Mamdc4 MAM domain containing 4 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mamdc4provided by MGI
Official Full Name: MAM domain containing 4provided by MGI
Primary source: MGI:MGI:2685841
See related: Ensembl:ENSMUSG00000026941 AllianceGenome:MGI:2685841
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Gm995
Summary: Predicted to be involved in nervous system development. Predicted to be located in endosome. Orthologous to human MAMDC4 (MAM domain containing 4). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in thymus adult (RPKM 4.7), limb E14.5 (RPKM 3.7) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 A3; 2 17.41 cM

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (25453124..25461328, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (25563115..25571316, complement)

Chromosome 2 - NC_000068.8 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?

Regulation of YAP and Wnt signaling by the endosomal protein MAMDC4.
Title: Regulation of YAP and Wnt signaling by the endosomal protein MAMDC4.
Proliferation in the developing intestine is regulated by the endosomal protein Endotubin.
Title: Proliferation in the developing intestine is regulated by the endosomal protein Endotubin.

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Variation

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Alleles

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

Endonuclease-mediated (2)
Targeted (1) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
involved_in biological_process	ND No biological Data available more info
involved_in nervous system development	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in endosome	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: apical endosomal glycoprotein

Names: MAM domain-containing protein 4; probable ortholog of human apical early endosomal glycoprotein precursor (AEGP)

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_001081199.1 → NP_001074668.2 apical endosomal glycoprotein precursor

Status: PROVISIONAL

Source sequence(s)

AL732590

Consensus CDS

CCDS50531.1

UniProtKB/Swiss-Prot

A2AJA6, A2AJA7

UniProtKB/TrEMBL

D3YY20

Related

ENSMUSP00000092735.4, ENSMUST00000095117.10

Conserved Domains (4) summary

cd06263
Location:823 → 977

MAM; Meprin, A5 protein, and protein tyrosine phosphatase Mu (MAM) domain. MAM is an extracellular domain which mediates protein-protein interactions and is found in a diverse set of proteins, many of which are known to function in cell adhesion. Members ...

smart00137
Location:660 → 817

MAM; Domain in meprin, A5, receptor protein tyrosine phosphatase mu (and others)

cd00112
Location:234 → 266

LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

pfam00629
Location:823 → 979

MAM; MAM domain, meprin/A5/mu