Col6a2 (collagen type VI alpha 2 chain)

Gene: Col6a2 (collagen type VI alpha 2 chain) Ictidomys tridecemlineatus

Analyze

Symbol:

Col6a2

Name:

collagen type VI alpha 2 chain

RGD ID:

12673567

Description:

ENCODES a protein that exhibits collagen binding (inferred); INVOLVED IN neuron apoptotic process (ortholog); phosphatidylinositol 3-kinase/protein kinase B signal transduction (ortholog); response to glucose (ortholog); PARTICIPATES IN syndecan signaling pathway; ASSOCIATED WITH autistic disorder (ortholog); Axenfeld-Rieger syndrome type 3 (ortholog); Bethlem myopathy (ortholog); FOUND IN collagen-containing extracellular matrix (inferred); extracellular matrix (inferred); extracellular region (inferred)

Type:

protein-coding

RefSeq Status:

MODEL

Previously known as:

collagen alpha-2(VI) chain; collagen type VI alpha 2 chain, transcript variant X1; collagen type VI alpha 2 chain, transcript variant X2

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Latest Assembly:

SpeTri2.0 - Squirrel SpeTri2.0 Assembly

Position:

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404971	38,700,077 - 38,735,225 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936778	394,953 - 430,113 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936778	394,985 - 430,070 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

autistic disorder (ISO)

Axenfeld-Rieger syndrome type 3 (ISO)

Bethlem myopathy (ISO)

Bethlem Myopathy 1A (ISO)

Bethlem Myopathy 1B (ISO)

cataract 9 multiple types (ISO)

Collagen VI-related Myopathy (ISO)

Congenital Hip Dislocation (ISO)

COVID-19 (ISO)

developmental and epileptic encephalopathy 30 (ISO)

Experimental Liver Cirrhosis (ISO)

genetic disease (ISO)

glutamate formiminotransferase deficiency (ISO)

homocystinuria (ISO)

Leber congenital amaurosis (ISO)

Mobility Limitation (ISO)

Muscle Weakness (ISO)

muscular dystrophy (ISO)

Mycoplasma pneumoniae pneumonia (ISO)

myopathy (ISO)

Myosclerosis, Autosomal Recessive (ISO)

osteoarthritis (ISO)

primary ciliary dyskinesia (ISO)

progressive myoclonus epilepsy (ISO)

Ullrich congenital muscular dystrophy 1A (ISO)

Ullrich congenital muscular dystrophy 1B (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

neuron apoptotic process (IEA,ISO)

phosphatidylinositol 3-kinase/protein kinase B signal transduction (IEA,ISO)

response to glucose (ISO)

response to UV (IEA,ISO)

Cellular Component

collagen-containing extracellular matrix (IEA)

extracellular matrix (IEA)

extracellular region (IEA)

extracellular space (IEA)

protein-containing complex (IEA)

sarcolemma (IEA)

Molecular Function

collagen binding (IEA)

protein binding (ISO)

Molecular Pathway Annotations Click to see Annotation Detail View

syndecan signaling pathway (ISO)

References

Genomics

Comparative Map Data

Col6a2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404971	38,700,077 - 38,735,225 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936778	394,953 - 430,113 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936778	394,985 - 430,070 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

COL6A2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	21	46,098,112 - 46,132,848 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	21	46,098,112 - 46,132,848 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	21	47,518,026 - 47,552,762 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	21	46,342,461 - 46,377,191 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	21	46,342,469 - 46,374,147	NCBI
Celera	21	32,629,797 - 32,665,343 (+)	NCBI		Celera
Cytogenetic Map	21	q22.3	NCBI
HuRef	21	32,899,133 - 32,933,853 (+)	NCBI		HuRef
CHM1_1	21	47,078,809 - 47,113,491 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	21	44,476,193 - 44,510,935 (+)	NCBI		T2T-CHM13v2.0

Col6a2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	10	76,431,590 - 76,459,464 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	10	76,431,596 - 76,459,464 (-)	Ensembl		GRCm39 Ensembl
GRCm38	10	76,595,756 - 76,623,630 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	10	76,595,762 - 76,623,630 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	10	76,058,501 - 76,086,149 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	10	76,039,478 - 76,067,030 (-)	NCBI		MGSCv36	mm8
Celera	10	77,640,875 - 77,668,353 (-)	NCBI		Celera
Cytogenetic Map	10	C1	NCBI
cM Map	10	39.32	NCBI

