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    TMEM212 transmembrane protein 212 [ Homo sapiens (human) ]

    Gene ID: 389177, updated on 28-Oct-2024

    Summary

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    Official Symbol
    TMEM212provided by HGNC
    Official Full Name
    transmembrane protein 212provided by HGNC
    Primary source
    HGNC:HGNC:34295
    See related
    Ensembl:ENSG00000186329 AllianceGenome:HGNC:34295
    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
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM212 in Genome Data Viewer
    Location:
    3q26.31
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (171843349..171859318)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (174627486..174643481)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (171561139..171577108)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 12788 Neighboring gene MT-CO1 pseudogene 58 Neighboring gene phospholipase D1 Neighboring gene small nucleolar RNA U13 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:171436449-171437034 Neighboring gene Sharpr-MPRA regulatory region 14633 Neighboring gene TMEM212 antisense RNA 1 Neighboring gene uncharacterized LOC105374218 Neighboring gene Sharpr-MPRA regulatory region 13471 Neighboring gene uncharacterized LOC105374217 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:171678336-171678836 Neighboring gene FOXA motif-containing MPRA enhancer 130

    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 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. Genetic variants affecting the neural processing of human facial expressions: evidence using a genome-wide functional imaging approach. Brown AA, et al. Transl Psychiatry, 2012 Jul 24. PMID 22828495, Free PMC Article
    2. Genome-wide association of BMI in African Americans. Ng MC, et al. Obesity (Silver Spring), 2012 Mar. PMID 21701570, Free PMC Article
    3. Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker. Turner ST, et al. Hypertension, 2012 Jun. PMID 22566498, Free PMC Article
    4. The DNA sequence, annotation and analysis of human chromosome 3. Muzny DM, et al. Nature, 2006 Apr 27. PMID 16641997
    5. A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. Wang KS, et al. Schizophr Res, 2010 Dec. PMID 20889312

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The specialized function of this brain region suggests that TMEM212 could contribute to the innate architecture of face processing.
      Title: Genetic variants affecting the neural processing of human facial expressions: evidence using a genome-wide functional imaging approach.
    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 meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
    EBI GWAS Catalog
    Genome-wide association of BMI in African Americans.
    EBI GWAS Catalog
    Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker.
    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)

    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

    • FLJ23172

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 212

    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_001164436.2 → NP_001157908.1  transmembrane protein 212

      See identical proteins and their annotated locations for NP_001157908.1

      Status: VALIDATED

      Source sequence(s)
      AK026825, DB199311
      Consensus CDS
      CCDS46958.1
      UniProtKB/Swiss-Prot
      A6NML5
      UniProtKB/TrEMBL
      H7C390
      Related
      ENSP00000334072.5, ENST00000334567.9

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      171843349..171859318
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011512817.1 → XP_011511119.1  transmembrane protein 212 isoform X1

      See identical proteins and their annotated locations for XP_011511119.1

      UniProtKB/Swiss-Prot
      A6NML5
      UniProtKB/TrEMBL
      H7C390
      Related
      ENSP00000484106.1, ENST00000619900.4

    2. XM_017006376.2 → XP_016861865.1  transmembrane protein 212 isoform X2

      UniProtKB/TrEMBL
      H7C390

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      174627486..174643481
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346480.1 → XP_054202455.1  transmembrane protein 212 isoform X1

      UniProtKB/Swiss-Prot
      A6NML5

    2. XM_054346481.1 → XP_054202456.1  transmembrane protein 212 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NML5.2 GenPept UniProtKB/Swiss-Prot:A6NML5

    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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