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Gene: CLEC6A (C-type lectin domain containing 6A) Homo sapiens

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Symbol:

CLEC6A

Name:

C-type lectin domain containing 6A

RGD ID:

1351045

HGNC Page

HGNC:14556

Description:

Enables D-mannose binding activity; calcium ion binding activity; and pattern recognition receptor activity. Predicted to be involved in several processes, including positive regulation of canonical NF-kappaB signal transduction; positive regulation of immune response; and response to fungus. Is active in plasma membrane.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 10; C-type lectin domain family 6 member A; C-type lectin domain family 6, member A; C-type lectin superfamily member 10; CLEC4N; CLECSF10; DC-associated C-type lectin 2; DC-associated C-type lectin-2; dectin 2; dectin-2; dendritic cell-associated C-type lectin 2; hDECTIN-2

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	12	8,455,962 - 8,478,330 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	12	8,455,962 - 8,478,330 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	8,608,558 - 8,630,926 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	8,499,858 - 8,522,193 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	12	8,499,857 - 8,522,193	NCBI
Celera	12	10,144,899 - 10,166,924 (+)	NCBI		Celera
Cytogenetic Map	12	p13.31	NCBI
HuRef	12	8,391,249 - 8,413,275 (+)	NCBI		HuRef
CHM1_1	12	8,577,549 - 8,599,900 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	12	8,439,728 - 8,461,787 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

developmental and epileptic encephalopathy 21 (IAGP)

Hyperphosphatemic Familial Tumoral Calcinosis 1 (IAGP)

immunodeficiency with hyper-IgM type 2 (IAGP)

Klippel-Feil syndrome 3 (IAGP)

lymphoproliferative syndrome 2 (IAGP)

peroxisome biogenesis disorder 2B (IAGP)

Temtamy syndrome (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(-)-alpha-phellandrene (EXP)

(1->4)-beta-D-glucan (ISO)

1,1-dichloroethene (ISO)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2,4-dibromophenyl 2,4,5-tribromophenyl ether (ISO)

4-hydroxynon-2-enal (ISO)

4-hydroxyphenyl retinamide (ISO)

aldehydo-D-glucose (ISO)

all-trans-retinoic acid (EXP)

alpha-phellandrene (EXP)

benzo[a]pyrene (ISO)

benzo[b]fluoranthene (ISO)

Benzo[k]fluoranthene (ISO)

bisphenol A (ISO)

bisphenol F (EXP)

carbon nanotube (ISO)

choline (ISO)

D-glucose (ISO)

diclofenac (ISO)

doxorubicin (ISO)

epoxiconazole (ISO)

ethanol (ISO)

folic acid (ISO)

fructose (ISO)

fulvestrant (EXP)

glucose (ISO)

glyphosate (ISO)

isoprenaline (ISO)

L-methionine (ISO)

lead diacetate (ISO)

lipopolysaccharide (ISO)

melatonin (ISO)

Monobutylphthalate (ISO)

ozone (ISO)

paracetamol (ISO)

paraquat (EXP)

perfluorohexanesulfonic acid (ISO)

perfluorooctane-1-sulfonic acid (ISO)

rotenone (ISO)

silicon dioxide (ISO)

succimer (ISO)

tetrachloromethane (ISO)

titanium dioxide (ISO)

tremolite asbestos (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

adaptive immune response (IEA)

antifungal innate immune response (IBA,IEA,ISS)

defense response to fungus (IEA,ISS)

detection of yeast (IEA,ISS)

innate immune response (IEA,ISS)

positive regulation of canonical NF-kappaB signal transduction (IEA,ISS)

positive regulation of cytokine production (IEA,ISS)

positive regulation of intracellular signal transduction (IEA,ISS)

positive regulation of peptidyl-tyrosine phosphorylation (ISO)

positive regulation of T-helper 17 type immune response (IEA,ISS)

response to yeast (IEA,ISS)

stimulatory C-type lectin receptor signaling pathway (IEA,ISS)

Cellular Component

external side of plasma membrane (IBA)

plasma membrane (IDA,IEA,TAS)

