Mfsd12 major facilitator superfamily domain containing 12 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mfsd12provided by MGI
Official Full Name: major facilitator superfamily domain containing 12provided by MGI
Primary source: MGI:MGI:3604804
See related: Ensembl:ENSMUSG00000034854 AllianceGenome:MGI:3604804
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: gr; Wdt1; C19orf28; F630110N24Rik
Summary: Predicted to enable cysteine transmembrane transporter activity. Involved in negative regulation of melanin biosynthetic process and pigment metabolic process involved in pigmentation. Acts upstream of or within hair follicle development and pigmentation. Predicted to be located in late endosome; lysosome; and melanosome. Predicted to be active in plasma membrane. Is expressed in thymus primordium. Orthologous to human MFSD12 (major facilitator superfamily domain containing 12). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in stomach adult (RPKM 36.7), testis adult (RPKM 36.3) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 10 C1; 10 39.72 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (81193325..81202059)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (81357491..81366225)

Chromosome 10 - NC_000076.7 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?

The MFSD12 p.Tyr182His common variant is sufficient to alter mouse agouti coat color.
Title: The MFSD12 p.Tyr182His common variant is sufficient to alter mouse agouti coat color.

Submit: New GeneRIF Correction

Phenotypes

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Associated conditions

Description	Tests
grizzled GeneReviews: Not available

Variation

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Alleles

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

Endonuclease-mediated (2) 1 citation
Gene trapped (1)
Spontaneous (1)

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables cysteine transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables cysteine transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables cysteine transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables symporter activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in carbohydrate transport	IEA Inferred from Electronic Annotation more info
involved_in cysteine transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in cysteine transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in cysteine transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within hair follicle development	IMP Inferred from Mutant Phenotype more info
involved_in melanin biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of melanin biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in pigment metabolic process involved in pigmentation	IBA Inferred from Biological aspect of Ancestor more info
involved_in pigment metabolic process involved in pigmentation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in pigment metabolic process involved in pigmentation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within pigmentation	IMP Inferred from Mutant Phenotype more info
involved_in regulation of melanin biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of melanin biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of melanin biosynthetic process	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in late endosome	IEA Inferred from Electronic Annotation more info
located_in late endosome	ISO Inferred from Sequence Orthology more info
located_in lysosomal membrane	IEA Inferred from Electronic Annotation more info
located_in lysosome	ISO Inferred from Sequence Orthology more info
located_in lysosome	ISS Inferred from Sequence or Structural Similarity more info
located_in melanosome	ISO Inferred from Sequence Orthology more info
located_in melanosome membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: major facilitator superfamily domain-containing protein 12

Names: protein grizzled

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_028657.4 → NP_082933.2 major facilitator superfamily domain-containing protein 12

See identical proteins and their annotated locations for NP_082933.2

Status: VALIDATED

Source sequence(s)

AC155937, AI852143, AK149678, BC119790

Consensus CDS

CCDS35996.1

UniProtKB/Swiss-Prot

Q3U376, Q3U481

Related

ENSMUSP00000036116.9, ENSMUST00000044844.9

Conserved Domains (2) summary

cd06174
Location:267 → 422

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:21 → 419

MFS_2; MFS/sugar transport protein

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_000076.7 Reference GRCm39 C57BL/6J

Range

81193325..81202059

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006514219.4 → XP_006514282.1 major facilitator superfamily domain-containing protein 12 isoform X1

Conserved Domains (1) summary

cd17491
Location:21 → 426

MFS_MFSD12; Major facilitator superfamily domain-containing protein 12