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    TMEM191B transmembrane protein 191B [ Homo sapiens (human) ]

    Gene ID: 728229, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TMEM191Bprovided by HGNC
    Official Full Name
    transmembrane protein 191Bprovided by HGNC
    Primary source
    HGNC:HGNC:33600
    See related
    Ensembl:ENSG00000278558 AllianceGenome:HGNC:33600
    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. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in testis (RPKM 7.4), brain (RPKM 0.8) and 4 other tissues See more
    Orthologs
    all
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    Genomic context

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    See TMEM191B in Genome Data Viewer
    Location:
    22q11.21
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (18527802..18530573)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (20377669..20380440)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 247 member B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:20361787-20362627 Neighboring gene gamma-glutamyltransferase light chain family member 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:20377409-20377989 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13450 Neighboring gene phosphatidylinositol 4-kinase alpha pseudogene 1 Neighboring gene uncharacterized LOC124905077 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:20403447-20404004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:20416022-20416587

    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 DNA sequence of human chromosome 22. Dunham I, et al. Nature, 1999 Dec 2. PMID 10591208
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    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

    • AC023490.1

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 191B

    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_001242313.1 → NP_001229242.1  transmembrane protein 191B

      See identical proteins and their annotated locations for NP_001229242.1

      Status: VALIDATED

      Source sequence(s)
      AC023490
      Consensus CDS
      CCDS74816.1
      UniProtKB/Swiss-Prot
      A0A087WXW8, P0C7N4
      UniProtKB/TrEMBL
      A0A087X073
      Related
      ENSP00000481358.1, ENST00000612978.5
      Conserved Domains (1) summary
      pfam15194
      Location:242 → 346
      TMEM191C; TMEM191C 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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      18527802..18530573
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011546160.4 → XP_011544462.1  transmembrane protein 191B isoform X1

      UniProtKB/TrEMBL
      A0A087X073
      Related
      ENSP00000483146.2, ENST00000613577.5
      Conserved Domains (1) summary
      pfam15194
      Location:228 → 348
      TMEM191C; TMEM191C family

    RNA

    1. XR_951236.3 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0C7N4.2 GenPept UniProtKB/Swiss-Prot:P0C7N4

    Gene LinkOut

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

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