Slc45a2 solute carrier family 45, member 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Slc45a2provided by MGI
Official Full Name: solute carrier family 45, member 2provided by MGI
Primary source: MGI:MGI:2153040
See related: Ensembl:ENSMUSG00000022243 AllianceGenome:MGI:2153040
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: uw; Dbr; bls; Aim1; Matp; Oca4; Aim-1; blanc-sale
Summary: Enables sucrose:proton symporter activity. Acts upstream of or within developmental pigmentation and sucrose transport. Predicted to be integral component of membrane. Predicted to be active in membrane. Is expressed in brain; embryo ectoderm; eye; mesenchyme derived from neural crest; and skin. Used to study oculocutaneous albinism. 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]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

Location:: 15 A1; 15 5.4 cM

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (11000807..11029319)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (11000721..11029233)

Chromosome 15 - NC_000081.7 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: 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?

mRNA expression of SLC45A2 in eyes and skin and of SLC45A3 primarily in the prostate, but also in other tissues, whereas SLC45A4 showed a predominantly ubiquitous expression
Title: Proton-associated sucrose transport of mammalian solute carrier family 45: an analysis in Saccharomyces cerevisiae.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Chemically induced (ENU) (12)
Spontaneous (7) 1 citation
Endonuclease-mediated (3)
Targeted (1) 1 citation

General gene information

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Markers

Slc45a2 (e-PCR), detects polymorphism
- UniSTS:547116

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables glucose:proton symporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sucrose:proton symporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables sucrose:proton symporter activity	IDA Inferred from Direct Assay more info	PubMed
enables symporter activity	IEA Inferred from Electronic Annotation more info
enables transmembrane transporter activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within developmental pigmentation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in developmental pigmentation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lysosomal lumen pH elevation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lysosomal lumen pH elevation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within melanin biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in melanin biosynthetic process from tyrosine	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in melanin biosynthetic process from tyrosine	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to stimulus	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within sucrose transport	IDA Inferred from Direct Assay more info	PubMed
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within visual perception	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in melanosome membrane	ISO Inferred from Sequence Orthology more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: membrane-associated transporter protein

Names: B/AIM-1-like protein; dominant brown; melanoma antigen AIM1; protein AIM-1; protein underwhite

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_053077.3 → NP_444307.1 membrane-associated transporter protein

See identical proteins and their annotated locations for NP_444307.1

Status: VALIDATED

Source sequence(s)

AK029155

Consensus CDS

CCDS27382.1

UniProtKB/Swiss-Prot

P58355

UniProtKB/TrEMBL

D3YWT7, Q541S3, Q8C204

Related

ENSMUSP00000112408.3, ENSMUST00000117100.4

Conserved Domains (2) summary

cd06174
Location:39 → 231

MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...

pfam13347
Location:36 → 524

MFS_2; MFS/sugar transport protein