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

Gene ID: 51522, updated on 7-Sep-2023

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 mitochondrial transport. Predicted to act upstream of or within erythrocyte differentiation and regulation of heme biosynthetic process. Predicted to be located in mitochondrion. Predicted to be active in mitochondrial inner membrane. [provided by Alliance of Genome Resources, Apr 2022]
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_2023_03 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (10723070..10731127)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (10590767..10598824)
105.20220307 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 chromosome 6 open reading frame 52 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:10694821-10695423 Neighboring gene PAK1 interacting protein 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:10723303-10724199 Neighboring gene Sharpr-MPRA regulatory region 12108 Neighboring gene TMEM14B divergent transcript 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 (25) 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)

Genotypes

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 nitrogen compound transport IEA
Inferred from Electronic Annotation
more info
  
involved_in organic substance transport IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of heme biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
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
 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
    A0A024R001, 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
    A0A024R001, 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_2023_03

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.

Chemical Information
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