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TMEM232 transmembrane protein 232 [ Homo sapiens (human) ]

Gene ID: 642987, updated on 5-Mar-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 integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in testis (RPKM 2.0), thyroid (RPKM 0.4) and 6 other tissues See more
Orthologs
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Genomic context

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Location:
5q22.1
Exon count:
28
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (110387431..110738954, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (110898553..111249587, complement)
105.20220307 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. 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
  2. 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
  3. 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
  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 (15) 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)

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

  • 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 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 IEA
Inferred from Electronic Annotation
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
  
located_in outer dense fiber IEA
Inferred from Electronic Annotation
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_2023_10

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

Gene LinkOut

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