SALL4 - spalt like transcription factor 4 Gene

Also Known as DRRS; IVIC; HSAL4; ZNF797

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 57167

About SALL4

Cytogenetic location: 20q13.2 Genomic coordinates (GRCh38): 20:51,782,331-51,802,521 (from NCBI)

This gene has 5 transcripts (splice variants), 208 orthologues, 14 paralogues and is associated with 77 phenotypes. Biased expression in testis (RPKM 2.4), thyroid (RPKM 1.3) and 4 other tissues.

Summary

This gene encodes a zinc finger transcription factor thought to play a role in the development of abducens motor neurons. Defects in this gene are a cause of Duane-radial ray syndrome (DRRS). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

SALL4 Products (2)

mRNA	Protein	Name
NM_001318031.2	NP_001304960.1	sal-like protein 4 isoform 2
NM_020436.5	NP_065169.1	sal-like protein 4 isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	参考文献	由来
enables protein binding	IPI IPI: Inferred from physical interaction	21914818	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

SALL4 Protein Structure

zf-H2C2_2

zf-C2H2

zf-H2C2_2

0
200
400
600
800
1000
1053 a.a.

Protein Preferred Names	Protein Names
sal-like protein 4	zinc finger protein 797

SALL4 抗体

製品番号	製品名	アプリケーション	反応性
HY-P82154	SALL4 Antibody (YA1899)	WB, IHC-P	Human
HY-P82154A	SALL4 Antibody (YA1899)(PBS only)	WB, IHC-P	Human
HY-P84867	SALL4 Antibody (YA4564)	FC, ELISA	Human
HY-P84867A	SALL4 Antibody (YA4564)(PBS only)	FC, ELISA	Human
HY-P84868	SALL4 Antibody (YA4565)	WB, FC, ELISA	Human, Mouse
HY-P84868A	SALL4 Antibody (YA4565)(PBS only)	WB, FC, ELISA	Human, Mouse
HY-P84869	SALL4 Antibody (YA4566)	ICC/IF, FC, ELISA	Human
HY-P84869A	SALL4 Antibody (YA4566)(PBS only)	ICC/IF, FC, ELISA	Human
HY-P86306	SALL4 Antibody (YA5998)	WB, ICC/IF, ELISA	Human

