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    ARMH4 armadillo like helical domain containing 4 [ Homo sapiens (human) ]

    Gene ID: 145407, updated on 28-Oct-2024

    Summary

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    Official Symbol
    ARMH4provided by HGNC
    Official Full Name
    armadillo like helical domain containing 4provided by HGNC
    Primary source
    HGNC:HGNC:19846
    See related
    Ensembl:ENSG00000139971 AllianceGenome:HGNC:19846
    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
    UT2; C14orf37; c14_5376
    Summary
    Predicted to enable TORC2 complex binding activity. Involved in regulation of inflammatory response. Located in membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in kidney (RPKM 5.3), brain (RPKM 4.3) and 15 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ARMH4 in Genome Data Viewer
    Location:
    14q23.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (58000761..58152213, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (52207688..52359170, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (58467479..58618931, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene solute carrier family 35 member F4 Neighboring gene serine and arginine rich splicing factor 10 pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:58181078-58182074 Neighboring gene NANOG hESC enhancer GRCh37_chr14:58220473-58221005 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:58252116-58253315 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:58266137-58266636 Neighboring gene NANOG hESC enhancer GRCh37_chr14:58282822-58283323 Neighboring gene RN7SK pseudogene 99 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_34475 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_34518 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:58418179-58418679 Neighboring gene Sharpr-MPRA regulatory region 5436 Neighboring gene polycomb group ring finger 3 pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr14:58587185-58587752 Neighboring gene NANOG hESC enhancer GRCh37_chr14:58595390-58595891 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5794 Neighboring gene Sharpr-MPRA regulatory region 2203 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8440 Neighboring gene ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8441 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5797 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8442 Neighboring gene RNA, 7SL, cytoplasmic 598, pseudogene Neighboring gene actin related protein 10

    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. Identification of ARMH4 and WIPF3 as human podocyte proteins with potential roles in immunomodulation and cytoskeletal dynamics. De Luca F, et al. PLoS One, 2023. PMID 36649229, Free PMC Article
    2. Endogenous transmembrane protein UT2 inhibits pSTAT3 and suppresses hematological malignancy. Lee D, et al. J Clin Invest, 2016 Apr 1. PMID 26927669, Free PMC Article
    3. Transmembrane Inhibitor of RICTOR/mTORC2 in Hematopoietic Progenitors. Lee D, et al. Stem Cell Reports, 2014 Nov 11. PMID 25418727, Free PMC Article
    4. Lupus nephritis susceptibility loci in women with systemic lupus erythematosus. Chung SA, et al. J Am Soc Nephrol, 2014 Dec. PMID 24925725, Free PMC Article
    5. High throughput RNAi screening identifies ID1 as a synthetic sick/lethal gene interacting with the common TP53 mutation R175H. Imai H, et al. Oncol Rep, 2014 Mar. PMID 24378760, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification of ARMH4 and WIPF3 as human podocyte proteins with potential roles in immunomodulation and cytoskeletal dynamics.
      Title: Identification of ARMH4 and WIPF3 as human podocyte proteins with potential roles in immunomodulation and cytoskeletal dynamics.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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

    EBI GWAS Catalog

    Description
    Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.
    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables TORC2 complex binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of TORC2 signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of inflammatory response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    armadillo-like helical domain-containing protein 4
    Names
    uncharacterized protein C14orf37
    upstream of mTORC2
    upstream of mTORC2 protein

    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_001001872.4 → NP_001001872.2  armadillo-like helical domain-containing protein 4 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001001872.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AK292513, AL049838, BC013707, BC146861, BX161411
      Consensus CDS
      CCDS32089.1
      UniProtKB/Swiss-Prot
      A8K8Z8, Q6P5Q1, Q86TY1, Q86TY3
      UniProtKB/TrEMBL
      A8K990
      Related
      ENSP00000267485.7, ENST00000267485.7
      Conserved Domains (1) summary
      pfam15767
      Location:28 → 607
      DUF4696; Domain of unknown function (DUF4696)

    2. NM_001320173.3 → NP_001307102.1  armadillo-like helical domain-containing protein 4 isoform 2 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) includes an alternate penultimate exon, compared to variant 1, resulting in a novel 3' coding region. It encodes isoform 2 which has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AL121579, BX161448, DA126898
      UniProtKB/Swiss-Prot
      Q86TY3
      Related
      ENST00000334342.5
      Conserved Domains (1) summary
      pfam15767
      Location:28 → 604
      DUF4696; Domain of unknown function (DUF4696)

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      58000761..58152213 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      52207688..52359170 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86TY3.1 GenPept UniProtKB/Swiss-Prot:Q86TY3

    Gene LinkOut

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

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