Col6a2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	20	12,021,182 - 12,048,932 (+)	NCBI		GRCr8
mRatBN7.2	20	12,021,676 - 12,049,425 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	20	12,021,767 - 12,057,564 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	20	12,718,053 - 12,745,716 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	20	12,078,971 - 12,106,636 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	20	12,550,765 - 12,578,421 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	20	12,773,472 - 12,801,179 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	20	12,773,427 - 12,801,180 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	20	14,931,484 - 14,959,214 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	20	12,436,783 - 12,464,512 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	20	12,445,140 - 12,461,566 (+)	NCBI
Celera	20	13,520,111 - 13,547,903 (+)	NCBI		Celera
Cytogenetic Map	20	p12	NCBI

Col6a2
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955407	42,575,170 - 42,600,495 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955407	42,575,677 - 42,600,967 (+)	NCBI	ChiLan1.0	ChiLan1.0

COL6A2
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	22	42,198,729 - 42,234,261 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	21	37,070,722 - 37,105,973 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	21	32,442,859 - 32,478,076 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	21	45,696,865 - 45,731,192 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	21	45,710,491 - 45,730,895 (+)	Ensembl	panpan1.1		panPan2

COL6A2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	31	39,433,174 - 39,448,051 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
Dog10K_Boxer_Tasha	31	38,644,112 - 38,676,023 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	31	39,056,885 - 39,089,141 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	31	39,056,960 - 39,089,152 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	31	38,918,380 - 38,950,842 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	31	38,893,797 - 38,911,284 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	31	39,397,110 - 39,429,683 (+)	NCBI		UU_Cfam_GSD_1.0

COL6A2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa10.2	13	218,600,867 - 218,616,309 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

COL6A2
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	2	89,724,355 - 89,758,389 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	2	89,737,003 - 89,758,425 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666054	18,038,715 - 18,072,843 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Col6a2
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624745	31,258,825 - 31,272,524 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624745	31,246,458 - 31,272,403 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Expression

Sequence

Nucleotide Sequences


RefSeq Transcripts	XM_005340180	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005340181	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	JAESOR010000030	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENSSTOT00000024828 ⟹ ENSSTOP00000020623

Type:

CODING

Position:

Squirrel Assembly	Chr	Position (strand)	Source
SpeTri2.0 Ensembl	NW_004936778	394,953 - 430,113 (-)	Ensembl

RefSeq Acc Id:

ENSSTOT00000035040 ⟹ ENSSTOP00000026590

Type:

CODING

Position:

Squirrel Assembly	Chr	Position (strand)	Source
SpeTri2.0 Ensembl	NW_004936778	397,950 - 430,113 (-)	Ensembl

RefSeq Acc Id:

XM_005340180 ⟹ XP_005340237

Type:

CODING

Position:

Squirrel Assembly	Chr	Position (strand)	Source
HiC_Itri_2	NW_024404971	38,700,077 - 38,735,225 (+)	NCBI
SpeTri2.0	NW_004936778	394,985 - 430,070 (-)	NCBI

Sequence:

