SOX10 - SRY-box transcription factor 10 Gene

Also Known as DOM; WS4; PCWH; WS2E; WS4C; SOX-10

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6663

About SOX10

Cytogenetic location: 22q13.1 Genomic coordinates (GRCh38): 22:37,972,312-37,984,555 (from NCBI)

This gene has 9 transcripts (splice variants), 267 orthologues, 20 paralogues and is associated with 11 phenotypes. Biased expression in salivary gland (RPKM 23.7), brain (RPKM 19.6) and 7 other tissues.

Summary

This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with Other proteins. This protein acts as a nucleocytoplasmic shuttle protein and is important for neural crest and peripheral nervous system development. Mutations in this gene are associated with Waardenburg-Shah and Waardenburg-Hirschsprung disease. [provided by RefSeq, Jul 2008]

SOX10 Products (1)

mRNA	Protein	Name
NM_006941.4	NP_008872.1	transcription factor SOX-10

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	11029584	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11029584	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in nucleus	IDA IDA: Inferred from direct assay	18512230	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

SOX10 Protein Structure

Sox_N

HMG_box

0
100
200
300
400
466 a.a.

Protein Preferred Names	Protein Names
transcription factor SOX-10	SRY (sex determining region Y)-box 10

SOX10 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	SOX10	P56693	POU3F2	Homo sapiens	P20265	Y2H	11029584
Intra	SOX10	P56693	POU3F2	Homo sapiens	P20265	Pull Down	11029584
Intra	SOX10	P56693	MAGED1	Homo sapiens	Q9Y5V3	Validated Y2H	32296183
Intra	SOX10	P56693	KAT5	Homo sapiens	Q92993	Validated Y2H	32814053
Intra	SOX10	P56693	C10orf55	Homo sapiens	Q5SWW7	Y2H Prey Pooling	32296183
Intra	SOX10	P56693	MAGED1	Homo sapiens	Q9Y5V3	Y2H Array	32296183
Intra	SOX10	P56693	POU6F2	Homo sapiens	P78424	Validated Y2H	32296183
Intra	SOX10	P56693	C10orf55	Homo sapiens	Q5SWW7	Validated Y2H	32296183
Intra	SOX10	P56693	CRX	Homo sapiens	O43186	Y2H Prey Pooling	32296183
Intra	SOX10	P56693	HSF4	Homo sapiens	Q9ULV5-2	Y2H Prey Pooling	32296183
Intra	SOX10	P56693	POU6F2	Homo sapiens	P78424	Y2H Prey Pooling	32296183
Intra	SOX10	P56693	DAZAP2	Homo sapiens	Q15038	Y2H Prey Pooling	32296183
Intra	SOX10	P56693	C10orf55	Homo sapiens	Q5SWW7	Y2H Array	32296183
Intra	SOX10	P56693	MAGED1	Homo sapiens	Q9Y5V3	Y2H Prey Pooling	32296183
Intra	SOX10	P56693	HSF4	Homo sapiens	Q9ULV5-2	Validated Y2H	32296183
Intra	SOX10	P56693	KAT5	Homo sapiens	Q92993	Y2H Array	32814053
Intra	SOX10	P56693	DAZAP2	Homo sapiens	Q15038	Validated Y2H	32296183
Intra	SOX10	P56693	CRX	Homo sapiens	O43186	Y2H Array	32296183
Intra	SOX10	P56693	HSF4	Homo sapiens	Q9ULV5-2	Y2H Array	32296183
Intra	SOX10	P56693	PPIA	Homo sapiens	P62937-2	Y2H Array	32814053
Intra	SOX10	P56693	POU6F2	Homo sapiens	P78424	Y2H Array	32296183
Intra	SOX10	P56693	DAZAP2	Homo sapiens	Q15038	Y2H Array	32296183
Intra	SOX10	P56693	KAT5	Homo sapiens	Q92993	Y2H Pooling	32814053
Intra	SOX10	P56693	PAX3	Homo sapiens	P23760	Y2H	11029584
Intra	SOX10	P56693	PAX3	Homo sapiens	P23760	Pull Down	11029584
Intra	SOX10	P56693	PRKCA	Homo sapiens	P17252	Y2H Array	32814053
Intra	SOX10	P56693	PRKCA	Homo sapiens	P17252	Validated Y2H	32814053
Intra	SOX10	P56693	PRKCA	Homo sapiens	P17252	Y2H Pooling	32814053
Intra	SOX10	P56693	PPIA	Homo sapiens	P62937-2	Validated Y2H	32814053
Intra	SOX10	P56693	PPIA	Homo sapiens	P62937-2	Y2H Pooling	32814053
Intra	SOX10	P56693	YWHAG	Homo sapiens	P61981	Validated Y2H	32814053
Intra	SOX10	P56693	YWHAG	Homo sapiens	P61981	Y2H Array	32814053
Intra	SOX10	P56693	YWHAG	Homo sapiens	P61981	Y2H Pooling	32814053
Intra	SOX10	P56693	SUMO1	Homo sapiens	P63165	Anti Tag CoIP	16494873
Intra	SOX10	P56693	UBE2I	Homo sapiens	P63279	Y2H	16494873
Intra	SOX10	P56693	SETDB1	Homo sapiens	Q15047-2	Validated Y2H	32814053
Intra	SOX10	P56693	SETDB1	Homo sapiens	Q15047-2	Y2H Array	32814053
Intra	SOX10	P56693	SETDB1	Homo sapiens	Q15047-2	Y2H Pooling	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

