MAGEB2 (MAGE family member B2)

Gene

• Entrez ID: 4113
• Gene name: MAGE family member B2
• Gene symbol: MAGEB2
• Synonyms (NCBI Gene): CT3.2, DAM6, MAGE-XP-2
• Chromosome: X
• Chromosome location: Xp21.2
• Summary: This gene is a member of the MAGEB gene family. The members of this family have their entire coding sequences located in the last exon, and the encoded proteins show 50 to 68% sequence identity to each other. The promoters and first exons of the MAGEB gen

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT027712	hsa-miR-98-5p	Microarray	19088304
MIRT041337	hsa-miR-193b-3p	CLASH	23622248
MIRT1125660	hsa-miR-193a-5p	CLIP-seq
MIRT1125661	hsa-miR-23a	CLIP-seq
MIRT1125662	hsa-miR-23b	CLIP-seq
MIRT1125663	hsa-miR-23c	CLIP-seq
MIRT1125664	hsa-miR-3145-3p	CLIP-seq
MIRT1125665	hsa-miR-615-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183, 32814053
GO:0005634	Component	Nucleus	IBA

Other IDs

• MIM: 300098
• HGNC: 6809
• e!Ensembl: ENSG00000099399

Protein

• UniProt ID: O15479
• Protein name: Melanoma-associated antigen B2 (Cancer/testis antigen 3.2) (CT3.2) (DSS-AHC critical interval MAGE superfamily 6) (DAM6) (MAGE XP-2 antigen) (MAGE-B2 antigen)
• Protein function: May enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. {ECO:0000269|PubMed:
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12440	MAGE_N	5 → 95	Melanoma associated antigen family N terminal	Family
  PF01454	MAGE	179 → 286	MAGE family	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in testis and placenta, and in a significant fraction of tumors of various histologic types.
• Sequence:

  MPRGQKSKLRAREKRRKARDETRGLNVPQVTEAEEEEAPCCSSSVSGGAASSSPAAGIPQ
  EPQRAPTTAAAAAAGVSSTKSKKGAKSHQGEKNASSSQASTSTKSPSEDPLTRKSGSLVQ
  FLLYKYKIKKSVTKGEMLKIVGKRFREHFPEILKKASEGLSVVFGLELNKVNPNGHTYTF
  IDKVDLTDEESLLSSWDFPRRKLLMPLLGVIFLNGNSATEEEIWEFLNMLGVYDGEEHSV
  FGEPWKLITKDLVQEKYLEYKQVPSSDPPRFQFLWGPRAYAETSKMKVLEFLAKVNGTTP
  CAFPTHYEEALKDEEKAGV

• Sequence length: 319

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
AUTISTIC DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Autoimmune polyendocrinopathy syndrome type 1	Autoimmune polyendocrine syndrome type 1	Pubtator	26830021	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	9538511		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	16082191	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35937396	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	16082191		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	19004030	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	20381863		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	8535061		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	19004030	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	9538511		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26642794		★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	26642794		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	12018852		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	27563821		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	20381863		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25564441		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	26642794		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	35660381	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	16082191		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	34307667	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	23029077	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	23029077		★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular neoplasm	Pubtator	21791470	Associate	★☆☆☆☆ Found in Text Mining only