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

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Acute myeloid leukemia	Likely benign	rs145077934	RCV005927624
Adrenocortical carcinoma, hereditary	Likely benign	rs145077934	RCV005927627
Cervical cancer	Likely benign	rs145077934	RCV005927628
Clear cell carcinoma of kidney	Likely benign	rs145077934	RCV005927629
Familial pancreatic carcinoma	Likely benign	rs145077934	RCV005927631
Gastric cancer	Likely benign	rs145077934	RCV005927634
Hepatocellular carcinoma	Likely benign	rs145077934	RCV005927625
Lymphoma	Likely benign	rs145077934	RCV005927635
Malignant lymphoma, large B-cell, diffuse	Likely benign	rs145077934	RCV005927632
Malignant tumor of esophagus	Likely benign	rs145077934, rs368792000	RCV005927626 RCV005927639
Melanoma	Likely benign	rs145077934	RCV005927638
Ovarian serous cystadenocarcinoma	Likely benign	rs145077934	RCV005927636
Sarcoma	Likely benign	rs145077934	RCV005927633
Thyroid cancer, nonmedullary, 1	Likely benign	rs145077934	RCV005927637
Uterine corpus endometrial carcinoma	Likely benign	rs368792000	RCV005927640
Uveal melanoma	Likely benign	rs145077934	RCV005927630

Associations from Text Mining
Disease Name	Relationship Type	References
Axial Spondyloarthritis	Associate	25956157