MITF - melanocyte inducing transcription factor Gene

Also Known as MI; WS2; CMM8; WS2A; COMMAD; MITF-A; bHLHe32

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4286

About MITF

Cytogenetic location: 3p13 Genomic coordinates (GRCh38): 3:69,739,464-69,968,332 (from NCBI)

This gene has 20 transcripts (splice variants), 277 orthologues, 3 paralogues and is associated with 107 phenotypes. Broad expression in endometrium (RPKM 9.9), heart (RPKM 3.9) and 19 other tissues.

Summary

The protein encoded by this gene is a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. The encoded protein regulates melanocyte development and is responsible for pigment cell-specific transcription of the melanogenesis enzyme genes. Heterozygous mutations in the this gene cause auditory-pigmentary syndromes, such as Waardenburg syndrome type 2 and Tietz syndrome. [provided by RefSeq, Aug 2017]

MITF Products (13)

mRNA	Protein	Name
NM_000248.4	NP_000239.1	microphthalmia-associated transcription factor isoform 4
NM_001184967.2	NP_001171896.1	microphthalmia-associated transcription factor isoform 7
NM_001184968.2	NP_001171897.1	microphthalmia-associated transcription factor isoform 8
NM_001354604.2	NP_001341533.1	microphthalmia-associated transcription factor isoform 9
NM_001354605.2	NP_001341534.1	microphthalmia-associated transcription factor isoform 10
NM_001354606.2	NP_001341535.1	microphthalmia-associated transcription factor isoform 11
NM_001354607.2	NP_001341536.1	microphthalmia-associated transcription factor isoform 12
NM_001354608.2	NP_001341537.1	microphthalmia-associated transcription factor isoform 7
NM_006722.3	NP_006713.1	microphthalmia-associated transcription factor isoform 3
NM_198158.3	NP_937801.1	microphthalmia-associated transcription factor isoform 5
NM_198159.3	NP_937802.1	microphthalmia-associated transcription factor isoform 1
NM_198177.3	NP_937820.1	microphthalmia-associated transcription factor isoform 2
NM_198178.3	NP_937821.2	microphthalmia-associated transcription factor isoform 6

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	14737107	GOA
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IMP IMP: Inferred from mutant phenotype	14737107	GOA
enables E-box binding	IDA IDA: Inferred from direct assay	27889061	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	14737107	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15507434	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in negative regulation of cell migration	IMP IMP: Inferred from mutant phenotype	19188590	GOA
involved in negative regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	24769727	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	9647758	GOA
involved in positive regulation of DNA-templated transcription initiation	IDA IDA: Inferred from direct assay	8995290	GOA
involved in positive regulation of gene expression	IDA IDA: Inferred from direct assay	22234890	GOA
involved in positive regulation of gene expression	IMP IMP: Inferred from mutant phenotype	22234890	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	20530484	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	14737107	GOA
involved in protein-containing complex assembly	IDA IDA: Inferred from direct assay	20530484	GOA
involved in regulation of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	27889061	GOA
involved in regulation of RNA biosynthetic process	IDA IDA: Inferred from direct assay	16411896	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	16822840	GOA
located in lysosomal membrane	IDA IDA: Inferred from direct assay	23401004	GOA
is active in nucleus	IDA IDA: Inferred from direct assay	16822840	GOA
located in nucleus	IDA IDA: Inferred from direct assay	27889061	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	20530484	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

MITF Protein Structure

HLH

DUF3371

0
100
200
300
400
419 a.a.

