MAML3 - mastermind like transcriptional coactivator 3 Gene

Also Known as GDN; MAM2; CAGH3; ERDA3; MAM-2; TNRC3; mam-3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55534

About MAML3

Cytogenetic location: 4q31.1 Genomic coordinates (GRCh38): 4:139,716,753-140,154,184 (from NCBI)

This gene has 2 transcripts (splice variants), 210 orthologues and 2 paralogues. Ubiquitous expression in ovary (RPKM 4.8), endometrium (RPKM 4.6) and 25 other tissues.

Summary

Enables transcription coactivator activity. Involved in Notch signaling pathway and positive regulation of transcription by RNA polymerase II. Located in nuclear speck. [provided by Alliance of Genome Resources, Apr 2022]

MAML3 Products (1)

mRNA Protein Name
NM_018717.5 NP_061187.3 mastermind-like protein 3
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
12370315 GOA
enables transcription coactivator activity IDA
IDA: Inferred from direct assay
12370315 GOA
Biological Process GO Annotation Evidence References Source
involved in Notch signaling pathway IDA
IDA: Inferred from direct assay
12370315 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
12370315 GOA
Cellular Component GO Annotation Evidence References Source
located in nucleus IDA
IDA: Inferred from direct assay
12370315 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MAML3 Protein Structure

MamL-1

MamL-1: MamL-1 domain (68 - 126)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1138 a.a.
Protein Preferred Names Protein Names

mastermind-like protein 3

  • CAG repeat containing (glia-derived nexin I alpha)

MAML3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
MAML3 Q96JK9 P46531-PRO_0000007676 Homo sapiens P46531-PRO_0000007676 12370315
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Schneiderian Carcinoma
  • Cylindrical Cell Carcinoma

Ossifying Fibromyxoid Tumor
  • Ossifying Fibromyxoid Tumour

  • Ossifying Fibromyxoma

Lipofibromatosis-Like Neural Tumor
Adult Fibrosarcoma
Microphthalmia, Syndromic 2
  • Oculofaciocardiodental Syndrome

  • Ofcd Syndrome

  • MCOPS2

  • Microphthalmia, Cataracts, Radiculomegaly, And Septal Heart Defects

  • Syndromic Microphthalmia 2

  • Anop2

  • Cataract-Microphthalmia-Radiculomegaly-Cardiac Septal Defect Syndrome

  • Maa2

  • Microphthalmia Cataracts Radiculomegaly And Septal Heart Defects

  • Syndromic Microphthalmia Type 2

  • Oculo-Facio-Cardio-Dental Syndrome

  • Anop2, Formerly

  • Maa2, Formerly

  • Microphthalmia Syndromic 2

  • Oculo Facio Cardio Dental Syndrome

  • Microphthalmia, Syndromic, 2

  • Marashi-Gorlin Syndrome

  • Microphthalmia, Cataracts, Radiculomegaly And Septal Heart Defects

  • Microphthalmia, Syndromic, Type 2

Persistent Generalized Lymphadenopathy
  • Pgl

  • Persistant Generalized Lymphadenopathy

Kidney Clear Cell Sarcoma
  • Clear Cell Sarcoma Of Kidney

  • Childhood Kidney Clear Cell Sarcoma

  • Renal Clear Cell Sarcoma

  • Ccsk

  • Clear Cell Sarcoma Of The Kidney

Spindle Cell Rhabdomyosarcoma
Adenoid Cystic Carcinoma
  • Adenocystic Carcinoma

  • Cribriform Carcinoma

  • Cylindroma

  • Carcinoma Adenoid Cystic

  • Carcinoma, Adenoid Cystic

  • Adenoid Cystic Carcinoma Of Salivary Gland

  • Eccrine Dermal Cylindroma

  • Carcinoma, Cribriform

Malignant Triton Tumor
  • Malignant Peripheral Nerve Sheath Neoplasm With Rhabdomyosarcoma

  • Malignant Triton Tumour

  • Mpnst With Rhabdomyoblastic Differentiation

  • Mpnst With Rhabdomyosarcoma

  • Mpnst With Rhabdomyosarcomatous Differentiation

  • Mtt

  • Malignant Peripheral Nerve Sheath Tumor With Rhabdomyosarcomatous Differenciation

  • Malignant Peripheral Nerve Sheath Tumor With Rhabdomyoblastic Differentiation

Endometrial Stromal Tumor
  • Endometrial Stromal Neoplasm

  • Endometrial Stromal Tumors

Spindle Cell Sarcoma
  • Sarcoma

  • Sarcoma Spindle Cell

  • Sarcoma, Spindle Cell

  • Sarcoma - Category

Endometrial Stromal Sarcoma
  • Ess

  • Endometrial Stromal Sarcoma, High Grade

  • Undifferentiated Endometrial Sarcoma

  • Stromal Sarcoma Of The Corpus Uteri

  • Sarcoma Endometrial Stromal

  • Sarcoma, Endometrial Stromal

  • Undifferentiated Stromal Sarcoma

Enchondromatosis, Multiple, Ollier Type
  • Ollier Disease

  • Enchondromatosis

  • Dyschondroplasia

  • Osteochondromatosis

  • Multiple Cartilaginous Enchondroses

  • Multiple Enchondromatosis

  • Enchondromatosis With Haemangiomata

  • Enchondromatosis, Multiple

  • Kast'S Syndrome

  • Ollier'S Syndrome

  • Enchondromatosis Multiple

  • ENCHOM

  • Maffucci Disease

  • Olliers Disease

  • Hereditary Multiple Exostoses

  • Chondromatosis

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus MAML3 RGD RGD:1308177
Canis familiaris MAML3 VGNC VGNC:50422
Bos taurus MAML3 VGNC VGNC:53912
Mus musculus MAML3 MGD MGI:2389461
Macaca mulatta MAML3 VGNC VGNC:74298
Felis catus MAML3 VGNC VGNC:107343
Others MAML3 NCBI