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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
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Genomic context

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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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