Protein Preferred Names	Protein Names
microphthalmia-associated transcription factor	class E basic helix-loop-helix protein 32

MITF Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	MITF	O75030	TFE3	Homo sapiens	P19532	Anti Tag CoIP	33961781
Intra	MITF	O75030	TFE3	Homo sapiens	P19532	Anti Tag CoIP	15507434
Intra	MITF	O75030	TFEB	Homo sapiens	P19484	Anti Tag CoIP	33961781
Intra	MITF	O75030	TFEB	Homo sapiens	P19484	Anti Tag CoIP	15507434
Intra	MITF	O75030	SUMO1	Homo sapiens	P63165	Anti Tag CoIP	15507434

Cross: Cross-species interaction Intra: Intraspecies interaction

MITF Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P80225	MiTF Antibody (YA292)	WB, ICC/IF, FC	Human, Mouse, Rat
HY-P810742	Phospho-MITF (Ser180) Antibody (YA9985)	WB	Human, Mouse, Rat
HY-P83855	MITF Antibody (YA3552)	WB, FC, ELISA	Human
HY-P83855A	MITF Antibody (YA3552)(PBS only)	WB, FC, ELISA	Human
HY-P86614	MiTF Antibody (YA6306)	WB, IHC-P, ICC/IF, IP, ELISA	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Tietz Albinism-Deafness Syndrome	Tietz Syndrome Albinism-Deafness Of Tietz Hypopigmentation/Deafness Of Tietz Tietze'S Syndrome TADS Costochondral Junction Syndrome Costochondritis Tietze Syndrome Hypopigmentation-Deafness Syndrome Costalchondritis Slipping Rib Syndrome Tietze'S Disease Chondropathia Tuberosa Albinism And Complete Nerve Deafness Tietz'S Syndrome Hypopigmentation-Hearing Loss Syndrome Costal Chondritis Abnormality Of The Costochondral Junction
Melanoma, Cutaneous Malignant 8	Melanoma, Cutaneous Malignant, Susceptibility To, 8 CMM8 Melanoma And Renal Cell Carcinoma Melanoma And Renal Cell Carcinoma, Susceptibility To Mitf-Related Melanoma And Renal Cell Carcinoma Predisposition Syndrome Cutaneous Malignant Melanoma 8 Susceptibility To Melanoma And Renal Cell Carcinoma Melanoma, Cutaneous, Malignant, Susceptibility To, Type 8
Waardenburg Syndrome, Type 2a	Waardenburg Syndrome Type 2a WS2A Waardenburg Syndrome, Type Iia Waardenburg Syndrome Without Dystopia Canthorum Ws2 Waardenburg Syndrome Type Iia Waardenburg Syndrome 2a
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Commad Syndrome COMMAD Coloboma-Osteopetrosis-Microphthalmia-Macrocephaly-Albinism-Deafness Syndrome
Heterochromia Iridis
Waardenburg'S Syndrome	Waardenburg Syndrome Van Der Hoeve Halbertsma Waardenburg Gualdi Syndrome Van Der Hoeve Halbertsona Waardenburg Syndrome Waardenburg Shah Syndrome Waardenburg, Types I And/Or Ii Mende Syndrome Waardenburgs Syndrome Waardenburg Syndrome, Type 4a
Waardenburg Syndrome, Type 2e	Waardenburg Syndrome Type 2 Waardenburg Syndrome Type 2e WS2E Waardenburg Syndrome, Type 2e, With Or Without Neurologic Involvement Waardenburg Syndrome, Type Iie Hypogonadotropic Hypogonadism With Anosmia And Deafness With Or Without Hypopigmentation Waardenburg Syndrome Type 2e With Or Without Neurologic Involvement Waardenburg Syndrome Type Iie Hypogonadotropic Hypogonadism With Anosmia And Deafness, With Or Without Hypopigmentation Ws2e, With Or Without Neurologic Involvement Ws2e With Or Without Neurological Involvement Ws 2 Ws Type 2 Ws2 Waardenburg Syndrome Type Ii Waardenburg Syndrome 2e Kallmann Syndrome And Deafness With Or Without Hypopigmentation Ws2e With Or Without Neurologic Involvement Waardenburg Syndrome Type 2e, Without Neurologic Involvement Ws-2
