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Term
Gene name

Class

Subclass

Chromosome

External id

In atlas

Reliability

Reliability

Reliability

Validation

Method

Validation

Method

Validation

Method

Validation

Location

Searches

Tissue

Cell type

Expression

Tissue

Specificity

Cell line

Specificity

Cancer

Specificity

Tissue

Detectable

Cell line

Detectable

Cancer

Detectable

Cancer

Prognosis

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Score

Score

Score

Antibodies

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SOX9
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    TISSUE

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    CELL

  • PATHOLOGY

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation


Dictionary


Tissue proteome

GENERAL INFORMATION

Gene name

SOX9

Gene description

SRY (sex determining region Y)-box 9

Protein class

Cancer-related genes
Disease related genes
Predicted intracellular proteins
Transcription factors

Predicted localization

Intracellular

Number of transcripts

1
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:Mixed
GTEx:Mixed
FANTOM5:Mixed

Protein evidence

Evidence at protein level

Protein expression

General nuclear expression.

DATA RELIABILITY

Data reliability
description

Antibody staining mainly consistent with RNA expression data.

Reliability score

Supported based on 3 antibodies.
HPA001758 , CAB022456 , CAB068240
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RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM) Protein expression (score)
Brain
Cerebral cortex
Hippocampus
N/A
Caudate
N/A
Cerebellum
N/A
Endocrine tissues
Thyroid gland
Parathyroid gland
Adrenal gland
Bone marrow & immune system
Appendix
Bone marrow
Lymph node
Tonsil
Spleen
Muscle tissues
Heart muscle
Skeletal muscle
Smooth muscle
Lung
Nasopharynx
N/A
Bronchus
N/A
Lung
Liver & gallbladder
Liver
Gallbladder
Pancreas
Pancreas
Gastrointestinal tract
Oral mucosa
N/A
Salivary gland
Esophagus
Stomach
Duodenum
Small intestine
Colon
Rectum
Kidney & urinary bladder
Kidney
Urinary bladder
Male tissues
Testis
Epididymis
Prostate
Seminal vesicle
Female tissues
Breast
Vagina
N/A
Cervix, uterine
Endometrium
Fallopian tube
Ovary
Placenta
Adipose & soft tissue
Adipose tissue
Soft tissue
N/A
Skin
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW

Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW

HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed

GENE INFORMATION

Gene name

SOX9 (HGNC Symbol)

Synonyms

CMD1, CMPD1, SRA1

Description

SRY (sex determining region Y)-box 9 (HGNC Symbol)

Entrez gene summary

The protein encoded by this gene recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins. It acts during chondrocyte differentiation and, with steroidogenic factor 1, regulates transcription of the anti-Muellerian hormone (AMH) gene. Deficiencies lead to the skeletal malformation syndrome campomelic dysplasia, frequently with sex reversal. [provided by RefSeq, Jul 2008]

Chromosome

17

Cytoband

q24.3

Chromosome location (bp)

72121020 - 72126420

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000125398 (version 83.38)

Entrez gene

6662

UniProt

P48436 (UniProt - Evidence at protein level)

