SALL2 - spalt like transcription factor 2 Gene

Homo sapiens

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

Gene ID: 6297 | Gene type: protein coding

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

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12418	SALL2 Human Pre-designed siRNA Set A		/	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

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