Tissue expression of COL11A2 - Summary - The Human Protein Atlas

GENERAL INFORMATION
Gene name	COL11A2
Gene description	Collagen, type XI, alpha 2
Protein class	Disease related genes Plasma proteins Predicted secreted proteins
Predicted localization	Secreted
Number of transcripts	5
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Tissue enhanced (testis)
GTEx:	Tissue enhanced (cerebellum, pituitary gland)
FANTOM5:	Tissue enriched (pituitary gland)

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: Tissue enhanced (testis)
GTEx dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (cerebellum, pituitary gland)
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Tissue enriched (pituitary gland)

GENE INFORMATION
Gene name	COL11A2 (HGNC Symbol)
Synonyms	DFNA13, DFNB53, HKE5
Description	Collagen, type XI, alpha 2 (HGNC Symbol)
Entrez gene summary	This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. It is located on chromosome 6 very close to but separate from the gene for retinoid X receptor beta. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Proteolytic processing of this type XI chain produces PARP, a proline/arginine-rich protein that is an amino terminal domain. Mutations in this gene are associated with type III Stickler syndrome, otospondylomegaepiphyseal dysplasia (OSMED syndrome), Weissenbacher-Zweymuller syndrome, autosomal dominant non-syndromic sensorineural type 13 deafness (DFNA13), and autosomal recessive non-syndromic sensorineural type 53 deafness (DFNB53). Alternative splicing results in multiple transcript variants. A related pseudogene is located nearby on chromosome 6. [provided by RefSeq, Jul 2009]
Chromosome	6
Cytoband	p21.32
Chromosome location (bp)	33162681 - 33192499
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000204248 (version 83.38)
Entrez gene	1302
UniProt	P13942 (UniProt - Evidence at protein level)
neXtProt	NX_P13942
Antibodypedia	COL11A2 antibodies

PROTEIN BROWSER

COL11A2-001	COL11A2-002	COL11A2-003	COL11A2-201	COL11A2-202

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
COL11A2-001 ENSP00000363840 ENST00000374708	Q4VXY6 [Direct mapping] Collagen alpha-2(XI) chain; Collagen type XI alpha 2 Show all	THUMBUP 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 Protein evidence (Ezkurdia et al 2014) Show all	GO:0001894 [tissue homeostasis] GO:0002062 [chondrocyte differentiation] GO:0005201 [extracellular matrix structural constituent] GO:0005581 [collagen trimer] GO:0005840 [ribosome] GO:0048705 [skeletal system morphogenesis] Show all	1650 aa 162.2 kDa	Yes	0
COL11A2-002 ENSP00000405520 ENST00000457788	A2AAS7 [Direct mapping] Collagen alpha-2(XI) chain Show all	THUMBUP 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 Protein evidence (Ezkurdia et al 2014) Show all		624 aa 65.3 kDa	Yes	0
COL11A2-003 ENSP00000378620 ENST00000395194	P13942 [Direct mapping] Collagen alpha-2(XI) chain Show all	THUMBUP 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 Plasma proteins Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0001501 [skeletal system development] GO:0005515 [protein binding] GO:0005576 [extracellular region] GO:0005592 [collagen type XI trimer] GO:0005788 [endoplasmic reticulum lumen] 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:0030674 [protein binding, bridging] GO:0046872 [metal ion binding] GO:0051216 [cartilage development] GO:0060021 [palate development] GO:0060023 [soft palate development] Show all	290 aa 32 kDa	Yes	0
COL11A2-201 ENSP00000339915 ENST00000341947	A0A0C4DFS1 [Direct mapping] Collagen alpha-2(XI) chain; Collagen, type XI, alpha 2, isoform CRA_b Show all	THUMBUP 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 Protein evidence (Ezkurdia et al 2014) Show all	GO:0005201 [extracellular matrix structural constituent] GO:0005578 [proteinaceous extracellular matrix] GO:0005581 [collagen trimer] Show all	1736 aa 171.8 kDa	Yes	0
COL11A2-202 ENSP00000355123 ENST00000361917	H0YIS1 [Direct mapping] Collagen alpha-2(XI) chain; Collagen, type XI, alpha 2, isoform CRA_c Show all	THUMBUP 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 Protein evidence (Ezkurdia et al 2014) Show all	GO:0005201 [extracellular matrix structural constituent] GO:0005578 [proteinaceous extracellular matrix] GO:0005581 [collagen trimer] Show all	1629 aa 159.9 kDa	Yes	0