SOX10 Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P80331	SOX10 Antibody (YA069)	WB, IHC-P, ICC/IF, FC	Human, Mouse, Rat
HY-P84413	SOX10 Antibody (YA4110)	IHC-P, ELISA	Human
HY-P84413A	SOX10 Antibody (YA4110)(PBS only)	IHC-P, ELISA	Human
HY-P85889	SOX10 Antibody (YA5581)	WB, ICC/IF, ELISA	Human, Mouse, Rat
HY-P86226	SOX10 Antibody (YA5918)	WB, IHC-P, ICC/IF, IP, ELISA	Human, Mouse, Rat
HY-P87082	SOX10 Antibody (YA6775)	IHC-F, IHC-P, IF-Tissue	Mouse, Rat

Related Diseases

Diseases	Alias
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
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 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 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
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
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
Kallmann Syndrome	Hypogonadism With Anosmia Kallman'S Syndrome Anosmic Hypogonadism Anosmic Idiopathic Hypogonadotropic Hypogonadism Hypogonadotropic Hypogonadism And Anosmia Hypogonadotropic Hypogonadism-Anosmia Syndrome Olfacto-Genital Pathological Sequence Familial Hypogonadism With Anosmia Kallman Syndrome Dysplasia Olfactogenitalis Of De Morsier Kallmann'S Syndrome Congenital Hypogonadotropic Hypogonadism With Anosmia
Rare Genetic Deafness	Rare Genetic Hearing Loss
Megacolon	Dilatation Of Colon
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
Yemenite Deaf-Blind Hypopigmentation Syndrome	Warburg-Thomsen Syndrome Warburg Thomsen Syndrome Yemenite Deaf-Blind Hypopigmentation Syndrome Deaf Blind Hypopigmentation Syndrome, Yemenite Type YDBHS
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
Campomelic Dysplasia	Acampomelic Campomelic Dysplasia Camptomelic Dysplasia Campomelic Dysplasia With Autosomal Sex Reversal Cmpd CMD1 Cmpd1 Cmpd1/Sra1 Acampomelic Campomelic Dysplasia With Autosomal Sex Reversal Campomelic Dwarfism Campomelic Syndrome Dysplasia, Campomelic Chronic Myeloproliferative Disorder Familial Dilated Cardiomyopathy
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
Mammary Analogue Secretory Carcinoma
Intestinal Pseudo-Obstruction	Chronic Intestinal Pseudoobstruction Chronic Intestinal Pseudo-Obstruction Cipo Neuronal Intestinal Dysplasia Hollow Visceral Myopathy Familial Visceral Neuropathy Paralytic Ileus Intestinal Pseudoobstruction Chronic Idiopathic Intestinal Pseudo-Obstruction Ciip Congenital Short Bowel Syndrome Enteric Neuropathy Familial Visceral Myopathy Ipo Pseudo-Obstruction Of Intestine Pseudointestinal Obstruction Syndrome Pseudoobstructive Syndrome Congenital Idiopathic Intestinal Pseudoobstruction Visceral Myopathy, Familial
Leukodystrophy	Leukodystrophies
Pilocytic Astrocytoma	Juvenile Pilocytic Astrocytoma Grade I Astrocytic Tumor Piloid Astrocytoma
Inner Ear Disease	Labyrinthine Dysfunction Diseases Of Inner Ear Labyrinthine Disease Abnormality Of The Inner Ear Labyrinth Diseases Labyrinthine Disorder Nonfunctioning Labyrinth Labyrinthine Loss Of Function Labyrinthine Syndrome Labyrinthine Disorder Nos
Cellular Schwannoma	Cellular Neurinoma
Epithelioid Malignant Peripheral Nerve Sheath Tumor	Epithelioid Mpnst Malignant Epithelioid Neoplasm Of The Peripheral Nerve Sheath