Molecular Function

calcium ion binding (IDA)

carbohydrate binding (IBA,IDA,IEA,ISS)

D-mannose binding (IDA)

metal ion binding (IEA)

pattern recognition receptor activity (IBA,IDA,IEA,ISS)

phospholipase binding (ISS)

protein binding (IPI)

References

References - curated

#	Reference Title	Reference Citation
1.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:12477932	PMID:15175046	PMID:15368084	PMID:15481152	PMID:15810886	PMID:16423983	PMID:19665392	PMID:21283787	PMID:21677049	PMID:21873635	PMID:23573288	PMID:23606632
PMID:23911656	PMID:23928558	PMID:23932568	PMID:24129160	PMID:24362892	PMID:25659141	PMID:26129889	PMID:27358401	PMID:27872290	PMID:28652405	PMID:29616019	PMID:29668708
PMID:30443026	PMID:31371767	PMID:31868000	PMID:36078084	PMID:37813965

Genomics

Comparative Map Data

CLEC6A
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	12	8,455,962 - 8,478,330 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	12	8,455,962 - 8,478,330 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	8,608,558 - 8,630,926 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	8,499,858 - 8,522,193 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	12	8,499,857 - 8,522,193	NCBI
Celera	12	10,144,899 - 10,166,924 (+)	NCBI		Celera
Cytogenetic Map	12	p13.31	NCBI
HuRef	12	8,391,249 - 8,413,275 (+)	NCBI		HuRef
CHM1_1	12	8,577,549 - 8,599,900 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	12	8,439,728 - 8,461,787 (+)	NCBI		T2T-CHM13v2.0

Clec4n
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	6	123,206,802 - 123,223,983 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	6	123,206,802 - 123,223,980 (+)	Ensembl		GRCm39 Ensembl
GRCm38	6	123,229,843 - 123,247,024 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	6	123,229,843 - 123,247,021 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	6	123,179,861 - 123,197,042 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	6	123,195,493 - 123,212,640 (+)	NCBI		MGSCv36	mm8
Celera	6	125,027,700 - 125,044,646 (+)	NCBI		Celera
Cytogenetic Map	6	F2	NCBI
cM Map	6	58.3	NCBI

Clec6a-ps1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	4	158,225,100 - 158,244,722 (+)	NCBI		GRCr8
mRatBN7.2	4	156,539,408 - 156,559,032 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	4	156,539,408 - 156,558,605 (+)	NCBI		mRatBN7.2 Ensembl
mRatBN7.2 Ensembl	4	156,539,408 - 156,558,605 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	4	162,808,935 - 162,813,516 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	4	158,591,814 - 158,596,395 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	4	157,237,232 - 157,241,810 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	4	156,186,251 - 156,219,375 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	4	156,186,281 - 156,219,346 (+)	NCBI	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	4	223,202,953 - 223,236,018 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	4	159,822,460 - 159,841,743 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	4	160,067,395 - 160,086,679 (+)	NCBI
Celera	4	145,336,271 - 145,352,372 (+)	NCBI		Celera
Cytogenetic Map	4	q42	NCBI

CLEC6A
(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	10	13,979,106 - 14,002,512 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	12	13,975,866 - 13,999,272 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	12	8,537,766 - 8,560,736 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	12	8,752,778 - 8,775,738 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	12	8,752,778 - 8,775,738 (+)	Ensembl	panpan1.1		panPan2

CLEC6A
(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	11	8,227,590 - 8,250,857 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	11	8,228,381 - 8,253,159 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666089	325,571 - 349,303 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Variants

