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

    Gene ID: 81853, updated on 2-Nov-2024

    Summary

    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, Nov 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 31.1), bone marrow (RPKM 27.9) and 25 other tissues See more
    Orthologs
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    Genomic context

    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

    Expression

    • 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

    Interactions

    General gene information

    Clone Names

    • MGC1223, FLJ60468

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding PubMed 
    enables protein binding PubMed 
    Component Evidence Code Pubs
    is_active_in mitochondrial membrane  

    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_001127711.3NP_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:1369
      Tmemb_14; Transmembrane proteins 14C
    2. NM_001286484.2NP_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:2492
      Tmemb_14; Transmembrane proteins 14C
    3. NM_001286488.2NP_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:13103
      Tmemb_14; Transmembrane proteins 14C
      pfam13900
      Location:104151
      GVQW; Putative domain of unknown function
    4. NM_001286489.2NP_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:1369
      Tmemb_14; Transmembrane proteins 14C
      pfam13900
      Location:70117
      GVQW; Putative domain of unknown function
    5. NM_030969.5NP_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:13103
      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)
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