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    TMEM45B transmembrane protein 45B [ Homo sapiens (human) ]

    Gene ID: 120224, updated on 27-Nov-2024

    Summary

    Official Symbol
    TMEM45Bprovided by HGNC
    Official Full Name
    transmembrane protein 45Bprovided by HGNC
    Primary source
    HGNC:HGNC:25194
    See related
    Ensembl:ENSG00000151715 AllianceGenome:HGNC:25194
    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 innate immune response. Predicted to be located in Golgi apparatus; endosome membrane; and lysosomal membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in duodenum (RPKM 57.4), small intestine (RPKM 54.1) and 9 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TMEM45B in Genome Data Viewer
    Location:
    11q24.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (129815848..129860003)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (129851489..129895715)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (129685743..129729898)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902792 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:129619939-129620440 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:129620441-129620940 Neighboring gene uncharacterized LOC124902793 Neighboring gene Sharpr-MPRA regulatory region 8939 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:129673393-129673893 Neighboring gene TMEM45B-NFRKB intergenic CAGE-defined mid-level expression enhancer Neighboring gene ReSE screen-validated silencer GRCh37_chr11:129739277-129739466 Neighboring gene Sharpr-MPRA regulatory region 15352 Neighboring gene nuclear factor related to kappaB binding protein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4067 Neighboring gene PR/SET domain 10 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4068 Neighboring gene NANOG hESC enhancer GRCh37_chr11:129795831-129796332 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:129806281-129806994 Neighboring gene MPRA-validated peak1509 silencer Neighboring gene Sharpr-MPRA regulatory region 3666 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:129841453-129842000 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4069 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4070 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4071 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4072 Neighboring gene PRDM10 divergent transcript

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome-wide association search for type 2 diabetes genes in African Americans.
    EBI GWAS Catalog
    Genome-wide association study in east Asians identifies novel susceptibility loci for breast cancer.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ40787

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in lysosomal membrane IEA
    Inferred from Electronic Annotation
    more info
     

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001331210.2NP_001318139.1  transmembrane protein 45B

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. All four variants encode the same protein.
      Source sequence(s)
      AP003327, BU607569, HY117153
      Consensus CDS
      CCDS8482.1
      UniProtKB/Swiss-Prot
      A8K2L8, Q96B21
      Conserved Domains (1) summary
      pfam04819
      Location:117234
      DUF716; Family of unknown function (DUF716)
    2. NM_001331211.2NP_001318140.1  transmembrane protein 45B

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All four variants encode the same protein.
      Source sequence(s)
      AK098106, AP003327, BU607569, HY117153
      Consensus CDS
      CCDS8482.1
      UniProtKB/Swiss-Prot
      A8K2L8, Q96B21
      Related
      ENSP00000436293.1, ENST00000524567.1
      Conserved Domains (1) summary
      pfam04819
      Location:117234
      DUF716; Family of unknown function (DUF716)
    3. NM_001331212.2NP_001318141.1  transmembrane protein 45B

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. All four variants encode the same protein.
      Source sequence(s)
      AK098106, AP003327, BM762740, BU607569, HY117153
      Consensus CDS
      CCDS8482.1
      UniProtKB/Swiss-Prot
      A8K2L8, Q96B21
      Conserved Domains (1) summary
      pfam04819
      Location:117234
      DUF716; Family of unknown function (DUF716)
    4. NM_138788.5NP_620143.1  transmembrane protein 45B

      See identical proteins and their annotated locations for NP_620143.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All four variants encode the same protein.
      Source sequence(s)
      AK098106, AP003327, BU607569
      Consensus CDS
      CCDS8482.1
      UniProtKB/Swiss-Prot
      A8K2L8, Q96B21
      Related
      ENSP00000281441.3, ENST00000281441.8
      Conserved Domains (1) summary
      pfam04819
      Location:117234
      DUF716; Family of unknown function (DUF716)

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      129815848..129860003
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047426356.1XP_047282312.1  transmembrane protein 45B isoform X1

      UniProtKB/Swiss-Prot
      A8K2L8, Q96B21
    2. XM_047426354.1XP_047282310.1  transmembrane protein 45B isoform X1

      UniProtKB/Swiss-Prot
      A8K2L8, Q96B21
    3. XM_047426355.1XP_047282311.1  transmembrane protein 45B isoform X1

      UniProtKB/Swiss-Prot
      A8K2L8, Q96B21
    4. XM_017017188.2XP_016872677.1  transmembrane protein 45B isoform X1

      UniProtKB/Swiss-Prot
      A8K2L8, Q96B21
      Conserved Domains (1) summary
      pfam04819
      Location:117234
      DUF716; Family of unknown function (DUF716)
    5. XM_047426358.1XP_047282314.1  transmembrane protein 45B isoform X1

      UniProtKB/Swiss-Prot
      A8K2L8, Q96B21
    6. XM_047426357.1XP_047282313.1  transmembrane protein 45B isoform X1

      UniProtKB/Swiss-Prot
      A8K2L8, Q96B21

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      129851489..129895715
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054367646.1XP_054223621.1  transmembrane protein 45B isoform X1

      UniProtKB/Swiss-Prot
      A8K2L8, Q96B21
    2. XM_054367648.1XP_054223623.1  transmembrane protein 45B isoform X1

      UniProtKB/Swiss-Prot
      A8K2L8, Q96B21
    3. XM_054367647.1XP_054223622.1  transmembrane protein 45B isoform X1

      UniProtKB/Swiss-Prot
      A8K2L8, Q96B21
    4. XM_054367651.1XP_054223626.1  transmembrane protein 45B isoform X1

      UniProtKB/Swiss-Prot
      A8K2L8, Q96B21
    5. XM_054367649.1XP_054223624.1  transmembrane protein 45B isoform X1

      UniProtKB/Swiss-Prot
      A8K2L8, Q96B21
    6. XM_054367650.1XP_054223625.1  transmembrane protein 45B isoform X1

      UniProtKB/Swiss-Prot
      A8K2L8, Q96B21