Tissue expression of SHOX - Summary - The Human Protein Atlas

GENERAL INFORMATION
Gene name	SHOX
Gene description	Short stature homeobox
Protein class	Disease related genes Predicted intracellular proteins Transcription factors
Predicted localization	Intracellular
Number of transcripts	4
	SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Mixed
GTEx:	Not detected
FANTOM5:	Group enriched (breast, placenta)

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: Mixed
GTEx dataset Organ Expression Alphabetical RNA tissue category: Not detected
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Group enriched (breast, placenta)

GENE INFORMATION
Gene name	SHOX (HGNC Symbol)
Synonyms	GCFX, PHOG, SHOXY, SS
Description	Short stature homeobox (HGNC Symbol)
Entrez gene summary	This gene belongs to the paired homeobox family and is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. Defects in this gene are associated with idiopathic growth retardation and in the short stature phenotype of Turner syndrome patients. This gene is highly conserved across species from mammals to fish to flies. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]
Chromosome	X
Cytoband	p22.33
Chromosome location (bp)	624344 - 659411
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000185960 (version 83.38)
Entrez gene	6473
UniProt	O15266 (UniProt - Evidence at protein level)
neXtProt	NX_O15266
Antibodypedia	SHOX antibodies

PROTEIN BROWSER

SHOX-001	SHOX-003	SHOX-201	SHOX-202

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
SHOX-001 ENSP00000370987 ENST00000381575	O15266 [Direct mapping] Short stature homeobox protein Show all	Predicted intracellular proteins Transcription factors Helix-turn-helix domains Disease related genes Show all	GO:0001501 [skeletal system development] GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0006355 [regulation of transcription, DNA-templated] GO:0006366 [transcription from RNA polymerase II promoter] GO:0043565 [sequence-specific DNA binding] Show all	225 aa 25.5 kDa	No	0
SHOX-003 ENSP00000452016 ENST00000554971	O15266 [Direct mapping] Short stature homeobox protein A0A024R385 [Target identity:100%; Query identity:100%] Short stature homeobox, isoform CRA_b Show all	Predicted intracellular proteins Transcription factors Helix-turn-helix domains Disease related genes Show all	GO:0001501 [skeletal system development] GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0006355 [regulation of transcription, DNA-templated] GO:0006366 [transcription from RNA polymerase II promoter] GO:0043565 [sequence-specific DNA binding] Show all	292 aa 32.2 kDa	No	0
SHOX-201 ENSP00000335505 ENST00000334060	O15266 [Direct mapping] Short stature homeobox protein Show all	Predicted intracellular proteins Transcription factors Helix-turn-helix domains Disease related genes Show all	GO:0001501 [skeletal system development] GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0006355 [regulation of transcription, DNA-templated] GO:0006366 [transcription from RNA polymerase II promoter] GO:0043565 [sequence-specific DNA binding] Show all	225 aa 25.5 kDa	No	0
SHOX-202 ENSP00000370990 ENST00000381578	O15266 [Direct mapping] Short stature homeobox protein A0A024R385 [Target identity:100%; Query identity:100%] Short stature homeobox, isoform CRA_b Show all	Predicted intracellular proteins Transcription factors Helix-turn-helix domains Disease related genes Show all	GO:0001501 [skeletal system development] GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0006355 [regulation of transcription, DNA-templated] GO:0006366 [transcription from RNA polymerase II promoter] GO:0043565 [sequence-specific DNA binding] Show all	292 aa 32.2 kDa	No	0