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SPATS2L spermatogenesis associated serine rich 2 like [ Homo sapiens (human) ]

Gene ID: 26010, updated on 5-Jul-2020

Summary

Official Symbol
SPATS2Lprovided by HGNC
Official Full Name
spermatogenesis associated serine rich 2 likeprovided by HGNC
Primary source
HGNC:HGNC:24574
See related
Ensembl:ENSG00000196141 MIM:613817
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SGNP; DNAPTP6
Expression
Ubiquitous expression in gall bladder (RPKM 14.3), heart (RPKM 9.6) and 25 other tissues See more
Orthologs

Genomic context

See SPATS2L in Genome Data Viewer
Location:
2q33.1
Exon count:
21
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (200305879..200482264)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (201170604..201346986)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene tRNA-yW synthesizing protein 5 Neighboring gene matrix AAA peptidase interacting protein 1 Neighboring gene uncharacterized LOC105373833 Neighboring gene RNY4 pseudogene 34 Neighboring gene uncharacterized LOC107985786 Neighboring gene uncharacterized LOC101927741 Neighboring gene potassium channel tetramerization domain containing 18 Neighboring gene shugoshin 2

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
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
NHGRI GWA Catalog
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
NHGRI GWA Catalog
Genome-wide association analysis in asthma subjects identifies SPATS2L as a novel bronchodilator response gene.
NHGRI GWA Catalog
Genome-wide association study of exercise behavior in Dutch and American adults.
NHGRI GWA Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of discs, large (Drosophila) homolog-associated protein 1 (DLGAP1; LOC26010) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells 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

  • FLJ14138, DKFZp564A2416

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
protein-containing complex IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
SPATS2-like protein
Names
DNA polymerase-transactivated protein 6
stress granule and nucleolar 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_001100422.1NP_001093892.1  SPATS2-like protein isoform a

    See identical proteins and their annotated locations for NP_001093892.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has an alternate 5' UTR exon, compared to variant 1. Variants 1, 2, 3 and 5 encode the same isoform a.
    Source sequence(s)
    AC012459, AK002064, BC018736, BQ030316, CN480518, DB206952
    Consensus CDS
    CCDS46483.1
    UniProtKB/Swiss-Prot
    Q9NUQ6
    UniProtKB/TrEMBL
    A0A024R3V0
    Related
    ENSP00000386931.3, ENST00000409988.7
    Conserved Domains (1) summary
    pfam07139
    Location:59368
    DUF1387; Protein of unknown function (DUF1387)
  2. NM_001100423.2NP_001093893.1  SPATS2-like protein isoform a

    See identical proteins and their annotated locations for NP_001093893.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) has an alternate 5' UTR exon, compared to variant 1. Variants 1, 2, 3 and 5 encode the same isoform a.
    Source sequence(s)
    AC012459, AF193059, AL525852, BQ030316, DB454965
    Consensus CDS
    CCDS46483.1
    UniProtKB/Swiss-Prot
    Q9NUQ6
    UniProtKB/TrEMBL
    A0A024R3V0
    Related
    ENSP00000386730.3, ENST00000409140.8
    Conserved Domains (1) summary
    pfam07139
    Location:59368
    DUF1387; Protein of unknown function (DUF1387)
  3. NM_001100424.1NP_001093894.1  SPATS2-like protein isoform b

    See identical proteins and their annotated locations for NP_001093894.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) has an alternate 5' UTR exon and lacks an in-frame coding exon, compared to variant 1. The resulting isoform (b) lacks an internal segment, compared to isoform a.
    Source sequence(s)
    AC012459, BC010848, BQ030316, CN480518, DB206952
    Consensus CDS
    CCDS46484.1
    UniProtKB/Swiss-Prot
    Q9NUQ6
    Related
    ENSP00000353989.5, ENST00000360760.9
    Conserved Domains (1) summary
    pfam07139
    Location:59299
    DUF1387; Protein of unknown function (DUF1387)
  4. NM_001282735.1NP_001269664.1  SPATS2-like protein isoform a

    See identical proteins and their annotated locations for NP_001269664.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) has an alternate splice site in the 5' UTR, which results in a longer 5' UTR, compared to variant 1. Variants 1, 2, 3 and 5 encode the same isoform a.
    Source sequence(s)
    AC012459, AK290496, AL110124, BP310992, BQ030316
    Consensus CDS
    CCDS46483.1
    UniProtKB/Swiss-Prot
    Q9NUQ6
    UniProtKB/TrEMBL
    A0A024R3V0
    Related
    ENSP00000386336.1, ENST00000409718.5
    Conserved Domains (1) summary
    pfam07139
    Location:59368
    DUF1387; Protein of unknown function (DUF1387)
  5. NM_001282743.1NP_001269672.1  SPATS2-like protein isoform c

    See identical proteins and their annotated locations for NP_001269672.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) has an alternate splice site in the 5' UTR, lacks an internal exon which contains the translation start codon, and initiates translation at a downstream start codon, compared to variant 1. The resulting isoform (c) has a shorter N-terminus, compared to isoform a.
    Source sequence(s)
    AC012459, AF193059, AK090867, AK290496, BP310992, BQ030316
    Consensus CDS
    CCDS74622.1
    UniProtKB/Swiss-Prot
    Q9NUQ6
    UniProtKB/TrEMBL
    B8ZZZ7
    Related
    ENSP00000386391.1, ENST00000409385.5
    Conserved Domains (1) summary
    pfam07139
    Location:17308
    DUF1387; Protein of unknown function (DUF1387)
  6. NM_001282744.1NP_001269673.1  SPATS2-like protein isoform d

