1. Gene
  2. SALL4 - spalt like transcription factor 4 Gene

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

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (396 - 421)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (580 - 605)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (626 - 648)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (884 - 909)

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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

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
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