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SMTNL2 smoothelin like 2 [ Homo sapiens (human) ]

Gene ID: 342527, updated on 28-Oct-2024

Summary

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Official Symbol
SMTNL2provided by HGNC
Official Full Name
smoothelin like 2provided by HGNC
Primary source
HGNC:HGNC:24764
See related
Ensembl:ENSG00000188176 AllianceGenome:HGNC:24764
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 involved in actin cytoskeleton organization. Predicted to be part of filamentous actin. Predicted to be active in microtubule organizing center. [provided by Alliance of Genome Resources, Oct 2024]
Expression
Biased expression in kidney (RPKM 11.1), prostate (RPKM 2.3) and 8 other tissues See more
Orthologs
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Genomic context

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See SMTNL2 in Genome Data Viewer
Location:
17p13.2
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (4584007..4608319)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (4473884..4498054)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (4487302..4511614)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene gamma-glutamyltransferase 6 Neighboring gene thioredoxin pseudogene 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:4485577-4486150 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:4486943-4487562 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:4487563-4488182 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:4488803-4489420 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:4496171-4496742 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:4501973-4502865 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:4502866-4503758 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:4503759-4504651 Neighboring gene long intergenic non-protein coding RNA 1996 Neighboring gene uncharacterized LOC105371498 Neighboring gene RNA, U6 small nuclear 955, pseudogene

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. Combining docking site and phosphosite predictions to find new substrates: identification of smoothelin-like-2 (SMTNL2) as a c-Jun N-terminal kinase (JNK) substrate. Gordon EA, et al. Cell Signal, 2013 Dec. PMID 23981301, Free PMC Article
  2. A Multinational Arab Genome-Wide Association Study Identifies New Genetic Associations for Rheumatoid Arthritis. Saxena R, et al. Arthritis Rheumatol, 2017 May. PMID 28118524
  3. Smoothelin-like 2 Inhibits Coronin-1B to Stabilize the Apical Actin Cortex during Epithelial Morphogenesis. Hachimi M, et al. Curr Biol, 2021 Feb 22. PMID 33275893, Free PMC Article
  4. Protein tyrosine phosphatase receptor delta acts as a neuroblastoma tumor suppressor by destabilizing the aurora kinase A oncogene. Meehan M, et al. Mol Cancer, 2012 Feb 5. PMID 22305495, Free PMC Article
  5. Comparative Protein Interaction Network Analysis Identifies Shared and Distinct Functions for the Human ROCO Proteins. Tomkins JE, et al. Proteomics, 2018 May. PMID 29513927, Free PMC Article

See all (13) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Smoothelin-like 2 Inhibits Coronin-1B to Stabilize the Apical Actin Cortex during Epithelial Morphogenesis.
    Title: Smoothelin-like 2 Inhibits Coronin-1B to Stabilize the Apical Actin Cortex during Epithelial Morphogenesis.
  2. Variants of SMTNL2 were associated with rheumatoid arthritis in an Arab population.
    Title: A Multinational Arab Genome-Wide Association Study Identifies New Genetic Associations for Rheumatoid Arthritis.
  3. Study describes a novel JNK substrate that emerged from analysis of the human genome, the functionally uncharacterized protein smoothelin-like 2 (SMTNL2). SMTNL2 protein bound with high-affinity to multiple MAPKs including JNK1-3 and ERK2; SMTNL2 protein was expressed in many mammalian tissues, with a notably high expression in skeletal muscle.
    Title: Combining docking site and phosphosite predictions to find new substrates: identification of smoothelin-like-2 (SMTNL2) as a c-Jun N-terminal kinase (JNK) substrate.
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

  • FLJ42461, MGC131847, MGC138382

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in actin cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
part_of filamentous actin IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in microtubule organizing center IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
smoothelin-like protein 2

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_001114974.2 → NP_001108446.1  smoothelin-like protein 2 isoform 1

    See identical proteins and their annotated locations for NP_001108446.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and it encodes the longer protein (isoform 1).
    Source sequence(s)
    AC118754, BC105050, BC110859, DA822419, DB557882
    Consensus CDS
    CCDS45583.1
    UniProtKB/Swiss-Prot
    Q2TAL5, Q6ZVK6
    Related
    ENSP00000373964.4, ENST00000389313.9
    Conserved Domains (2) summary
    cd00014
    Location:354 → 458
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cl01090
    Location:56 → 92
    SlyX; SlyX

  2. NM_001375361.1 → NP_001362290.1  smoothelin-like protein 2 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC118754
    Conserved Domains (2) summary
    PRK09039
    Location:8 → 84
    PRK09039; peptidoglycan -binding protein
    pfam00307
    Location:273 → 378
    CH; Calponin homology (CH) domain

  3. NM_198501.3 → NP_940903.2  smoothelin-like protein 2 isoform 2

    See identical proteins and their annotated locations for NP_940903.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting protein (isoform 2) has a shorter N-terminus when compared to isoform 1.
    Source sequence(s)
    AK124452, BC105050, BC110859, DA822419, DB557882
    Consensus CDS
    CCDS11048.1
    UniProtKB/Swiss-Prot
    Q2TAL5
    Related
    ENSP00000345143.4, ENST00000338859.8
    Conserved Domains (1) summary
    cd00014
    Location:210 → 314
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...

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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    4584007..4608319
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    4473884..4498054
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q2TAL5.1 GenPept UniProtKB/Swiss-Prot:Q2TAL5

Gene LinkOut

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