SALL2 - spalt like transcription factor 2 Gene

Also Known as COLB; HSAL2; Sal-2; ZNF795; p150(Sal2)

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6297

About SALL2

Cytogenetic location: 14q11.2 Genomic coordinates (GRCh38): 14:21,521,080-21,537,121 (from NCBI)

This gene has 7 transcripts (splice variants), 118 orthologues, 14 paralogues and is associated with 8 phenotypes. Broad expression in brain (RPKM 13.4), ovary (RPKM 8.7) and 18 other tissues.

Summary

This gene encodes a protein containing multiple zinc finger domains. The encoded protein functions in optical fissure closure during development of the eye in the embryo. Mutations in this gene are associated with ocular coloboma. [provided by RefSeq, Jul 2016]

SALL2 Products (4)

mRNA	Protein	Name
NM_001291446.2	NP_001278375.1	sal-like protein 2 isoform b
NM_001291447.2	NP_001278376.1	sal-like protein 2 isoform c
NM_001364564.1	NP_001351493.1	sal-like protein 2 isoform d
NM_005407.3	NP_005398.2	sal-like protein 2 isoform a

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	21362508	GOA
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IMP IMP: Inferred from mutant phenotype	21362508	GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	21362508	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in eye development	IDA IDA: Inferred from direct assay	24412933	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	21362508	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

SALL2 Protein Structure

zf-H2C2_2

zf-C2H2_4

zf-H2C2_2

0
200
400
600
800
1007 a.a.

Protein Preferred Names	Protein Names
sal-like protein 2	zinc finger protein 795

SALL2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SALL2	Q9Y467	ZMIZ2	Homo sapiens	Q8NF64-2	Validated Y2H	25416956
Intra	SALL2	Q9Y467	NGFR	Homo sapiens	P08138	Anti Bait CoIP	19131967
Intra	SALL2	Q9Y467	NGFR	Homo sapiens	P08138	Y2H	19131967
Intra	SALL2	Q9Y467	NGFR	Homo sapiens	P08138	Anti Tag CoIP	19131967

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Coloboma, Ocular, Autosomal Recessive	COAR
Coloboma Of Eyelid	Eyelid Coloboma
Coloboma Of Eye Lens
Coloboma Of Optic Nerve	Morning Glory Disc Anomaly Coloboma Of Optic Disc Morning Glory Syndrome Ectasic Coloboma Coloboma Of Optic Papilla Congenital Coloboma Of The Optic Nerve Optic Nerve Coloboma Optic Nerve Head Pits, Bilateral Congenital Volubilis Syndrome COLON Coloboma Of Optic Disc, Unspecified Eye Congenital Coloboma Of Optic Disc Optic Disk Coloboma
Retinochoroidal Coloboma	Coloboma Of Choroid And Retina Retinal Coloboma Choroidal Coloboma Chorioretinal Coloboma
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
Coloboma Of Iris	Iris Coloboma Cleft Iris Congenital Coloboma Of Iris Notched Iris Coloboma Nos Coloboma Of Iris, Choroid And Retina Coloboma Of Eye Congenital Ocular Coloboma Ocular Coloboma
Precursor T-Cell Acute Lymphoblastic Leukemia	T-All Precursor T-Cell Acute Lymphoblastic Leukemia/Lymphoma Precursor T-Cell Acute Lymphocytic Leukemia Precursor T-Cell Acute Lymphocytic Leukemia/Lymphoma Precursor T-Cell Lymphoblastic Leukemia-Lymphoma Adult T-Cell Lymphoma/Leukemia
Nemaline Myopathy 4	Cap Myopathy 2 NEM4 Nemaline Myopathy 4, Autosomal Dominant Nemaline Myopathy, Type 4 CAPM2 Cap Disease Cap Myopathy Tpm2-Related Tpm2-Related Nemaline Myopathy Tpm2-Related Cap Myopathy Myopathy, Nemaline, Type 4 Cap Myopathy
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	FPHH Melanosis Universalis Hereditaria Muh Familial Progressive Hyperpigmentation With Or Without Hypopigmentation Hyperpigmentation, Familial Progressive, 2, Formerly Fph2, Formerly Hyperpigmentation With Or Without Hypopigmentation Familial Progressive Hyper- And Hypopigmentation Hyperpigmentation, Familial Progressive
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
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
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
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

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12418	SALL2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21749	Sall2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28267	Sall2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	SALL2	VGNC	VGNC:106911
Felis catus	SALL2	VGNC	VGNC:104716
Mus musculus	SALL2	MGD	MGI:1354373
Rattus norvegicus	SALL2	RGD	RGD:1309272
Others	SALL2	NCBI