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SMTNL2 smoothelin like 2 [ Homo sapiens (human) ]

Gene ID: 342527, updated on 4-Jun-2020

Summary

Official Symbol
SMTNL2provided by HGNC
Official Full Name
smoothelin like 2provided by HGNC
Primary source
HGNC:HGNC:24764
See related
Ensembl:ENSG00000188176
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
Expression
Biased expression in kidney (RPKM 11.1), prostate (RPKM 2.3) and 8 other tissues See more
Orthologs

Genomic context

See SMTNL2 in Genome Data Viewer
Location:
17p13.2
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (4584007..4608319)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (4487276..4511614)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene gamma-glutamyltransferase 6 Neighboring gene thioredoxin pseudogene 4 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ42461, MGC131847, MGC138382

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein phosphatase 1 binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tropomyosin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
actin cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of vasoconstriction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
I band IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
M band IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contractile fiber IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
filamentous actin IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule organizing center IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

NCBI Reference Sequences (RefSeq)

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
    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
  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: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_006721515.2XP_006721578.1  smoothelin-like protein 2 isoform X2

    See identical proteins and their annotated locations for XP_006721578.1

    UniProtKB/Swiss-Prot
    Q2TAL5
    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 ...
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