MAMDC4 (MAM domain containing 4)

Gene

• Entrez ID: 158056
• Gene name: MAM domain containing 4
• Gene symbol: MAMDC4
• Synonyms (NCBI Gene): AEGP, EDTB
• Chromosome: 9
• Chromosome location: 9q34.3

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1126754	hsa-miR-1182	CLIP-seq
MIRT1126755	hsa-miR-1287	CLIP-seq
MIRT1126756	hsa-miR-302a	CLIP-seq
MIRT1126757	hsa-miR-302b	CLIP-seq
MIRT1126758	hsa-miR-302c	CLIP-seq
MIRT1126759	hsa-miR-302d	CLIP-seq
MIRT1126760	hsa-miR-302e	CLIP-seq
MIRT1126761	hsa-miR-3135b	CLIP-seq
MIRT1126762	hsa-miR-372	CLIP-seq
MIRT1126763	hsa-miR-373	CLIP-seq
MIRT1126764	hsa-miR-4256	CLIP-seq
MIRT1126765	hsa-miR-512-3p	CLIP-seq
MIRT1126766	hsa-miR-520a-3p	CLIP-seq
MIRT1126767	hsa-miR-520b	CLIP-seq
MIRT1126768	hsa-miR-520c-3p	CLIP-seq
MIRT1126769	hsa-miR-520d-3p	CLIP-seq
MIRT1126770	hsa-miR-520e	CLIP-seq
MIRT2453628	hsa-miR-1908	CLIP-seq
MIRT2453629	hsa-miR-3065-3p	CLIP-seq
MIRT2453630	hsa-miR-3665	CLIP-seq
MIRT2453631	hsa-miR-3934	CLIP-seq
MIRT2453632	hsa-miR-4486	CLIP-seq
MIRT2453633	hsa-miR-4736	CLIP-seq
MIRT2453634	hsa-miR-4797-5p	CLIP-seq
MIRT2453635	hsa-miR-486-3p	CLIP-seq
MIRT2453636	hsa-miR-661	CLIP-seq
MIRT2453637	hsa-miR-663	CLIP-seq
MIRT2453638	hsa-miR-744	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0007399	Process	Nervous system development	IBA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA

Other IDs

• MIM: 617208
• HGNC: 24083
• e!Ensembl: ENSG00000177943

Protein

• UniProt ID: Q6UXC1
• Protein name: Apical endosomal glycoprotein (MAM domain-containing protein 4)
• Protein function: Probably involved in the sorting and selective transport of receptors and ligands across polarized epithelia.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00629	MAM	66 → 230	MAM domain, meprin/A5/mu	Domain
  PF00057	Ldl_recept_a	227 → 265	Low-density lipoprotein receptor domain class A	Repeat
  PF00629	MAM	271 → 424	MAM domain, meprin/A5/mu	Domain
  PF00629	MAM	493 → 643	MAM domain, meprin/A5/mu	Domain
  PF00629	MAM	656 → 808	MAM domain, meprin/A5/mu	Domain
  PF00629	MAM	813 → 968	MAM domain, meprin/A5/mu	Domain
  PF00629	MAM	973 → 1137	MAM domain, meprin/A5/mu	Domain

• Sequence:

  MPLSSHLLPALVLFLAGSSGWAWVPNHCRSPGQAVCNFVCDCRDCSDEAQCGYHGASPTL
  GAPFACDFEQDPCGWRDISTSGYSWLRDRAGAALEGPGPHSDHTLGTDLGWYMAVGTHRG
  KEASTAALRSPTLREAASSCKLRLWYHAASGDVAELRVELTHGAETLTLWQSTGPWGPGW
  QELAVTTGRIRGDFRVTFSATRNATHRGAVALDDLEFWDCGLPTPQANCPPGHHHCQNKV
  CVEPQQLCDGEDNCGDLSDENPLTCGRHIATDFETGLGPWNRSEGWSRNHRAGGPERPSW
  PRRDHSRNSAQGSFLVSVAEPGTPAILSSPEFQASGTSNCSLVFYQYLSGSEAGCLQLFL
  QTLGPGAPRAPVLLRRRRGELGTAWVRDRVDIQSAYPFQILLAGQTGPGGVVGLDDLILS
  DHCRPVSEVSTLQPLPPGPRAPAPQPLPPSSRLQDSCKQGHLACGDLCVPPEQLCDFEEQ
  CAGGEDEQACGTTDFESPEAGGWEDASVGRLQWRRVSAQESQGSSAAAAGHFLSLQRAWG
  QLGAEARVLTPLLGPSGPSCELHLAYYLQSQPRGFLALVVVDNGSRELAWQALSSSAGIW
  KVDKVLLGARRRPFRLEFVGLVDLDGPDQQGAGVDNVTLRDCSPTVTTERDREVSCNFER
  DTCSWYPGHLSDTHWRWVESRGPDHDHTTGQGHFVLLDPTDPLAWGHSAHLLSRPQVPAA
  PTECLSFWYHLHGPQIGTLRLAMRREGEETHLWSRSGTQGNRWHEAWATLSHQPGSHAQY
  QLLFEGLRDGYHGTMALDDVAVRPGPCWAPNYCSFEDSDCGFSPGGQGLWRRQANASGHA
  AWGPPTDHTTETAQGHYMVVDTSPDALPRGQTASLTSKEHRPLAQPACLTFWYHGSLRSP
  GTLRVYLEERGRHQVLSLSAHGGLAWRLGSMDVQAERAWRVVFEAVAAGVAHSYVALDDL
  LLQDGPCPQPGSCDFESGLCGWSHLAWPGLGGYSWDWGGGATPSRYPQPPVDHTLGTEAG
  HFAFFETGVLGPGGRAAWLRSEPLPATPASCLRFWYHMGFPEHFYKGELKVLLHSAQGQL
  AVWGAGGHRRHQWLEAQVEVASAKEFQIVFEATLGGQPALGPIALDDVEYLAGQHCQQPA
  PSPGNTAAPGSVPAVVGSALLLLMLLVLLGLGGRRWLQKKGSCPFQSNTEATAPGFDNIL
  FNADGVTLPASVTSDP

• Sequence length: 1216

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
Acute myeloid leukemia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only