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    TMEM196 transmembrane protein 196 [ Homo sapiens (human) ]

    Gene ID: 256130, updated on 27-Nov-2024

    Summary

    Official Symbol
    TMEM196provided by HGNC
    Official Full Name
    transmembrane protein 196provided by HGNC
    Primary source
    HGNC:HGNC:22431
    See related
    Ensembl:ENSG00000173452 AllianceGenome:HGNC:22431
    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
    Involved in several processes, including negative regulation of cell growth; negative regulation of cell migration; and positive regulation of apoptotic process. Located in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in brain (RPKM 2.3), adrenal (RPKM 0.4) and 2 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See TMEM196 in Genome Data Viewer
    Location:
    7p21.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (19719315..19773617, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (19853775..19908049, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (19758938..19813240, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375180 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:19728484-19728984 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:19731604-19732104 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:19747784-19748388 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:19748389-19748991 Neighboring gene uncharacterized LOC107986774 Neighboring gene RNA polymerase I subunit F Neighboring gene microRNA 3146 Neighboring gene uncharacterized LOC105379720 Neighboring gene uncharacterized LOC101927668 Neighboring gene ribosomal protein L21 pseudogene 75

    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
    A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study.
    EBI GWAS Catalog
    Genome-Wide Association Study of Intracranial Aneurysm Identifies a New Association on Chromosome 7.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC42090, DKFZp686K0753, DKFZp686H19205

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001363562.2NP_001350491.1  transmembrane protein 196 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC004543
      Consensus CDS
      CCDS87484.1
      UniProtKB/TrEMBL
      B7WNR7
      Related
      ENSP00000385087.2, ENST00000405844.6
    2. NM_001366625.1NP_001353554.1  transmembrane protein 196 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC004543, BG197605, BX647256, BX648384
    3. NM_001366626.1NP_001353555.1  transmembrane protein 196 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC004543, CK823401
      UniProtKB/Swiss-Prot
      Q5HYL7, Q8N6I6
    4. NM_001366627.1NP_001353556.1  transmembrane protein 196 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC004543
      Consensus CDS
      CCDS94061.1
      UniProtKB/TrEMBL
      F8WE15
      Related
      ENSP00000414247.1, ENST00000422233.5
    5. NM_001366628.1NP_001353557.1  transmembrane protein 196 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC004543
      Consensus CDS
      CCDS94060.1
      Related
      ENSP00000438368.1, ENST00000493519.2
    6. NM_152774.3NP_689987.3  transmembrane protein 196 isoform 1

      Status: VALIDATED

      Source sequence(s)
      BX647256, BX648384, DN991960
      Consensus CDS
      CCDS34607.2
      UniProtKB/Swiss-Prot
      Q5HYL7
      Related
      ENSP00000384234.3, ENST00000405764.7

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      19719315..19773617 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017011929.3XP_016867418.1  transmembrane protein 196 isoform X2

    2. XM_017011928.3XP_016867417.1  transmembrane protein 196 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      19853775..19908049 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357747.1XP_054213722.1  transmembrane protein 196 isoform X2

    2. XM_054357746.1XP_054213721.1  transmembrane protein 196 isoform X1