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    TMEM121 transmembrane protein 121 [ Homo sapiens (human) ]

    Gene ID: 80757, updated on 2-Nov-2024

    Summary

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    Official Symbol
    TMEM121provided by HGNC
    Official Full Name
    transmembrane protein 121provided by HGNC
    Primary source
    HGNC:HGNC:20511
    See related
    Ensembl:ENSG00000184986 AllianceGenome:HGNC:20511
    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
    Also known as
    hole; hhole; TMEM121A
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in brain (RPKM 1.4), spleen (RPKM 0.9) and 17 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM121 in Genome Data Viewer
    Location:
    14q32.33
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (105526583..105530198)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (99778054..99781666)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (105992920..105996535)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6245 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6246 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6247 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6248 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105954409-105954980 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6249 Neighboring gene hESC enhancers GRCh37_chr14:105956919-105957662 and GRCh37_chr14:105957663-105958406 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6250 Neighboring gene cysteine rich protein 1 Neighboring gene tubulin epsilon and delta complex 1 Neighboring gene Sharpr-MPRA regulatory region 9919 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105974095-105974596 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105974597-105975096 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105978261-105978760 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:105986957-105987132 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6253 Neighboring gene uncharacterized LOC105370697 Neighboring gene ATP synthase membrane subunit c locus 1 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 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. Cardiac Specific Overexpression of hHole Attenuates Isoproterenol-Induced Hypertrophic Remodeling through Inhibition of Extracellular Signal-Regulated Kinases (ERKs) Signalling. Xu W, et al. Curr Mol Med, 2016. PMID 27211802
    2. Association between SNP rs10569304 on the second expressed region of hole gene and the congenital heart disease. Zhang Y, et al. J Huazhong Univ Sci Technolog Med Sci, 2010 Aug. PMID 20714865
    3. A novel six-transmembrane protein hhole functions as a suppressor in MAPK signaling pathways. Zhou J, et al. Biochem Biophys Res Commun, 2005 Jul 29. PMID 15950185
    4. Hole is a novel gene product expressed in the developing heart and brain. Nesset AL, et al. Mech Dev, 2002 Sep. PMID 12204283
    5. Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism. Aregger M, et al. Nat Metab, 2020 Jun. PMID 32694731, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. HHole as a novel repressor of cardiac hypertrophy.
      Title: Cardiac Specific Overexpression of hHole Attenuates Isoproterenol-Induced Hypertrophic Remodeling through Inhibition of Extracellular Signal-Regulated Kinases (ERKs) Signalling.
    2. There is an insertion-deletion (GCC/-) of SNP rs10569304 in the Southern Chinese people. People with the BB genotype are at greater risk of congenital heart disease.
      Title: Association between SNP rs10569304 on the second expressed region of hole gene and the congenital heart disease.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association between SNP rs10569304 on the second expressed region of hole gene and the congenital heart disease.
    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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    Homology

    Clone Names

    • MGC4659

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 121
    Names
    transmembrane protein 121A

    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_001331238.2 → NP_001318167.1  transmembrane protein 121

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AL928654, BC004221
      Consensus CDS
      CCDS10006.1
      UniProtKB/Swiss-Prot
      Q9BTD3
      Conserved Domains (1) summary
      pfam14997
      Location:73 → 267
      CECR6_TMEM121; CECR6/TMEM121 family

    2. NM_025268.4 → NP_079544.1  transmembrane protein 121

      See identical proteins and their annotated locations for NP_079544.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AL928654, BC004221, HY134492
      Consensus CDS
      CCDS10006.1
      UniProtKB/Swiss-Prot
      Q9BTD3
      Related
      ENSP00000376304.2, ENST00000392519.7
      Conserved Domains (1) summary
      pfam14997
      Location:73 → 267
      CECR6_TMEM121; CECR6/TMEM121 family

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      105526583..105530198
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      99778054..99781666
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BTD3.1 GenPept UniProtKB/Swiss-Prot:Q9BTD3

    Gene LinkOut

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

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