SALL4 - spalt like transcription factor 4 Gene

Homo sapiens

Also known as DRRS; IVIC; HSAL4; ZNF797

Gene ID: 57167 | Gene type: protein coding

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	Reference	Source
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

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1053 a.a.

Protein Preferred Names

Protein Names

sal-like protein 4

zinc finger protein 797

SALL4 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82154	Sall4 Antibody (YA1899)	WB, IHC-P	Human

Related Diseases

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect Inhibitor Pre-designed Sets	Purity	Rare Diseases Unkown
HY-144998	NVP-DKY709	Inhibitor	98.86%	Unkown
HY-169348	β-catenin-IN-8	Inhibitor	/	Unkown
HY-RS12420	SALL4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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