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    TMEM232 transmembrane protein 232 [ Homo sapiens (human) ]

    Gene ID: 642987, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TMEM232provided by HGNC
    Official Full Name
    transmembrane protein 232provided by HGNC
    Primary source
    HGNC:HGNC:37270
    See related
    Ensembl:ENSG00000186952 MIM:620143; AllianceGenome:HGNC:37270
    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 involved in flagellated sperm motility and spermatogenesis. Predicted to act upstream of or within maintenance of protein complex location and spermatid cytoplasm removal during spermiation of flagellated sperm. Predicted to be located in membrane. Predicted to be active in outer dense fiber. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in testis (RPKM 2.0), thyroid (RPKM 0.4) and 6 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM232 in Genome Data Viewer
    Location:
    5q22.1
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (110387431..110738954, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (110898553..111249587, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (109755197..110062372, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379119 Neighboring gene long intergenic non-protein coding RNA 1848 Neighboring gene PGAM family member 5, mitochondrial serine/threonine protein phosphatase pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 2532 Neighboring gene NANOG hESC enhancer GRCh37_chr5:109328178-109328712 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:109872134-109872982 Neighboring gene microRNA 548f-3 Neighboring gene small nucleolar RNA SNORA51 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:110027790-110028290 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22884 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22885 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22886 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:110076045-110076546 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:110076547-110077046 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22887 Neighboring gene solute carrier family 25 member 46 Neighboring gene NANOG hESC enhancer GRCh37_chr5:110167579-110168112 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:110229347-110229848 Neighboring gene integrin alpha FG-GAP repeat containing 2 pseudogene Neighboring gene BCL2 associated transcription factor 1 pseudogene 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. Confirming the TMEM232 gene associated with atopic dermatitis through targeted capture sequencing. Zheng J, et al. Sci Rep, 2021 Nov 8. PMID 34750414, Free PMC Article
    2. Scanning indels in the 5q22.1 region and identification of the TMEM232 susceptibility gene that is associated with atopic dermatitis in the Chinese Han population. Wu YY, et al. Gene, 2017 Jun 20. PMID 28351738
    3. TMEM232 promotes the inflammatory response in atopic dermatitis via the nuclear factor-κB and signal transducer and activator of transcription 3 signalling pathways. Han J, et al. Br J Dermatol, 2023 Jul 17. PMID 36928730
    4. A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order. Ramasamy A, et al. J Allergy Clin Immunol, 2011 Nov. PMID 22036096
    5. Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study. Yang Q, et al. BMC Med Genet, 2007 Sep 19. PMID 17903294, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TMEM232 promotes the inflammatory response in atopic dermatitis via the nuclear factor-kappaB and signal transducer and activator of transcription 3 signalling pathways.
      Title: TMEM232 promotes the inflammatory response in atopic dermatitis via the nuclear factor-κB and signal transducer and activator of transcription 3 signalling pathways.
    2. Confirming the TMEM232 gene associated with atopic dermatitis through targeted capture sequencing.
      Title: Confirming the TMEM232 gene associated with atopic dermatitis through targeted capture sequencing.
    3. TMEM232 is the causal gene for atopic dermatitis in Chinese Han population.
      Title: Scanning indels in the 5q22.1 region and identification of the TMEM232 susceptibility gene that is associated with atopic dermatitis in the Chinese Han population.
    4. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    6. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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 of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order.
    EBI GWAS Catalog
    Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data.
    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

    Clone Names

    • FLJ35903, FLJ43080, DKFZp686G0585

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cell projection organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in flagellated sperm motility IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in flagellated sperm motility ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in maintenance of protein complex location IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in spermatid cytoplasm removal during spermiation of flagellated sperm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in spermatogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in outer dense fiber IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 232

    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_001039763.4 → NP_001034852.3  transmembrane protein 232

      See identical proteins and their annotated locations for NP_001034852.3

      Status: VALIDATED

      Source sequence(s)
      AC010349, AK296542, BM465182
      Consensus CDS
      CCDS47253.2
      UniProtKB/Swiss-Prot
      B4DKF4, C9JQI7
      Related
      ENSP00000401477.2, ENST00000455884.7
      Conserved Domains (1) summary
      pfam15877
      Location:42 → 485
      TMEM232; Transmembrane protein family 232

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      110387431..110738954 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011543565.4 → XP_011541867.1  transmembrane protein 232 isoform X11

      Conserved Domains (1) summary
      pfam15877
      Location:42 → 485
      TMEM232; Transmembrane protein family 232

    2. XM_047417493.1 → XP_047273449.1  transmembrane protein 232 isoform X7

    3. XM_006714670.4 → XP_006714733.1  transmembrane protein 232 isoform X1

      See identical proteins and their annotated locations for XP_006714733.1

      UniProtKB/Swiss-Prot
      B4DKF4, C9JQI7
      Conserved Domains (1) summary
      pfam15877
      Location:42 → 485
      TMEM232; Transmembrane protein family 232

    4. XM_011543555.3 → XP_011541857.1  transmembrane protein 232 isoform X2

      See identical proteins and their annotated locations for XP_011541857.1

      Conserved Domains (1) summary
      pfam15877
      Location:23 → 466
      TMEM232; Transmembrane protein family 232

