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    SMTNL2 smoothelin like 2 [ Homo sapiens (human) ]

    Gene ID: 342527, updated on 5-Mar-2024

    Summary

    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 enable protein phosphatase 1 binding activity and tropomyosin binding activity. Predicted to be involved in actin cytoskeleton organization and positive regulation of vasoconstriction. Predicted to be part of filamentous actin. Predicted to be active in I band; M band; and microtubule organizing center. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in kidney (RPKM 11.1), prostate (RPKM 2.3) and 8 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    Location:
    17p13.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (4584007..4608319)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (4473884..4498054)
    105.20220307 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001114974.2NP_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:354458
      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:5692
      SlyX; SlyX
    2. NM_001375361.1NP_001362290.1  smoothelin-like protein 2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC118754
      Conserved Domains (2) summary
      PRK09039
      Location:884
      PRK09039; peptidoglycan -binding protein
      pfam00307
      Location:273378
      CH; Calponin homology (CH) domain
    3. NM_198501.3NP_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:210314
      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_2023_10

    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)