Malignant Spindle Cell Melanoma	Spindle Cell Melanoma Desmoplastic Melanoma Spindle Cell Malignant Melanoma Spitzoid Malignant Melanoma
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
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
Cellular Neurofibroma
Neurofibroma Of The Esophagus
Waardenburg Syndrome, Type 2c	Waardenburg Syndrome Type 2c WS2C Waardenburg Syndrome, Type Iic Waardenburg Syndrome Type Iic
Spinal Cord Melanoma	Melanoma Of The Spinal Cord
Waardenburg Syndrome, Type 2b	Waardenburg Syndrome Type 2b WS2B Waardenburg Syndrome, Type Iib Waardenburg Syndrome Type Iib
Neurilemmoma	Schwannoma Benign Schwannoma Neurilemoma Peripheral Fibroblastoma Psammomatous Schwannoma Neurolemmoma Schwannomas
Waardenburg Syndrome, Type 2d	Waardenburg Syndrome Type 2d WS2D Waardenburg Syndrome, Type Iid Waardenburg Syndrome Type Iid Waardenburg Syndrome 2d
Neurofibroma	Neurofibromas Neurofibromatoses Nerve Sheath Tumors
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
Neuropathy	Peripheral Neuropathy Peripheral Neuropathies
Salivary Gland Carcinoma	Salivary Gland Cancer Malignant Neoplasm Of Salivary Gland Salivary Gland Neoplasms
Oligodendroglioma	Oligodendroglial Neoplasm Oligodendroglial Tumor Oligodendroglial Tumors Well Differentiated Oligodendroglioma
Plexiform Schwannoma	Plexiform Neurilemmoma Plexiform Neurinoma
Atypical Neurofibroma
Myoepithelial Carcinoma	Malignant Myoepithelioma Myoepithelioma Carcinoma
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
Lipofibromatosis-Like Neural Tumor
Conjunctival Pigmentation
Intraneural Perineurioma
Malignant Giant Cell Tumor Of The Tendon Sheath	Giant Cell Tumour Of Tendon Sheath, Malignant Malignant Giant Cell Neoplasm Of The Tendon Sheath
Bilateral Hypoactive Labyrinth	Hypoactive Bilateral Labyrinthine Dysfunction Hypoactive Labyrinth, Bilateral
Melanotic Neurilemmoma	Melanotic Schwannoma Pigmented Neurilemmoma Pigmented Schwannoma
Endobronchial Lipoma
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
Sarcomatoid Basal Cell Carcinoma	Skin Sarcomatoid Basal Cell Carcinoma
Malignant Granular Cell Myoblastoma	Malignant Granular Cell Tumor Granular Cell Tumor, Malignant Malignant Granular Cell Neoplasm
Spiradenoma	Eccrine Spiradenoma Benign Eccrine Spiradenoma Eccrine Spiradenoma Of Skin Es Eccrine Spiradenoma, Benign
Gallbladder Melanoma	Malignant Melanoma Of Gallbladder
Demyelinating Polyneuropathy	Peripheral Demyelinating Neuropathy Demyelinating Peripheral Neuropathy
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
Small Intestine Leiomyosarcoma	Leiomyosarcoma Of The Small Bowel Smooth Muscle Connective Tissue Tumor Leiomyosarcoma Of Small Intestine
Sweat Gland Benign Neoplasm	Neoplasm Of Sweat Gland Sweat Gland Tumor Tumor Of The Sweat Gland Sweat Gland Neoplasms Sweat Gland Neoplasm
Epithelial-Myoepithelial Carcinoma	Clear Cell Adenoma Adenomyo-Epithelioma Clear Cell Carcinoma Emc Epithelial Myoepithelial Carcinoma Glycogen-Rich Adenocarcinoma Glycogen-Rich Adenoma Monomorphic Clear Cell Tumor Tubular Solid Adenoma Adenocarcinoma, Clear Cell
Solitary Fibrous Tumor/Hemangiopericytoma	Sft/Hpc
Combined Oxidative Phosphorylation Deficiency 13	COXPD13 Combined Oxidative Phosphorylation Defect Type 13 Combined Oxidative Phosphorylation Deficiency, Type 13
