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    TMEM72 transmembrane protein 72 [ Homo sapiens (human) ]

    Gene ID: 643236, updated on 2-Nov-2024

    Summary

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    Official Symbol
    TMEM72provided by HGNC
    Official Full Name
    transmembrane protein 72provided by HGNC
    Primary source
    HGNC:HGNC:31658
    See related
    Ensembl:ENSG00000187783 AllianceGenome:HGNC:31658
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KSP37; C10orf127
    Summary
    This gene encodes a transmembrane protein which may be expressed specifically in the kidney. [provided by RefSeq, Sep 2016]
    Expression
    Biased expression in kidney (RPKM 17.1), colon (RPKM 1.6) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM72 in Genome Data Viewer
    Location:
    10q11.21
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (44911337..44937010)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (45792055..45818001)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (45406785..45432458)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902534 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr10:45123875-45125074 Neighboring gene MPRA-validated peak937 silencer Neighboring gene MPRA-validated peak938 silencer Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:45304779-45305441 Neighboring gene TMEM72 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:45324635-45325498 Neighboring gene eukaryotic translation initiation factor 2A pseudogene 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:45348956-45349456 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:45374502-45375428 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:45403886-45404386 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:45404387-45404887 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:45413376-45413557 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:45427808-45428515 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:45428516-45429222 Neighboring gene Sharpr-MPRA regulatory region 7362 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3314 Neighboring gene Sharpr-MPRA regulatory region 11970 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3315 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3316 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3317 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3318 Neighboring gene Sharpr-MPRA regulatory region 2327 Neighboring gene uncharacterized LOC105378281 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:45467973-45468635 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:45468636-45469297 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3319 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2342 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:45470934-45471637 Neighboring gene Sharpr-MPRA regulatory region 8316 Neighboring gene Ras association domain family member 4 Neighboring gene DEPP autophagy regulator 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 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. ER export signals mediate plasma membrane localization of transmembrane protein TMEM72. Ding J, et al. FEBS J, 2023 May. PMID 36478074
    2. Expression of pre-selected TMEMs with predicted ER localization as potential classifiers of ccRCC tumors. Wrzesiński T, et al. BMC Cancer, 2015 Jul 14. PMID 26169495, Free PMC Article
    3. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
    4. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ER export signals mediate plasma membrane localization of transmembrane protein TMEM72.
      Title: ER export signals mediate plasma membrane localization of transmembrane protein TMEM72.
    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

    • MGC157906, DKFZp686M0585

    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 72
    Names
    kidney-specific secretory protein of 37 kDa

    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.

    Genomic

    1. NG_051584.1 RefSeqGene

      Range
      5022..30695
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001123376.3 → NP_001116848.1  transmembrane protein 72 isoform 1

      See identical proteins and their annotated locations for NP_001116848.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL353801, BC127790
      Consensus CDS
      CCDS41504.1
      UniProtKB/Swiss-Prot
      A0PK05, A1L181, Q5T740
      Related
      ENSP00000374234.4, ENST00000389583.5
      Conserved Domains (1) summary
      pfam16054
      Location:4 → 189
      TMEM72; Transmembrane protein family 72

    2. NM_001345926.2 → NP_001332855.1  transmembrane protein 72 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks part of the 5' coding region and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to variant 1.
      Source sequence(s)
      AL353801, BC127789
      Consensus CDS
      CCDS86085.1
      UniProtKB/Swiss-Prot
      A0PK05
      Related
      ENSP00000439911.1, ENST00000544540.5
      Conserved Domains (1) summary
      pfam16054
      Location:1 → 71
      TMEM72; Transmembrane protein family 72

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      44911337..44937010
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      45792055..45818001
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A0PK05.1 GenPept UniProtKB/Swiss-Prot:A0PK05

    Gene LinkOut

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

    Other Literature Sources
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