MAMDC2 (MAM domain containing 2)

Gene

• Entrez ID: 256691
• Gene name: MAM domain containing 2
• Gene symbol: MAMDC2
• Synonyms (NCBI Gene): -
• Chromosome: 9
• Chromosome location: 9q21.12

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1126752	hsa-miR-3924	CLIP-seq
MIRT1126753	hsa-miR-4503	CLIP-seq
MIRT2035814	hsa-miR-664	CLIP-seq
MIRT2565457	hsa-miR-181a	CLIP-seq
MIRT2565458	hsa-miR-181b	CLIP-seq
MIRT2565459	hsa-miR-181c	CLIP-seq
MIRT2565460	hsa-miR-181d	CLIP-seq
MIRT2565461	hsa-miR-3121-5p	CLIP-seq
MIRT2565462	hsa-miR-4262	CLIP-seq
MIRT2565463	hsa-miR-433	CLIP-seq
MIRT2565464	hsa-miR-4520a-3p	CLIP-seq
MIRT2565465	hsa-miR-4520b-3p	CLIP-seq
MIRT2565466	hsa-miR-501-5p	CLIP-seq
MIRT2565457	hsa-miR-181a	CLIP-seq
MIRT2565458	hsa-miR-181b	CLIP-seq
MIRT2565459	hsa-miR-181c	CLIP-seq
MIRT2565460	hsa-miR-181d	CLIP-seq
MIRT2565461	hsa-miR-3121-5p	CLIP-seq
MIRT2565462	hsa-miR-4262	CLIP-seq
MIRT2565463	hsa-miR-433	CLIP-seq
MIRT2565464	hsa-miR-4520a-3p	CLIP-seq
MIRT2565465	hsa-miR-4520b-3p	CLIP-seq
MIRT2565466	hsa-miR-501-5p	CLIP-seq
MIRT2684425	hsa-miR-548c-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0016020	Component	Membrane	IEA

Other IDs

• MIM: 612879
• HGNC: 23673
• e!Ensembl: ENSG00000165072

Protein

• UniProt ID: Q7Z304
• Protein name: MAM domain-containing protein 2 (MAM domain-containing proteoglycan) (Mamcan)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00629	MAM	26 → 168	MAM domain, meprin/A5/mu	Domain
  PF00629	MAM	170 → 328	MAM domain, meprin/A5/mu	Domain
  PF00629	MAM	342 → 497	MAM domain, meprin/A5/mu	Domain
  PF00629	MAM	509 → 665	MAM domain, meprin/A5/mu	Domain

• Sequence:

  MLLRGVLLALQALQLAGALDLPAGSCAFEESTCGFDSVLASLPWILNEEGHYIYVDTSFG
  KQGEKAVLLSPDLQAEEWSCLRLVYQITTSSESLSDPSQLNLYMRFEDESFDRLLWSAKE
  PSDSWLIASLDLQNSSKKFKILIEGVLGQGNTASIALFEIKMTTGYCIECDFEENHLCGF
  VNRWNPNVNWFVGGGSIRNVHSILPQDHTFKSELGHYMYVDSVYVKHFQEVAQLISPLTT
  APMAGCLSFYYQIQQGNDNVFSLYTRDVAGLYEEIWKADRPGNAAWNLAEVEFSAPYPME
  VIFEVAFNGPKGGYVALDDISFSPVHCQNQTELLFSAVEASCNFEQDLCNFYQDKEGPGW
  TRVKVKPNMYRAGDHTTGLGYYLLANTKFTSQPGYIGRLYGPSLPGNLQYCLRFHYAIYG
  FLKMSDTLAVYIFEENHVVQEKIWSVLESPRGVWMQAEITFKKPMPTKVVFMSLCKSFWD
  CGLVALDDITIQLGSCSSSEKLPPPPGECTFEQDECTFTQEKRNRSSWHRRRGETPTSYT
  GPKGDHTTGVGYYMYIEASHMVYGQKARLLSRPLRGVSGKHCLTFFYHMYGGGTGLLSVY
  LKKEEDSEESLLWRRRGEQSISWLRALIEYSCERQHQIIFEAIRGVSIRSDIAIDDVKFQ
  AGPCGEMEDTTQQSSGYSEDLNEIEY

• Sequence length: 686

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CAROTID ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	38188687	Inhibit	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	35578166	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	27605433	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	29030909		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	35327656	Associate	★☆☆☆☆ Found in Text Mining only