Sarcomatoid Squamous Cell Skin Carcinoma	Spindle Cell Squamous Cell Carcinoma Spindle Cell Squamous Cell Carcinoma Spindle Cell Squamous Cell Skin Carcinoma Spindle Cell Squamous Carcinoma Of Skin Squamous Cell Carcinoma, Sarcomatoid
Paraganglioma	Chemodectoma Glomus Body Tumor Paragangliomas Carotid Body Paraganglioma Extra-Adrenal Paraganglioma
Amelanotic Melanoma	Melanoma, Amelanotic Melanoma Amelanotic Amelanotic Skin Melanoma
Malignant Glandular Tumor Of Peripheral Nerve Sheath	Glandular Mpnst Glandular Malignant Peripheral Nerve Sheath Tumor
Breast Granular Cell Tumor
Mowat-Wilson Syndrome	MOWS Microcephaly, Mental Retardation, And Distinct Facial Features, With Or Without Hirschsprung Disease Hirschsprung Disease-Mental Retardation Syndrome Mowat-Wilson Syndrome Due To Monosomy 2q22 Hirschsprung Disease Mental Retardation Syndrome Microcephaly, Mental Retardation, And Distinct Facial Featrues, With Or Without Hirschprung Disease Hirschsprung Disease - Intellectual Disability Syndrome Hirschsprung Disease Intellectual Disability Syndrome Intellectual Disability, Microcephaly, And Distinct Facial Features With Or Without Hirschsprung Disease Mws Hirschsprung Disease-Intellectual Disability Syndrome Hirschsprung Disease And Intellectual Disability Due To 2q22 Microdeletion Hirschsprung Disease And Intellectual Disability Due To Del(2)(Q22) Hirschsprung Disease And Intellectual Disability Due To Monosomy 2q22 Mowat-Wilson Syndrome Due To 2q22 Microdeletion Mowat-Wilson Syndrome Due To Del(2)Q(22) Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation Hirschsprung Disease And Intellectual Disability Due To A Zeb2 Point Mutation
Pericytoma With T(7;12)
Charcot-Marie-Tooth Disease And Deafness	Charcot-Marie-Tooth Disease Type 1e CMT1E Charcot-Marie-Tooth Disease Type 1 Hereditary Motor And Sensory Neuropathy Type 1 Charcot-Marie-Tooth Disease, Demyelinating, Type 1e Charcot-Marie-Tooth Disease, Type I Charcot-Marie-Tooth Neuropathy And Deafness, Autosomal Dominant Charcot-Marie-Tooth Disease, Type 1e Charcot-Marie-Tooth Disease Demyelinating Type 1e Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease Cmt1 Charcot-Marie-Tooth Neuropathy Type 1 Autosomal Dominant Charcot-Marie-Tooth Neuropathy And Deafness Charcot-Marie-Tooth Disease-Deafness Charcot-Marie-Tooth Type 1 Hmsn1 Hereditary Motor And Sensory Neuropathy 1 Cmt 1e Charcot Marie Tooth Disease Type 1e Charcot-Marie-Tooth Disease-Deafness Syndrome Charcot-Marie-Tooth Disease-Hearing Loss Syndrome Charcot-Marie-Tooth Disease 1e Charcot-Marie-Tooth Disease And Deafness Autosomal Dominant Charcot-Marie-Tooth Neuropathy Type 1e Charcot-Marie-Tooth Disease, Type Ie Hereditary Motor And Sensory Neuropathy Type I
Syringocystadenoma Papilliferum	Fistulous Vegetative Verrucous Hydradenoma Papillary Syringadenoma Naevus Syringocystadenomatosus Papilliferus Papillary Syringocystadenoma Scap Syringadenoma Papilliferum Papillary Hidradenoma
Monophasic Synovial Sarcoma	Monophasic Sarcoma Of Synovium
