MAMDC4 MAM domain containing 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MAMDC4provided by HGNC
Official Full Name: MAM domain containing 4provided by HGNC
Primary source: HGNC:HGNC:24083
See related: Ensembl:ENSG00000177943 MIM:617208; AllianceGenome:HGNC:24083
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AEGP; EDTB
Summary: Predicted to be involved in protein transport. Predicted to be located in membrane. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in liver (RPKM 5.0), spleen (RPKM 4.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q34.3

Exon count:: 27

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (136852346..136860799)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (149086528..149094981)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (139746798..139755251)

Chromosome 9 - NC_000009.12 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: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Expression is localized to the apical surface of the neonatal enterocyte and decreases over time in association with bacterial colonization of the intestine
Title: Postnatal regulation of MAMDC4 in the porcine intestinal epithelium is influenced by bacterial colonization.
Results suggest that it is the presence of rare syntenic SEC16A and MAMDC4 deletions that increases susceptibility to axial spondyloarthritis in family members who carry the HLA-B*27 allele.
Title: Private rare deletions in SEC16A and MAMDC4 may represent novel pathogenic variants in familial axial spondyloarthritis.
PMID:7829488 describes studies in rat, however, the human MAMDC4 gene product appears to be a homolog of rat apical early endosomal glycoprotein.
Title: Molecular characterization of an apical early endosomal glycoprotein from developing rat intestinal epithelial cells.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in protein transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor 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; apical early endosomal glycoprotein; endotubin

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_206920.3 → NP_996803.2 apical endosomal glycoprotein precursor

See identical proteins and their annotated locations for NP_996803.2

Status: VALIDATED

Source sequence(s)

AL355987, AY358419, BF339007, BQ270782

Consensus CDS

CCDS7010.1

UniProtKB/Swiss-Prot

A2A3D4, B0QZ81, Q5T5S2, Q6UXC1, Q8NCX7

Related

ENSP00000319388.2, ENST00000317446.7

Conserved Domains (4) summary

cd06263
Location:577 → 728

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:889 → 1055

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

cd00112
Location:229 → 261

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:577 → 729

MAM; MAM domain, meprin/A5/mu