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    TMEM14B transmembrane protein 14B [ Homo sapiens (human) ]

    Gene ID: 81853, updated on 9-Dec-2024

    Summary

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    Official Symbol
    TMEM14Bprovided by HGNC
    Official Full Name
    transmembrane protein 14Bprovided by HGNC
    Primary source
    HGNC:HGNC:21384
    See related
    Ensembl:ENSG00000137210 MIM:619865; AllianceGenome:HGNC:21384
    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
    Enables identical protein binding activity. Involved in cerebral cortex development; neural precursor cell proliferation; and regulation of G1/S transition of mitotic cell cycle. Predicted to be located in membrane. Predicted to be active in mitochondrial membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 31.1), bone marrow (RPKM 27.9) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See TMEM14B in Genome Data Viewer
    Location:
    6p24.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (10747759..10759774)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (10615459..10627474)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (10747992..10760007)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:10723303-10724199 Neighboring gene Sharpr-MPRA regulatory region 12108 Neighboring gene transmembrane protein 14C Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23972 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:10747832-10748052 Neighboring gene TMEM14B divergent transcript Neighboring gene RNA, 5S ribosomal pseudogene 203 Neighboring gene male germ cell associated kinase Neighboring gene ReSE screen-validated silencer GRCh37_chr6:10814688-10814873 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16907 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23973 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23974 Neighboring gene Sharpr-MPRA regulatory region 8043 Neighboring gene glial cells missing transcription factor 2

    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. The Primate-Specific Gene TMEM14B Marks Outer Radial Glia Cells and Promotes Cortical Expansion and Folding. Liu J, et al. Cell Stem Cell, 2017 Nov 2. PMID 29033352
    2. A proteome-scale map of the SARS-CoV-2-human contactome. Kim DK, et al. Nat Biotechnol, 2023 Jan. PMID 36217029, Free PMC Article
    3. Systematic identification of pathological lamin A interactors. Dittmer TA, et al. Mol Biol Cell, 2014 May. PMID 24623722, Free PMC Article
    4. Assessment of community efforts to advance network-based prediction of protein-protein interactions. Wang XW, et al. Nat Commun, 2023 Mar 22. PMID 36949045, Free PMC Article
    5. Identifications of novel host cell factors that interact with the receptor-binding domain of the SARS-CoV-2 spike protein. Tang X, et al. J Biol Chem, 2024 Jun. PMID 38777146, Free PMC Article

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TMEM14B drives NP proliferation by increasing the phosphorylation and nuclear translocation of IQGAP1, which in turn promotes G1/S cell cycle transitions.
      Title: The Primate-Specific Gene TMEM14B Marks Outer Radial Glia Cells and Promotes Cortical Expansion and Folding.
    Submit: New GeneRIF Correction

    Phenotypes

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    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

    Clone Names

    • MGC1223, FLJ60468

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cerebral cortex development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in neural precursor cell proliferation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of G1/S transition of mitotic cell cycle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of heme biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in mitochondrial membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 14B

    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_001127711.3 → NP_001121183.1  transmembrane protein 14B isoform b

      See identical proteins and their annotated locations for NP_001121183.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
      Source sequence(s)
      BC071660, BP249229
      Consensus CDS
      CCDS47372.1
      UniProtKB/Swiss-Prot
      Q9NUH8
      Related
      ENSP00000368845.3, ENST00000379530.7
      Conserved Domains (1) summary
      pfam03647
      Location:13 → 69
      Tmemb_14; Transmembrane proteins 14C

    2. NM_001286484.2 → NP_001273413.1  transmembrane protein 14B isoform c

      See identical proteins and their annotated locations for NP_001273413.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon, resulting in translation initiation at an alternate start codon and a frameshifted 5' coding region, compared to variant 1. The encoded isoform (c) has a distinct N-terminus and is shorter than isoform a.
      Source sequence(s)
      AK311340, BC071660, BG288654
      Consensus CDS
      CCDS75395.1
      UniProtKB/TrEMBL
      A0A087WU83
      Related
      ENSP00000478448.1, ENST00000612333.4
      Conserved Domains (1) summary
      pfam03647
      Location:24 → 92
      Tmemb_14; Transmembrane proteins 14C

    3. NM_001286488.2 → NP_001273417.1  transmembrane protein 14B isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) contains an alternate 3' terminal exon and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (d) has a distinct C-terminus and is longer than isoform a.
      Source sequence(s)
      AI343263, AK311340, AL024498, BG432075, BQ045109, BQ056988
      Consensus CDS
      CCDS75396.1
      UniProtKB/TrEMBL
      C9JCY4
      Related
      ENSP00000420658.1, ENST00000467317.5
      Conserved Domains (2) summary
      pfam03647
      Location:13 → 103
      Tmemb_14; Transmembrane proteins 14C
      pfam13900
      Location:104 → 151
      GVQW; Putative domain of unknown function

    4. NM_001286489.2 → NP_001273418.1  transmembrane protein 14B isoform e

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks an alternate in-frame exon in the central coding region and contains an alternate 3' terminal exon, and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (e) has a distinct C-terminus and is longer than isoform a.
      Source sequence(s)
      AI343263, AK311340, AL024498, BQ045109, BQ056988
      Consensus CDS
      CCDS75397.1
      UniProtKB/TrEMBL
      C9JQS0
      Related
      ENSP00000420172.1, ENST00000481240.5
      Conserved Domains (2) summary
      pfam03647
      Location:13 → 69
      Tmemb_14; Transmembrane proteins 14C
      pfam13900
      Location:70 → 117
      GVQW; Putative domain of unknown function

    5. NM_030969.5 → NP_112231.3  transmembrane protein 14B isoform a

      See identical proteins and their annotated locations for NP_112231.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform a.
      Source sequence(s)
      AK311340, BC071660
      Consensus CDS
      CCDS4515.1
      UniProtKB/Swiss-Prot
      Q5THN7, Q5THN8, Q96IX7, Q9BVN8, Q9NUH8
      UniProtKB/TrEMBL
      A8K768
      Related
      ENSP00000368858.5, ENST00000379542.10
      Conserved Domains (1) summary
      pfam03647
      Location:13 → 103
      Tmemb_14; Transmembrane proteins 14C

    RNA

    1. NR_104454.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AK311340, BC071660, BU954633
      Related
      ENST00000473276.5

    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
      10747759..10759774
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      10615459..10627474
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NUH8.1 GenPept UniProtKB/Swiss-Prot:Q9NUH8

    Gene LinkOut

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

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