsmAD; LsmAD domain
    pfam14438
    Location:122191
    SM-ATX; Ataxin 2 SM domain
  5. XM_006721009.1XP_006721072.1  ataxin-2-like protein isoform X11

    See identical proteins and their annotated locations for XP_006721072.1

    Conserved Domains (4) summary
    COG5180
    Location:209750
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam03153
    Location:763948
    TFIIA; Transcription factor IIA, alpha/beta subunit
    pfam06741
    Location:264326
    LsmAD; LsmAD domain
    pfam14438
    Location:122191
    SM-ATX; Ataxin 2 SM domain
  6. XM_005255070.1XP_005255127.1  ataxin-2-like protein isoform X9

    Conserved Domains (4) summary
    COG5180
    Location:209750
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam03153
    Location:763948
    TFIIA; Transcription factor IIA, alpha/beta subunit
    pfam06741
    Location:264326
    LsmAD; LsmAD domain
    pfam14438
    Location:122191
    SM-ATX; Ataxin 2 SM domain
  7. XM_005255071.1XP_005255128.1  ataxin-2-like protein isoform X10

    Conserved Domains (4) summary
    COG5180
    Location:209750
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam03153
    Location:763948
    TFIIA; Transcription factor IIA, alpha/beta subunit
    pfam06741
    Location:264326
    LsmAD; LsmAD domain
    pfam14438
    Location:122191
    SM-ATX; Ataxin 2 SM domain
  8. XM_005255067.1XP_005255124.1  ataxin-2-like protein isoform X5

    See identical proteins and their annotated locations for XP_005255124.1

    Conserved Domains (4) summary
    COG5180
    Location:209750
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam03153
    Location:763948
    TFIIA; Transcription factor IIA, alpha/beta subunit
    pfam06741
    Location:264326
    LsmAD; LsmAD domain
    pfam14438
    Location:122191
    SM-ATX; Ataxin 2 SM domain
  9. XM_005255068.1XP_005255125.1  ataxin-2-like protein isoform X5

    See identical proteins and their annotated locations for XP_005255125.1

    Conserved Domains (4) summary
    COG5180
    Location:209750
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam03153
    Location:763948
    TFIIA; Transcription factor IIA, alpha/beta subunit
    pfam06741
    Location:264326
    LsmAD; LsmAD domain
    pfam14438
    Location:122191
    SM-ATX; Ataxin 2 SM domain
  10. XM_006721011.1XP_006721074.1  ataxin-2-like protein isoform X15

    See identical proteins and their annotated locations for XP_006721074.1

    Conserved Domains (4) summary
    COG5180
    Location:209750
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam03153
    Location:763948
    TFIIA; Transcription factor IIA, alpha/beta subunit
    pfam06741
    Location:264326
    LsmAD; LsmAD domain
    pfam14438
    Location:122191
    SM-ATX; Ataxin 2 SM domain
  11. XM_006721012.4XP_006721075.1  ataxin-2-like protein isoform X15

    See identical proteins and their annotated locations for XP_006721075.1

    Conserved Domains (4) summary
    COG5180
    Location:209750
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam03153
    Location:763948
    TFIIA; Transcription factor IIA, alpha/beta subunit
    pfam06741
    Location:264326
    LsmAD; LsmAD domain
    pfam14438
    Location:122191
    SM-ATX; Ataxin 2 SM domain
  12. XM_005255074.1XP_005255131.1  ataxin-2-like protein isoform X12

    Conserved Domains (4) summary
    COG5180
    Location:209750
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam03153
    Location:763948
    TFIIA; Transcription factor IIA, alpha/beta subunit
    pfam06741
    Location:264326
    LsmAD; LsmAD domain
    pfam14438
    Location:122191
    SM-ATX; Ataxin 2 SM domain
  13. XM_005255075.1XP_005255132.1  ataxin-2-like protein isoform X13

    Conserved Domains (4) summary
    COG5180
    Location:209750
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam03153
    Location:763948
    TFIIA; Transcription factor IIA, alpha/beta subunit
    pfam06741
    Location:264326
    LsmAD; LsmAD domain
    pfam14438
    Location:122191
    SM-ATX; Ataxin 2 SM domain
  14. XM_005255064.1XP_005255121.1  ataxin-2-like protein isoform X2