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Charcot-Marie-Tooth Disease Type 4 Charcot-Marie-Tooth Disease Type 4e Hereditary Motor And Sensory Neuropathy Cmt4e CHN1 Hypomyelinating Neuropathy, Congenital, 1 Charcot-Marie-Tooth Neuropathy Type 4e Neuropathy, Congenital Hypomyelinating, 1 Ar-Cmt1 Autosomal Recessive Demyelinating Charcot-Marie-Tooth Cmt4 Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive Hypomyelination, Severe Congenital Charcot-Marie-Tooth Disease, Type 4e Charcot-Marie-Tooth Neuropathy, Type 4e Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy Autosomal Recessive Congenital Hypomyelinating Neuropathy Congenital Amyelinating Neuropathy Congenital Hypomyelinating Neuropathy Autosomal Recessive Neuropathy, Congenital Hypomyelinating Or Amyelinating Severe Congenital Hypomyelination Hereditary Sensory Motor Neuropathy Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive Neuropathy, Hypomyelinating, Congenital, Type 1 Neuropathy, Motor And Sensory, Hereditary Congenital Hypomyelinating Neuropathy Hereditary Motor And Sensory Neuropathies Hereditary Sensorimotor Neuropathy Hmsn - [Hereditary Motor And Sensory Neuropathy] Hsmn - [Hereditary Sensory And Motor Neuropathy] Hereditary Motor And Sensory Neuropathy, Types I-Iv
Apocrine Sweat Gland Neoplasm	Apocrine Tumor Apocrine Neoplasm
Peripheral Nervous System Benign Neoplasm
Autonomic Nervous System Benign Neoplasm
Myoblastoma	Benign Granular Cell Tumor
Nodular Malignant Melanoma	Nodular Melanoma
Fibrous Histiocytoma	Benign Fibrous Histiocytoma Histiocytoma, Benign Fibrous Fibroxanthoma Histiocytoma Fibrous
Gallbladder Signet Ring Cell Adenocarcinoma	Signet Ring Cell Carcinoma Of The Gallbladder
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
Salivary Gland Adenoid Cystic Carcinoma	Cylindroma
Perivascular Tumor	Malignant Perivascular Cancer
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
Mucosal Melanoma
Plexiform Neurofibroma	Neurofibroma Plexiform Neurofibroma, Plexiform
Pelizaeus-Merzbacher Disease	PMD HLD1 Pelizaeus-Merzbacher Brain Sclerosis Leukodystrophy, Hypomyelinating, 1 Diffuse Familial Brain Sclerosis Pelizaeus Merzbacher Brain Sclerosis Sudanophilic Leukodystrophy, Paelizeus-Merzbacher Type Cockayne-Pelizaeus-Merzbacher Disease Hypomyelinating Leukodystrophy 1 Leukodystrophy, Sudanophilic Pelizaeus Merzbacher Disease Hypomyelinating Leukodystrophy, 1 Sudanophilic Leukodystrophy Pelizaeus-Merzbacher Disease, Connatal Form Connatal Pmd Pelizaeus-Merzbacher Disease Type Ii Severe Pmd Null Syndrome Plp1 Null Syndrome Pelizaeus-Merzbacher Disease, Null Syndrome Brain Sclerosis Diffuse Familial Sudanophilic Leukodystrophy Paelizeus-Merzbacher Type Leukodystrophy Hypomyelinating 1 Diffuse Cerebral Sclerosis Of Schilder
Melanoma In Congenital Melanocytic Nevus	Malignant Melanoma In Congenital Melanocytic Nevus Melanocytic Nevi Nevi Melanocytic
Infantile Myofibromatosis	Lipofibromatosis Myofibromatosis
Piebald Trait	Piebaldism PBT Partial Albinism Albinoidism, Oculocutaneous, Autosomal Dominant
Tonsil Cancer	Tonsillar Neoplasms Malignant Neoplasm Of Faucial Tonsil Malignant Neoplasm Of Palatine Tonsil Malignant Neoplasm Of Tonsil, Faucial Malignant Tonsillar Tumor Malignant Tumor Of Tonsil Tonsillar Carcinoma Malignant Neoplasm Tonsil
Melanoma	Malignant Melanoma Cutaneous Melanoma Naevocarcinoma Malignant Melanomas
