SMTNL2 smoothelin like 2 [Homo sapiens (human)] - Gene

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: mouse all

Genomic context

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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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

RH41994 (e-PCR)
- UniSTS:31506

NoName (e-PCR)
- UniSTS:484448

Homology

Homologs of the SMTNL2 gene: The SMTNL2 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 310 organisms have orthologs with human gene SMTNL2
Orthologs

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

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)

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

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

Status: VALIDATED

Source sequence(s)

AC118754
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: 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

NC_000017.11 Reference GRCh38.p13 Primary Assembly

Range

4584007..4608319

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006721515.2 → XP_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: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 ...