SPIRE2 spire type actin nucleation factor 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SPIRE2provided by HGNC
Official Full Name: spire type actin nucleation factor 2provided by HGNC
Primary source: HGNC:HGNC:30623
See related: Ensembl:ENSG00000204991 MIM:609217; AllianceGenome:HGNC:30623
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
Also known as: Spir-2
Summary: Predicted to enable microtubule binding activity. Involved in establishment of meiotic spindle localization; formin-nucleated actin cable assembly; and positive regulation of double-strand break repair. Predicted to be located in cleavage furrow. Predicted to be active in cell cortex and cytoplasmic vesicle membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in stomach (RPKM 4.5), colon (RPKM 4.1) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q24.3

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (89828475..89871319)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (95913065..95956358)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (89894883..89937727)

Chromosome 16 - NC_000016.10 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 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?

influences intracellular replication of Salmonella typhimurium
Title: A Genome-Wide siRNA Screen Implicates Spire1/2 in SipA-Driven Salmonella Typhimurium Host Cell Invasion.
This DNA damage-induced nuclear actin assembly requires two biologically and physically linked nucleation factors: Formin-2 and Spire-1/Spire-2.
Title: DNA damage induces nuclear actin filament assembly by Formin -2 and Spire-½ that promotes efficient DNA repair. [corrected].
We therefore characterized co-expressed Spir-2 and Fmn-2 fluorescent protein fusions . The data corroborate a model according to which Spir-2 exists in two different states, a cytosolic monomeric conformation and a membrane-bound state
Title: Membrane targeting of the Spir·formin actin nucleator complex requires a sequential handshake of polar interactions.
both mammalian Spir proteins, Spir-1 and Spir-2, interact with mammalian Fmn subgroup proteins formin-1 and formin-2
Title: Identification of a short Spir interaction sequence at the C-terminal end of formin subgroup proteins.

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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

D11S2921 (e-PCR)
- UniSTS:152074

GDB:434012 (e-PCR)
- UniSTS:157204

D10S275 (e-PCR)
- UniSTS:147992

RH93207 (e-PCR)
- UniSTS:86058

L17705 (e-PCR)
- UniSTS:66091

PMC156606P1 (e-PCR)
- UniSTS:271408

PMC156606P3 (e-PCR)
- UniSTS:271410

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

L18426 (e-PCR)
- UniSTS:34648

D22S1584 (e-PCR)
- UniSTS:473695

D15S1477 (e-PCR)
- UniSTS:474482

D11S3114 (e-PCR)
- UniSTS:152207

SHGC-32044 (e-PCR)
- UniSTS:39345

RH67860 (e-PCR)
- UniSTS:36596

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin binding	IEA Inferred from Electronic Annotation more info
enables microtubule binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Golgi vesicle transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in actin filament network formation	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin filament polymerization	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin nucleation	IEA Inferred from Electronic Annotation more info
involved_in cleavage furrow formation	IBA Inferred from Biological aspect of Ancestor more info
involved_in cleavage furrow formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in establishment of meiotic spindle localization	IBA Inferred from Biological aspect of Ancestor more info
involved_in establishment of meiotic spindle localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in formin-nucleated actin cable assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in formin-nucleated actin cable assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in intracellular transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in polar body extrusion after meiotic divisions	IBA Inferred from Biological aspect of Ancestor more info
involved_in polar body extrusion after meiotic divisions	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of double-strand break repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in vesicle-mediated transport	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in cell cortex	IBA Inferred from Biological aspect of Ancestor more info
located_in cell cortex	ISS Inferred from Sequence or Structural Similarity more info
colocalizes_with cleavage furrow	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cytoplasmic vesicle membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasmic vesicle membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in cytosol	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: protein spire homolog 2

Names: spire actin nucleation factor 2; spire family actin nucleation factor 2; spire homolog 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.