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
Spindle Cell Sarcoma	Sarcoma Sarcoma Spindle Cell Sarcoma, Spindle Cell Sarcoma - Category
Charcot-Marie-Tooth Disease, Demyelinating, Type 1a	Charcot-Marie-Tooth Disease Type 1a CMT1A Charcot-Marie-Tooth Disease, Type Ia Hmsn1a Hereditary Motor And Sensory Neuropathy Ia Hmsn Ia Charcot-Marie-Tooth Neuropathy, Type 1a Charcot-Marie-Tooth Disease, Type 1a Charcot-Marie-Tooth Neuropathy Type 1a Hereditary Motor And Sensory Neuropathy 1a Microduplication 17p12 Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1a Autosomal Dominant Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 1a Cmt 1a Charcot Marie Tooth Disease Type 1a Hmsn 1a Charcot-Marie-Tooth Disease 1a Charcot-Marie-Tooth Disease Demyelinating Type 1a Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Unlinked To Duffy
Mixed Lacrimal Gland Cancer	Carcinoma Ex Pleomorphic Adenoma Of Lacrimal Gland Carcinoma Ex Pleomorphic Adenoma Of The Lacrimal Gland Malignant Mixed Neoplasm Of Lacrimal Gland
Spondylometaphyseal Dysplasia With Corneal Dystrophy	SMDCD Spondylometaphyseal Dysplasia-Corneal Dystrophy Syndrome Smd-Corneal Dystrophy Syndrome
Intravascular Fasciitis	Intravascular Pseudosarcomatous Fasciitis
Neurofibrosarcoma	Neurosarcoma Malignant Peripheral Nerve Sheath Tumor
Glioblastoma	Glioblastoma Multiforme Gbm Adult Glioblastoma Multiforme Grade Iv Adult Astrocytic Tumor Primary Glioblastoma Multiforme Spongioblastoma Multiforme Adult Glioblastoma Primary Glioblastoma
Middle Ear Adenocarcinoma	Adenocarcinoma Of Middle Ear Adenocarcinoma Of The Middle Ear
Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive	Split Hand-Foot Malformation 1 With Sensorineural Hearing Loss SHFM1D Deafness, Congenital, With Split Hands And Feet Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss Congenital Deafness With Split Hands And Feet Split Hand-Split Foot-Deafness Syndrome Split Hand-Split Foot-Hearing Loss Syndrome Congenital Deafness And Split Hands And Feet Split-Hand/Foot Malformation, Type 1 With Sensorineural Hearing Loss Split-Hand-Foot Malformation With Sensorineural Hearing Loss
Neurilemmomatosis	Schwannomatosis Neurofibromatosis Type 3 Nf3 Neurilemmomatosis Congenital Cutaneous Neurinomatosis Congenital Cutaneous Neurilemmomatosis Multiple Neurilemmomas Multiple Schwannomas Neurilemmomatosis, Congenital Cutaneous Schwannomatosis 1 Neurofibromatosis 3 Mixed Central And Peripheral Neurofibromatosis Nf3 - [Neurofibromatosis Type 3]
Sweat Gland Disease	Sweat Gland Diseases
Dermatofibrosarcoma Protuberans	DFSP Dermatofibrosarcoma Giant Cell Fibroblastoma Metastatic Dermatofibrosarcoma Protuberans Familial Dermatofibrosarcoma Protuberans Darier-Ferrand Tumor Darier-Hoffmann Tumor
Congenital Central Hypoventilation Syndrome	Cchs Haddad Syndrome Ondine Curse Ondine Syndrome Congenital Central Hypoventilation Congenital Central Alveolar Hypoventilation Syndrome Congenital Failure Of Autonomic Control Ondine'S Curse Primary Alveolar Hypoventilation Ondine-Hirschsprung Disease Central Congenital Hypoventilation Syndrome Congenital Ondine Curse Idiopathic Congenital Central Alveolar Hypoventilation Congenital Central Alveolar Hypoventilation-Hirschsprung Disease Syndrome Ondine-Hirschsprung Syndrome