show sequence

GCCGCATCTGGGGCGGTCAGGACCCAGAGCTTCCACGGCCGGCCGTGTCCAGGCAGCCAGGACC
TCAGGGCCCACAACCGCTGCCAAGATGCTCCAGGGCCCCTTCTCCGCGCTCCTCCTGCTCGGGG
GGCTCCTGGGGGTCCTCCATGCCCAGCAGCAGGAGGTCATCTCGGGGGGCACTTCTGAGCGGAA
CAACAACTGCCCAGAGAAGGCCGACTGCCCCGTCAACGTGTACTTCGTGCTGGACACCTCGGAG
AGCGTGACCATGCAGTCCCCCACGGACAGCCTGCTCTACCACATGCAGCAGTTTGTGCCGCAGT
TCATCAGCCAGCTGCAGAACGAGTTCTACCTGGACCAGGTGGCCCTGAGTTGGCGCTACGGGGG
CCTGCACTTCTCGGACCAGGTGGAGGTGTTCAGCCCGCCAGGCAGTGACCGGGCCTCCTTCACC
AAGAGCCTGCAGAACATCCGCTCCTTCCGCCGGGGCACCTTCACTGACTGCGCGCTGGCCAACA
TGACCCAGGAGATCCGGCAGCACGTGGGCCGCGGCGTGGTCAACTTCGCCGTGGTCATCACCGA
CGGCCACGTCACCGGCAGCCCATGTGGGGGCATCAAGCTGCAGGCTGAGCGGGCCCGCGAGGAA
GGCATCCGGCTCTTCGCTGTGGCCCCCAACAGGAACCTGAATGAGCAGGGCCTCCGGGACATCG
CCAGCGCCCCCCACGAGCTCTACCGCAACAACTACGCCACCATGCGGCCCGAGTCCACCGAGAT
CGACCAGGACACCATCAACCGCATTATCAAGGTCATGAAACACGAGGCCTATGGAGAGTGCTAC
AAGGTGAGCTGTCTGGAGATCCCTGGACCACCAGGCCCCAAGGGCTACCGTGGACAGAAGGGTG
CCAAGGGCAACATGGGTGAGCCAGGAGAGCCCGGACAGAAGGGGCGACAGGGAGATCCAGGCAT
CGAGGGCCCCATCGGATTCCCAGGACCCAAGGGTGTTCCAGGCTTCAAAGGAGAGAAGGGTGAA
TTTGGAGCTGACGGTCGAAAGGGGGCTCCAGGCTTGGCCGGCAAGAATGGGACTGATGGCCAGA
AGGGCAAGCTGGGCCGCATCGGGCCTCCTGGCTGCAAGGGAGACCCTGGAACCCGGGGCCCTGA
CGGGTACCCGGGGGAGGCTGGAAGCCCAGGCGAGCGGGGAGACCAAGGCGCCAAGGGGGACTCT
GGCCGCCCAGGACGCAGAGGGCCTCCAGGAGACCCTGGAGACAAGGGAAGCAAGGGTTACCAAG
GCAACAACGGAGCCCCGGGCAGTCCTGGCGTGAAAGGAGCCAAGGGGGGGCCTGGGCCGCGCGG
ACCCAAAGGCGAGCCCGGGCGCAGGGGAGACCCCGGAACCAAGGGCGGCCCCGGCAGTGACGGT
CCCAAGGGAGAGAAGGGGGACCCTGGCCCAGAAGGGCCCCGGGGCCTGGCCGGAGAGGTCGGCA
ACAAAGGAGCCCAGGGAGACCGAGGATTGCCTGGACCCAGAGGCCCCCAGGGGGCCCTTGGGGA
GCCCGGAAAGCAGGGATCTCGGGGAGACCCTGGTGATGCTGGGCCCCGCGGAGACTCGGGACAG
CCAGGCCCCAAGGGAGACCCTGGCAGGCCTGGATTCAGCTACCCGGGACCCCGGGGTACCCCCG
GAGAGAAAGGCGAGCCCGGCCCCCGTGGCCCAGAGGGAGGCCGAGGGGACTTCGGCATGAAAGG
AGGACCTGGGAGGAAAGGAGAGAAGGGGGAGCCCGCAGATCCTGGTCCCCCTGGTGAGCCAGGC