Waardenburg Syndrome, Type 4a	Waardenburg-Shah Syndrome Shah-Waardenburg Syndrome Waardenburg Syndrome Type 4a WS4A Ws4 Waardenburg Syndrome Type 4 Waardenburg Syndrome Type Iva Waardenburg Syndrome With Hirschsprung Disease Type 4a Hirschsprung Disease With Pigmentary Anomaly Waardenburg-Hirschsprung Syndrome Waardenburg Syndrome, Type Iva Waardenburg Syndrome With Hirschsprung Disease, Type 4a Waardenburg-Hirschsprung Disease Waardenburg Syndrome, Type 4 Waardenburg Syndrome 4a
Ear Malformation	Cup Ear
Non-Syndromic Genetic Deafness	Nonsyndromic Genetic Hearing Loss Isolated Genetic Deafness Isolated Genetic Hearing Loss Non-Syndromic Genetic Hearing Loss
Nonsyndromic Hearing Loss	Nonsyndromic Deafness Nonsyndromic Hearing Impairment Nonsyndromic Hearing Loss And Deafness Deafness, Nonsyndromic Isolated Deafness
Rare Genetic Deafness	Rare Genetic Hearing Loss
Inherited Cancer-Predisposing Syndrome	Hereditary Cancer-Predisposing Syndrome
Bap1 Tumor Predisposition Syndrome	Bap1-Related Tumor Predisposition Syndrome Common Syndrome Bap1 Cancer Syndrome Bap1-Tpds Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, And Other Internal Neoplasms Tumor Predisposition Syndrome Tumor Susceptibility Linked To Germline Bap1 Mutations Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, Other Internal Neoplasms Tumor Predisposition
Microphthalmia	Microphthalmos Isolated Anophthalmia-Microphthalmia Syndrome Isolated Microphthalmia-Anophthalmia-Coloboma Simple Microphthalmos Clinical Anophthalmia Isolated Anophthalmia - Microphthalmia Isolated Pure Microphthalmia Mac Spectrum Microphthalmia-Anophthalmia-Coloboma Spectrum Primitive Anophthalmia Globe Of Eye Small Small Eyeball Hypoplasia Of Eye Isolated Nanophthalmos Rudimentary Eye Dysplasia Of Eye
Clear Cell Papillary Renal Cell Carcinoma
Waardenburg Syndrome, Type 1	Waardenburg Syndrome Type 1 WS1 Waardenburg Syndrome Type I Waardenburg Syndrome With Dystopia Canthorum Waardenburg'S Syndrome Type 1 Waardenburg Syndrome 1 Waardenburg Syndrome, Type I Waardenburg Syndrome
Clear Cell Sarcoma	Sarcoma, Clear Cell Adult Soft Part Clear Cell Sarcoma Clear Cell Sarcoma Of Soft Parts Malignant Melanoma Of Soft Parts Malignant Melanoma Of Soft Tissues Melanoma, Malignant, Of Soft Parts Sarcoma Clear Cell
Osteopetrosis	Marble Bone Disease Albers-Schonberg Disease Osteopetroses Marble Bones Osteopetrosis And Related Disorders Congenital Osteopetrosis Marble Bone Albers-Schoenberg Disease Albers-Schonberg Osteopetrosis Osteosclerosis Fragilis Ivory Bones
Angiomyolipoma	Angiomyolipoma Of Kidney
Melanoma	Malignant Melanoma Cutaneous Melanoma Naevocarcinoma Malignant Melanomas
Renal Cell Carcinoma, Papillary, 1	Papillary Renal Cell Carcinoma Hereditary Papillary Renal Cell Carcinoma Papillary Renal Cell Carcinoma, Sporadic Papillary Renal Cell Adenocarcinoma RCCP RCCP1 Renal Cell Carcinoma, Papillary Renal Cell Carcinoma, Papillary, 1, Familial And Somatic Chromophil Carcinoma Of Kidney Papillary Kidney Carcinoma Sporadic Papillary Renal Cell Carcinoma Chromophil Renal Cell Carcinoma Papillary Renal Carcinoma, Malignant - Papillary Renal Cell Carcinoma, Bilateral - Papillary Renal Cell Carcinoma, Familial - Papillary Renal Cell Carcinoma, Multiple - Papillary Renal Cell Carcinoma, Sporadic - Renal Adenocarcinoma Chromophil Rcc Hprcc Renal Cell Carcinoma Papillary Chromophilic Renal Cell Carcinoma Prcc Carcinoma, Renal Cell, Papillary, Type 1 Type 1 Papillary Renal Cell Carcinoma Renal Cell Carcinoma Hereditary Papillary Renal Carcinoma
