Tissue expression of AMELX - Summary - The Human Protein Atlas

GENERAL INFORMATION
Gene name	AMELX
Gene description	Amelogenin, X-linked
Protein class	Disease related genes Predicted secreted proteins
Predicted localization	Secreted
Number of transcripts	3
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Not detected
GTEx:	Not detected
FANTOM5:	Tissue enriched (seminal vesicle)

Protein evidence

Evidence at protein level

DATA RELIABILITY
Reliability score	Pending normal tissue annotation.

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

N/A

Cerebral cortex

N/A

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

N/A

Thyroid gland

N/A

Parathyroid gland

N/A

Adrenal gland

N/A

Bone marrow & immune system

N/A

Appendix

N/A

Bone marrow

N/A

Lymph node

N/A

Tonsil

N/A

Spleen

N/A

Muscle tissues

N/A

Heart muscle

N/A

Skeletal muscle

N/A

Smooth muscle

N/A

Lung

N/A

Nasopharynx

N/A

Bronchus

N/A

Lung

N/A

Liver & gallbladder

N/A

Liver

N/A

Gallbladder

N/A

Pancreas

N/A

Pancreas

N/A

Gastrointestinal tract

N/A

Oral mucosa

N/A

Salivary gland

N/A

Esophagus

N/A

Stomach

N/A

Duodenum

N/A

Small intestine

N/A

Colon

N/A

Rectum

N/A

Kidney & urinary bladder

N/A

Kidney

N/A

Urinary bladder

N/A

Male tissues

N/A

Testis

N/A

Epididymis

N/A

Prostate

N/A

Seminal vesicle

N/A

Female tissues

N/A

Breast

N/A

Vagina

N/A

Cervix, uterine

N/A

Endometrium

N/A

Fallopian tube

N/A

Ovary

N/A

Placenta

N/A

Adipose & soft tissue

N/A

Adipose tissue

N/A

Soft tissue

N/A

Skin

N/A

Skin

N/A

PROTEIN EXPRESSION OVERVIEW
Pending normal tissue annotation.

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Not detected
GTEx dataset Organ Expression Alphabetical RNA tissue category: Not detected
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Tissue enriched (seminal vesicle)

GENE INFORMATION
Gene name	AMELX (HGNC Symbol)
Synonyms	AIH1, AMG
Description	Amelogenin, X-linked (HGNC Symbol)
Entrez gene summary	This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in this gene cause X-linked amelogenesis imperfecta. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Chromosome	X
Cytoband	p22.2
Chromosome location (bp)	11293413 - 11300761
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000125363 (version 83.38)
Entrez gene	265
UniProt	Q99217 (UniProt - Evidence at protein level)
neXtProt	NX_Q99217
Antibodypedia	AMELX antibodies

PROTEIN BROWSER

AMELX-001	AMELX-002	AMELX-201

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
AMELX-001 ENSP00000370090 ENST00000380714	Q99217 [Direct mapping] Amelogenin, X isoform Show all	Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Disease related genes Show all	GO:0001649 [osteoblast differentiation] GO:0001837 [epithelial to mesenchymal transition] GO:0002062 [chondrocyte differentiation] GO:0005515 [protein binding] GO:0005578 [proteinaceous extracellular matrix] GO:0007155 [cell adhesion] GO:0007165 [signal transduction] GO:0007275 [multicellular organismal development] GO:0008083 [growth factor activity] GO:0008283 [cell proliferation] GO:0009986 [cell surface] GO:0030345 [structural constituent of tooth enamel] GO:0031214 [biomineral tissue development] GO:0032967 [positive regulation of collagen biosynthetic process] GO:0034505 [tooth mineralization] GO:0042475 [odontogenesis of dentin-containing tooth] GO:0042802 [identical protein binding] GO:0046848 [hydroxyapatite binding] GO:0050801 [ion homeostasis] GO:0070166 [enamel mineralization] GO:0070172 [positive regulation of tooth mineralization] Show all	191 aa 21.6 kDa	Yes	0
AMELX-002 ENSP00000370088 ENST00000380712	Q99217 [Direct mapping] Amelogenin, X isoform Show all	Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Disease related genes Show all	GO:0001649 [osteoblast differentiation] GO:0001837 [epithelial to mesenchymal transition] GO:0002062 [chondrocyte differentiation] GO:0005515 [protein binding] GO:0005578 [proteinaceous extracellular matrix] GO:0007155 [cell adhesion] GO:0007165 [signal transduction] GO:0007275 [multicellular organismal development] GO:0008083 [growth factor activity] GO:0008283 [cell proliferation] GO:0009986 [cell surface] GO:0030345 [structural constituent of tooth enamel] GO:0031214 [biomineral tissue development] GO:0032967 [positive regulation of collagen biosynthetic process] GO:0034505 [tooth mineralization] GO:0042475 [odontogenesis of dentin-containing tooth] GO:0042802 [identical protein binding] GO:0046848 [hydroxyapatite binding] GO:0050801 [ion homeostasis] GO:0070166 [enamel mineralization] GO:0070172 [positive regulation of tooth mineralization] Show all	205 aa 23.1 kDa	Yes	0
AMELX-201 ENSP00000335312 ENST00000348912	Q99217 [Direct mapping] Amelogenin, X isoform Show all	MEMSAT3 predicted membrane proteins TMHMM predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Disease related genes Show all	GO:0001649 [osteoblast differentiation] GO:0001837 [epithelial to mesenchymal transition] GO:0002062 [chondrocyte differentiation] GO:0005515 [protein binding] GO:0005578 [proteinaceous extracellular matrix] GO:0007155 [cell adhesion] GO:0007165 [signal transduction] GO:0007275 [multicellular organismal development] GO:0008083 [growth factor activity] GO:0008283 [cell proliferation] GO:0009986 [cell surface] GO:0030345 [structural constituent of tooth enamel] GO:0031214 [biomineral tissue development] GO:0032967 [positive regulation of collagen biosynthetic process] GO:0034505 [tooth mineralization] GO:0042475 [odontogenesis of dentin-containing tooth] GO:0042802 [identical protein binding] GO:0046848 [hydroxyapatite binding] GO:0050801 [ion homeostasis] GO:0070166 [enamel mineralization] GO:0070172 [positive regulation of tooth mineralization] Show all	175 aa 19.8 kDa	Yes	0