関連疾患

Diseases	Alias
Duane-Radial Ray Syndrome	Okihiro Syndrome DRRS Dr Syndrome Duane Anomaly With Radial Ray Abnormalities And Deafness Acrorenoocular Syndrome Acrorenocular Syndrome Duane Anomaly With Radial Abnormalities And Deafness Acro-Renal-Ocular Syndrome
Ivic Syndrome	Oculootoradial Syndrome Radial Ray Defects, Hearing Impairment, External Ophthalmoplegia, And Thrombocytopenia IVIC Instituto Venezolano De Investigaciones Cientificas Syndrome Oculo-Oto-Radial Syndrome Oors
Okihiro Syndrome Due To A Point Mutation	Duane-Radial Ray Syndrome Due To A Point Mutation
Duane Retraction Syndrome	Stilling-Turk-Duane Syndrome Duane'S Syndrome Duane Syndrome Isolated Duane Retraction Syndrome Co-Contractive Retraction Syndrome Duane Anomaly, Isolated Ocular Retraction Syndrome Drs Durs
Okihiro Syndrome Due To 20q13 Microdeletion	Duane-Radial Ray Syndrome Due To Monosomy 20q13 Okihiro Syndrome Due To Del(20)(Q13) Okihiro Syndrome Due To Monosomy 20q13
Holt-Oram Syndrome	HOS Atriodigital Dysplasia Heart-Hand Syndrome Atrio-Digital Syndrome Cardiac-Limb Syndrome Heart-Hand Syndrome, Type 1 Ventriculo-Radial Syndrome Hos1 Heart Hand Syndrome Atrio Digital Syndrome Hos 1 Atriodigital Dysplasia Type 1 Heart-Hand Syndrome Type 1 Holt Oram Syndrome
Mixed Germ Cell Cancer	Mixed Germ Cell Tumor Mixed Germ Cell Neoplasm Mixed Germ Cell Tumour Mixed Teratoma And Seminoma
Ovarian Primitive Germ Cell Tumor
Malignant Teratoma	Immature Teratoma Malignant Extragonadal Teratoma Primary Malignant Extragonadal Teratoma Teratoma, Malignant, Nos Teratoma, Malignant Immature Extragonadal Teratoma
Smarca4-Deficient Sarcoma Of Thorax	Smarca4-Dts Smarca4-Deficient Thoracic Sarcoma
Hepatoid Adenocarcinoma
Ovarian Endodermal Sinus Tumor	Endodermal Sinus Tumor Of Ovary Ovarian Yolk Sac Tumor Endodermal Sinus Tumour Of Ovary Ovarian Endodermal Sinus Tumour Ovarian Yolk Sac Tumour
Wolf-Hirschhorn Syndrome	Pitt-Rogers-Danks Syndrome WHS Chromosome 4p16.3 Deletion Syndrome Wittwer Syndrome 4p- Syndrome Pitt Syndrome 4p Deletion Syndrome Distal Deletion 4p Distal Monosomy 4p Telomeric Deletion 4p Prds 4p Syndrome Chromosome 4p Syndrome Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation Wolf Syndrome Chromosome 4p Deletion Syndrome Chromosome 4p Monosomy Del Syndrome Monosomy 4p Partial Monosomy 4p Chromosome 4 Short Arm Deletion
Combined Thymoma
Mixed Germ Cell-Sex Cord Neoplasm	Mixed Germ Cell-Sex Cord-Stromal Tumor Mixed Germ Cell-Sex Cord Tumor
Townes-Brocks Syndrome	Townes Syndrome Renal-Ear-Anal-Radial Syndrome Anus, Imperforate, With Hand, Foot And Ear Anomalies Imperforate Anus-Hand, Foot And Ear Anomalies Syndrome Rear Syndrome Sensorineural Deafness With Imperforate Anus And Hypoplastic Thumbs Tbs Deafness, Sensorineural, With Imperforate Anus And Hypoplastic Thumbs Imperforate Anus With Hand, Foot And Ear Anomalies Anal-Ear-Renal-Radial Malformation Syndrome Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome Imperforate Anus-Hand And Foot Anomalies Syndrome Sensorineural Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome Sensorineural Hearing Loss With Imperforate Anus And Hypoplastic Thumbs
Ovarian Germ Cell Cancer	Ovarian Germ Cell Tumor Malignant Germ Cell Tumor Of Ovary Germ Cell Neoplasm Of Ovary Germ Cell Tumor Of Ovary Mogct Malignant Ovarian Germ Cell Tumor Malignant Ovarian Germ Cell Neoplasm
Benign Teratoma	Dermoid Cyst Cystic Dermoid Choristoma Dermoid Choristoma Mature Cystic Teratoma Dermoid Tumour Teratoma, Benign Dermoid Cyst Of Ovary
Extragonadal Seminoma	Primary Extragonadal Seminoma
Mature Teratoma	Dermoid Cyst Benign Teratoma
Synostosis
Choriocarcinoma Of The Testis	Testicular Choriocarcinoma
Testicular Yolk Sac Tumor	Testicular Yolk Sac Neoplasm Endodermal-Sinus Tumor Orchidoblastoma Yolk Sac Tumor
Cholangiolocellular Carcinoma
Diencephalic Astrocytoma	Astrocytoma Of Diencephalon
Malignant Pineal Area Germ Cell Neoplasm	Pineal Germ Cell Tumor Malignant Pineal Parenchymal Germ Cell Tumor Pineal Region Germ Cell Tumor Pineal Cell Tumor Pineal Cell Tumour Pineal Region Germinoma Malignant Pineal Region Germ Cell Tumor Pineal Germinoma
