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    SERINC2 serine incorporator 2 [ Homo sapiens (human) ]

    Gene ID: 347735, updated on 5-Mar-2024

    Summary

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    Official Symbol
    SERINC2provided by HGNC
    Official Full Name
    serine incorporator 2provided by HGNC
    Primary source
    HGNC:HGNC:23231
    See related
    Ensembl:ENSG00000168528 MIM:614549; AllianceGenome:HGNC:23231
    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
    TDE2; TDE2L; FKSG84; PRO0899
    Summary
    Predicted to be involved in several processes, including phosphatidylserine metabolic process; positive regulation of CDP-diacylglycerol-serine O-phosphatidyltransferase activity; and positive regulation of serine C-palmitoyltransferase activity. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in urinary bladder (RPKM 35.4), colon (RPKM 35.3) and 17 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    1p35.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (31409777..31434678)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (31262102..31291896)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (31882624..31907525)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903892 Neighboring gene Sharpr-MPRA regulatory region 3310 Neighboring gene uncharacterized LOC105378623 Neighboring gene Sharpr-MPRA regulatory region 2178 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:31885808-31886308 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:31887579-31888127 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 569 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:31897069-31897630 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:31897631-31898192 Neighboring gene uncharacterized LOC124903900 Neighboring gene MS1 minisatellite repeat instability region Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:31907359-31908163 Neighboring gene uncharacterized LOC105378625 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:31926120-31927319 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:31943609-31944808 Neighboring gene uncharacterized LOC105379772

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. SERINC2 increases the risk of bipolar disorder in the Chinese population. Yang D, et al. Depress Anxiety, 2021 Sep. PMID 34288243
    2. Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder. Hnoonual A, et al. Sci Rep, 2017 Sep 21. PMID 28935972, Free PMC Article
    3. Rare SERINC2 variants are specific for alcohol dependence in individuals of European descent. Zuo L, et al. Pharmacogenet Genomics, 2013 Aug. PMID 23778322, Free PMC Article
    4. Localization to detergent-resistant membranes and HIV-1 core entry inhibition correlate with HIV-1 restriction by SERINC5. Schulte B, et al. Virology, 2018 Feb. PMID 29268082, Free PMC Article
    5. siRNA-mediated knockdown of hTDE2 retards cell cycle progression through transcriptional activation of p21. Ren WH, et al. Oncol Rep, 2014 Mar. PMID 24424505

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SERINC2 increases the risk of bipolar disorder in the Chinese population.
      Title: SERINC2 increases the risk of bipolar disorder in the Chinese population.
    2. Results suggest that the serine incorporator 2 (SERINC2) gene is a novel autism spectrum disorder (ASD) candidate gene.
      Title: Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder.
    3. In contrast to human SERINC5(S5), we observed that human SERINC2(S2) did not restrict HIV-1, and was inefficiently incorporated into HIV-1 virions when compared to S5.
      Title: Localization to detergent-resistant membranes and HIV-1 core entry inhibition correlate with HIV-1 restriction by SERINC5.
    4. TDE2 may have an effect on tumor cell growth by influencing the expression of SREBP and p21.
      Title: siRNA-mediated knockdown of hTDE2 retards cell cycle progression through transcriptional activation of p21.
    5. In subjects of European descent, SERINC2-NKAIN1 expression of genes is associated with alcohol dependence.
      Title: NKAIN1-SERINC2 is a functional, replicable and genome-wide significant risk gene region specific for alcohol dependence in subjects of European descent.
    6. study concluded that SERINC2 was a replicable and significant risk gene specific for alcohol dependence in individuals of European descent
      Title: Rare SERINC2 variants are specific for alcohol dependence in individuals of European descent.
    7. SERINC2 protein localizes in lysosomes in HeLa cells
      Title: Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    NKAIN1-SERINC2 is a functional, replicable and genome-wide significant risk gene region specific for alcohol dependence in subjects of European descent.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC90340

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    serine incorporator 2
    Names
    tumor differentially expressed protein 2

    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_001199037.2 → NP_001185966.1  serine incorporator 2 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has an alternate 5' exon compared to variant 1. The resulting isoform (3) has a longer and distinct N-terminus, as compared to isoform 1.
      Source sequence(s)
      AC114494, AK298512, BC007375, BC084580, BM924335, DC363849
      Consensus CDS
      CCDS55584.1
      Related
      ENSP00000444307.1, ENST00000536859.5
      Conserved Domains (1) summary
      pfam03348
      Location:21 → 457
      Serinc; Serine incorporator (Serinc)

    2. NM_001199038.2 → NP_001185967.1  serine incorporator 2 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) has an alternate 5' sequence compared to variant 1. The resulting isoform (4) has a longer and distinct N-terminus, as compared to isoform 1.
      Source sequence(s)
      AK127659, BC007375, BC084580, BM924335
      Consensus CDS
      CCDS55583.1
      Related
      ENSP00000362814.1, ENST00000373710.5
      Conserved Domains (1) summary
      pfam03348
      Location:26 → 462
      Serinc; Serine incorporator (Serinc)

    3. NM_001199039.2 → NP_001185968.1  serine incorporator 2 isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) has an alternate 5' exon, resulting in a downstream AUG start codon, compared to variant 1. The resulting isoform (5) has a shorter N-terminus, as compared to isoform 1.
      Source sequence(s)
      AC114494, AK093784, BC007375, BC084580
      Related
      ENST00000491976.1
      Conserved Domains (1) summary
      pfam03348
      Location:1 → 398
      Serinc; Serine incorporator (Serinc)

    4. NM_018565.4 → NP_061035.2  serine incorporator 2 isoform 2

      See identical proteins and their annotated locations for NP_061035.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an alternate 5' exon compared to variant 1. The resulting isoform (2) has a longer and distinct N-terminus, as compared to isoform 1.
      Source sequence(s)
      AK316357, BC007375, BC084580, BM924335
      Consensus CDS
      CCDS55585.1
      Related
      ENSP00000439048.1, ENST00000536384.2
      Conserved Domains (1) summary
      pfam03348
      Location:21 → 457
      Serinc; Serine incorporator (Serinc)

    5. NM_178865.5 → NP_849196.2  serine incorporator 2 isoform 1

      See identical proteins and their annotated locations for NP_849196.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) is a predominant transcript and encodes isoform (1).
      Source sequence(s)
      AK127659, AY094595, BC007375, BC084580, BM924335
      Consensus CDS
      CCDS30662.1
      UniProtKB/Swiss-Prot
      A0AVB4, B4DJK5, B7Z567, B7ZAP2, E7EUZ9, Q86Y23, Q96SA4
      Related
      ENSP00000362813.3, ENST00000373709.8
      Conserved Domains (1) summary
      pfam03348
      Location:17 → 453
      Serinc; Serine incorporator (Serinc)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      31409777..31434678
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      31262102..31291896
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96SA4.3 GenPept UniProtKB/Swiss-Prot:Q96SA4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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