CCCCGGGGGCCGAGAGGAGTCCCAGGACCTGAGGGTGAGCCCGGCCCCCCCGGAGACCCCGGCC
TCACGGAGTGTGACGTCATGACCTACGTGAGGGAGACCTGCGGCTGCTGTGACTGCGAGAAGCG
CTGTGGGCCCCTGGACGTGGTCTTCGTCATCGACAGCTCAGAGAGCATCGGCTACACCAACTTC
ACCCTGGAGAAGAACTTTGTCATTAACGTGGTCAACAGGCTGGGGGCCATGGCCAAGGACCCCA
AGTCAGAGACCGGGACCCGCGTGGGCGTGGTGCAGTACAGCCACGAGGGCACCTTCGAGGCCAT
CCAGTTGGACGACGAGCGCATCAACTCTCTGTCCAGCTTCAAGGAGGCCGTCAAGAACCTGGAG
TGGATTGCGGGCGGCACCTGGACACCGTCAGCCCTCAAGTTCGCCTACAACAAGCTCATCAAGG
ACAGCCGCCGCCACAAGACCCGCGTGTTCGCTGTGGTCATCACGGATGGGCGCCATGACCCGCG
GGACGACGACCTGAACCTGCGGGCCCTGTGCACGGGTGACGTCACCGTGACGGCCATCGGCATT
GGGGACATGTTCCACGAGCGCCATGAGAGCGAGAACCTGTACTCCATTGCCTGTGACAAGCCGC
AGCAGGTGCGCAACATGACCCTCTTCTCAGACCTGGTGGCCGAGCGCTTCATCGACGACATGGC
GGACGTCCTCTGCCCTGACCCGCAGATCGTGTGCCCGGAGCTTCCCTGCCAAACAGAGCTGTAC
GTGGCACAGTGTACGCAGCGGCCAGTGGACATCGTCTTCCTGCTGGACGGCTCTGAGCGACTGG
GAGAGCAGAACTTCCACAAGGCACGCGGCTTCGTGGAAGAGGTGTCCCGGCGCCTGACGCTGGC
CCGCAGGGAGGACGACCCGCTCAATGCCCGTGTGGCCTTGGTGCAGTACGGTGGCCAGCAGGAG
CAGCAGGTGGCCTTCCCGCTGACCTCCAACCTGACGGTCATCCACGAGGCTCTGCAGGACCTGC
GCTACCTCAACTCCTTCTCCCACGTGGGCACAGGCATCGTGCACGCCATCAACACTGTGGTGCG
GGGTGCGCAGGGCGGGGCGCGGCGCCACGCGGAGCTGTCCTTTGTGTTCCTCACCGACGGCGTC
ACCGGCAACGCCAGCCTGGAGGAGTCCGTGCACTCCATGCGCAAGCAGAACGTGGTGCCCACCG
TGGTGGCCGTGGGCAGCGATGTGGACATGGACGTGCTGCACAAGATCAGCCTGGGCGACAGGTC
GGCCATCTTCCGGGAGAAGGACTTTGACAGCCTGGTGCAGCCCGGCTTCTTCGACAGGTTCATC
CGCTGGATCTGTTAGCACTGCCAGCGGCAGCCCACCTGTCCTCCCCGGCCATGGTGCTACTCAG
ACAGCAGTCCCCAGGGGAGCTGGACTGCTTGCTAGAGGCCTCTCCCACCGGCAAGAGCCCCTTC
TCCCAAGGAGGTCGGGATGGGAGGACCTCTGGCCCCAGGCCCTTCCCACCTGCAGCTCCCAGGC
CCCTCCTGTCTATCTGTCCTGCGCACACCTTGCCCTCAAGGCCTCCGCCAGCTCAGAGGCACCC
TGCAGTCCACTGACTGCCTCTCAGCCTCCCTGCCTCCCCTCCCCTTCCAAGAGCTTTCTTCCAG
CCCTGCCAGGGCCTGGTCACCACCTGCCCACACCCCTGAGCTCATGAGCCCACCCGAGAGTCCC
TGTCCATGTCCAATAAAGGCTTTGGACCCCCTGC

