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 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
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

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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.

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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

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, 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
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
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 ...