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    SERHL2 serine hydrolase like 2 [ Homo sapiens (human) ]

    Gene ID: 253190, updated on 27-Nov-2024

    Summary

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    Official Symbol
    SERHL2provided by HGNC
    Official Full Name
    serine hydrolase like 2provided by HGNC
    Primary source
    HGNC:HGNC:29446
    See related
    Ensembl:ENSG00000183569 MIM:619045; AllianceGenome:HGNC:29446
    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
    dJ222E13.1
    Summary
    Predicted to enable hydrolase activity. Predicted to be located in cytoplasmic vesicle. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in prostate (RPKM 8.8), ovary (RPKM 8.8) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SERHL2 in Genome Data Viewer
    Location:
    22q13.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (42553956..42574382)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (43034822..43055247)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (42949962..42970388)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927372 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42900600-42901233 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42904339-42905038 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42905039-42905737 Neighboring gene serine hydrolase like (pseudogene) Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42909821-42910364 Neighboring gene uncharacterized LOC124900479 Neighboring gene ribosomal RNA processing 7 homolog A Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13827 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13828 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13829 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19168 Neighboring gene Sharpr-MPRA regulatory region 9885 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42923851-42924598 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42929412-42929912 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42929913-42930413 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19170 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13830 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42956436-42957120 Neighboring gene RN7SK pseudogene 80 Neighboring gene RNA, U6 small nuclear 513, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13831 Neighboring gene ribosomal RNA processing 7 homolog B, pseudogene Neighboring gene DNA polymerase delta interacting protein 3 Neighboring gene Sharpr-MPRA regulatory region 2357 Neighboring gene uncharacterized LOC124905127 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43009109-43009652 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:43010197-43010740 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:43010741-43011284 Neighboring gene RNA, U12 small nuclear

    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. Identification of Serhl, a new member of the serine hydrolase family induced by passive stretch of skeletal muscle in vivo. Sadusky TJ, et al. Genomics, 2001 Apr 1. PMID 11352564
    2. Reevaluating human gene annotation: a second-generation analysis of chromosome 22. Collins JE, et al. Genome Res, 2003 Jan. PMID 12529303, Free PMC Article
    3. LncRNAs-directed PTEN enzymatic switch governs epithelial-mesenchymal transition. Hu Q, et al. Cell Res, 2019 Apr. PMID 30631154, Free PMC Article
    4. A genome annotation-driven approach to cloning the human ORFeome. Collins JE, et al. Genome Biol, 2004. PMID 15461802, Free PMC Article
    5. The DNA sequence of human chromosome 22. Dunham I, et al. Nature, 1999 Dec 2. PMID 10591208

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC149508, MGC157667, MGC157668

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables hydrolase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in peroxisome IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    serine hydrolase-like protein 2
    Names
    testis secretory sperm-binding protein Li 216e

    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_001284334.2 → NP_001271263.1  serine hydrolase-like protein 2 isoform b

      See identical proteins and their annotated locations for NP_001271263.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks two alternate in-frame exons in the 5' coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
      Source sequence(s)
      AL590118, AW134760, DC315058
      Consensus CDS
      CCDS63498.1
      UniProtKB/Swiss-Prot
      Q9H4I8
      Related
      ENSP00000336578.5, ENST00000335879.5
      Conserved Domains (1) summary
      COG0596
      Location:6 → 241
      MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]

    2. NM_014509.5 → NP_055324.2  serine hydrolase-like protein 2 isoform a

      See identical proteins and their annotated locations for NP_055324.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AL450314, AW134760
      Consensus CDS
      CCDS14037.1
      UniProtKB/Swiss-Prot
      B1AHE9, B1AHF0, Q0VDJ1, Q5H973, Q9BR29, Q9BR30, Q9H4I8, Q9Y3I9
      UniProtKB/TrEMBL
      A0A140VK89, Q0VDJ0
      Related
      ENSP00000331376.5, ENST00000327678.10
      Conserved Domains (1) summary
      COG0596
      Location:21 → 305
      MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]

    RNA

    1. NR_104300.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in both the 5' and 3' regions, and lacks an exon in the central region, compared to variant 1. This variant is represented as non-coding because use of the expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK294584, AL450314, AW134760

    2. NR_104301.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an exon in the central region and uses an alternate splice site in the 3' region, compared to variant 1. This variant is represented as non-coding because use of the expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK294584, AW134760, BC041802, DC315058
      Related
      ENST00000477564.5

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      42553956..42574382
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024452196.2 → XP_024307964.1  serine hydrolase-like protein 2 isoform X1

      UniProtKB/TrEMBL
      Q0VDJ0
      Conserved Domains (1) summary
      COG0596
      Location:21 → 332
      MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]

    2. XM_047441295.1 → XP_047297251.1  serine hydrolase-like protein 2 isoform X2

    3. XM_047441298.1 → XP_047297254.1  serine hydrolase-like protein 2 isoform X5

    4. XM_017028739.3 → XP_016884228.1  serine hydrolase-like protein 2 isoform X6

      UniProtKB/TrEMBL
      Q0VDJ0

    5. XM_047441296.1 → XP_047297252.1  serine hydrolase-like protein 2 isoform X3

    6. XM_047441297.1 → XP_047297253.1  serine hydrolase-like protein 2 isoform X4

    7. XM_047441301.1 → XP_047297257.1  serine hydrolase-like protein 2 isoform X9

      UniProtKB/TrEMBL
      A6ND93
      Related
      ENSP00000342425.4, ENST00000340239.8

    8. XM_047441300.1 → XP_047297256.1  serine hydrolase-like protein 2 isoform X8

    9. XM_047441299.1 → XP_047297255.1  serine hydrolase-like protein 2 isoform X7

    RNA

    1. XR_001755198.3 RNA Sequence

    2. XR_007067968.1 RNA Sequence

    3. XR_007067966.1 RNA Sequence

    4. XR_007067967.1 RNA Sequence

    5. XR_007067969.1 RNA Sequence

      Related
      ENST00000416156.6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      43034822..43055247
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325447.1 → XP_054181422.1  serine hydrolase-like protein 2 isoform X1

    2. XM_054325448.1 → XP_054181423.1  serine hydrolase-like protein 2 isoform X2

    3. XM_054325451.1 → XP_054181426.1  serine hydrolase-like protein 2 isoform X5

    4. XM_054325452.1 → XP_054181427.1  serine hydrolase-like protein 2 isoform X6

    5. XM_054325449.1 → XP_054181424.1  serine hydrolase-like protein 2 isoform X3

    6. XM_054325446.1 → XP_054181421.1  serine hydrolase-like protein 2 isoform X10

    7. XM_054325450.1 → XP_054181425.1  serine hydrolase-like protein 2 isoform X4

    8. XM_054325455.1 → XP_054181430.1  serine hydrolase-like protein 2 isoform X9

      UniProtKB/TrEMBL
      A6ND93

    9. XM_054325454.1 → XP_054181429.1  serine hydrolase-like protein 2 isoform X8

    10. XM_054325453.1 → XP_054181428.1  serine hydrolase-like protein 2 isoform X7

    RNA

    1. XR_008485380.1 RNA Sequence

    2. XR_008485381.1 RNA Sequence

    3. XR_008485378.1 RNA Sequence

    4. XR_008485379.1 RNA Sequence

    5. XR_008485382.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H4I8.1 GenPept UniProtKB/Swiss-Prot:Q9H4I8

    Gene LinkOut

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

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