hide sequence

RefSeq Acc Id:

XM_005340181 ⟹ XP_005340238

Type:

CODING

Position:

Squirrel Assembly	Chr	Position (strand)	Source
HiC_Itri_2	NW_024404971	38,700,077 - 38,732,655 (+)	NCBI
SpeTri2.0	NW_004936778	396,002 - 430,070 (-)	NCBI

Sequence:

show sequence

GCCGCATCTGGGGCGGTCAGGACCCAGAGCTTCCACGGCCGGCCGTGTCCAGGCAGCCAGGACC
TCAGGGCCCACAACCGCTGCCAAGATGCTCCAGGGCCCCTTCTCCGCGCTCCTCCTGCTCGGGG
GGCTCCTGGGGGTCCTCCATGCCCAGCAGCAGGAGGTCATCTCGGGGGGCACTTCTGAGCGGAA
CAACAACTGCCCAGAGAAGGCCGACTGCCCCGTCAACGTGTACTTCGTGCTGGACACCTCGGAG
AGCGTGACCATGCAGTCCCCCACGGACAGCCTGCTCTACCACATGCAGCAGTTTGTGCCGCAGT
TCATCAGCCAGCTGCAGAACGAGTTCTACCTGGACCAGGTGGCCCTGAGTTGGCGCTACGGGGG
CCTGCACTTCTCGGACCAGGTGGAGGTGTTCAGCCCGCCAGGCAGTGACCGGGCCTCCTTCACC
AAGAGCCTGCAGAACATCCGCTCCTTCCGCCGGGGCACCTTCACTGACTGCGCGCTGGCCAACA
TGACCCAGGAGATCCGGCAGCACGTGGGCCGCGGCGTGGTCAACTTCGCCGTGGTCATCACCGA
CGGCCACGTCACCGGCAGCCCATGTGGGGGCATCAAGCTGCAGGCTGAGCGGGCCCGCGAGGAA
GGCATCCGGCTCTTCGCTGTGGCCCCCAACAGGAACCTGAATGAGCAGGGCCTCCGGGACATCG
CCAGCGCCCCCCACGAGCTCTACCGCAACAACTACGCCACCATGCGGCCCGAGTCCACCGAGAT
CGACCAGGACACCATCAACCGCATTATCAAGGTCATGAAACACGAGGCCTATGGAGAGTGCTAC
AAGGTGAGCTGTCTGGAGATCCCTGGACCACCAGGCCCCAAGGGCTACCGTGGACAGAAGGGTG
CCAAGGGCAACATGGGTGAGCCAGGAGAGCCCGGACAGAAGGGGCGACAGGGAGATCCAGGCAT
CGAGGGCCCCATCGGATTCCCAGGACCCAAGGGTGTTCCAGGCTTCAAAGGAGAGAAGGGTGAA
TTTGGAGCTGACGGTCGAAAGGGGGCTCCAGGCTTGGCCGGCAAGAATGGGACTGATGGCCAGA
AGGGCAAGCTGGGCCGCATCGGGCCTCCTGGCTGCAAGGGAGACCCTGGAACCCGGGGCCCTGA
CGGGTACCCGGGGGAGGCTGGAAGCCCAGGCGAGCGGGGAGACCAAGGCGCCAAGGGGGACTCT
GGCCGCCCAGGACGCAGAGGGCCTCCAGGAGACCCTGGAGACAAGGGAAGCAAGGGTTACCAAG
GCAACAACGGAGCCCCGGGCAGTCCTGGCGTGAAAGGAGCCAAGGGGGGGCCTGGGCCGCGCGG
ACCCAAAGGCGAGCCCGGGCGCAGGGGAGACCCCGGAACCAAGGGCGGCCCCGGCAGTGACGGT
CCCAAGGGAGAGAAGGGGGACCCTGGCCCAGAAGGGCCCCGGGGCCTGGCCGGAGAGGTCGGCA
ACAAAGGAGCCCAGGGAGACCGAGGATTGCCTGGACCCAGAGGCCCCCAGGGGGCCCTTGGGGA
GCCCGGAAAGCAGGGATCTCGGGGAGACCCTGGTGATGCTGGGCCCCGCGGAGACTCGGGACAG
CCAGGCCCCAAGGGAGACCCTGGCAGGCCTGGATTCAGCTACCCGGGACCCCGGGGTACCCCCG
GAGAGAAAGGCGAGCCCGGCCCCCGTGGCCCAGAGGGAGGCCGAGGGGACTTCGGCATGAAAGG
AGGACCTGGGAGGAAAGGAGAGAAGGGGGAGCCCGCAGATCCTGGTCCCCCTGGTGAGCCAGGC
CCCCGGGGGCCGAGAGGAGTCCCAGGACCTGAGGGTGAGCCCGGCCCCCCCGGAGACCCCGGCC
TCACGGAGTGTGACGTCATGACCTACGTGAGGGAGACCTGCGGCTGCTGTGACTGCGAGAAGCG
CTGTGGGCCCCTGGACGTGGTCTTCGTCATCGACAGCTCAGAGAGCATCGGCTACACCAACTTC
ACCCTGGAGAAGAACTTTGTCATTAACGTGGTCAACAGGCTGGGGGCCATGGCCAAGGACCCCA
AGTCAGAGACCGGGACCCGCGTGGGCGTGGTGCAGTACAGCCACGAGGGCACCTTCGAGGCCAT
CCAGTTGGACGACGAGCGCATCAACTCTCTGTCCAGCTTCAAGGAGGCCGTCAAGAACCTGGAG
TGGATTGCGGGCGGCACCTGGACACCGTCAGCCCTCAAGTTCGCCTACAACAAGCTCATCAAGG