Pigmentation Disease	Pigmentation Disorders Skin Pigmentation Disorder
Melanoma, Cutaneous Malignant 1	Familial Melanoma Melanoma, Cutaneous Malignant, Susceptibility To, 1 Melanoma, Malignant CMM1 Melanoma, Cutaneous Malignant Cmm Familial Atypical Mole-Malignant Melanoma Syndrome Fammm Melanoma, Familial Mlm Dysplastic Nevus Syndrome, Hereditary Dns B-K Mole Syndrome Melanoma, Cutaneous Malignant, 1 Malignant Melanoma, Cutaneous Melanoma, Cutaneous, Malignant, Susceptibility To, Type 1 Dysplastic Nevus Syndrome Cutaneous Melanoma Familial Atypical Mole Melanoma Syndrome Hereditary Melanoma
Neurofibroma	Neurofibromas Neurofibromatoses Nerve Sheath Tumors
Fibrous Histiocytoma	Benign Fibrous Histiocytoma Histiocytoma, Benign Fibrous Fibroxanthoma Histiocytoma Fibrous
Melanoma In Congenital Melanocytic Nevus	Malignant Melanoma In Congenital Melanocytic Nevus Melanocytic Nevi Nevi Melanocytic
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Albinism-Deafness Syndrome	Alds Albinism Deafness Syndrome ADFN Albinism-Hearing Loss Syndrome
Pycnodysostosis	Pyknodysostosis PKND Pycd Toulouse-Lautrec Syndrome
Waardenburg Syndrome, Type 3	Waardenburg Syndrome Type 3 Klein-Waardenburg Syndrome WS3 Waardenburg Syndrome With Upper Limb Anomalies Waardenburg Syndrome Type Iii Waardenburg Syndrome, Type Iii White Forelock Syndrome With Multiple Congenital Malformations Waardenburg Syndrome With Limb Anomalies Waardenburg Syndrome 3 White Forelock With Malformations Klein'S Syndrome
Albinism
Piebald Trait	Piebaldism PBT Partial Albinism Albinoidism, Oculocutaneous, Autosomal Dominant
Autosomal Dominant Intellectual Developmental Disorder 19	Autosomal Dominant Non-Syndromic Intellectual Disability 19 Autosomal Dominant Mental Retardation 19 Mrd19
Hereditary Breast Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer Breast And/Or Ovarian Cancer Breast And Ovarian Cancer Syndrome Hboc Syndrome Hereditary Breast And Ovarian Cancer Brca1- Brca2-Associated Hboc
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1	Vitiligo VAMAS1 Slev1 Vtlg Systemic Lupus Erythematosus, Vitiligo-Related Vitiligo-Associated Multiple Autoimmune Disease 1 Systemic Lupus Erythematosus Vitiligo-Related
Mastocytosis	Mast Cell Disease Mast Cell Hyperplasia Urticaria Pigmentosa Malignant Mastocytoma Malignant Mast Cell Tumours Malignant Mastocytosis
Ocular Albinism	Albinism, Ocular Oa Xloa Albinism Ocular
Nodular Malignant Melanoma	Nodular Melanoma
Malignant Spindle Cell Melanoma	Spindle Cell Melanoma Desmoplastic Melanoma Spindle Cell Malignant Melanoma Spitzoid Malignant Melanoma
Epithelioid Cell Melanoma	Epithelioid Melanoma
Perivascular Epithelioid Cell Tumor	Pecoma Perivascular Epithelioid Cell Neoplasms Neoplasm With Perivascular Epithelioid Cell Differentiation
Pigmented Basal Cell Carcinoma	Skin Pigmented Basal Cell Carcinoma
Melanoma, Uveal	Uveal Melanoma Choroidal Melanoma Melanoma Of Uvea Iris Melanoma Malignant Melanoma Of Choroid Malignant Melanoma Of Iris
