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

Gene ID: 120224, updated on 5-Mar-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 integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in duodenum (RPKM 57.4), small intestine (RPKM 54.1) and 9 other tissues See more
Orthologs
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Genomic context

Location:
11q24.3
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (129815848..129860003)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (129851489..129895715)
105.20220307 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)

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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_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_2023_10

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