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    TMEM139 transmembrane protein 139 [ Homo sapiens (human) ]

    Gene ID: 135932, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TMEM139provided by HGNC
    Official Full Name
    transmembrane protein 139provided by HGNC
    Primary source
    HGNC:HGNC:22058
    See related
    Ensembl:ENSG00000178826 MIM:616524; AllianceGenome:HGNC:22058
    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
    Broad expression in kidney (RPKM 17.4), duodenum (RPKM 16.7) and 15 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM139 in Genome Data Viewer
    Location:
    7q34
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (143284899..143288049)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (144640307..144643457)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (142981992..142985142)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375546 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:142943994-142944170 Neighboring gene TMEM139 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18719 Neighboring gene Sharpr-MPRA regulatory region 7901 Neighboring gene glutathione S-transferase kappa 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:142982077-142983276 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18720 Neighboring gene RNA, 7SL, cytoplasmic 535, pseudogene Neighboring gene caspase 2 Neighboring gene RNA, 7SL, cytoplasmic 481, pseudogene

    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. TMEM139 prevents NSCLC metastasis by inhibiting lysosomal degradation of E-cadherin. Zhang S, et al. Cancer Sci, 2022 Jun. PMID 35302694, Free PMC Article
    2. Transmembrane protein 139 (TMEM139) interacts with human kidney isoform of anion exchanger 1 (kAE1). Nuiplot NO, et al. Biochem Biophys Res Commun, 2015 Aug 7. PMID 26049106
    3. Identification of genes related to Parkinson's disease using expressed sequence tags. Kim JM, et al. DNA Res, 2006 Dec 31. PMID 17213182
    4. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. Hosgood HD 3rd, et al. Occup Environ Med, 2009 Dec. PMID 19773279, Free PMC Article
    5. Proteome-scale mapping of binding sites in the unstructured regions of the human proteome. Benz C, et al. Mol Syst Biol, 2022 Jan. PMID 35044719, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TMEM139 prevents NSCLC metastasis by inhibiting lysosomal degradation of E-cadherin.
      Title: TMEM139 prevents NSCLC metastasis by inhibiting lysosomal degradation of E-cadherin.
    2. presented data demonstrate that TMEM139 interacts with kAE1 and promotes its intracellular trafficking
      Title: Transmembrane protein 139 (TMEM139) interacts with human kidney isoform of anion exchanger 1 (kAE1).
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.
    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

    Potential readthrough

    Included gene: CASP2

    Homology

    Clone Names

    • FLJ90586

    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 membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 139

    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_001242773.2 → NP_001229702.1  transmembrane protein 139 precursor

      See identical proteins and their annotated locations for NP_001229702.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, 4, 8, and 9 encode the same protein.
      Source sequence(s)
      AK315170, BC035517, CB241413, HY180523
      Consensus CDS
      CCDS5878.1
      UniProtKB/Swiss-Prot
      B2RCL5, D3DXD4, Q6ZME2, Q8IV31, Q8NC22, Q96AU8
      Related
      ENSP00000386335.1, ENST00000409244.5

    2. NM_001242774.3 → NP_001229703.1  transmembrane protein 139 precursor

      See identical proteins and their annotated locations for NP_001229703.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, 4, 8, and 9 encode the same protein.
      Source sequence(s)
      AC073342, AK172816, BC035517
      Consensus CDS
      CCDS5878.1
      UniProtKB/Swiss-Prot
      B2RCL5, D3DXD4, Q6ZME2, Q8IV31, Q8NC22, Q96AU8
      Related
      ENSP00000386564.1, ENST00000410004.1

    3. NM_001242775.3 → NP_001229704.1  transmembrane protein 139 precursor

      See identical proteins and their annotated locations for NP_001229704.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, 4, 8, and 9 encode the same protein.
      Source sequence(s)
      BC035517, DA626625, HY180523
      Consensus CDS
      CCDS5878.1
      UniProtKB/Swiss-Prot
      B2RCL5, D3DXD4, Q6ZME2, Q8IV31, Q8NC22, Q96AU8

    4. NM_001282876.2 → NP_001269805.1  transmembrane protein 139 precursor

      See identical proteins and their annotated locations for NP_001269805.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, 4, 8, and 9 encode the same protein.
      Source sequence(s)
      BC035517, DA628164
      Consensus CDS
      CCDS5878.1
      UniProtKB/Swiss-Prot
      B2RCL5, D3DXD4, Q6ZME2, Q8IV31, Q8NC22, Q96AU8
      Related
      ENSP00000352284.3, ENST00000359333.8

    5. NM_001282877.1 → NP_001269806.1  transmembrane protein 139 precursor

      See identical proteins and their annotated locations for NP_001269806.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, 4, 8, and 9 encode the same protein.
      Source sequence(s)
      BC035517, CB241413, HY180523
      Consensus CDS
      CCDS5878.1
      UniProtKB/Swiss-Prot
      B2RCL5, D3DXD4, Q6ZME2, Q8IV31, Q8NC22, Q96AU8

    6. NM_153345.3 → NP_699176.1  transmembrane protein 139 precursor

      See identical proteins and their annotated locations for NP_699176.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the functional protein. Variants 1, 2, 3, 4, 8, and 9 encode the same protein.
      Source sequence(s)
      AK075067, BC035517, CB241413, HY180523
      Consensus CDS
      CCDS5878.1
      UniProtKB/Swiss-Prot
      B2RCL5, D3DXD4, Q6ZME2, Q8IV31, Q8NC22, Q96AU8
      Related
      ENSP00000387044.1, ENST00000409541.5

    RNA

    1. NR_040003.3 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) uses an alternate 5' exon structure, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      BC035517, BE018738, DA839855
      Related
      ENST00000471161.1

    2. NR_104250.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) uses an alternate 5' exon structure, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      BC035517, CB142336, CB241413, HY180523

    3. NR_104251.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) uses an alternate 5' exon structure, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      BC035517, CB241413, DT220400, HY180523

    4. NR_104252.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (10) uses an alternate 5' exon structure, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      BC035517, BF036500, CB241413, DB222115, HY180523

    5. NR_104253.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (11) uses an alternate 5' exon structure, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      BC035517, BI761527, CB156055, HY180523

    6. NR_104254.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (12) uses an alternate 5' exon structure, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      BC035517, BE562464, HY180523, R69052

    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
      143284899..143288049
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      144640307..144643457
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IV31.1 GenPept UniProtKB/Swiss-Prot:Q8IV31

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