Pendred Syndrome	Goiter-Deafness Syndrome Deafness With Goiter PDS Thyroid Dyshormonogenesis 2b Tdh2b Autosomal Recessive Sensorineural Hearing Impairment And Goiter Pendred'S Syndrome Thyroid Hormonogenesis, Genetic Defect In, 2b Hypothyroidism, Congenital, Due To Dyshormonogenesis, 2b Congenital Hypothyroidism Due To Dyshormonogenesis 2b Genetic Defect In Thyroid Hormonogenesis 2b Autosomal Recessive Sensorineural Hearing Impairment, Enlarged Vestibular Aqueduct, And Goiter Goiter-Hearing Loss Syndrome Goitre-Deafness Syndrome Goitre Deafness
Waardenburg Syndrome, Type 2c	Waardenburg Syndrome Type 2c WS2C Waardenburg Syndrome, Type Iic Waardenburg Syndrome Type Iic
Oculocutaneous Albinism	Albinism, Oculocutaneous Oca Albinism Oculocutaneous Oca - [Oculocutaneous Albinism]
Waardenburg Syndrome, Type 4c	Waardenburg Syndrome Type 4c WS4C Waardenburg Syndrome Type Ivc Waardenburg Syndrome With Hirschsprung Disease Type 4c Waardenburg Syndrome With Hirschsprung Disease, Type 4c Waardenburg Syndrome, Type Ivc Waardenburg Syndrome 4c Hirschsprung Disease With Pigmentary Anomaly Shah-Waardenburg Syndrome Waardenburg-Shah Syndrome Waardenburg Syndrome, Type 4a
Waardenburg Syndrome, Type 2b	Waardenburg Syndrome Type 2b WS2B Waardenburg Syndrome, Type Iib Waardenburg Syndrome Type Iib
Gallbladder Melanoma	Malignant Melanoma Of Gallbladder
Acral Lentiginous Melanoma	Acral Lentiginous Melanoma, Malignant Malignant Acral Lentiginous Melanoma Alm Acral Lentiginous Malignant Melanoma Of Skin Palmar/Plantar Melanoma Subungual Melanoma Acral Lentiginous Malignant Melanoma
Perivascular Tumor	Malignant Perivascular Cancer
Malignant Peripheral Nerve Sheath Tumor	Mpnst Malignant Neurilemmoma Neurofibrosarcoma Malignant Neurofibroma Malignant Schwannoma Neurogenic Sarcoma Schwannoma, Malignant Malignant Neoplasm Of The Peripheral Nerve Sheath Malignant Peripheral Nerve Sheath Tumors
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Pcwh Syndrome PCWH Neurologic Waardenburg-Shah Syndrome Waardenburg-Shah Syndrome, Neurologic Variant Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Hirschsprung Disease-Waardenburg Syndrome Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease Ws4 Plus Peripheral Demyelinating Neuropathy, Central Dysmyelinating Leukodystrophy, Waardenburg Syndrome And Hirschsprung Disease Waardenburg-Shah Syndrome Neurologic Variant
Albinism, Ocular, With Late-Onset Sensorineural Deafness	Ocular Albinism With Sensorineural Deafness OASD Deafness And Ocular Albinism Ocular Albinism With Late-Onset Sensorineural Deafness Albinism, Ocular, With Sensorineural Deafness Autosomal Recessive Waardenburg Syndrome Type 2 With Ocular Albinism Digenic Waardenburg Syndrome/Albinism Digenic Waardenburg Syndrome/Ocular Albinism Ws2-Oa Albinism Ocular Late Onset Sensorineural Deafness Ocular Albinism With Late-Onset Sensorineural Hearing Loss Waardenburg Syndrome/Ocular Albinism, Digenic Waardenburg Syndrome/Albinism, Digenic Ocular Albinism And Sensorineural Deafness
Ochronosis
Mucosal Melanoma
Waardenburg Syndrome, Type 2d	Waardenburg Syndrome Type 2d WS2D Waardenburg Syndrome, Type Iid Waardenburg Syndrome Type Iid Waardenburg Syndrome 2d
