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    TMEM14C transmembrane protein 14C [ Homo sapiens (human) ]

    Gene ID: 51522, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TMEM14Cprovided by HGNC
    Official Full Name
    transmembrane protein 14Cprovided by HGNC
    Primary source
    HGNC:HGNC:20952
    See related
    Ensembl:ENSG00000111843 MIM:615318; AllianceGenome:HGNC:20952
    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
    NET26; C6orf53; HSPC194; MSTP073; bA421M1.6
    Summary
    Predicted to be involved in regulation of heme biosynthetic process. Predicted to act upstream of or within erythrocyte differentiation; mitochondrial transport; and nitrogen compound transport. Located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in fat (RPKM 65.2), adrenal (RPKM 55.4) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See TMEM14C in Genome Data Viewer
    Location:
    6p24.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (10723070..10731127)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (10590767..10598824)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (10723303..10731360)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene GCNT2 pseudogene 1 Neighboring gene MPRA-validated peak5653 silencer Neighboring gene chromosome 6 open reading frame 52 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23970 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:10694821-10695423 Neighboring gene PAK1 interacting protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16902 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16903 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:10723303-10724199 Neighboring gene Sharpr-MPRA regulatory region 12108 Neighboring gene TMEM14B divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23972 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:10747832-10748052 Neighboring gene transmembrane protein 14B Neighboring gene RNA, 5S ribosomal pseudogene 203

    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. Coordinated missplicing of TMEM14C and ABCB7 causes ring sideroblast formation in SF3B1-mutant myelodysplastic syndrome. Clough CA, et al. Blood, 2022 Mar 31. PMID 34861039, Free PMC Article
    2. Phase I First-in-Human Dose Escalation Study of the oral SF3B1 modulator H3B-8800 in myeloid neoplasms. Steensma DP, et al. Leukemia, 2021 Dec. PMID 34172893, Free PMC Article
    3. TMEM14C is required for erythroid mitochondrial heme metabolism. Yien YY, et al. J Clin Invest, 2014 Oct. PMID 25157825, Free PMC Article
    4. Nuclear membrane proteins with potential disease links found by subtractive proteomics. Schirmer EC, et al. Science, 2003 Sep 5. PMID 12958361
    5. Discovery of genes essential for heme biosynthesis through large-scale gene expression analysis. Nilsson R, et al. Cell Metab, 2009 Aug. PMID 19656490, Free PMC Article

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Coordinated missplicing of TMEM14C and ABCB7 causes ring sideroblast formation in SF3B1-mutant myelodysplastic syndrome.
      Title: Coordinated missplicing of TMEM14C and ABCB7 causes ring sideroblast formation in SF3B1-mutant myelodysplastic syndrome.
    2. Phase I First-in-Human Dose Escalation Study of the oral SF3B1 modulator H3B-8800 in myeloid neoplasms.
      Title: Phase I First-in-Human Dose Escalation Study of the oral SF3B1 modulator H3B-8800 in myeloid neoplasms.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    4. Required for functional heme biosynthesis in erythroid cells.
      Title: Discovery of genes essential for heme biosynthesis through large-scale gene expression analysis.
    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

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in erythrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in heme biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitochondrial transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of heme biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in mitochondrial membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion HTP PubMed 

    General protein information

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    Preferred Names
    transmembrane protein 14C

    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_001165258.2 → NP_001158730.1  transmembrane protein 14C

      See identical proteins and their annotated locations for NP_001158730.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AL702149, BC010086, CX784985
      Consensus CDS
      CCDS4514.1
      UniProtKB/Swiss-Prot
      Q5T4I6, Q9P0S9
      UniProtKB/TrEMBL
      Q53F27
      Related
      ENSP00000444561.1, ENST00000541412.5
      Conserved Domains (1) summary
      pfam03647
      Location:12 → 101
      Tmemb_14; Transmembrane proteins 14C

    2. NM_016462.4 → NP_057546.1  transmembrane protein 14C

      See identical proteins and their annotated locations for NP_057546.1

      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)
      BC010086, CX784985
      Consensus CDS
      CCDS4514.1
      UniProtKB/Swiss-Prot
      Q5T4I6, Q9P0S9
      UniProtKB/TrEMBL
      Q53F27
      Related
      ENSP00000229563.5, ENST00000229563.6
      Conserved Domains (1) summary
      pfam03647
      Location:12 → 101
      Tmemb_14; Transmembrane proteins 14C

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      10723070..10731127
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_018654713.1 Reference GRCh38.p14 PATCHES

      Range
      233954..242011
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      10590767..10598824
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P0S9.1 GenPept UniProtKB/Swiss-Prot:Q9P0S9

    Gene LinkOut

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

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