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    TMEM121B transmembrane protein 121B [ Homo sapiens (human) ]

    Gene ID: 27439, updated on 17-Sep-2024

    Summary

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    Official Symbol
    TMEM121Bprovided by HGNC
    Official Full Name
    transmembrane protein 121Bprovided by HGNC
    Primary source
    HGNC:HGNC:1844
    See related
    Ensembl:ENSG00000183307 AllianceGenome:HGNC:1844
    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
    CECR6
    Expression
    Biased expression in brain (RPKM 5.3), prostate (RPKM 2.9) and 6 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM121B in Genome Data Viewer
    Location:
    22q11.1
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (17116297..17121360, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (17793180..17798243, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (17597187..17602250, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18609 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18610 Neighboring gene cat eye syndrome chromosome region, candidate 7 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62188 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62204 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:17538919-17539419 Neighboring gene Sharpr-MPRA regulatory region 13635 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13428 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62270 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62296 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13429 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13430 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13432 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13431 Neighboring gene interleukin 17 receptor A Neighboring gene ribosomal protein L31 pseudogene 62 Neighboring gene MPRA-validated peak4440 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18611 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr22:17587847-17589046 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13433 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:17602677-17603208 Neighboring gene long intergenic non-protein coding RNA 1664 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:17618528-17619235 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:17619236-17619942 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:17624261-17624761 Neighboring gene haloacid dehalogenase like hydrolase domain containing 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13434 Neighboring gene HDHD5 antisense RNA 1

    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. Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: a search for candidate genes at or near the human chromosome 22 pericentromere. Footz TK, et al. Genome Res, 2001 Jun. PMID 11381032, Free PMC Article
    2. The PcG protein hPc2 interacts with the N-terminus of histone demethylase JARID1B and acts as a transcriptional co-repressor. Zhou W, et al. BMB Rep, 2009 Mar 31. PMID 19336002
    3. A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus. Cai DC, et al. Genes Brain Behav, 2014 Sep. PMID 25130324
    4. Genome-wide CRISPR screening reveals genetic modifiers of mutant EGFR dependence in human NSCLC. Zeng H, et al. Elife, 2019 Nov 19. PMID 31741433, Free PMC Article
    5. New genetic associations detected in a host response study to hepatitis B vaccine. Davila S, et al. Genes Immun, 2010 Apr. PMID 20237496

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: New genetic associations detected in a host response study to hepatitis B vaccine.
    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

    EBI GWAS Catalog

    Description
    A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.
    EBI GWAS Catalog

    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

    General protein information

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    Preferred Names
    transmembrane protein 121B
    Names
    cat eye syndrome chromosome region, candidate 6
    cat eye syndrome critical region protein 6

    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_001163079.2 → NP_001156551.1  transmembrane protein 121B isoform b

      See identical proteins and their annotated locations for NP_001156551.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (b) has a shorter and distinct N-terminus, compared to isoform a.
      Source sequence(s)
      AC006946, AK095609, BQ006940
      Consensus CDS
      CCDS54494.1
      UniProtKB/Swiss-Prot
      Q9BXQ6
      Related
      ENSP00000382764.1, ENST00000399875.1
      Conserved Domains (1) summary
      pfam14997
      Location:1 → 161
      CECR6_TMEM121; CECR6/TMEM121 family

    2. NM_031890.4 → NP_114096.1  transmembrane protein 121B isoform a

      See identical proteins and their annotated locations for NP_114096.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC006946, AF307451, AK055398, BG472529, BQ006940, CN365831
      Consensus CDS
      CCDS13740.1
      UniProtKB/Swiss-Prot
      A8MYY1, Q9BXQ6
      Related
      ENSP00000329318.3, ENST00000331437.4
      Conserved Domains (1) summary
      pfam14997
      Location:312 → 516
      CECR6_TMEM121; CECR6/TMEM121 family

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      17116297..17121360 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011546124.3 → XP_011544426.1  transmembrane protein 121B isoform X1

      See identical proteins and their annotated locations for XP_011544426.1

      UniProtKB/Swiss-Prot
      A8MYY1, Q9BXQ6
      Conserved Domains (1) summary
      pfam14997
      Location:312 → 516
      CECR6_TMEM121; CECR6/TMEM121 family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      17793180..17798243 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325561.1 → XP_054181536.1  transmembrane protein 121B isoform X1

      UniProtKB/Swiss-Prot
      A8MYY1, Q9BXQ6
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BXQ6.1 GenPept UniProtKB/Swiss-Prot:Q9BXQ6

    Gene LinkOut

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

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