    Conserved Domains (3) summary
    COG5180
    Location:209750
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam06741
    Location:264326
    LsmAD; LsmAD domain
    pfam14438
    Location:122191
    SM-ATX; Ataxin 2 SM domain
  15. XM_005255076.1XP_005255133.1  ataxin-2-like protein isoform X14

    Conserved Domains (4) summary
    COG5180
    Location:209750
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam03153
    Location:763947
    TFIIA; Transcription factor IIA, alpha/beta subunit
    pfam06741
    Location:264326
    LsmAD; LsmAD domain
    pfam14438
    Location:122191
    SM-ATX; Ataxin 2 SM domain
  16. XM_006721007.1XP_006721070.1  ataxin-2-like protein isoform X7

    Conserved Domains (4) summary
    COG5180
    Location:209726
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam03153
    Location:739924
    TFIIA; Transcription factor IIA, alpha/beta subunit
    pfam06741
    Location:264326
    LsmAD; LsmAD domain
    pfam14438
    Location:122191
    SM-ATX; Ataxin 2 SM domain
  17. XM_005255065.1XP_005255122.1  ataxin-2-like protein isoform X3

    Conserved Domains (3) summary
    pfam03153
    Location:8761068
    TFIIA; Transcription factor IIA, alpha/beta subunit
    pfam06741
    Location:264326
    LsmAD; LsmAD domain
    pfam14438
    Location:122191
    SM-ATX; Ataxin 2 SM domain
  18. XM_005255066.1XP_005255123.1  ataxin-2-like protein isoform X4

    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:264326
    LsmAD; LsmAD domain
    pfam14438
    Location:122191
    SM-ATX; Ataxin 2 SM domain
  19. XM_006721008.1XP_006721071.1  ataxin-2-like protein isoform X8

    Conserved Domains (4) summary
    COG5180
    Location:209720
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam03153
    Location:733918
    TFIIA; Transcription factor IIA, alpha/beta subunit
    pfam06741
    Location:264326
    LsmAD; LsmAD domain
    pfam14438
    Location:122191
    SM-ATX; Ataxin 2 SM domain
  20. XM_006721010.2XP_006721073.1  ataxin-2-like protein isoform X11

    See identical proteins and their annotated locations for XP_006721073.1

    Conserved Domains (4) summary
    COG5180
    Location:209750
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam03153
    Location:763948
    TFIIA; Transcription factor IIA, alpha/beta subunit
    pfam06741
    Location:264326
    LsmAD; LsmAD domain
    pfam14438
    Location:122191
    SM-ATX; Ataxin 2 SM domain
  21. XM_005255063.4XP_005255120.1  ataxin-2-like protein isoform X1

    See identical proteins and their annotated locations for XP_005255120.1

    Conserved Domains (4) summary
    COG5180
    Location:209750
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam03153
    Location:763948
    TFIIA; Transcription factor IIA, alpha/beta subunit
    pfam06741
    Location:264326
    LsmAD; LsmAD domain
    pfam14438
    Location:122191
    SM-ATX; Ataxin 2 SM domain
  22. XM_005255077.1XP_005255134.1  ataxin-2-like protein isoform X16

    Conserved Domains (4) summary
    COG5180
    Location:149690
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam03153
    Location:703888
    TFIIA; Transcription factor IIA, alpha/beta subunit
    pfam06741
    Location:204266
    LsmAD; LsmAD domain
    pfam14438
    Location:62131
    SM-ATX; Ataxin 2 SM domain
  23. XM_017022891.1XP_016878380.1  ataxin-2-like protein isoform X17

  24. XM_011545722.1XP_011544024.1  ataxin-2-like protein isoform X18

    Conserved Domains (4) summary
    COG5180
    Location:87628
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    pfam03153
    Location:641826
    TFIIA; Transcription factor IIA, alpha/beta subunit
    pfam06741
    Location:142204
    LsmAD; LsmAD domain
    pfam14438
    Location:169
    SM-ATX; Ataxin 2 SM domain
  25. XM_017022892.1XP_016878381.1  ataxin-2-like protein isoform X19

RNA

  1. XR_001751820.1 RNA Sequence

    Related
    ENST00000563314.5
  2. XR_243256.1 RNA Sequence

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