Amelanotic Melanoma	Melanoma, Amelanotic Melanoma Amelanotic Amelanotic Skin Melanoma
Dowling-Degos Disease 1	Reticular Pigment Anomaly Of Flexures DDD1 Ddd Hyperpigmentation Dowling-Degos Disease
Meningeal Melanoma	Melanoma Of The Leptomeninges Leptomeningeal Melanoma
Malignant Leptomeningeal Tumor	Malignant Leptomeningeal Tumour Malignant Tumor Of Leptomeninges Malignant Tumour Of Leptomeninges Malignant Leptomeningeal Neoplasm
Childhood Kidney Cell Carcinoma	Pediatric Renal Cell Carcinoma Childhood Renal Cell Carcinoma
Cowden Syndrome 4	CWS4 Cowden Syndrome, Type 4
Uterus Perivascular Epithelioid Cell Tumor	Uterine Corpus Pecoma
Neurilemmoma	Schwannoma Benign Schwannoma Neurilemoma Peripheral Fibroblastoma Psammomatous Schwannoma Neurolemmoma Schwannomas
Epithelioid Type Angiomyolipoma	Epithelioid Angiomyolipoma
Paraganglioma	Chemodectoma Glomus Body Tumor Paragangliomas Carotid Body Paraganglioma Extra-Adrenal Paraganglioma
Cutaneous Ganglioneuroma	Ganglioneuroma Of Skin
Benign Giant Cell Tumor	Giant Cell Tumors
Alveolar Soft Part Sarcoma	ASPS Alveolar Soft-Part Sarcoma Sarcoma, Alveolar Soft Part Alveolar Soft Tissue Sarcoma Sarcoma Alveolar Soft Part Adult Alveolar Soft-Part Sarcoma Childhood Alveolar Soft-Part Sarcoma
Macular Degeneration, Age-Related, 7	Age Related Macular Degeneration 7 ARMD7 Macular Degeneration, Age-Related, Neovascular Type Susceptibility To Neovascular Type Of Age-Related Macular Degeneration Macular Degeneration, Age-Related, Type 7
Hirschsprung Disease 1	Hirschsprung Disease Aganglionic Megacolon Hscr Hirschsprung'S Disease Congenital Megacolon Congenital Intestinal Aganglionosis Colonic Aganglionosis Hirschsprung Disease, Susceptibility To, 1 Hirschsprung Disease, Protection Against HSCR1 Mgc Pelvirectal Achalasia Total Intestinal Aganglionosis Megacolon, Aganglionic Macrocolon Hscr 1 Hirschsprung Disease Type 1 Hirschsprung Disease, Type 1 Congenital Dilatation Of Colon Aganglionosis Congenital Aganglionic Megacolon Aganglionosis Of Colon Bowel Aganglionosis Colon Aganglionosis Hirschsprung Megacolon
Large Congenital Melanocytic Nevus	Giant Pigmented Hairy Nevus Giant Congenital Melanocytic Nevus Gmn Congenital Pigmented Nevus Lcmn Gphn Giant Congenital Nevus Bathing Trunk Nevus Congenital Giant Pigmented Nevus Congenital Hairy Nevus Giant Hairy Nevus Giant Pigmented Nevus Congenital Giant Pigmented Nevus Of Skin Congenital Melanocytic Nevus Syndrome Giant Congenital Melanocytic Nevi Giant Congenital Pigmented Nevus Melanocytic Nevus Syndrome, Congenital
Skin Carcinoma	Skin Cancer Carcinoma Of Skin Ca - Skin Cancer Cancer Of Skin Malignant Neoplasm Of Skin Melanoma And Non-Melanoma Skin Cancer Skin Cancers Cancer, Skin
Hepatic Angiomyolipoma
Cutaneous Fibrous Histiocytoma	Dermatofibroma Fibrohistiocytic Tumor Benign Cutaneous Fibrous Histiocytoma Fibrous Histiocytoma Of Skin Fibrous Xanthoma Of Skin Pleomorphic Fibroma Sclerosing Angioma Sclerosing Angioma Of Skin Fibrous Histiocytoma
Kidney Angiomyolipoma	Angiomyolipoma Of Kidney Renal Angiomyolipoma