ACAGCCGCCGCCACAAGACCCGCGTGTTCGCTGTGGTCATCACGGATGGGCGCCATGACCCGCG
GGACGACGACCTGAACCTGCGGGCCCTGTGCACGGGTGACGTCACCGTGACGGCCATCGGCATT
GGGGACATGTTCCACGAGCGCCATGAGAGCGAGAACCTGTACTCCATTGCCTGTGACAAGCCGC
AGCAGGTGCGCAACATGACCCTCTTCTCAGACCTGGTGGCCGAGCGCTTCATCGACGACATGGC
GGACGTCCTCTGCCCTGACCCGCAGATCGTGTGCCCGGAGCTTCCCTGCCAAACAGATGGAGCG
CGGCCTGGCAACCAGCCCCCGGTCACCTTCCTCCGCACGGAAGAGGGCCCAGACCCCACCTTCC
CCAGGACCATCCCCCTGATCCAGCAGTTGCTAAACACCACCAAGGTCACACAGGACCCCGCCTC
CTACTCCCAGCTGGTGGCCGTGATGGTCTACACCGCAGAGCGGGCCAAGTTCGCCACAGGGGTC
GAGCGGCAAGACTGGATGCAGCTGTTCATTGACACCTTTAAGCTGGTGCACAGGGACATCACTG
GGGACCCTGAGACGGCACTGGCGCTCTGCTGAGGCACAGGGCCACGTGTGCAGAGGGCTGGAGC
TGCCCCCACTCCGCTCCTTAGCTTCAAGGCCTGCCTTTCACAGACCGAGGGCTTCAGAGGCACC
CTGGCCCCATGGTCTGGAGGCGAGAATGGAGGCATCTCCAGGCCACATTCCCTCCAGAGGCCGG
CTCCACCCAGGGCCTTCCTGCTCTTCAGCTGGGGTTCCGCCCACCTTGGCTCCTGGACCCCTCA
CGCCAGCCTCACCTGGTCTTCCCCTGGCCCTCCTCTGCCTGTGTCCTCTCCTTGCCTTACAAGG
ACAATGGTCGTTGAATTAAGGCCTGCCCTAAATCCAGGTGGTTCCCATCTCCAGCTCCTTCACC
CAGCGCTGTCCTTCTTTGCCACATAAAGTGACCATTACCTCTTGGGGGTTGGAACGGGTCCTCA
TTTGGGGGACCATTATTCAGCCCACCACACCACCATTCCACTGAGCTGCCCCAGGCTGTAGGTG
GGAGGCGTGCGGTCAGTGCCCAGGGATGTCTTCTTCGCTGGGTCCCAGTGTCTGGTCTACCCTG
GTCTCAGACTTGGACAGTGGCCCTGAGTTCAGTGACGCTGGGTATTCTTGGCCCACAGGTGACC
AGGACTGGGTGGCAGTGGCTCTTTGGGGAGCCGGGCAGTCCTGCAGCCAGGATACCTTTGAGCC
AGCCATGAGGGCACACCCCGTGTTTGACCTCCAGGCATCCCAGCTAACCTCTGGGTGCCCGAGA
CACTCCTGGTGCCCGTCCACCCTTGGCAAGGCATTGCTGCCCTCGGGCCCTTGGCGGACCTGTA
GGGTCCTCTGCTGATGTGACGGCCTTCCCTAGGGAGCACGGTGGAGCATCGCTGCCCCAGGCAG
GCCTGGGCAGGGGCTCTGGGCAAGCCCCAGGGGCCTCCTTCTGCCCTGGGCATCCCTCCTGCCG
TGGGGTGGTAGGCAGGGAAAGGGGCGCCCACAGGACTGGGAGGTGCAGAGGCTGCCAGAGTCTC
AAGACTGCTGACCACTGTGCGCCTCTGCCTGCCCCGGAGAGATGCCACCTGCTGCTTGTGTGTC
TCTGTGTTTCTGGTGACGACTGTGAGGAAGTCTGTCAGTTTTGAAGGCTTGTCACTCCTGGCCA
CTCCCCGGGTCCTCTGATGGAGGGCCAGGGGTGGTCTGCACTGGAATAACGGCGTCGTTACTGA
GCTCATTGAAAAGACCATGCCCGAGAGTTGTGGCGCGGGGGTGGGGGGCCGTCCGCCTCAGCAA
CGAGACAGAAAGCTGAGCCGTGGGAAGAGGAGCTGAGGCAGGTGGTACTGAGCTGGCCTCCGGG
GGCGGAGCCGCGCCCACCTGTGGGTGTGTGAGGTCCTGGTGGACCCCCTGATGGCATCAAGGGG
GGACCAGCCAATCCATGGCCCCTTCCAAGGCAAGGAGCTTGGCACAGTCCCTGGTGCACAGACA
GAGGGGTCCCAGCGCATGGGCTCTGACCCTGCAGGTAGTCACCCTGCTGCCCTTGTGTCCAGAG
CTGGTGGGTGGCCACACGGGGGGCGTCTTGGCAGTAGTGTGTCTCTGAGAAGCCACACCTGAGT
TCGCTGCAGCAAGCCCCAGGGACACGGGCTCCTGACCTCCTGGGAGACACGTGGCCTAGCCAGT
TCCAGATCGCTCAGGGCGGGTGGGCAGCTCTGAGGTGGTCAGGGCCAGGGGTCCCACGGGATGG
TGTCCATTTTCTGACCCAGAAGGGCCTGGAGGTGCTGGCCCGGGAAGTGCACGTGGGAGGCCCC
TCTGGCTCCAGGTTTGGGAGTGTTCCTGGCAGGAGGACCTGCTTCTCCCTGACAGAGCCTGGGC
CCAGGACCCGCACCTGGCTGATCTGCTGGGACCCCCGTAGTGGCCAGGGTGAGGCCCCCAGGCC
CACAGTTCAGGGCACTCTGGACAGAAAGCACAGAGGGAATGTCACGGCCGGCCCCATCTC

