slc45a2 solute carrier family 45 member 2 [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: slc45a2provided by ZNC
Official Full Name: solute carrier family 45 member 2provided by ZNC
Primary source: ZFIN:ZDB-GENE-050208-97
See related: Ensembl:ENSDARG00000002593 AllianceGenome:ZFIN:ZDB-GENE-050208-97
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: aim1; im:7138762
Summary: Predicted to enable sucrose:proton symporter activity. Acts upstream of or within melanocyte differentiation and response to light stimulus. Predicted to be integral component of membrane. Predicted to be active in membrane. Is expressed in several structures, including melanoblast; optic vesicle; pigment cell; presumptive retinal pigmented epithelium; and retina. Used to study cataract. Human ortholog(s) of this gene implicated in oculocutaneous albinism type IV and pigmentation disease. Orthologous to human SLC45A2 (solute carrier family 45 member 2). [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 21

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
106	current	GRCz11 (GCF_000002035.6)	21	NC_007132.7 (19445942..19484289)
105	previous assembly	GRCz10 (GCF_000002035.5)	21	NC_007132.6 (19409306..19447653)

Chromosome 21 - NC_007132.7 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: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

To gain understanding of the role of Slc45a2 and its possible interactions with other proteins involved in melanization, the role of the V-ATPase as a melanosomal acidifier, was analyzed.
Title: Slc45a2 and V-ATPase are regulators of melanosomal pH homeostasis in zebrafish, providing a mechanism for human pigment evolution and disease.
Zebrafish albino fish are mutant in slc45a2; wild-type slc45a2 mRNA rescued the albino mutant phenotype.
Title: Functional assessment of human coding mutations affecting skin pigmentation using zebrafish.

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General gene information

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Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables sucrose:proton symporter activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within developmental pigmentation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within melanocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within pigmentation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to light stimulus	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: membrane-associated transporter protein

Names: B; absent in melanoma 1; alb; albino; oca4

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.