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Gene name

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Chromosome

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In atlas

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Reliability

Reliability

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Method

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Cancer

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Detectable

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Antibodies

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COL2A1
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    TISSUE

  • CELL

  • PATHOLOGY

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation


Dictionary


Tissue proteome

GENERAL INFORMATION

Gene name

COL2A1

Gene description

Collagen, type II, alpha 1

Protein class

Cancer-related genes
Disease related genes
Predicted secreted proteins

Predicted localization

Secreted

Number of transcripts

2
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:Group enriched (epididymis, stomach)
GTEx:Group enriched (pituitary gland, stomach, testis)
FANTOM5:Tissue enhanced (pituitary gland, retina)

Protein evidence

Evidence at protein level

Protein expression

Positivity in extracellular matrix.

DATA RELIABILITY

Data reliability
description

Antibody staining in cells/structures not annotated, view images.

Reliability score

Supported based on 1 antibody.
CAB002214
SHOW MORE

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

Placenta

PROTEIN EXPRESSION OVERVIEW

Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW

HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (epididymis, stomach)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (pituitary gland, stomach, testis)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (pituitary gland, retina)

GENE INFORMATION

Gene name

COL2A1 (HGNC Symbol)

Synonyms

AOM, SEDC, STL1

Description

Collagen, type II, alpha 1 (HGNC Symbol)

Entrez gene summary

This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq, Jul 2008]

Chromosome

12

Cytoband

q13.11

Chromosome location (bp)

47972965 - 48004486

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000139219 (version 83.38)

Entrez gene

1280

UniProt

P02458 (UniProt - Evidence at protein level)

neXtProt

NX_P02458

Antibodypedia

COL2A1 antibodies

PROTEIN BROWSER

COL2A1-001
COL2A1-008

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)

COL2A1-001
ENSP00000369889
ENST00000380518
P02458 [Direct mapping]
Collagen alpha-1(II) chain Collagen alpha-1(II) chain Chondrocalcin
Show all
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Frameshift Mutations
   COSMIC Translocations
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001501 [skeletal system development]
GO:0001502 [cartilage condensation]
GO:0001503 [ossification]
GO:0001894 [tissue homeostasis]
GO:0001958 [endochondral ossification]
GO:0002062 [chondrocyte differentiation]
GO:0003007 [heart morphogenesis]
GO:0005201 [extracellular matrix structural constituent]
GO:0005515 [protein binding]
GO:0005576 [extracellular region]
GO:0005578 [proteinaceous extracellular matrix]
GO:0005581 [collagen trimer]
GO:0005585 [collagen type II trimer]
GO:0005604 [basement membrane]
GO:0005615 [extracellular space]
GO:0005737 [cytoplasm]
GO:0005788 [endoplasmic reticulum lumen]
GO:0006029 [proteoglycan metabolic process]
GO:0007411 [axon guidance]
GO:0007417 [central nervous system development]
GO:0007601 [visual perception]
GO:0007605 [sensory perception of sound]
GO:0010468 [regulation of gene expression]
GO:0022617 [extracellular matrix disassembly]
GO:0030020 [extracellular matrix structural constituent conferring tensile strength]
GO:0030198 [extracellular matrix organization]
GO:0030199 [collagen fibril organization]
GO:0030574 [collagen catabolic process]
GO:0030903 [notochord development]
GO:0031012 [extracellular matrix]
GO:0035108 [limb morphogenesis]
GO:0042472 [inner ear morphogenesis]
GO:0042802 [identical protein binding]
GO:0046872 [metal ion binding]
GO:0048407 [platelet-derived growth factor binding]
GO:0048705 [skeletal system morphogenesis]
GO:0048839 [inner ear development]
GO:0050776 [regulation of immune response]
GO:0051216 [cartilage development]
GO:0060021 [palate development]
GO:0060174 [limb bud formation]
GO:0060272 [embryonic skeletal joint morphogenesis]
GO:0060348 [bone development]
GO:0060351 [cartilage development involved in endochondral bone morphogenesis]
GO:0071599 [otic vesicle development]
GO:0071773 [cellular response to BMP stimulus]
GO:2001240 [negative regulation of extrinsic apoptotic signaling pathway in absence of ligand]
Show all
1487 aa
141.8 kDa
Yes 0
COL2A1-008
ENSP00000338213
ENST00000337299
P02458 [Direct mapping]
Collagen alpha-1(II) chain Collagen alpha-1(II) chain Chondrocalcin
Show all
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Frameshift Mutations
   COSMIC Translocations
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001501 [skeletal system development]
GO:0005201 [extracellular matrix structural constituent]
GO:0005576 [extracellular region]
GO:0005581 [collagen trimer]
GO:0005585 [collagen type II trimer]
GO:0005788 [endoplasmic reticulum lumen]
GO:0007411 [axon guidance]
GO:0007601 [visual perception]
GO:0007605 [sensory perception of sound]
GO:0022617 [extracellular matrix disassembly]
GO:0030020 [extracellular matrix structural constituent conferring tensile strength]
GO:0030198 [extracellular matrix organization]
GO:0030199 [collagen fibril organization]
GO:0030574 [collagen catabolic process]
GO:0031012 [extracellular matrix]
GO:0042802 [identical protein binding]
GO:0046872 [metal ion binding]
GO:0048407 [platelet-derived growth factor binding]
GO:0050776 [regulation of immune response]
GO:0051216 [cartilage development]
GO:0060272 [embryonic skeletal joint morphogenesis]
Show all
1418 aa
134.4 kDa
Yes 0

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