hide sequence

Protein Sequences


Protein RefSeqs	XP_005340237	(Get FASTA)	NCBI Sequence Viewer
	XP_005340238	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSSTOP00000020623.2
	ENSSTOP00000026590.1
GenBank Protein	KAG3284168	(Get FASTA)	NCBI Sequence Viewer
	KAG3284169	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	XP_005340237 ⟸ XM_005340180
- Peptide Label:	isoform X1
- UniProtKB:	I3N8C7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MLQGPFSALLLLGGLLGVLHAQQQEVISGGTSERNNNCPEKADCPVNVYFVLDTSESVTMQSPT DSLLYHMQQFVPQFISQLQNEFYLDQVALSWRYGGLHFSDQVEVFSPPGSDRASFTKSLQNIRS FRRGTFTDCALANMTQEIRQHVGRGVVNFAVVITDGHVTGSPCGGIKLQAERAREEGIRLFAVA PNRNLNEQGLRDIASAPHELYRNNYATMRPESTEIDQDTINRIIKVMKHEAYGECYKVSCLEIP GPPGPKGYRGQKGAKGNMGEPGEPGQKGRQGDPGIEGPIGFPGPKGVPGFKGEKGEFGADGRKG APGLAGKNGTDGQKGKLGRIGPPGCKGDPGTRGPDGYPGEAGSPGERGDQGAKGDSGRPGRRGP PGDPGDKGSKGYQGNNGAPGSPGVKGAKGGPGPRGPKGEPGRRGDPGTKGGPGSDGPKGEKGDP GPEGPRGLAGEVGNKGAQGDRGLPGPRGPQGALGEPGKQGSRGDPGDAGPRGDSGQPGPKGDPG RPGFSYPGPRGTPGEKGEPGPRGPEGGRGDFGMKGGPGRKGEKGEPADPGPPGEPGPRGPRGVP GPEGEPGPPGDPGLTECDVMTYVRETCGCCDCEKRCGPLDVVFVIDSSESIGYTNFTLEKNFVI NVVNRLGAMAKDPKSETGTRVGVVQYSHEGTFEAIQLDDERINSLSSFKEAVKNLEWIAGGTWT PSALKFAYNKLIKDSRRHKTRVFAVVITDGRHDPRDDDLNLRALCTGDVTVTAIGIGDMFHERH ESENLYSIACDKPQQVRNMTLFSDLVAERFIDDMADVLCPDPQIVCPELPCQTELYVAQCTQRP VDIVFLLDGSERLGEQNFHKARGFVEEVSRRLTLARREDDPLNARVALVQYGGQQEQQVAFPLT SNLTVIHEALQDLRYLNSFSHVGTGIVHAINTVVRGAQGGARRHAELSFVFLTDGVTGNASLEE SVHSMRKQNVVPTVVAVGSDVDMDVLHKISLGDRSAIFREKDFDSLVQPGFFDRFIRWIC hide sequence