Vascular Cancer	Blood Vessel Tumors Malignant Vascular Neoplasm Renal Vein Leiomyosarcoma Vascular Neoplasms Blood Vessel Neoplasm Blood Vessel Tumor Blood Vessel Tumour Disorder Haemangiomatous Tumour Leiomyosarcoma Of The Renal Vein Malignant Great Vessel Tumor Malignant Tumor Of Pulmonary Artery Malignant Tumor Of Pulmonary Vein Malignant Vascular Tumor Neoplasm Of Great Vessel Pulmonary Artery Malignant Neoplasm Pulmonary Vein Malignant Neoplasm Vascular Tissue Neoplasm Vascular Tumors Blood Vessel Cancer Neoplasms, Vascular Tissue Malignant Neoplasm Of Great Vessels
Keratosis, Seborrheic	Seborrheic Keratosis Keratosis, Seborrheic, Somatic Basal Cell Papilloma Keratosis Seborrheica KERSEB
Renal Cell Carcinoma, Nonpapillary	Renal Cell Carcinoma RCC Nonpapillary Renal Cell Carcinoma Clear Cell Renal Cell Carcinoma Hypernephroma Adenocarcinoma Of Kidney Renal Carcinoma, Chromophobe, Somatic Clear Cell Carcinoma Of Kidney Clear-Cell Metastatic Renal Cell Carcinoma Clear Cell Renal Carcinoma Renal Cell Carcinoma, Somatic Conventional Renal Cell Carcinoma Conventional Renal Cell Carcinoma Renal Clear Cell Carcinoma Ccrcc Hereditary Clear Cell Renal Cell Carcinoma Carcinoma, Renal Cell Renal Cell Carcinoma, Clear Cell, Somatic Renal Cell Carcinoma, Clear Cell Clear Cell Kidney Carcinoma Clear Cell Rcc Cystic-Multilocular Variant Clear Cell Renal Cell Adenocarcinoma Hereditary Clear Cell Renal Cell Adenocarcinoma Common Renal Cell Carcinoma Crcc Renal Cell Carcinoma Non-Papillary Carcinoma Renal Cell Renal Cell Cancer Carcinoma, Renal Cell, Nonpapillary
Skin Melanoma	Cutaneous Melanoma Malignant Ear Melanoma Malignant Lip Melanoma Malignant Lower Limb Melanoma Malignant Melanoma Of Ear And/Or External Auricular Canal Malignant Melanoma Of Skin Of Lower Limb Malignant Melanoma Of Skin Of Trunk Except Scrotum Malignant Melanoma Of Skin Of Upper Limb Malignant Neck Melanoma Malignant Scalp Melanoma Malignant Trunk Melanoma Malignant Upper Limb Melanoma Melanoma, Cutaneous Malignant Melanoma Malignant Melanoma Of Skin Melanoma Nos Malignant Mole, Meaning Melanoma Of Unspecified Site Melanoma Of Unspecified Site Cutaneous Malignant Melanoma Mm - [Malignant Melanoma]
Spinal Cord Melanoma	Melanoma Of The Spinal Cord
Pheochromocytoma	Pheochromocytoma, Susceptibility To Phaeochromocytoma Adrenal Gland Chromaffin Paraganglioma Adrenal Gland Chromaffinoma Adrenal Gland Paraganglioma Adrenal Gland Pheochromocytoma Chromaffin Paraganglioma Of The Adrenal Gland Intraadrenal Paraganglioma PCC Chromaffin Cell Tumor Medullary Chromaffinoma Medullary Paraganglioma Pheochromoblastoma Pheochromocytomas Chromaffin Cell Neoplasm Pheochromocytoma, Malignant
Cervix Melanoma
Charcot-Marie-Tooth Disease	Cmt Hmsn Hereditary Motor And Sensory Neuropathy Pma Cmt - Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Syndrome Peroneal Muscular Atrophy Hereditary Motor And Sensory Neuropathies
Ocular Melanoma	Intraocular Melanoma Uveal Melanoma Eye Melanoma Melanoma Of Eye Melanoma Of The Uvea Malignant Melanoma Of Eye
Skin Disease	Skin Diseases Genodermatosis Abnormality Of The Skin Skin Diseases, Genetic Skin And Subcutaneous Tissue Disease Dermatologic Disorders
Uveal Disease	Uveal Diseases
Coloboma Of Macula	Coloboma Congenital Ocular Coloboma Microphthalmia, Isolated, With Coloboma Agenesis Of Macula Hereditary Macular Coloboma Ocular Coloboma Coloboma Of Eye Macular Coloboma Uveoretinal Coloboma
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

