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    TMEM74B transmembrane protein 74B [ Homo sapiens (human) ]

    Gene ID: 55321, updated on 28-Oct-2024

    Summary

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    Official Symbol
    TMEM74Bprovided by HGNC
    Official Full Name
    transmembrane protein 74Bprovided by HGNC
    Primary source
    HGNC:HGNC:15893
    See related
    Ensembl:ENSG00000125895 AllianceGenome:HGNC:15893
    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
    Also known as
    C20orf46
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in small intestine (RPKM 4.2), lung (RPKM 3.7) and 21 other tissues See more
    Orthologs
    mouse all
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    Try the new Transcript table

    Genomic context

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    See TMEM74B in Genome Data Viewer
    Location:
    20p13
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (1180570..1189409, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (1227788..1236631, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (1161214..1166564, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene proteasome inhibitor subunit 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:1141197-1141698 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17455 Neighboring gene actin gamma 1 pseudogene 3 Neighboring gene Sharpr-MPRA regulatory region 3766 Neighboring gene uncharacterized LOC124904855 Neighboring gene chromosome 20 open reading frame 202 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12587 Neighboring gene RAD21 cohesin complex component like 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 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. Replication of top markers of a genome-wide association study in multiple sclerosis in Spain. Cavanillas ML, et al. Genes Immun, 2011 Mar. PMID 20944657
    2. Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening. Wu C, et al. Proteomics, 2007 Jun. PMID 17474147
    3. The DNA sequence and comparative analysis of human chromosome 20. Deloukas P, et al. Nature, 2001 Dec 20-27. PMID 11780052
    4. SUMOylation of DDX39A Alters Binding and Export of Antiviral Transcripts to Control Innate Immunity. Shi P, et al. J Immunol, 2020 Jul 1. PMID 32393512
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Replication of top markers of a genome-wide association study in multiple sclerosis in Spain.
    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

    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

    • FLJ11190, FLJ44889

    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 74B
    Names
    transmembrane protein C20orf46

    NCBI Reference Sequences (RefSeq)

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    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_001304748.2 → NP_001291677.1  transmembrane protein 74B isoform 1

      See identical proteins and their annotated locations for NP_001291677.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 5-9 all encode the same isoform (1).
      Source sequence(s)
      AL031665
      Consensus CDS
      CCDS13011.1
      UniProtKB/Swiss-Prot
      D3DVW5, Q9NUR3
      Related
      ENSP00000400552.2, ENST00000429036.2
      Conserved Domains (1) summary
      PRK14954
      Location:15 → 175
      PRK14954; DNA polymerase III subunits gamma and tau; Provisional

    2. NM_001304749.2 → NP_001291678.1  transmembrane protein 74B isoform 2

      See identical proteins and their annotated locations for NP_001291678.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1. Variants 3 and 4 both encode the same isoform (2).
      Source sequence(s)
      AA861530, AK002052, AL031665, AW628999
      UniProtKB/Swiss-Prot
      Q9NUR3
      Conserved Domains (1) summary
      pfam14927
      Location:99 → 164
      Neurensin; Neurensin

    3. NM_001387329.1 → NP_001374258.1  transmembrane protein 74B isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4), as well as variant 3, encodes isoform 2.
      Source sequence(s)
      AL031665

    4. NM_001387330.1 → NP_001374259.1  transmembrane protein 74B isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 5-9 all encode the same isoform (1).
      Source sequence(s)
      AL031665
      Consensus CDS
      CCDS13011.1
      UniProtKB/Swiss-Prot
      D3DVW5, Q9NUR3

    5. NM_001387331.1 → NP_001374260.1  transmembrane protein 74B isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 5-9 all encode the same isoform (1).
      Source sequence(s)
      AL031665
      Consensus CDS
      CCDS13011.1
      UniProtKB/Swiss-Prot
      D3DVW5, Q9NUR3

    6. NM_001387332.1 → NP_001374261.1  transmembrane protein 74B isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 5-9 all encode the same isoform (1).
      Source sequence(s)
      AL031665
      Consensus CDS
      CCDS13011.1
      UniProtKB/Swiss-Prot
      D3DVW5, Q9NUR3

    7. NM_001387333.1 → NP_001374262.1  transmembrane protein 74B isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 5-9 all encode the same isoform (1).
      Source sequence(s)
      AL031665
      Consensus CDS
      CCDS13011.1
      UniProtKB/Swiss-Prot
      D3DVW5, Q9NUR3

    8. NM_001387334.1 → NP_001374263.1  transmembrane protein 74B isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 5-9 all encode the same isoform (1).
      Source sequence(s)
      AL031665
      Consensus CDS
      CCDS13011.1
      UniProtKB/Swiss-Prot
      D3DVW5, Q9NUR3

    9. NM_018354.3 → NP_060824.1  transmembrane protein 74B isoform 1

      See identical proteins and their annotated locations for NP_060824.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1, 2, and 5-9 all encode the same isoform (1).
      Source sequence(s)
      AL031665
      Consensus CDS
      CCDS13011.1
      UniProtKB/Swiss-Prot
      D3DVW5, Q9NUR3
      Related
      ENSP00000371318.3, ENST00000381894.3
      Conserved Domains (1) summary
      PRK14954
      Location:15 → 175
      PRK14954; DNA polymerase III subunits gamma and tau; Provisional

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      1180570..1189409 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011529281.3 → XP_011527583.1  transmembrane protein 74B isoform X1

      Conserved Domains (1) summary
      COG5182
      Location:66 → 168
      CUS1; Splicing factor 3b, subunit 2 [RNA processing and modification]

    2. XM_017027923.2 → XP_016883412.1  transmembrane protein 74B isoform X2

    3. XM_017027924.2 → XP_016883413.1  transmembrane protein 74B isoform X3

      UniProtKB/Swiss-Prot
      D3DVW5, Q9NUR3
      Conserved Domains (1) summary
      PRK14954
      Location:15 → 175
      PRK14954; DNA polymerase III subunits gamma and tau; Provisional

    4. XM_047440257.1 → XP_047296213.1  transmembrane protein 74B isoform X3

      UniProtKB/Swiss-Prot
      D3DVW5, Q9NUR3

    5. XM_017027925.2 → XP_016883414.1  transmembrane protein 74B isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      1227788..1236631 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323618.1 → XP_054179593.1  transmembrane protein 74B isoform X5

    2. XM_054323619.1 → XP_054179594.1  transmembrane protein 74B isoform X1

    3. XM_054323620.1 → XP_054179595.1  transmembrane protein 74B isoform X2

    4. XM_054323621.1 → XP_054179596.1  transmembrane protein 74B isoform X3

      UniProtKB/Swiss-Prot
      D3DVW5, Q9NUR3

    5. XM_054323623.1 → XP_054179598.1  transmembrane protein 74B isoform X3

      UniProtKB/Swiss-Prot
      D3DVW5, Q9NUR3

    6. XM_054323622.1 → XP_054179597.1  transmembrane protein 74B isoform X3

      UniProtKB/Swiss-Prot
      D3DVW5, Q9NUR3

    7. XM_054323624.1 → XP_054179599.1  transmembrane protein 74B isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NUR3.1 GenPept UniProtKB/Swiss-Prot:Q9NUR3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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