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

Gene ID: 26010, updated on 10-Dec-2024

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; AllianceGenome:HGNC:24574
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
Summary
Enables RNA binding activity. Located in cytosol; nucleolus; and nucleoplasm. Part of protein-containing complex. [provided by Alliance of Genome Resources, Dec 2024]
Expression
Ubiquitous expression in gall bladder (RPKM 14.3), heart (RPKM 9.6) and 25 other tissues See more
Orthologs
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Genomic context

See SPATS2L in Genome Data Viewer
Location:
2q33.1
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (200305879..200482264)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (200789476..200965756)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (201170602..201346987)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124906112 Neighboring gene uncharacterized LOC124907962 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:200874708-200874865 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:200919369-200920289 Neighboring gene uncharacterized LOC105373833 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:201022335-201023070 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:201023071-201023805 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:201067941-201068746 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:201073293-201073822 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:201109283-201110482 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:201167128-201168327 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16955 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12223 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12224 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:201176989-201177489 Neighboring gene Sharpr-MPRA regulatory region 2520 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16956 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:201243374-201243900 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16957 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:201253767-201254966 Neighboring gene uncharacterized LOC101927741 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:201270083-201271282 Neighboring gene RNY4 pseudogene 34 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16958 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16959 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16960 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12225 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12226 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

EBI GWAS Catalog

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

Clone Names

  • FLJ14138, DKFZp564A2416

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in nucleolus IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
part_of 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)

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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
    A8K381, B4DRE6, B4DT67, B7WNZ7, Q53T22, Q8WV53, Q8WYG1, Q9NTW4, Q9NUQ6
    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
    A8K381, B4DRE6, B4DT67, B7WNZ7, Q53T22, Q8WV53, Q8WYG1, Q9NTW4, Q9NUQ6
    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
    A8K381, B4DRE6, B4DT67, B7WNZ7, Q53T22, Q8WV53, Q8WYG1, Q9NTW4, Q9NUQ6
    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/TrEMBL
    B8ZZZ7
    Related
    ENSP00000386391.1, ENST00000409385.5
    Conserved Domains (1) summary
    pfam07139
    Location:17308
    DUF1387; Protein of unknown function (DUF1387)
  6. NM_001282744.2NP_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
    A8K381, B4DRE6, B4DT67, B7WNZ7, Q53T22, Q8WV53, Q8WYG1, Q9NTW4, Q9NUQ6
    Related
    ENSP00000351503.4, ENST00000358677.9
    Conserved Domains (1) summary
    pfam07139
    Location:59368
    DUF1387; Protein of unknown function (DUF1387)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_024452788.2XP_024308556.1  SPATS2-like protein isoform X4

    Conserved Domains (1) summary
    pfam07139
    Location:59299
    DUF1387; Protein of unknown function (DUF1387)
  2. XM_011510938.2XP_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)
  3. XM_047443892.1XP_047299848.1  SPATS2-like protein isoform X1

  4. XM_005246459.2XP_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)
  5. XM_017003784.3XP_016859273.1  SPATS2-like protein isoform X3

  6. XM_047443894.1XP_047299850.1  SPATS2-like protein isoform X2

    UniProtKB/Swiss-Prot
    A8K381, B4DRE6, B4DT67, B7WNZ7, Q53T22, Q8WV53, Q8WYG1, Q9NTW4, Q9NUQ6
  7. XM_047443895.1XP_047299851.1  SPATS2-like protein isoform X4

  8. XM_005246458.3XP_005246515.1  SPATS2-like protein isoform X2

    See identical proteins and their annotated locations for XP_005246515.1

    UniProtKB/Swiss-Prot
    A8K381, B4DRE6, B4DT67, B7WNZ7, Q53T22, Q8WV53, Q8WYG1, Q9NTW4, Q9NUQ6
    Related
    ENSP00000386310.1, ENST00000409151.5
    Conserved Domains (1) summary
    pfam07139
    Location:59368
    DUF1387; Protein of unknown function (DUF1387)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    200789476..200965756
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)