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TMEM212 transmembrane protein 212 [ Homo sapiens (human) ]

Gene ID: 389177, updated on 3-Apr-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 integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

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Location:
3q26.31
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (171843349..171859318)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (174627486..174643481)
105.20220307 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
  • 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_2023_10

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.

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