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

Gene ID: 55321, updated on 5-Mar-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 integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in small intestine (RPKM 4.2), lung (RPKM 3.7) and 21 other tissues See more
Orthologs
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Genomic context

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Location:
20p13
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (1180570..1189409, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (1227788..1236631, complement)
105.20220307 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
  • 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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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_2023_10

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

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