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    TSPAN19 tetraspanin 19 [ Homo sapiens (human) ]

    Gene ID: 144448, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TSPAN19provided by HGNC
    Official Full Name
    tetraspanin 19provided by HGNC
    Primary source
    HGNC:HGNC:31886
    See related
    Ensembl:ENSG00000231738 AllianceGenome:HGNC:31886
    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
    Summary
    Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis (RPKM 1.0), lung (RPKM 1.0) and 6 other tissues See more
    Orthologs
    all
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    Genomic context

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    See TSPAN19 in Genome Data Viewer
    Location:
    12q21.31
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (85014317..85036277, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (84993703..85015667, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (85408096..85430055, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene solute carrier family 6 member 15 Neighboring gene uncharacterized LOC124903121 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:85305148-85305696 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:85306245-85306792 Neighboring gene uncharacterized LOC102724680 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:85306793-85307339 Neighboring gene NANOG hESC enhancer GRCh37_chr12:85397904-85398436 Neighboring gene Sharpr-MPRA regulatory region 14945 Neighboring gene leucine rich repeats and IQ motif containing 1 Neighboring gene Sharpr-MPRA regulatory region 79 Neighboring gene ALX homeobox 1

    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. The finished DNA sequence of human chromosome 12. Scherer SE, et al. Nature, 2006 Mar 16. PMID 16541075
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
    3. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548
    4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    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)

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ44351

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    tetraspanin-19
    Names
    putative tetraspanin-19
    tspan-19

    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_001100917.2 → NP_001094387.1  tetraspanin-19

      See identical proteins and their annotated locations for NP_001094387.1

      Status: VALIDATED

      Source sequence(s)
      AK126325, BX116902, CB852874
      Consensus CDS
      CCDS44949.1
      UniProtKB/Swiss-Prot
      P0C672
      Related
      ENSP00000433816.2, ENST00000532498.7
      Conserved Domains (2) summary
      cd03160
      Location:107 → 212
      CD37_CD82_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), CD37_CD82_Like family. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment ...
      pfam00335
      Location:9 → 240
      Tetraspannin; Tetraspanin family

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      85014317..85036277 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017018863.3 → XP_016874352.1  tetraspanin-19 isoform X2

      Conserved Domains (2) summary
      cl02781
      Location:107 → 210
      tetraspanin_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL). Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment model spans the ...
      pfam00335
      Location:9 → 238
      Tetraspannin; Tetraspanin family

    2. XM_005268669.5 → XP_005268726.1  tetraspanin-19 isoform X1

      See identical proteins and their annotated locations for XP_005268726.1

      UniProtKB/Swiss-Prot
      P0C672
      Conserved Domains (2) summary
      cd03160
      Location:107 → 212
      CD37_CD82_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), CD37_CD82_Like family. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment ...
      pfam00335
      Location:9 → 240
      Tetraspannin; Tetraspanin family

    3. XM_017018862.2 → XP_016874351.1  tetraspanin-19 isoform X1

      UniProtKB/Swiss-Prot
      P0C672
      Conserved Domains (2) summary
      cd03160
      Location:107 → 212
      CD37_CD82_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), CD37_CD82_Like family. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment ...
      pfam00335
      Location:9 → 240
      Tetraspannin; Tetraspanin family

    4. XM_047428375.1 → XP_047284331.1  tetraspanin-19 isoform X3

    5. XM_017018864.2 → XP_016874353.1  tetraspanin-19 isoform X3

      Conserved Domains (3) summary
      cl02781
      Location:107 → 198
      tetraspanin_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL). Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment model spans the ...
      pfam00335
      Location:9 → 189
      Tetraspannin; Tetraspanin family
      cl00473
      Location:20 → 109
      BI-1-like; BAX inhibitor (BI)-1/YccA-like protein family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      84993703..85015667 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371181.1 → XP_054227156.1  tetraspanin-19 isoform X2

    2. XM_054371179.1 → XP_054227154.1  tetraspanin-19 isoform X1

      UniProtKB/Swiss-Prot
      P0C672

    3. XM_054371180.1 → XP_054227155.1  tetraspanin-19 isoform X1

      UniProtKB/Swiss-Prot
      P0C672

    4. XM_054371182.1 → XP_054227157.1  tetraspanin-19 isoform X3

    5. XM_054371183.1 → XP_054227158.1  tetraspanin-19 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0C672.1 GenPept UniProtKB/Swiss-Prot:P0C672

    Gene LinkOut

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