Human Gene M6PR (ENST00000000412.3) from GENCODE V47lift37

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Description: mannose-6-phosphate receptor, cation dependent (from HGNC M6PR)
Gencode Transcript: ENST00000000412.3
Gencode Gene: ENSG00000003056.3
Transcript (Including UTRs)
Position: hg19 chr12:9,092,961-9,102,551 Size: 9,591 Total Exon Count: 7 Strand: -
Coding Region
Position: hg19 chr12:9,094,414-9,099,000 Size: 4,587 Coding Exon Count: 6

Page Index	Sequence and Links	Primers	MalaCards	CTD	Gene Alleles
RNA-Seq Expression	Microarray Expression	RNA Structure	Protein Structure	Other Species	GO Annotations
mRNA Descriptions	Other Names	Model Information	Methods

Data last updated at UCSC: 2024-08-22 23:36:26

Sequence and Links to Tools and Databases

Genomic Sequence (chr12:9,092,961-9,102,551)			mRNA (may differ from genome)		Protein (277 aa)
Gene Sorter	Genome Browser	Other Species FASTA	VisiGene	Gene interactions	Table Schema
AlphaFold	BioGPS	Ensembl	Entrez Gene	ExonPrimer	GeneCards
HGNC	Malacards	MGI	OMIM	PubMed	UniProtKB
Wikipedia	BioGrid CRISPR DB

Primer design for this transcript

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3

MalaCards Disease Associations


	MalaCards Gene Search: M6PR Diseases sorted by gene-association score: niemann-pick disease (6), neuronal ceroid lipofuscinosis (3), mucolipidosis ii alpha/beta (3), mucopolysaccharidosis type iiia (3)

Comparative Toxicogenomics Database (CTD)


	The following chemicals interact with this gene D013749 Tetrachlorodibenzodioxin D015655 1-Methyl-4-phenylpyridinium C111118 2',3,3',4',5-pentachloro-4-hydroxybiphenyl C085911 2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one D000082 Acetaminophen D016604 Aflatoxin B1 D001564 Benzo(a)pyrene D002738 Chloroquine D019327 Copper Sulfate D004147 Dioxins more ... click here to view the complete list

Common Gene Haplotype Alleles


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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)


	Highest median expression: 48.28 RPKM in Cells - EBV-transformed lymphocytes Total median expression: 764.12 RPKM View in GTEx track of Genome Browser View at GTEx portal View GTEx Body Map

Microarray Expression Data


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mRNA Secondary Structure of 3' and 5' UTRs

Region	Fold Energy	Bases	Energy/Base	Display As
5' UTR	-201.00	469	-0.429	Picture	PostScript	Text
3' UTR	-393.60	1453	-0.271	Picture	PostScript	Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

Protein Domain and Structure Information

InterPro Domains: Graphical view of domain structure
IPR009011 - Man6P_isomerase_rcpt-bd_dom
IPR000296 - Man_6_P_rcpt

Pfam Domains:
PF02157 - Mannose-6-phosphate receptor
PF09451 - Autophagy-related protein 27

SCOP Domains:
50911 - Mannose 6-phosphate receptor domain

ModBase Predicted Comparative 3D Structure on Q96AH2


Front	Top	Side

The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

Orthologous Genes in Other Species

Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.

Mouse	Rat	Zebrafish	D. melanogaster	C. elegans	S. cerevisiae
No ortholog	No ortholog	No ortholog	No ortholog	No ortholog	No ortholog
Gene Details	Gene Details
Gene Sorter	Gene Sorter
	RGD	Ensembl

Gene Ontology (GO) Annotations with Structured Vocabulary


	Molecular Function: GO:0005537 mannose binding GO:0015578 mannose transmembrane transporter activity Biological Process: GO:0015761 mannose transport Cellular Component: GO:0000323 lytic vacuole GO:0016020 membrane GO:0016021 integral component of membrane

Descriptions from all associated GenBank mRNAs


	HQ447561 - Synthetic construct Homo sapiens clone IMAGE:100070902; CCSB014687_02 mannose-6-phosphate receptor (cation dependent) (M6PR) gene, encodes complete protein. KJ891563 - Synthetic construct Homo sapiens clone ccsbBroadEn_00957 M6PR gene, encodes complete protein. BC017111 - Homo sapiens, Similar to mannose-6-phosphate receptor (cation dependent), clone IMAGE:3608320, mRNA, partial cds. BC024206 - Homo sapiens mannose-6-phosphate receptor (cation dependent), mRNA (cDNA clone MGC:4080 IMAGE:3530887), complete cds. M16985 - Human cation-dependent mannose 6-phosphate-specific receptor mRNA, complete cds. DQ599526 - Homo sapiens piRNA piR-37592, complete sequence. DQ586234 - Homo sapiens piRNA piR-53346, complete sequence. JD062890 - Sequence 43914 from Patent EP1572962. JD403147 - Sequence 384171 from Patent EP1572962. DQ593078 - Homo sapiens piRNA piR-33190, complete sequence. JD415392 - Sequence 396416 from Patent EP1572962. JD327094 - Sequence 308118 from Patent EP1572962. JD500645 - Sequence 481669 from Patent EP1572962. DQ577575 - Homo sapiens piRNA piR-45687, complete sequence. JD214135 - Sequence 195159 from Patent EP1572962. AK222792 - Homo sapiens mRNA for cation-dependent mannose-6-phosphate receptor precursor variant, clone: HEP02984. JD259139 - Sequence 240163 from Patent EP1572962. JD290259 - Sequence 271283 from Patent EP1572962. AK291143 - Homo sapiens cDNA FLJ78098 complete cds, highly similar to Homo sapiens mannose-6-phosphate receptor (cation dependent) (M6PR), mRNA. JD454851 - Sequence 435875 from Patent EP1572962. JD081933 - Sequence 62957 from Patent EP1572962. JD383817 - Sequence 364841 from Patent EP1572962. JD166527 - Sequence 147551 from Patent EP1572962. AK312689 - Homo sapiens cDNA, FLJ93084, highly similar to Homo sapiens mannose-6-phosphate receptor (cation dependent) (M6PR), mRNA. CU692880 - Synthetic construct Homo sapiens gateway clone IMAGE:100023031 5' read M6PR mRNA. AB527551 - Synthetic construct DNA, clone: pF1KB6302, Homo sapiens M6PR gene for mannose-6-phosphate receptor, without stop codon, in Flexi system. CR457412 - Homo sapiens full open reading frame cDNA clone RZPDo834D0814D for gene M6PR, mannose-6-phosphate receptor (cation dependent); complete cds, incl. stopcodon. JD022429 - Sequence 3453 from Patent EP1572962. JD034131 - Sequence 15155 from Patent EP1572962. JD028204 - Sequence 9228 from Patent EP1572962. AK057556 - Homo sapiens cDNA FLJ32994 fis, clone THYMU1000105. JD170638 - Sequence 151662 from Patent EP1572962. JD191400 - Sequence 172424 from Patent EP1572962.

Other Names for This Gene


	Alternate Gene Symbols: ENST00000000412.1, ENST00000000412.2, NM_002355, Q96AH2, Q96AH2_HUMAN, uc317but.1 UCSC ID: ENST00000000412.3 RefSeq Accession: NM_002355.4 Protein: Q96AH2

Gene Model Information


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Methods, Credits, and Use Restrictions


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