neXtProt

NX_P48436

Antibodypedia

SOX9 antibodies

PROTEIN BROWSER

SOX9-001

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SOX9-001
ENSP00000245479
ENST00000245479
P48436 [Direct mapping]
Transcription factor SOX-9
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Predicted intracellular proteins
Transcription factors
   Other all-alpha-helical DNA-binding domains
Cancer-related genes
   Candidate cancer biomarkers
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000976 [transcription regulatory region sequence-specific DNA binding]
GO:0000981 [RNA polymerase II transcription factor activity, sequence-specific DNA binding]
GO:0001046 [core promoter sequence-specific DNA binding]
GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding]
GO:0001158 [enhancer sequence-specific DNA binding]
GO:0001228 [transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding]
GO:0001501 [skeletal system development]
GO:0001502 [cartilage condensation]
GO:0001503 [ossification]
GO:0001658 [branching involved in ureteric bud morphogenesis]
GO:0001708 [cell fate specification]
GO:0001837 [epithelial to mesenchymal transition]
GO:0001894 [tissue homeostasis]
GO:0001934 [positive regulation of protein phosphorylation]
GO:0001942 [hair follicle development]
GO:0002053 [positive regulation of mesenchymal cell proliferation]
GO:0002062 [chondrocyte differentiation]
GO:0002063 [chondrocyte development]
GO:0002683 [negative regulation of immune system process]
GO:0003170 [heart valve development]
GO:0003179 [heart valve morphogenesis]
GO:0003188 [heart valve formation]
GO:0003203 [endocardial cushion morphogenesis]
GO:0003413 [chondrocyte differentiation involved in endochondral bone morphogenesis]
GO:0003415 [chondrocyte hypertrophy]
GO:0003677 [DNA binding]
GO:0003682 [chromatin binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0003705 [transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding]
GO:0004672 [protein kinase activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005667 [transcription factor complex]
GO:0006334 [nucleosome assembly]
GO:0006338 [chromatin remodeling]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0006461 [protein complex assembly]
GO:0007010 [cytoskeleton organization]
GO:0007165 [signal transduction]
GO:0007173 [epidermal growth factor receptor signaling pathway]
GO:0007219 [Notch signaling pathway]
GO:0007283 [spermatogenesis]
GO:0007417 [central nervous system development]
GO:0007507 [heart development]
GO:0008013 [beta-catenin binding]
GO:0008284 [positive regulation of cell proliferation]
GO:0008285 [negative regulation of cell proliferation]
GO:0008584 [male gonad development]
GO:0010564 [regulation of cell cycle process]
GO:0010628 [positive regulation of gene expression]
GO:0010629 [negative regulation of gene expression]
GO:0010634 [positive regulation of epithelial cell migration]
GO:0014032 [neural crest cell development]
GO:0014068 [positive regulation of phosphatidylinositol 3-kinase signaling]
GO:0016337 [single organismal cell-cell adhesion]
GO:0019100 [male germ-line sex determination]
GO:0019933 [cAMP-mediated signaling]
GO:0030154 [cell differentiation]
GO:0030155 [regulation of cell adhesion]
GO:0030198 [extracellular matrix organization]
GO:0030238 [male sex determination]
GO:0030279 [negative regulation of ossification]
GO:0030502 [negative regulation of bone mineralization]
GO:0030850 [prostate gland development]
GO:0030857 [negative regulation of epithelial cell differentiation]
GO:0030858 [positive regulation of epithelial cell differentiation]
GO:0030879 [mammary gland development]
GO:0030903 [notochord development]
GO:0030916 [otic vesicle formation]
GO:0031018 [endocrine pancreas development]
GO:0032331 [negative regulation of chondrocyte differentiation]
GO:0032332 [positive regulation of chondrocyte differentiation]
GO:0032808 [lacrimal gland development]
GO:0034236 [protein kinase A catalytic subunit binding]
GO:0034504 [protein localization to nucleus]
GO:0035019 [somatic stem cell population maintenance]
GO:0035326 [enhancer binding]
GO:0035622 [intrahepatic bile duct development]
GO:0042127 [regulation of cell proliferation]
GO:0042981 [regulation of apoptotic process]
GO:0043066 [negative regulation of apoptotic process]
GO:0043234 [protein complex]
GO:0043425 [bHLH transcription factor binding]
GO:0043491 [protein kinase B signaling]
GO:0043565 [sequence-specific DNA binding]
GO:0044212 [transcription regulatory region DNA binding]
GO:0044798 [nuclear transcription factor complex]
GO:0045165 [cell fate commitment]
GO:0045595 [regulation of cell differentiation]
GO:0045662 [negative regulation of myoblast differentiation]
GO:0045732 [positive regulation of protein catabolic process]
GO:0045892 [negative regulation of transcription, DNA-templated]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0046533 [negative regulation of photoreceptor cell differentiation]
GO:0046982 [protein heterodimerization activity]
GO:0048709 [oligodendrocyte differentiation]
GO:0048873 [homeostasis of number of cells within a tissue]
GO:0050679 [positive regulation of epithelial cell proliferation]
GO:0050680 [negative regulation of epithelial cell proliferation]
GO:0051216 [cartilage development]
GO:0060008 [Sertoli cell differentiation]
GO:0060009 [Sertoli cell development]
GO:0060018 [astrocyte fate commitment]
GO:0060041 [retina development in camera-type eye]
GO:0060174 [limb bud formation]
GO:0060221 [retinal rod cell differentiation]
GO:0060350 [endochondral bone morphogenesis]
GO:0060441 [epithelial tube branching involved in lung morphogenesis]
GO:0060487 [lung epithelial cell differentiation]
GO:0060512 [prostate gland morphogenesis]
GO:0060517 [epithelial cell proliferation involved in prostatic bud elongation]
GO:0060532 [bronchus cartilage development]
GO:0060534 [trachea cartilage development]
GO:0060729 [intestinal epithelial structure maintenance]
GO:0060784 [regulation of cell proliferation involved in tissue homeostasis]
GO:0061036 [positive regulation of cartilage development]
GO:0061046 [regulation of branching involved in lung morphogenesis]
GO:0061138 [morphogenesis of a branching epithelium]
GO:0061145 [lung smooth muscle development]
GO:0070168 [negative regulation of biomineral tissue development]
GO:0070371 [ERK1 and ERK2 cascade]
GO:0070384 [Harderian gland development]
GO:0071260 [cellular response to mechanical stimulus]
GO:0071300 [cellular response to retinoic acid]
GO:0071347 [cellular response to interleukin-1]
GO:0071364 [cellular response to epidermal growth factor stimulus]
GO:0071504 [cellular response to heparin]
GO:0071560 [cellular response to transforming growth factor beta stimulus]
GO:0071599 [otic vesicle development]
GO:0072034 [renal vesicle induction]
GO:0072170 [metanephric tubule development]
GO:0072189 [ureter development]
GO:0072190 [ureter urothelium development]
GO:0072193 [ureter smooth muscle cell differentiation]
GO:0072197 [ureter morphogenesis]
GO:0072289 [metanephric nephron tubule formation]
GO:0090090 [negative regulation of canonical Wnt signaling pathway]
GO:0090103 [cochlea morphogenesis]
GO:0090184 [positive regulation of kidney development]
GO:0090190 [positive regulation of branching involved in ureteric bud morphogenesis]
GO:0097157 [pre-mRNA intronic binding]
GO:1901203 [positive regulation of extracellular matrix assembly]
GO:2000020 [positive regulation of male gonad development]
GO:2000138 [positive regulation of cell proliferation involved in heart morphogenesis]
GO:2000741 [positive regulation of mesenchymal stem cell differentiation]
GO:2000794 [regulation of epithelial cell proliferation involved in lung morphogenesis]
GO:2001054 [negative regulation of mesenchymal cell apoptotic process]
Show all
509 aa
56.1 kDa
No 0

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