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GENE AND PROTEIN SUMMARY

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Gene name

FAM83H

Description

family with sequence similarity 83, member H

Protein class

Mapped to UniProt SWISS-PROT, Potential transmembrane proteins

Protein evidence

High

Entrez gene summary

The protein encoded by this gene plays an important role in the structural development and calcification of tooth enamel. Defects in this gene are a cause of amelogenesis imperfecta type 3 (AI3). [provided by RefSeq, Mar 2010]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

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

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Cytoplasm, Cytoskeleton (Intermediate filaments)

Additional location(s)

 

Staining summary

Localized to the cytoplasm or intermediate filaments.

Reliability (APE)

Very low

Antibodies in assay

HPA024505, HPA024604
 

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

Cytoplasmic expression at variable levels in several different cell types.

Tissue specificity

Expressed in 58 out of 81 cell types

Reliability (APE)

Medium

Antibodies in assay

HPA024505, HPA024604
 

Organ

No of cell types

Protein expression

CNS (brain) 11
Hematopoietic (blood) 8
Liver and pancreas 5
Digestive (GI-tract) 13
Respiratory (lung) 4
Cardiovascular 1
Female tissues 13
Placenta 2
Male tissues 5
Urinary tract (kidney) 3
Skin and soft tissues 13
Endocrine tissues 3

Level of annotated protein expression





High
Medium
Low
None

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 36% of the cancers

Antibodies in assay

HPA024505, HPA024604
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Breast cancer
 
Carcinoid
 
Cervical cancer
 
 
Colorectal cancer
 
 
Endometrial cancer
 
 
Glioma
 
Head and neck cancer
 
 
Liver cancer
 
 
Lung cancer
 
 
Lymphoma
 
 
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Melanoma
 
Ovarian cancer
 
Pancreatic cancer
 
Prostate cancer
 
Renal cancer
 
Skin cancer
 
Stomach cancer
 
 
Testis cancer
 
Thyroid cancer
 
Urothelial cancer
 

Level of antibody staining





Strong
Moderate
Weak
Negative

CELL LINE SUMMARY

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RNA evidence

High
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

HPA024505

HPA024604

HPA024505

HPA024604

A-431 Skin High
Strong
A-549 Lung Medium
CACO-2 Colon Medium
HEK 293 Embryonal kidney Medium
HeLa Cervix High
Hep-G2 Liver Medium
MCF-7 Pleural effusion High
PC-3 Bone marrow Medium
RT-4 Urinary bladder High
U-2 OS Bone Medium
ModerateStrong
U-251 MG Brain Low
Weak

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA024505 pAb
HPA024604 pAb