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    TMEM169 transmembrane protein 169 [ Homo sapiens (human) ]

    Gene ID: 92691, updated on 5-Mar-2024

    Summary

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    Official Symbol
    TMEM169provided by HGNC
    Official Full Name
    transmembrane protein 169provided by HGNC
    Primary source
    HGNC:HGNC:25130
    See related
    Ensembl:ENSG00000163449 AllianceGenome:HGNC:25130
    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 integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in brain (RPKM 3.2), thyroid (RPKM 1.2) and 12 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    2q35
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (216081919..216102783)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (216567275..216588187)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (216946642..216967506)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373870 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:216786644-216787283 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:216787284-216787924 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:216792334-216792860 Neighboring gene melanoregulin Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12301 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17077 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17078 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17079 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17080 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17081 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:216877329-216878096 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12302 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17082 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17083 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17085 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17084 Neighboring gene peroxisomal trans-2-enoyl-CoA reductase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17086 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17087 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12303 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17088 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:216973795-216974416 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17089 Neighboring gene Sharpr-MPRA regulatory regions 7837 and 8351 Neighboring gene X-ray repair cross complementing 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17091 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17092 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:217020960-217022159 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene Neighboring gene DNA polymerase eta pseudogene 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. Multistudy fine mapping of chromosome 2q identifies XRCC5 as a chronic obstructive pulmonary disease susceptibility gene. Hersh CP, et al. Am J Respir Crit Care Med, 2010 Sep 1. PMID 20463177, Free PMC Article
    2. PAK4 promotes kinase-independent stabilization of RhoU to modulate cell adhesion. Dart AE, et al. J Cell Biol, 2015 Nov 23. PMID 26598620, Free PMC Article
    3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Hillier LW, et al. Nature, 2005 Apr 7. PMID 15815621
    4. SUMOylation of DDX39A Alters Binding and Export of Antiviral Transcripts to Control Innate Immunity. Shi P, et al. J Immunol, 2020 Jul 1. PMID 32393512
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Multistudy fine mapping of chromosome 2q identifies XRCC5 as a chronic obstructive pulmonary disease susceptibility gene.
    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)

    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

    • FLJ34263, DKFZp781L2456

    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 169

    NCBI Reference Sequences (RefSeq)

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    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_001142310.2 → NP_001135782.1  transmembrane protein 169

      See identical proteins and their annotated locations for NP_001135782.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. All variants (1-4) encode the same protein.
      Source sequence(s)
      AK091582, AK172731, AW291087, DA718294
      Consensus CDS
      CCDS2401.1
      UniProtKB/Swiss-Prot
      B2R8W6, Q96HH4
      Related
      ENSP00000412524.1, ENST00000454545.5
      Conserved Domains (1) summary
      pfam15052
      Location:147 → 276
      TMEM169; TMEM169 protein family

    2. NM_001142311.2 → NP_001135783.1  transmembrane protein 169

      See identical proteins and their annotated locations for NP_001135783.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All variants (1-4) encode the same protein.
      Source sequence(s)
      AK091582, AW291087, BC008604
      Consensus CDS
      CCDS2401.1
      UniProtKB/Swiss-Prot
      B2R8W6, Q96HH4
      Related
      ENSP00000401305.2, ENST00000437356.7
      Conserved Domains (1) summary
      pfam15052
      Location:147 → 276
      TMEM169; TMEM169 protein family

    3. NM_001142312.2 → NP_001135784.1  transmembrane protein 169

      See identical proteins and their annotated locations for NP_001135784.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. All variants (1-4) encode the same protein.
      Source sequence(s)
      AK091582, AK172731, AW291087, DA392602
      Consensus CDS
      CCDS2401.1
      UniProtKB/Swiss-Prot
      B2R8W6, Q96HH4
      Conserved Domains (1) summary
      pfam15052
      Location:147 → 276
      TMEM169; TMEM169 protein family

    4. NM_138390.4 → NP_612399.1  transmembrane protein 169

      See identical proteins and their annotated locations for NP_612399.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All variants (1-4) encode the same protein.
      Source sequence(s)
      AK091582, AK172731, AW291087
      Consensus CDS
      CCDS2401.1
      UniProtKB/Swiss-Prot
      B2R8W6, Q96HH4
      Related
      ENSP00000295658.4, ENST00000295658.8
      Conserved Domains (1) summary
      pfam15052
      Location:147 → 276
      TMEM169; TMEM169 protein family

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      216081919..216102783
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011512173.3 → XP_011510475.1  transmembrane protein 169 isoform X1

      See identical proteins and their annotated locations for XP_011510475.1

      UniProtKB/Swiss-Prot
      B2R8W6, Q96HH4
      Conserved Domains (1) summary
      pfam15052
      Location:147 → 276
      TMEM169; TMEM169 protein family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      216567275..216588187
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054344565.1 → XP_054200540.1  transmembrane protein 169 isoform X1

      UniProtKB/Swiss-Prot
      B2R8W6, Q96HH4
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96HH4.1 GenPept UniProtKB/Swiss-Prot:Q96HH4

    Gene LinkOut

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

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