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TMEM44 transmembrane protein 44 [ Homo sapiens (human) ]

Gene ID: 93109, updated on 5-Mar-2024

Summary

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Official Symbol
TMEM44provided by HGNC
Official Full Name
transmembrane protein 44provided by HGNC
Primary source
HGNC:HGNC:25120
See related
Ensembl:ENSG00000145014 AllianceGenome:HGNC:25120
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
Ubiquitous expression in colon (RPKM 1.8), placenta (RPKM 1.5) and 24 other tissues See more
Orthologs
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Genomic context

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See TMEM44 in Genome Data Viewer
Location:
3q29
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (194587678..194633419, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (197286279..197332050, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (194308407..194354148, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory regions 5224 and 9858 Neighboring gene RNA, U6 small nuclear 1101, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21027 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:194274365-194274563 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:194276967-194277466 Neighboring gene ribosomal protein L23a pseudogene 93 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:194292893-194294092 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21029 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:194304263-194304928 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21030 Neighboring gene TMEM44 antisense RNA 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:194309417-194310616 Neighboring gene uncharacterized LOC105374291 Neighboring gene Sharpr-MPRA regulatory region 9326 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:194339883-194340383 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:194343378-194343921 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15026 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:194356897-194357398 Neighboring gene TMEM44 antisense RNA 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21031 Neighboring gene large 60S subunit nuclear export GTPase 1 Neighboring gene MPRA-validated peak4980 silencer Neighboring gene uncharacterized LOC124909474 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:194395226-194396425 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21032 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21033 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:194407453-194407958 Neighboring gene family with sequence similarity 43 member A

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. Expression of genes encoding multi-transmembrane proteins in specific primate taste cell populations. Moyer BD, et al. PLoS One, 2009 Dec 4. PMID 19997627, Free PMC Article
  2. A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project. Marroni F, et al. Circ Cardiovasc Genet, 2009 Aug. PMID 20031603, Free PMC Article
  3. PELI1 Selectively Targets Kinase-Active RIP3 for Ubiquitylation-Dependent Proteasomal Degradation. Choi SW, et al. Mol Cell, 2018 Jun 7. PMID 29883609
  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. A directed protein interaction network for investigating intracellular signal transduction. Vinayagam A, et al. Sci Signal, 2011 Sep 6. PMID 21900206

See all (10) citations in PubMed

GeneRIFs: Gene References Into Functions

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 association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.
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

  • MGC131692, MGC163169, DKFZp686O18124

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 44

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_001011655.3 → NP_001011655.1  transmembrane protein 44 isoform b

    See identical proteins and their annotated locations for NP_001011655.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
    Source sequence(s)
    AC046143, AL547748, BC034353, BC144159
    Consensus CDS
    CCDS33921.1
    UniProtKB/Swiss-Prot
    Q2T9K0
    Related
    ENSP00000333355.6, ENST00000347147.9

  2. NM_001166305.2 → NP_001159777.1  transmembrane protein 44 isoform c

    See identical proteins and their annotated locations for NP_001159777.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) includes an alternate in-frame exon in the central coding but lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (c) is longer than isoform a.
    Source sequence(s)
    AC046143, AL547748, BC034353, BC111485
    Consensus CDS
    CCDS54699.1
    UniProtKB/Swiss-Prot
    A1L3V7, B7ZLZ5, B7ZLZ6, C9JJ62, E9PGA9, Q0P6F7, Q2T9K0, Q6ZT47, Q8IXR1, Q8N4G3
    Related
    ENSP00000376227.2, ENST00000392432.6

  3. NM_001166306.2 → NP_001159778.1  transmembrane protein 44 isoform d

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site and lacks an alternate exon, which results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (d) has a distinct C-terminus and is shorter than isoform a.
    Source sequence(s)
    AC046143, AI640920, AL547748, BC014883
    Consensus CDS
    CCDS54698.1
    UniProtKB/Swiss-Prot
    Q2T9K0
    Related
    ENSP00000371402.3, ENST00000381975.7

  4. NM_138399.5 → NP_612408.3  transmembrane protein 44 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes isoform a.
    Source sequence(s)
    AC046143, AL547748, BC034353, BC144158
    Consensus CDS
    CCDS3308.2
    UniProtKB/Swiss-Prot
    Q2T9K0
    Related
    ENSP00000418674.1, ENST00000473092.5

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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    194587678..194633419 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    197286279..197332050 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q2T9K0.3 GenPept UniProtKB/Swiss-Prot:Q2T9K0

Gene LinkOut

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