Amhr2 anti-Mullerian hormone type 2 receptor [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Amhr2provided by MGI
Official Full Name: anti-Mullerian hormone type 2 receptorprovided by MGI
Primary source: MGI:MGI:105062
See related: Ensembl:ENSMUSG00000023047 AllianceGenome:MGI:105062
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: C14; Mrii; Misiir; Misrii
Summary: Enables anti-Mullerian hormone receptor activity. Acts upstream of or within anti-Mullerian hormone signaling pathway; negative regulation of anti-Mullerian hormone signaling pathway; and sex differentiation. Predicted to be integral component of plasma membrane. Predicted to be part of activin receptor complex. Predicted to be active in plasma membrane. Is expressed in several structures, including early embryo; forebrain; genitourinary system; and nose. Used to study persistent Mullerian duct syndrome. Human ortholog(s) of this gene implicated in persistent Mullerian duct syndrome. Orthologous to human AMHR2 (anti-Mullerian hormone receptor type 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in testis adult (RPKM 55.6) and ovary adult (RPKM 49.5) See more
Orthologs: human all
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Genomic context

Location:: 15 F3; 15 57.58 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (102353437..102363075)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (102445002..102454640)

Chromosome 15 - NC_000081.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Insulin-like Growth Factor 1, Growth Hormone, and Anti-Mullerian Hormone Receptors Are Differentially Expressed during GnRH Neuron Development.
Title: Insulin-like Growth Factor 1, Growth Hormone, and Anti-Müllerian Hormone Receptors Are Differentially Expressed during GnRH Neuron Development.
Chicken ovalbumin upstream promoter transcription factor type II interacts and functionally cooperates with GATA4 to regulate anti-Mullerian hormone receptor type 2 transcription in mouse MA-10 Leydig cells.
Title: Chicken ovalbumin upstream promoter transcription factor type II interacts and functionally cooperates with GATA4 to regulate anti-Müllerian hormone receptor type 2 transcription in mouse MA-10 Leydig cells.
Exposure to MIS during the first six days of life, by inhibiting specification of the stroma, dysregulates paracrine signals necessary for uterine development, eventually resulting in apoptosis of the Misr2+ cells, uterine hypoplasia, and complete infertility in the adult female.
Title: Single-cell sequencing of neonatal uterus reveals an Misr2+ endometrial progenitor indispensable for fertility.
lncRNA-Amhr2 plays a role in Amhr2 gene activation in ovarian granulosa cells by enhancing promoter activity, providing insight into Amhr2 gene regulation underlying the AMH signaling in the female reproductive system.
Title: A Long Noncoding RNA, lncRNA-Amhr2, Plays a Role in Amhr2 Gene Activation in Mouse Ovarian Granulosa Cells.
A significant subset of GnRH neurons express the AMH receptor and AMH potently activates the GnRH neuron firing.
Title: Novel role for anti-Müllerian hormone in the regulation of GnRH neuron excitability and hormone secretion.
physiological function(s) of type 2 anti-Mullerian hormone receptor
Title: The type 2 anti-Müllerian hormone receptor has splice variants that are dominant-negative inhibitors.
Wt1 is an activator of Amhr2.
Title: Wilms' tumor protein Wt1 is an activator of the anti-Müllerian hormone receptor gene Amhr2.

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Variation

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Alleles

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

Targeted (3) 1 citation
Endonuclease-mediated (6) 1 citation

General gene information

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Markers

Amhr2 (e-PCR), detects polymorphism
- UniSTS:525881

NoName (e-PCR)
- UniSTS:237406

Amhr2 (e-PCR), detects polymorphism
- UniSTS:525956

Amhr2 (e-PCR), detects polymorphism
- UniSTS:496635

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables anti-Mullerian hormone receptor activity	ISO Inferred from Sequence Orthology more info
enables hormone binding	ISO Inferred from Sequence Orthology more info
enables kinase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein kinase activity	IEA Inferred from Electronic Annotation more info
enables protein serine/threonine kinase activity	IEA Inferred from Electronic Annotation more info
enables transferase activity	IEA Inferred from Electronic Annotation more info
enables transforming growth factor beta receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables transforming growth factor beta receptor activity	TAS Traceable Author Statement more info	PubMed
enables transforming growth factor beta receptor activity, type II	ISO Inferred from Sequence Orthology more info
enables transmembrane receptor protein serine/threonine kinase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in BMP signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in anti-Mullerian hormone receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in blood vessel development	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell surface receptor protein serine/threonine kinase signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in cellular response to growth factor stimulus	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in protein phosphorylation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within sex differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within transforming growth factor beta receptor signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within transforming growth factor beta receptor signaling pathway	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info	PubMed
part_of receptor complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: anti-Muellerian hormone type-2 receptor

Names: AMH type II receptor; MIS type II receptor; anti-Muellerian hormone type II receptor; anti-Mullerian hormone type 2 receptor delta 2; anti-Mullerian hormone type 2 receptor delta 9/10

NP_001343504.1

EC 2.7.11.30

NP_653130.2

EC 2.7.11.30

XP_006520357.1

EC 2.7.11.30

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_001356575.1 → NP_001343504.1 anti-Muellerian hormone type-2 receptor precursor

Status: VALIDATED

Source sequence(s)

AC137156

Consensus CDS

CCDS27882.1

UniProtKB/Swiss-Prot

Q0VDQ4, Q8K592

Conserved Domains (2) summary

pfam01064
Location:61 → 119

Activin_recp; Activin types I and II receptor domain

cl21453
Location:203 → 504

PKc_like; Protein Kinases, catalytic domain
NM_144547.2 → NP_653130.2 anti-Muellerian hormone type-2 receptor precursor

See identical proteins and their annotated locations for NP_653130.2

Status: VALIDATED

Source sequence(s)

BB052908, BB868995, BC119571, CJ194934

Consensus CDS

CCDS27882.1

UniProtKB/Swiss-Prot

Q0VDQ4, Q8K592

Related

ENSMUSP00000023809.5, ENSMUST00000023809.11

Conserved Domains (2) summary

pfam01064
Location:61 → 119

Activin_recp; Activin types I and II receptor domain

cl21453
Location:203 → 504

PKc_like; Protein Kinases, catalytic domain

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_000081.7 Reference GRCm39 C57BL/6J

Range

102353437..102363075

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006520294.5 → XP_006520357.1 anti-Muellerian hormone type-2 receptor isoform X1

Conserved Domains (1) summary

cl21453
Location:203 → 409

PKc_like; Protein Kinases, catalytic domain