sv shaven [Drosophila melanogaster (fruit fly)] - Gene

Summary

Official Symbol: svprovided by FlyBase
Official Full Name: shavenprovided by FlyBase
Primary source: FLYBASE:FBgn0005561
Locus tag: Dmel_CG11049
See related: AllianceGenome:FB:FBgn0005561
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Drosophila melanogaster
Lineage: Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota; Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea; Drosophilidae; Drosophila; Sophophora
Also known as: Cat; CG11049; D-pax-2; d-Pax2; D-pax2; D-Pax2; Dmel\CG11049; Dpax-2; DPax-2; dPax2; Dpax2; DPax2; dPax258; en(lz)4G/I; l(4)40; Pax2; PAX2; Pax2/5/8; pax2/sparkling; Pax258; pol; shaven/sparkling; spa; spa-sv; Sv
Summary: Enables DNA-binding transcription factor activity, RNA polymerase II-specific and cis-regulatory region sequence-specific DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II; regulation of R7 cell differentiation; and regulation of compound eye cone cell fate specification. Located in nucleus. Is expressed in several structures, including embryonic supraesophageal neuromere; imaginal disc; neurogenic region; sense organ; and sensory nervous system primordium. Human ortholog(s) of this gene implicated in acute lymphoblastic leukemia; congenital hypothyroidism (multiple); focal segmental glomerulosclerosis 7; renal Wilms' tumor; and renal coloboma syndrome. Orthologous to human PAX2 (paired box 2); PAX5 (paired box 5); and PAX8 (paired box 8). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: all
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Genomic context

Location:: 102F8-102F8; 4-0 cM

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
Release 6.54	current	Release 6 plus ISO1 MT (GCF_000001215.4)	4	NC_004353.4 (1088798..1113317)
Release 5.57	previous assembly	Release 5 (GCF_000001215.2)	4	NC_004353.3 (1109424..1133943)

Chromosome 4 - NC_004353.4 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Loss of Bar from the undifferentiated retinal precursor cells leads to ectopic expression of Prospero and dPax2, two transcription factors essential for cone cell specification, resulting in excess cone cell differentiation.
Title: Bar represses dPax2 and decapentaplegic to regulate cell fate and morphogenetic cell death in Drosophila eye.
Data demonstrate that early activation of D-Pax2 in the sensory organ lineage and its maintenance in the trichogen and thecogen cells are governed by separate enhancers.
Title: Discrete regulatory regions control early and late expression of D-Pax2 during external sensory organ development.
examine in detail the structure and function of sparkling, a Notch- and EGFR/MAPK-regulated, cone cell-specific enhancer of the Pax2 gene, in vivo
Title: Structural rules and complex regulatory circuitry constrain expression of a Notch- and EGFR-regulated eye enhancer.
Data show that D-Pax2 plays a significant role in lens development through regulation of the Crystallin gene and because Crystallin is also expressed in D-Pax2(+) cells in the external sensory organs.
Title: The transcription factor D-Pax2 regulates crystallin production during eye development in Drosophila melanogaster.
The ectopic cell death evident in D-Pax2 mutants appears to arise from the cell fate transformation of cone cells into secondary pigment cells, either autonomously or as a result of defective signalling.
Title: Mutations in lozenge and D-Pax2 invoke ectopic patterned cell death in the developing Drosophila eye using distinct mechanisms.
Mutational inactivation of otd/Otx2 and unpg/Gbx2 result in the loss or misplacement of the brain-specific expression domains of Pax2/5/8 and Hox genes.
Title: An urbilaterian origin of the tripartite brain: developmental genetic insights from Drosophila.

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Homology

NCBI Orthologs

Orthologs from OrthoDB

mobile_element

Loc: 1089667-1090282 mobile_element_type = transposon:INE-1{}5435
Loc: 1090459-1090518 mobile_element_type = transposon:INE-1{}3413
Loc: 1091315-1091554 mobile_element_type = transposon:INE-1{}3416
Loc: 1093619-1093717 mobile_element_type = transposon:INE-1{}3431
Loc: 1093721-1093850 mobile_element_type = transposon:INE-1{}3432
Loc: 1094943-1095235 mobile_element_type = transposon:INE-1{}3433
Loc: 1100538-1100615 mobile_element_type = transposon:INE-1{}3437
Loc: 1103395-1103478 mobile_element_type = transposon:INE-1{}3440

Gene Ontology Provided by FlyBase

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in brain development	IBA Inferred from Biological aspect of Ancestor more info
involved_in compound eye cone cell fate commitment	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in regulation of R7 cell differentiation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of R7 cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of compound eye cone cell fate specification	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of compound eye cone cell fate specification	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in sensory organ development	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: shaven

Names: CG11049-PA; CG11049-PC; CG11049-PD; CG11049-PF; CG11049-PG; CG11049-PH; CG11049-PI; cataract; poliert; sparklin poliert; sparkling; sparkling poliert; sv-PA; sv-PC; sv-PD; sv-PF; sv-PG; sv-PH; sv-PI

NCBI Reference Sequences (RefSeq)

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Genome Annotation

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

Reference assembly

Genomic

NC_004353.4 Reference assembly

Range

1088798..1113317

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_079894.4 → NP_524633.3 shaven, isoform A [Drosophila melanogaster]

Status: REVIEWED

UniProtKB/TrEMBL

O16117

Related

FBpp0088366

Conserved Domains (1) summary

smart00351
Location:175 → 299

PAX; Paired Box domain
NM_001014701.2 → NP_001014701.1 shaven, isoform D [Drosophila melanogaster]

Status: REVIEWED

UniProtKB/TrEMBL

Q59DP0

Conserved Domains (1) summary

smart00351
Location:175 → 299

PAX; Paired Box domain
NM_166822.4 → NP_726645.3 shaven, isoform C [Drosophila melanogaster]

Status: REVIEWED

UniProtKB/TrEMBL

Q8IM96

Related

FBpp0088367

Conserved Domains (1) summary

smart00351
Location:175 → 299

PAX; Paired Box domain
NM_001014697.2 → NP_001014697.1 shaven, isoform H [Drosophila melanogaster]

Status: REVIEWED

UniProtKB/TrEMBL

Q59DN9

Conserved Domains (1) summary

smart00351
Location:175 → 299

PAX; Paired Box domain
NM_001014699.3 → NP_001014699.1 shaven, isoform F [Drosophila melanogaster]

Status: REVIEWED

UniProtKB/TrEMBL

Q59DN8

Conserved Domains (1) summary

smart00351
Location:175 → 299

PAX; Paired Box domain
NM_001014698.3 → NP_001014698.1 shaven, isoform G [Drosophila melanogaster]

Status: REVIEWED

UniProtKB/TrEMBL

Q59DN7

Conserved Domains (1) summary

smart00351
Location:175 → 299

PAX; Paired Box domain
NM_001169363.2 → NP_001162834.1 shaven, isoform I [Drosophila melanogaster]

Status: REVIEWED

UniProtKB/TrEMBL

D1YSG9, O16804

Conserved Domains (1) summary

smart00351
Location:20 → 143

PAX; Paired Box domain