Spef2 sperm flagellar 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Spef2provided by MGI
Official Full Name: sperm flagellar 2provided by MGI
Primary source: MGI:MGI:2443727
See related: Ensembl:ENSMUSG00000072663 AllianceGenome:MGI:2443727
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: C230086A09Rik
Summary: Acts upstream of or within several processes, including brain morphogenesis; epithelial cilium movement involved in extracellular fluid movement; and sperm axoneme assembly. Located in Golgi apparatus; manchette; and sperm midpiece. Used to study primary ciliary dyskinesia. Human ortholog(s) of this gene implicated in spermatogenic failure 43. Orthologous to human SPEF2 (sperm flagellar 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in testis adult (RPKM 1.1), lung adult (RPKM 0.2) and 9 other tissues See more
Orthologs: human all
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Genomic context

Location:: 15 A1; 15 4.24 cM

Exon count:: 42

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (9578279..9748954, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (9578193..9748868, complement)

Chromosome 15 - NC_000081.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Genetic interaction between central pair apparatus genes CFAP221, CFAP54, and SPEF2 in mouse models of primary ciliary dyskinesia.
Title: Genetic interaction between central pair apparatus genes CFAP221, CFAP54, and SPEF2 in mouse models of primary ciliary dyskinesia.
Mutations in SPEF2 are associated with multiple morphological abnormalities of the sperm flagella and primary ciliary dyskinesia.
Title: Novel mutations in SPEF2 causing different defects between flagella and cilia bridge: the phenotypic link between MMAF and PCD.
Investigated the function of SPEF2 during spermatogenesis using a male germ cell-specific Spef2 knockout model. In addition to defects in sperm tail development, we observed a duplication of the basal body and failure in manchette migration resulting in an abnormal head shape.
Title: SPEF2 functions in microtubule-mediated transport in elongating spermatids to ensure proper male germ cell differentiation.
Data indicate that SPEF2 is required for cilia function/motility; defect in SPEF2 results in primary ciliary dyskinesia. SPEF2 plays important role in spermatogenesis and sperm flagellum assembly. (base/AA sequence data submitted to GenBank)
Title: Loss of SPEF2 function in mice results in spermatogenesis defects and primary ciliary dyskinesia.
The crucial importance of SPEF2 in sperm differentiation and involvement of SPEF2 in structuring of the sperm tail.
Title: Expression of SPEF2 during mouse spermatogenesis and identification of IFT20 as an interacting protein.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (1)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:237264

D15Mit11 (e-PCR), detects polymorphism
- UniSTS:127468

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within brain morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cerebrospinal fluid circulation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within epithelial cilium movement involved in extracellular fluid movement	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within establishment of localization in cell	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within mucociliary clearance	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within mucociliary clearance	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within respiratory system development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skeletal system morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sperm axoneme assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within sperm axoneme assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sperm axoneme assembly	ISO Inferred from Sequence Orthology more info
involved_in sperm axoneme assembly	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within sperm flagellum assembly	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within spermatogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	IEA Inferred from Electronic Annotation more info
is_active_in manchette	IBA Inferred from Biological aspect of Ancestor more info
located_in manchette	IDA Inferred from Direct Assay more info	PubMed
located_in sperm flagellum	ISO Inferred from Sequence Orthology more info
located_in sperm flagellum	ISS Inferred from Sequence or Structural Similarity more info
is_active_in sperm midpiece	IBA Inferred from Biological aspect of Ancestor more info
located_in sperm midpiece	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: sperm flagellar 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_001305042.1 → NP_001291971.1 sperm flagellar protein 2 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC133959, AK048961, AV253706, HQ856050

UniProtKB/Swiss-Prot

A2RSG5, E0CYG3, G0Z098, Q8C9J3

Related

ENSMUSP00000124222.2, ENSMUST00000160236.8

Conserved Domains (2) summary

pfam06294
Location:6 → 97

CH_2; CH-like domain in sperm protein

cl17190
Location:673 → 857

NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...
NM_001305044.1 → NP_001291973.1 sperm flagellar protein 2 isoform 3

See identical proteins and their annotated locations for NP_001291973.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks numerous 3' exons and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. It encodes isoform 3 which is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC133586, AK041992, AK048961

Consensus CDS

CCDS84163.1

UniProtKB/TrEMBL

E0CY95

Related

ENSMUSP00000124723.2, ENSMUST00000159368.2

Conserved Domains (1) summary

pfam06294
Location:6 → 97

CH_2; CH-like domain in sperm protein
NM_177123.4 → NP_796097.2 sperm flagellar protein 2 isoform 2

See identical proteins and their annotated locations for NP_796097.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks numerous 3' exons and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. It encodes isoform 2 which is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC133959, AK048961

Consensus CDS

CCDS37041.1

UniProtKB/Swiss-Prot

Q8C9J3

Related

ENSMUSP00000035762.8, ENSMUST00000041840.14

Conserved Domains (2) summary

pfam06294
Location:6 → 97

CH_2; CH-like domain in sperm protein

cl17190
Location:616 → 800

NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000081.7 Reference GRCm39 C57BL/6J

Range

9578279..9748954 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017316668.1 → XP_017172157.1 sperm flagellar protein 2 isoform X2

Conserved Domains (2) summary

smart00597
Location:804 → 869

ZnF_TTF; zinc finger in transposases and transcription factors

cl17190
Location:2 → 186

NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...
XM_017316667.1 → XP_017172156.1 sperm flagellar protein 2 isoform X1

Conserved Domains (2) summary

smart00597
Location:821 → 886

ZnF_TTF; zinc finger in transposases and transcription factors

cl17190
Location:2 → 186

NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...