Cervix Melanoma
Charge Syndrome	Charge Association Hall-Hittner Syndrome Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Anomalies Hhs Coloboma, Heart Anomaly, Choanal Atresia, Restriction Of Growth And Development, Genital And Ear Anomalies Coloboma-Heart Defects-Atresia Choanae-Retardation Of Growth And Development-Genitourinary Problems-Ear Abnormalities Syndrome CHARGES
Branchiooculofacial Syndrome	Branchio-Oculo-Facial Syndrome BOFS Bof Syndrome Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome Branchial Clefts With Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, And Premature Aging Branchial Clefts With Characteristic Facies Growth Retardation Imperforate Nasolacrimal Duct And Premature Aging Bofs Syndrome Lip Pseudocleft-Hemagiomatous Branchial Cyst Syndrome
Meningioma, Familial	Meningioma Familial Meningioma Meningioma, Familial, Susceptibility To Meningeal Neoplasm Meningeal Neoplasms Meningiomas Meningioma, Nf2-Related, Somatic Meningioma, Sis-Related Meningothelial Cell Tumor Neoplasm Of The Meninges Primary Meningeal Tumor Familial Multiple Meningioma MNGMA Meningioma, Benign, No Icd-O Subtype Intracranial Meningioma Meningothelial Cell Neoplasm Supratentorial Meningioma Primary Neoplasm Of Spinal Meninges Benign Intracranial Meningioma Benign Meningioma Meningeal Tumours Meningeal Sarcoma Of Unspecified Site Meningothelial Sarcoma Of Unspecified Site
Myxofibrosarcoma	Fibromyxosarcoma Fibromyxoid Sarcoma Myxoid Malignant Fibrous Histiocytoma Dermatofibrosarcoma Protuberans, Myxoid
Chondrosarcoma, Extraskeletal Myxoid	Extraskeletal Myxoid Chondrosarcoma Emc Myxoid Extraosseous Chondrosarcoma
Salivary Gland Disease	Salivary Gland Disorders Salivary Gland Diseases Non-Neoplastic Salivary Gland Disease Non-Neoplastic Salivary Gland Disorder Disorder Of Salivary Gland Lesion Of Salivary Gland Nos
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1
Hypomyelinating Leukodystrophy	Hld Leukodystrophy, Hypomyelinating
Leukodystrophy, Hypomyelinating, 2	Pmld1 Hypomyelinating Leukodystrophy 2 HLD2 Pelizaeus-Merzbacher-Like Disease 1 Pelizaeus-Merzbacher-Like Disease Due To Gjc2 Mutation Pelizaeus-Merzbacher-Like Disease Type 1 Pelizaeus-Merzbacher-Like Disease, 1 Pelizaeus Merzbacher Like Disease Pelizaeus-Merzbacher-Like Disease Pmld - Pelizaeus Merzbacher Like Disease Pelizaeus-Merzbacher-Like Disease Autosomal Recessive Type 1 Pmldar1 Leukodystrophy, Hypomyelinating, Type 2
Hypertrophic Neuropathy Of Dejerine-Sottas	Dejerine-Sottas Disease Dejerine-Sottas Syndrome Charcot-Marie-Tooth Disease Type 3 DSS Hereditary Motor And Sensory Neuropathy Type Iii Hmsn3 Dejerine-Sottas Neuropathy Hmsn Iii Charcot-Marie-Tooth Disease, Type 3 Cmt3 Dsn Hmsn 3 Hereditary Motor And Sensory Neuropathy Type 3 Hereditary Motor And Sensory Neuropathy 3 Hypertrophic Neuropathy Of Infancy Charcot-Marie-Tooth Disease Demyelinating Type 4f Charcot-Marie-Tooth Disease Type 4f Charcot-Marie-Tooth Neuropathy Type 4f Cmt4f Hereditary Motor And Sensory Neuropathy Iii Charcot-Marie-Tooth Disease, Demyelinating, Type 4f
Cerebral Degeneration	Brain Degeneration Degenerative Brain Disorder
