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    SMTNL2 smoothelin like 2 [ Homo sapiens (human) ]

    Gene ID: 342527, updated on 2-Nov-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, Nov 2024]
    Expression
    Biased expression in kidney (RPKM 11.1), prostate (RPKM 2.3) and 8 other tissues See more
    Orthologs
    mouse all
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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)

    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

    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

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

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