    5. XM_011543552.3 → XP_011541854.1  transmembrane protein 232 isoform X1

      See identical proteins and their annotated locations for XP_011541854.1

      UniProtKB/Swiss-Prot
      B4DKF4, C9JQI7
      Conserved Domains (1) summary
      pfam15877
      Location:42 → 485
      TMEM232; Transmembrane protein family 232

    6. XM_011543556.3 → XP_011541858.1  transmembrane protein 232 isoform X2

      See identical proteins and their annotated locations for XP_011541858.1

      Conserved Domains (1) summary
      pfam15877
      Location:23 → 466
      TMEM232; Transmembrane protein family 232

    7. XM_011543553.3 → XP_011541855.1  transmembrane protein 232 isoform X1

      See identical proteins and their annotated locations for XP_011541855.1

      UniProtKB/Swiss-Prot
      B4DKF4, C9JQI7
      Conserved Domains (1) summary
      pfam15877
      Location:42 → 485
      TMEM232; Transmembrane protein family 232

    8. XM_047417495.1 → XP_047273451.1  transmembrane protein 232 isoform X12

    9. XM_011543560.3 → XP_011541862.1  transmembrane protein 232 isoform X7

      Conserved Domains (1) summary
      pfam15877
      Location:1 → 367
      TMEM232; Transmembrane protein family 232

    10. XM_047417492.1 → XP_047273448.1  transmembrane protein 232 isoform X6

    11. XM_047417491.1 → XP_047273447.1  transmembrane protein 232 isoform X4

    12. XM_011543559.3 → XP_011541861.1  transmembrane protein 232 isoform X5

      Conserved Domains (1) summary
      pfam15877
      Location:42 → 485
      TMEM232; Transmembrane protein family 232

    13. XM_047417494.1 → XP_047273450.1  transmembrane protein 232 isoform X8

    14. XM_011543561.3 → XP_011541863.1  transmembrane protein 232 isoform X8

      Conserved Domains (1) summary
      pfam15877
      Location:42 → 485
      TMEM232; Transmembrane protein family 232

    15. XM_011543563.3 → XP_011541865.1  transmembrane protein 232 isoform X10

      Conserved Domains (1) summary
      pfam15877
      Location:42 → 485
      TMEM232; Transmembrane protein family 232

    16. XM_011543557.3 → XP_011541859.1  transmembrane protein 232 isoform X3

      Conserved Domains (1) summary
      pfam15877
      Location:42 → 485
      TMEM232; Transmembrane protein family 232

    17. XM_017009706.3 → XP_016865195.1  transmembrane protein 232 isoform X9

    18. XM_017009705.3 → XP_016865194.1  transmembrane protein 232 isoform X3

      Conserved Domains (1) summary
      pfam15877
      Location:42 → 485
      TMEM232; Transmembrane protein family 232

    19. XM_011543567.4 → XP_011541869.1  transmembrane protein 232 isoform X13

      Conserved Domains (1) summary
      pfam15877
      Location:42 → 485
      TMEM232; Transmembrane protein family 232

    RNA

    1. XR_001742182.2 RNA Sequence

    2. XR_001742181.2 RNA Sequence

    3. XR_007058620.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      110898553..111249587 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054353093.1 → XP_054209068.1  transmembrane protein 232 isoform X11

    2. XM_054353088.1 → XP_054209063.1  transmembrane protein 232 isoform X7

    3. XM_054353079.1 → XP_054209054.1  transmembrane protein 232 isoform X1

    4. XM_054353082.1 → XP_054209057.1  transmembrane protein 232 isoform X2

    5. XM_054353081.1 → XP_054209056.1  transmembrane protein 232 isoform X1

    6. XM_054353083.1 → XP_054209058.1  transmembrane protein 232 isoform X2

    7. XM_054353080.1 → XP_054209055.1  transmembrane protein 232 isoform X1

    8. XM_054353094.1 → XP_054209069.1  transmembrane protein 232 isoform X12

    9. XM_054353089.1 → XP_054209064.1  transmembrane protein 232 isoform X7

    10. XM_054353087.1 → XP_054209062.1  transmembrane protein 232 isoform X6

    11. XM_054353085.1 → XP_054209060.1  transmembrane protein 232 isoform X4

    12. XM_054353086.1 → XP_054209061.1  transmembrane protein 232 isoform X5

    13. XM_054353090.1 → XP_054209065.1  transmembrane protein 232 isoform X8

    14. XM_054353092.1 → XP_054209067.1  transmembrane protein 232 isoform X10

    15. XM_054353084.1 → XP_054209059.1  transmembrane protein 232 isoform X3

    16. XM_054353091.1 → XP_054209066.1  transmembrane protein 232 isoform X9

    17. XM_054353095.1 → XP_054209070.1  transmembrane protein 232 isoform X13

    RNA

    1. XR_008487143.1 RNA Sequence

    2. XR_008487142.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    C9JQI7.2 GenPept UniProtKB/Swiss-Prot:C9JQI7

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