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Mental Retardation, X-Linked 3 Methylmalonic Acidemia With Homocystinuria, Type Cblx MAHCX Intellectual Developmental Disorder, X-Linked 3 Xlid3 Mrx3 Methylmalonic Acidemia And Homocysteinemia Cblx Type Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblx Methylmalonic Aciduria With Homocystinuria, Type Cblx Methylmalonic Acidemia And Homocysteinemia, Cblx Type Methylmalonic Aciduria And Homocysteinemia, Cblx Type Methylmalonic Aciduria And Homocysteinemia , Cblx Type Mental Retardation, X-Linked, Type 3
Congenital Granular Cell Tumor
Anus Basaloid Carcinoma	Basaloid Carcinoma Of The Anus Anal Basaloid Carcinoma
Cleft Palate, Isolated	Cleft Palate Isolated Cleft Palate CPI Cp Palatoschisis Cleft Palate Isolated Uranostaphyloschisis Congenital Fissure Of Palate Cleft Of Secondary Palate
Capillary Lymphangioma	Microcystic Lymphatic Malformation Capillary Lymphatic Malformation Microcystic Infiltrating Lymphatic Malformation Microcystic Lymphangioma Superficial Lymphangioma Cutaneous Lymphangioma Circumscriptum Superficial Lymphatic Malformation Cutaneous Lymphangioma Lymphangioma Of Skin Lymphangioma Circumscriptum
Orofacial Cleft	Cleft, Orofacial
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
Adult Malignant Schwannoma	Adult Mpnst Adult Neurofibrosarcoma
Noonan Syndrome 1	Noonan Syndrome NS1 Male Turner Syndrome Female Pseudo-Turner Syndrome Turner Phenotype With Normal Karyotype Noonan Syndrome With Pigmented Villonodular Synovitis Turner'S Phenotype, Karyotype Normal Familial Turner Syndrome Noonan'S Syndrome Noonan-Ehmke Syndrome Ns Pseudo-Ullrich-Turner Syndrome Turner Syndrome In Female With X Chromosome Turner-Like Syndrome Ullrich-Noonan Syndrome Noonan-Like/Multiple Giant Cell Lesion Syndrome Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions Pterygium Colli Syndrome Noonan Syndrome, Type 1 Turner Syndrome, Male
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
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
Gastrointestinal Stromal Tumor	GIST Gastrointestinal Stromal Tumors Gastrointestinal Stromal Sarcoma Gastrointestinal Stromal Tumor, Familial Gant Gastrointestinal Stromal Tumour Stromal Tumor Of Gastrointestinal Tract Stromal Tumour Of Gastrointestinal Tract Gastrointestinal Stromal Neoplasm Paraganglioma And Gastric Stromal Sarcoma Plexosarcoma
Melanoma, Uveal	Uveal Melanoma Choroidal Melanoma Melanoma Of Uvea Iris Melanoma Malignant Melanoma Of Choroid Malignant Melanoma Of Iris
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

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

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-179505	OPN-9652	Inhibitor	98.84%	Unkown
HY-RS13583	SOX10 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-179559	OPN-9643	Inhibitor	/	Unkown
HY-RS18684	Sox10 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25170	Sox10 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	SOX10	VGNC	VGNC:46672
Rattus norvegicus	SOX10	RGD	RGD:3735
Bos taurus	SOX10	VGNC	VGNC:35141
Macaca mulatta	SOX10	VGNC	VGNC:108059
Felis catus	SOX10	VGNC	VGNC:65578
Mus musculus	SOX10	MGD	MGI:98358
Others	SOX10	NCBI