RefSeq Acc Id:	XP_005340238 ⟸ XM_005340181
- Peptide Label:	isoform X2
- UniProtKB:	A0A287CZ27 (UniProtKB/TrEMBL)
- Sequence:	show sequence MLQGPFSALLLLGGLLGVLHAQQQEVISGGTSERNNNCPEKADCPVNVYFVLDTSESVTMQSPT DSLLYHMQQFVPQFISQLQNEFYLDQVALSWRYGGLHFSDQVEVFSPPGSDRASFTKSLQNIRS FRRGTFTDCALANMTQEIRQHVGRGVVNFAVVITDGHVTGSPCGGIKLQAERAREEGIRLFAVA PNRNLNEQGLRDIASAPHELYRNNYATMRPESTEIDQDTINRIIKVMKHEAYGECYKVSCLEIP GPPGPKGYRGQKGAKGNMGEPGEPGQKGRQGDPGIEGPIGFPGPKGVPGFKGEKGEFGADGRKG APGLAGKNGTDGQKGKLGRIGPPGCKGDPGTRGPDGYPGEAGSPGERGDQGAKGDSGRPGRRGP PGDPGDKGSKGYQGNNGAPGSPGVKGAKGGPGPRGPKGEPGRRGDPGTKGGPGSDGPKGEKGDP GPEGPRGLAGEVGNKGAQGDRGLPGPRGPQGALGEPGKQGSRGDPGDAGPRGDSGQPGPKGDPG RPGFSYPGPRGTPGEKGEPGPRGPEGGRGDFGMKGGPGRKGEKGEPADPGPPGEPGPRGPRGVP GPEGEPGPPGDPGLTECDVMTYVRETCGCCDCEKRCGPLDVVFVIDSSESIGYTNFTLEKNFVI NVVNRLGAMAKDPKSETGTRVGVVQYSHEGTFEAIQLDDERINSLSSFKEAVKNLEWIAGGTWT PSALKFAYNKLIKDSRRHKTRVFAVVITDGRHDPRDDDLNLRALCTGDVTVTAIGIGDMFHERH ESENLYSIACDKPQQVRNMTLFSDLVAERFIDDMADVLCPDPQIVCPELPCQTDGARPGNQPPV TFLRTEEGPDPTFPRTIPLIQQLLNTTKVTQDPASYSQLVAVMVYTAERAKFATGVERQDWMQL FIDTFKLVHRDITGDPETALALC hide sequence

RefSeq Acc Id:

ENSSTOP00000020623 ⟸ ENSSTOT00000024828

RefSeq Acc Id:

ENSSTOP00000026590 ⟸ ENSSTOT00000035040

Protein Domains

VWFA

Additional Information

External Database Links

Database	Acc Id	Source(s)
Ensembl Genes	ENSSTOG00000024366	Ensembl, UniProtKB/TrEMBL
Ensembl Transcript	ENSSTOT00000024828.2	UniProtKB/TrEMBL
	ENSSTOT00000035040.1	UniProtKB/TrEMBL
Gene3D-CATH	3.40.50.410	UniProtKB/TrEMBL
	6-Phosphogluconate Dehydrogenase, domain 3	UniProtKB/TrEMBL
InterPro	Collagen	UniProtKB/TrEMBL
	VWF_A	UniProtKB/TrEMBL
	vWFA_dom_sf	UniProtKB/TrEMBL
NCBI Gene	Col6a2	ENTREZGENE
PANTHER	COLLAGEN ALPHA	UniProtKB/TrEMBL
	COLLAGEN ALPHA-2(VI) CHAIN	UniProtKB/TrEMBL
	PH DOMAIN-CONTAINING PROTEIN	UniProtKB/TrEMBL
Pfam	Collagen	UniProtKB/TrEMBL
	VWA	UniProtKB/TrEMBL
PRINTS	VWFADOMAIN	UniProtKB/TrEMBL
PROSITE	VWFA	UniProtKB/TrEMBL
SMART	VWA	UniProtKB/TrEMBL
Superfamily-SCOP	SSF53300	UniProtKB/TrEMBL
UniProt	A0A287CZ27	ENTREZGENE, UniProtKB/TrEMBL
	I3N8C7	ENTREZGENE, UniProtKB/TrEMBL

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Annotations - PID (archival)

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Annotations - PID (archival)