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

Gene ID: 81853, updated on 7-Apr-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 integral component of membrane. Predicted to be active in mitochondrial inner membrane. [provided by Alliance of Genome Resources, Apr 2022]
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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Location:
6p24.2
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (10747759..10759774)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (10615459..10627474)
105.20220307 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. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Xiao T, et al. Proc Natl Acad Sci U S A, 2018 Jul 31. PMID 29987050, Free PMC Article
  5. Next-generation sequencing to generate interactome datasets. Yu H, et al. Nat Methods, 2011 Jun. PMID 21516116, Free PMC Article

See all (17) 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)

Genotypes

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_2023_10

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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