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

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Phase
HY-113337	Ap4A	Inducer	/	Phase 2

Pre-clinical Phase

Bioactive Molecules (32)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-101464	ML329	Inhibitor	98.0%	Unkown
HY-156483	TT-012	Inhibitor	99.76%	Unkown
HY-113337A	Ap4A tetraammonium	Inducer	99.98%	Unkown
HY-D0168	Orcinol		99.97%	Unkown
HY-N1775	3',4'-Dihydroxyacetophenone		99.92%	Unkown
HY-N1481	Methyl linoleate	Inhibitor	98.0%	Unkown
HY-N2413	Gomisin D		99.56%	Unkown
HY-N2983	Cajanin	Inhibitor	99.96%	Unkown
HY-179717	WZS0347	Degrader	99.06%	Unkown
HY-N2204	Swertiajaponin	Inhibitor	98.53%	Unkown
HY-169363	PDL1 degrader-2		99.41%	Unkown
HY-N12267	N,N′-Diferuloylputrescine	Inhibitor	97.0%	Unkown
HY-179718	TT-012-Br	Degrader	96.49%	Unkown
HY-N10016	Chlorogenic acid butyl ester	Inhibitor	98.19%	Unkown
HY-N4280	7,8-Dimethoxycoumarin	Inhibitor	99.75%	Unkown
HY-RS08467	MITF Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-124857	7DG	Inhibitor	98%	Unkown
HY-N6901	Luteolin 7-sulfate		≥95.0%	Unkown
HY-RS16290	Mitf Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-120996	10(E)-Pentadecenoic acid	Inhibitor	99.90%	Unkown
HY-159917	PPL agonist-1		/	Unkown
HY-179720	TT-012-NH-C7-NHBoc		/	Unkown
HY-N0113A	Hordenine sulfate		/	Unkown
HY-N10437	6-Acetylnimbandiol	Inhibitor	/	Unkown
HY-N17896	Pinoresinol-4-O-β-D-apiosyl-(1→2)β-D-glucoside		/	Unkown
HY-N3810	ent-11α-Hydroxy-15-oxokaur-16-en-19-oic acid	Inhibitor	/	Unkown
HY-P4497	Prolylserine		/	Unkown
HY-157010	AP736	Inhibitor	/	Unkown
HY-174580	Human MITF mRNA		/	Unkown
HY-N10623	5-epi-Arvestonate A	Activator	/	Unkown
HY-RS17594	Tff3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23266	Mitf Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	MITF	VGNC	VGNC:31487
Macaca mulatta	MITF	VGNC	VGNC:74874
Canis familiaris	MITF	VGNC	VGNC:43248
Mus musculus	MITF	MGD	MGI:104554
Rattus norvegicus	MITF	RGD	RGD:3092
Felis catus	MITF	VGNC	VGNC:68261
Others	MITF	NCBI