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    TMEM44 transmembrane protein 44 [ Homo sapiens (human) ]

    Gene ID: 93109, updated on 30-Apr-2024

    Summary

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    Official Symbol
    TMEM44provided by HGNC
    Official Full Name
    transmembrane protein 44provided by HGNC
    Primary source
    HGNC:HGNC:25120
    See related
    Ensembl:ENSG00000145014 AllianceGenome:HGNC:25120
    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
    Ubiquitous expression in colon (RPKM 1.8), placenta (RPKM 1.5) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM44 in Genome Data Viewer
    Location:
    3q29
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (194587678..194633419, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (197286279..197332050, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (194308407..194354148, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory regions 5224 and 9858 Neighboring gene RNA, U6 small nuclear 1101, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21027 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:194274365-194274563 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:194276967-194277466 Neighboring gene ribosomal protein L23a pseudogene 93 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:194292893-194294092 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21029 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:194304263-194304928 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21030 Neighboring gene TMEM44 antisense RNA 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:194309417-194310616 Neighboring gene uncharacterized LOC105374291 Neighboring gene Sharpr-MPRA regulatory region 9326 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:194339883-194340383 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:194343378-194343921 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15026 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:194356897-194357398 Neighboring gene TMEM44 antisense RNA 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21031 Neighboring gene large 60S subunit nuclear export GTPase 1 Neighboring gene MPRA-validated peak4980 silencer Neighboring gene uncharacterized LOC124909474 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:194395226-194396425 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21032 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21033 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:194407453-194407958 Neighboring gene family with sequence similarity 43 member A

    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. Expression of genes encoding multi-transmembrane proteins in specific primate taste cell populations. Moyer BD, et al. PLoS One, 2009 Dec 4. PMID 19997627, Free PMC Article
    2. A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project. Marroni F, et al. Circ Cardiovasc Genet, 2009 Aug. PMID 20031603, Free PMC Article
    3. PELI1 Selectively Targets Kinase-Active RIP3 for Ubiquitylation-Dependent Proteasomal Degradation. Choi SW, et al. Mol Cell, 2018 Jun 7. PMID 29883609
    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. A directed protein interaction network for investigating intracellular signal transduction. Vinayagam A, et al. Sci Signal, 2011 Sep 6. PMID 21900206

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TMEM44 as a Novel Prognostic Marker for Kidney Renal Clear Cell Carcinoma is Associated with Tumor Invasion, Migration and Immune Infiltration.
      Title: TMEM44 as a Novel Prognostic Marker for Kidney Renal Clear Cell Carcinoma is Associated with Tumor Invasion, Migration and Immune Infiltration.
    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

    EBI GWAS Catalog

    Description
    A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.
    EBI GWAS Catalog

    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

    • MGC131692, MGC163169, DKFZp686O18124

    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 44

    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_001011655.3 → NP_001011655.1  transmembrane protein 44 isoform b

      See identical proteins and their annotated locations for NP_001011655.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
      Source sequence(s)
      AC046143, AL547748, BC034353, BC144159
      Consensus CDS
      CCDS33921.1
      UniProtKB/Swiss-Prot
      Q2T9K0
      Related
      ENSP00000333355.6, ENST00000347147.9

    2. NM_001166305.2 → NP_001159777.1  transmembrane protein 44 isoform c

      See identical proteins and their annotated locations for NP_001159777.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) includes an alternate in-frame exon in the central coding but lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (c) is longer than isoform a.
      Source sequence(s)
      AC046143, AL547748, BC034353, BC111485
      Consensus CDS
      CCDS54699.1
      UniProtKB/Swiss-Prot
      A1L3V7, B7ZLZ5, B7ZLZ6, C9JJ62, E9PGA9, Q0P6F7, Q2T9K0, Q6ZT47, Q8IXR1, Q8N4G3
      Related
      ENSP00000376227.2, ENST00000392432.6

    3. NM_001166306.2 → NP_001159778.1  transmembrane protein 44 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site and lacks an alternate exon, which results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (d) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      AC046143, AI640920, AL547748, BC014883
      Consensus CDS
      CCDS54698.1
      UniProtKB/Swiss-Prot
      Q2T9K0
      Related
      ENSP00000371402.3, ENST00000381975.7

    4. NM_138399.5 → NP_612408.3  transmembrane protein 44 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform a.
      Source sequence(s)
      AC046143, AL547748, BC034353, BC144158
      Consensus CDS
      CCDS3308.2
      UniProtKB/Swiss-Prot
      Q2T9K0
      Related
      ENSP00000418674.1, ENST00000473092.5

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      194587678..194633419 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      197286279..197332050 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q2T9K0.3 GenPept UniProtKB/Swiss-Prot:Q2T9K0

    Gene LinkOut

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

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