Endodermal Sinus Tumor	Yolk Sac Tumor Endodermal Sinus Tumour Hepatoid Yolk Sac Tumour Infantile Embryonal Carcinoma Yolk Sac Neoplasm Yolk Sac Tumour
Spermatocytoma	Spermatocytic Seminoma
Dysgerminoma Of Ovary	Ovarian Dysgerminoma Malignant Dysgerminomatous Germ Cell Tumour Of Ovary Dysgerminoma, Unspecified Site, Female
Blastoma	Embryoma
Thymus Large Cell Carcinoma	Large Cell Carcinoma Of The Thymus Thymic Large Cell Neuroendocrine Carcinoma
Central Nervous System Germinoma	Germinoma Of The Central Nervous System Intracranial Germinoma Germinoma Of Cns
Hepatoblastoma
Germ Cell Cancer	Malignant Germ Cell Tumor Neoplasms, Germ Cell And Embryonal Germ Cell Neoplasm Germ Cell Tumour Malignant Tumor Of The Germ Cell Neoplasms Germ Cell Malignant Germ Cell Neoplasm
Epithelioid Trophoblastic Tumor	Trophoblastic Tumor, Epithelioid
Placental Site Trophoblastic Tumor	Trophoblastic Tumor Placental Site Trophoblastic Tumor, Placental Site Placental Site Trophoblastic Tumour Placental-Site Gestational Trophoblastic Neoplasm Placenta Neoplasm Psst Deciduoma Placental Cancer Primary Malignant Neoplasm Of Placenta
Germinoma
Germ Cell And Embryonal Cancer	Germ Cell And Embryonal Neoplasm
Congenital Fibrosis Of The Extraocular Muscles	Congenital Fibrosis Of Extraocular Muscles Cfeom Feom Congenital External Ophthalmoplegia Congenital Fibrosis Syndrome General Fibrosis Syndrome
Testicular Disease	Testicular Dysfunction Testicular Diseases Disorder Of Testis Testis Disorder Testicular Disorders
Myelodysplastic Syndrome	Myelodysplastic Syndromes Myelodysplasia MDS Myelodysplastic Syndrome Included Myelodysplastic Syndrome, Susceptibility To, Included Myelodysplastic Syndrome, Somatic Myelodysplastic Syndrome, Susceptibility To
Partial Third-Nerve Palsy	Partial Third Nerve Palsy Third Nerve Palsy With Pupil Sparing Third Or Oculomotor Nerve Palsy, Partial Oculomotor Nerve Diseases Oculomotor Nerve Paralysis
Esotropia	Convergence In Manifest Squint Crossed Eyes Internal Strabismus Convergent Concomitant Strabismus Convergent Squint Convergent Strabismus Cross-Eye
Testicular Cancer	Testis Cancer Testicular Carcinoma Testicular Neoplasms Malignant Neoplasm Of Testis Childhood Neoplasm Of The Testis Neoplasm Of Testis Pediatric Testicular Neoplasm Testicular Tumor Testis Neoplasm Testicular Tumors Testicular Neoplasm Testicular Malignant Germ Cell Tumor Childhood Testicular Neoplasm Carcinoma Of The Testis Cancer Of Testis Malignant Neoplasm Of Testis, Nos Malignant Neoplasm Of Testis, Unspecified Malignant Tumour Of Testis Testicle Cancer Primary Malignant Neoplasm Of Testis
Thrombocytopenia	Low Platelet Count Low Platelets Decreased Platelets Platelet Dysfunction Nos
Strabismus	Strabismus, Susceptibility To Strabismus, Susceptibility To, 1 Strabismus 1
Cryptorchidism, Unilateral Or Bilateral	Cryptorchidism Undescended Testicle Undescended Testis Cryptorchism Undescended Testicles CRYPTO Impaired Testicular Descent Cryptosporidiosis Retained Testis Unilateral Cryptorchidism Unilateral Undescended Testis Nondescent Unilateral Testicle Unilateral Cryptorchism Ectopic Testis, Unilateral Bilateral Cryptorchidism Bilateral Cryptorchism Bilateral Nondescent Testicle Bilateral Undescended Testes Bilateral Ectopic Testes

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 (8)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-144998	NVP-DKY709	Inhibitor	99.66%	Unkown
HY-RS21750	Sall4 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-169348	β-catenin-IN-8	Inhibitor	/	Unkown
HY-175875	HRZ-01-082-5	Degrader	/	Unkown
HY-RS12420	SALL4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-W1128213	IKZF2-degrader 2	Degrader	/	Unkown
HY-W599279	ABS-752	Degrader	/	Unkown
HY-RS28268	Sall4 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Mus musculus	SALL4	MGD	MGI:2139360
Macaca mulatta	SALL4	VGNC	VGNC:77019
Canis familiaris	SALL4	VGNC	VGNC:103704
Bos taurus	SALL4	VGNC	VGNC:34265
Felis catus	SALL4	VGNC	VGNC:64859
Rattus norvegicus	SALL4	RGD	RGD:1597672
Others	SALL4	NCBI