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TMEM139 transmembrane protein 139 [ Homo sapiens (human) ]

Gene ID: 135932, updated on 5-Mar-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 integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in kidney (RPKM 17.4), duodenum (RPKM 16.7) and 15 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (143284899..143288049)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (144640307..144643457)
105.20220307 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)

Genotypes

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_2023_10

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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