MAMDC2 MAM domain containing 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MAMDC2provided by HGNC
Official Full Name: MAM domain containing 2provided by HGNC
Primary source: HGNC:HGNC:23673
See related: Ensembl:ENSG00000165072 MIM:612879; AllianceGenome:HGNC:23673
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
Summary: Predicted to enable glycosaminoglycan binding activity. Predicted to act upstream of or within peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in ovary (RPKM 16.0), endometrium (RPKM 14.8) and 24 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 9q21.12

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (70043581..70226972)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (82210377..82393821)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (72658497..72841888)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy.
Title: Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy.
MAM domain containing 2 is a potential breast cancer biomarker that exhibits tumour-suppressive activity.
Title: MAM domain containing 2 is a potential breast cancer biomarker that exhibits tumour-suppressive activity.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

SHGC-12216 (e-PCR)
- UniSTS:3845

SHGC-86281 (e-PCR)
- UniSTS:104502

RH47183 (e-PCR)
- UniSTS:55879

D9S1077 (e-PCR)
- UniSTS:49770

SHGC-154936 (e-PCR)
- UniSTS:184965

STS-N33222 (e-PCR)
- UniSTS:74637

GDB:451646 (e-PCR)
- UniSTS:157335

D9S1999 (e-PCR)
- UniSTS:2745

SHGC-83496 (e-PCR)
- UniSTS:103369

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in nervous system development	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

Go to the top of the page Help

Preferred Names: MAM domain-containing protein 2

Names: MAM domain-containing proteoglycan; mamcan

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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.

Genomic

NG_052797.1 RefSeqGene

Range

5330..188454

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001347990.2 → NP_001334919.1 MAM domain-containing protein 2 isoform 2 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 3' structure, resulting in a novel 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.

Source sequence(s)

AI003621, AL392044

UniProtKB/TrEMBL

A0A0G2JQ91
NM_153267.5 → NP_694999.3 MAM domain-containing protein 2 isoform 1 precursor

See identical proteins and their annotated locations for NP_694999.3

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).

Source sequence(s)

AL158153, AL392044, BC063634

Consensus CDS

CCDS6631.1

UniProtKB/Swiss-Prot

Q5VW47, Q7Z304, Q8WX43, Q96BM4

UniProtKB/TrEMBL

B4E320

Related

ENSP00000366387.4, ENST00000377182.5

Conserved Domains (2) summary

cd06263
Location:509 → 664

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 ...

pfam00629
Location:509 → 666

MAM; MAM domain, meprin/A5/mu

RNA

NR_125850.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate splice site in an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AL158153, AL392044, BC040299