    See identical proteins and their annotated locations for NP_001269673.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) has an alternate 5' terminal exon which contains an upstream in-frame AUG codon, compared to variant 1. The resulting isoform (d) has a longer N-terminus, compared to isoform a.
    Source sequence(s)
    AC012459, AC074213, AK300075, BQ030316
    Consensus CDS
    CCDS74621.1
    UniProtKB/Swiss-Prot
    Q9NUQ6
    Related
    ENSP00000482515.1, ENST00000619961.4
    Conserved Domains (1) summary
    pfam07139
    Location:89397
    DUF1387; Protein of unknown function (DUF1387)
  7. NM_015535.3NP_056350.2  SPATS2-like protein isoform a

    See identical proteins and their annotated locations for NP_056350.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) and variants 2, 3 and 5 encode the same isoform (a).
    Source sequence(s)
    AC012459, AC074213, AY450394, BC018736, BP310992, BQ030316
    Consensus CDS
    CCDS46483.1
    UniProtKB/Swiss-Prot
    Q9NUQ6
    UniProtKB/TrEMBL
    A0A024R3V0
    Related
    ENSP00000351503.4, ENST00000358677.9
    Conserved Domains (1) summary
    pfam07139
    Location:59368
    DUF1387; Protein of unknown function (DUF1387)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    200305879..200482264
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024452788.1XP_024308556.1  SPATS2-like protein isoform X4

    Conserved Domains (1) summary
    pfam07139
    Location:59299
    DUF1387; Protein of unknown function (DUF1387)
  2. XM_011510939.1XP_011509241.1  SPATS2-like protein isoform X2

    See identical proteins and their annotated locations for XP_011509241.1

    UniProtKB/Swiss-Prot
    Q9NUQ6
    UniProtKB/TrEMBL
    A0A024R3V0
    Conserved Domains (1) summary
    pfam07139
    Location:59368
    DUF1387; Protein of unknown function (DUF1387)
  3. XM_005246457.1XP_005246514.1  SPATS2-like protein isoform X2

    See identical proteins and their annotated locations for XP_005246514.1

    UniProtKB/Swiss-Prot
    Q9NUQ6
    UniProtKB/TrEMBL
    A0A024R3V0
    Related
    ENSP00000391467.2, ENST00000451764.6
    Conserved Domains (1) summary
    pfam07139
    Location:59368
    DUF1387; Protein of unknown function (DUF1387)
  4. XM_017003787.1XP_016859276.1  SPATS2-like protein isoform X4

    UniProtKB/Swiss-Prot
    Q9NUQ6
    Conserved Domains (1) summary
    pfam07139
    Location:59299
    DUF1387; Protein of unknown function (DUF1387)
  5. XM_011510938.1XP_011509240.1  SPATS2-like protein isoform X1

    See identical proteins and their annotated locations for XP_011509240.1

    UniProtKB/Swiss-Prot
    Q9NUQ6
    Conserved Domains (1) summary
    pfam07139
    Location:89397
    DUF1387; Protein of unknown function (DUF1387)
  6. XM_005246456.1XP_005246513.1  SPATS2-like protein isoform X2

    See identical proteins and their annotated locations for XP_005246513.1

    UniProtKB/Swiss-Prot
    Q9NUQ6
    UniProtKB/TrEMBL
    A0A024R3V0
    Conserved Domains (1) summary
    pfam07139
    Location:59368
    DUF1387; Protein of unknown function (DUF1387)
  7. XM_017003786.1XP_016859275.1  SPATS2-like protein isoform X4

    UniProtKB/Swiss-Prot
    Q9NUQ6
    Conserved Domains (1) summary
    pfam07139
    Location:59299
    DUF1387; Protein of unknown function (DUF1387)
  8. XM_024452786.1XP_024308554.1  SPATS2-like protein isoform X2

    Conserved Domains (1) summary
    pfam07139
    Location:59368
    DUF1387; Protein of unknown function (DUF1387)
  9. XM_005246459.1XP_005246516.1  SPATS2-like protein isoform X4

    See identical proteins and their annotated locations for XP_005246516.1

    UniProtKB/Swiss-Prot
    Q9NUQ6
    Conserved Domains (1) summary
    pfam07139
    Location:59299
    DUF1387; Protein of unknown function (DUF1387)
  10. XM_024452785.1XP_024308553.1  SPATS2-like protein isoform X2

    Conserved Domains (1) summary
    pfam07139
    Location:59368
    DUF1387; Protein of unknown function (DUF1387)
  11. XM_017003784.2XP_016859273.1  SPATS2-like protein isoform X3

  12. XM_024452787.1XP_024308555.1  SPATS2-like protein isoform X2

    Related
    ENSP00000386310.1, ENST00000409151.5
    Conserved Domains (1) summary
    pfam07139
    Location:59368
    DUF1387; Protein of unknown function (DUF1387)
  13. XM_005246458.2XP_005246515.1  SPATS2-like protein isoform X2

    See identical proteins and their annotated locations for XP_005246515.1

    UniProtKB/Swiss-Prot
    Q9NUQ6
    UniProtKB/TrEMBL
    A0A024R3V0
    Conserved Domains (1) summary
    pfam07139
    Location:59368
    DUF1387; Protein of unknown function (DUF1387)
  14. XM_017003785.2XP_016859274.1  SPATS2-like protein isoform X4

    UniProtKB/Swiss-Prot
    Q9NUQ6
    Conserved Domains (1) summary
    pfam07139
    Location:59299
    DUF1387; Protein of unknown function (DUF1387)
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