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    TAGLN3 transgelin 3 [ Homo sapiens (human) ]

    Gene ID: 29114, updated on 7-Apr-2024

    Summary

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    Official Symbol
    TAGLN3provided by HGNC
    Official Full Name
    transgelin 3provided by HGNC
    Primary source
    HGNC:HGNC:29868
    See related
    Ensembl:ENSG00000144834 MIM:607953; AllianceGenome:HGNC:29868
    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
    NP22; NP24; NP25
    Summary
    Predicted to be involved in central nervous system development. Predicted to act upstream of or within negative regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. Predicted to be active in cytoskeleton. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Restricted expression toward brain (RPKM 97.4) See more
    Orthologs
    mouse all
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    Genomic context

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    See TAGLN3 in Genome Data Viewer
    Location:
    3q13.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (111998922..112013885)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (114720030..114734995)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (111717769..111732732)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene pleckstrin homology like domain family B member 2 Neighboring gene uncharacterized LOC124906336 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:111637713-111638912 Neighboring gene Sharpr-MPRA regulatory region 1117 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:111697515-111698074 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20229 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:111704853-111705354 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:111705355-111705854 Neighboring gene NANOG hESC enhancer GRCh37_chr3:111719684-111720311 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:111720792-111721991 Neighboring gene abhydrolase domain containing 10, depalmitoylase Neighboring gene riboflavin kinase-like Neighboring gene riboflavin kinase pseudogene 2

    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 human neuronal protein 22, a novel cytoskeleton-associated protein, was decreased in the anterior cingulate cortex of schizophrenia. Ito M, et al. Neurosci Lett, 2005 Apr 22. PMID 15781144
    2. Expression of hNP22 is altered in the frontal cortex and hippocampus of the alcoholic human brain. Depaz I, et al. Alcohol Clin Exp Res, 2003 Sep. PMID 14506410
    3. Molecular cloning and characterization of hNP22: a gene up-regulated in human alcoholic brain. Fan L, et al. J Neurochem, 2001 Mar. PMID 11238712
    4. The identification of NP25: a novel protein that is differentially expressed by neuronal subpopulations. Ren WZ, et al. Brain Res Mol Brain Res, 1994 Mar. PMID 8015377
    5. Expressed sequence tag analysis of human retina for the NEIBank Project: retbindin, an abundant, novel retinal cDNA and alternative splicing of other retina-preferred gene transcripts. Wistow G, et al. Mol Vis, 2002 Jun 15. PMID 12107411

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Western blots revealed a significant increase in hNP22 protein levels in the frontal cortex but not the motor cortex of alcoholic cases.
      Title: Expression of hNP22 is altered in the frontal cortex and hippocampus of the alcoholic human brain.
    2. Altered expression of hNP22 may be associated with modifications in neuronal cytoarchitecture leading to dysregulation of neural signal transduction in the anterior cingulate cortex of the schizophrenia brain.
      Title: Expression of human neuronal protein 22, a novel cytoskeleton-associated protein, was decreased in the anterior cingulate cortex of schizophrenia.
    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in actin filament organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in central nervous system development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in actin cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transgelin-3
    Names
    neuronal protein 22
    neuronal protein NP25

    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_001008272.2 → NP_001008273.1  transgelin-3

      See identical proteins and their annotated locations for NP_001008273.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      BC015329, BI752099, BM894229
      Consensus CDS
      CCDS33816.1
      UniProtKB/Swiss-Prot
      D3DN64, Q96A74, Q9UI15
      UniProtKB/TrEMBL
      Q7Z517
      Related
      ENSP00000419105.1, ENST00000478951.6
      Conserved Domains (2) summary
      pfam00402
      Location:174 → 198
      Calponin; Calponin family repeat
      cd21281
      Location:23 → 141
      CH_TAGLN3; calponin homology (CH) domain found in transgelin-3

    2. NM_001008273.2 → NP_001008274.1  transgelin-3

      See identical proteins and their annotated locations for NP_001008274.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      BG912462, BI822856, BM894229, CK003985
      Consensus CDS
      CCDS33816.1
      UniProtKB/Swiss-Prot
      D3DN64, Q96A74, Q9UI15
      UniProtKB/TrEMBL
      Q7Z517
      Related
      ENSP00000391160.2, ENST00000455401.6
      Conserved Domains (2) summary
      pfam00402
      Location:174 → 198
      Calponin; Calponin family repeat
      cd21281
      Location:23 → 141
      CH_TAGLN3; calponin homology (CH) domain found in transgelin-3

    3. NM_013259.3 → NP_037391.2  transgelin-3

      See identical proteins and their annotated locations for NP_037391.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AF112201, BI919263, BM894229, BQ640029
      Consensus CDS
      CCDS33816.1
      UniProtKB/Swiss-Prot
      D3DN64, Q96A74, Q9UI15
      UniProtKB/TrEMBL
      Q7Z517
      Related
      ENSP00000377494.2, ENST00000393917.6
      Conserved Domains (2) summary
      pfam00402
      Location:174 → 198
      Calponin; Calponin family repeat
      cd21281
      Location:23 → 141
      CH_TAGLN3; calponin homology (CH) domain found in transgelin-3

    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
      111998922..112013885
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      114720030..114734995
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UI15.2 GenPept UniProtKB/Swiss-Prot:Q9UI15

    Gene LinkOut

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

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