Fields »

GENE AND PROTEIN SUMMARY

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Gene name

AC112502.1

Description

short stature homeobox protein 2 isoform c

Protein class

Protein evidence

None

Entrez gene summary

This gene is a member of the homeobox family of genes that encode proteins containing a 60-amino acid residue motif that represents a DNA binding domain. Homeobox genes have been characterized extensively as transcriptional regulators involved in pattern formation in both invertebrate and vertebrate species. Several human genetic disorders are caused by aberrations in human homeobox genes. This locus represents a pseudoautosomal homeobox gene that is thought to be responsible for idiopathic short stature, and it is implicated in the short stature phenotype of Turner syndrome patients. This gene is considered to be a candidate gene for Cornelia de Lange syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]

External links

Ensembl, Entrez gene, Antibodypedia

No of splice variants

1 in total
0 with predicted TM region
0 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Pending subcellular analysis

NORMAL TISSUE & ORGAN SUMMARY

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Pending normal tissue analysis

CANCER TISSUE SUMMARY

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Pending cancer tissue analysis

CELL LINE SUMMARY

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RNA evidence

Not detected
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

A-431 Skin Not detected

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-

A-549 Lung Not detected

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-

CACO-2 Colon Not detected

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-

HEK 293 Embryonal kidney Not detected

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-

HeLa Cervix Not detected

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-

Hep-G2 Liver Not detected

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-

MCF-7 Pleural effusion Not detected

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-

PC-3 Bone marrow Not detected

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-

RT-4 Urinary bladder Not detected

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-

U-2 OS Bone Not detected

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-

U-251 MG Brain Not detected

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-

ANTIBODY SUMMARY

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Pending antibodies