Variants in CLEC6A
8 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1	copy number loss	See cases [RCV000052776]	Chr12:121055..28415184 [GRCh38] Chr12:282465..28568117 [GRCh37] Chr12:100482..28459384 [NCBI36] Chr12:12p13.33-11.22	pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	copy number gain	See cases [RCV000053660]	Chr12:77187..34380176 [GRCh38] Chr12:282465..34533111 [GRCh37] Chr12:56614..34424378 [NCBI36] Chr12:12p13.33-11.1	pathogenic
GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	copy number gain	See cases [RCV000053662]	Chr12:80412..25470329 [GRCh38] Chr12:282465..25623263 [GRCh37] Chr12:59839..25514530 [NCBI36] Chr12:12p13.33-12.1	pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	copy number gain	See cases [RCV000053666]	Chr12:212976..33926913 [GRCh38] Chr12:322142..34079848 [GRCh37] Chr12:192403..33971115 [NCBI36] Chr12:12p13.33-11.1	pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	copy number gain	See cases [RCV000136611]	Chr12:121255..34603274 [GRCh38] Chr12:282465..34756209 [GRCh37] Chr12:100682..34647476 [NCBI36] Chr12:12p13.33-11.1	pathogenic
GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	copy number gain	See cases [RCV000137694]	Chr12:2871741..14987348 [GRCh38] Chr12:2980907..15140282 [GRCh37] Chr12:2851168..15031549 [NCBI36] Chr12:12p13.33-12.3	pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	copy number gain	See cases [RCV000139052]	Chr12:121271..34603261 [GRCh38] Chr12:282465..34756196 [GRCh37] Chr12:100698..34647463 [NCBI36] Chr12:12p13.33-11.1	pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	copy number gain	See cases [RCV000139787]	Chr12:54427..34608071 [GRCh38] Chr12:282465..34761006 [GRCh37] Chr12:33854..34652273 [NCBI36] Chr12:12p13.33-11.1	pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	copy number gain	See cases [RCV000139555]	Chr12:121271..133196807 [GRCh38] Chr12:282465..133773393 [GRCh37] Chr12:100698..132283466 [NCBI36] Chr12:12p13.33-q24.33	pathogenic
GRCh38/hg38 12p13.31(chr12:8455575-8623334)x1	copy number loss	See cases [RCV000141172]	Chr12:8455575..8623334 [GRCh38] Chr12:8608171..8775930 [GRCh37] Chr12:8499438..8667197 [NCBI36] Chr12:12p13.31	likely benign
GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	copy number gain	See cases [RCV000141905]	Chr12:1258274..20657577 [GRCh38] Chr12:1367440..20810511 [GRCh37] Chr12:1237701..20701778 [NCBI36] Chr12:12p13.33-12.2	pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	copy number gain	See cases [RCV000142149]	Chr12:64620..34682902 [GRCh38] Chr12:173786..34835837 [GRCh37] Chr12:44047..34727104 [NCBI36] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	copy number gain	See cases [RCV000240164]	Chr12:148034..34178799 [GRCh37] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	copy number gain	See cases [RCV000258805]	Chr12:1..133851895 [GRCh37] Chr12:12p13.33-q24.33	pathogenic\|likely pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	copy number gain	See cases [RCV000240487]	Chr12:89061..34178799 [GRCh37] Chr12:12p13.33-11.1	pathogenic
NC_000012.12:g.(1_3750000)_(5250000_9000000)del	deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000758697]	Chr12:3750000..5250000 [GRCh38] Chr12:12p13.33-13.31	pathogenic\|not provided
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3	copy number gain	See cases [RCV000449191]	Chr12:173786..37869301 [GRCh37] Chr12:12p13.33-q11	pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)x3	copy number gain	See cases [RCV000449287]	Chr12:173786..25286865 [GRCh37] Chr12:12p13.33-12.1	pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	copy number gain	See cases [RCV000447551]	Chr12:173786..34835837 [GRCh37] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.33-12.2(chr12:173786-20026080)x3	copy number gain	See cases [RCV000446050]	Chr12:173786..20026080 [GRCh37] Chr12:12p13.33-12.2	pathogenic
GRCh37/hg19 12p13.31(chr12:8608171-8765397)	copy number loss	See cases [RCV000447204]	Chr12:8608171..8765397 [GRCh37] Chr12:12p13.31	uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	copy number gain	See cases [RCV000446017]	Chr12:189578..34756150 [GRCh37] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.31(chr12:7770670-8646662)x3	copy number gain	See cases [RCV000448032]	Chr12:7770670..8646662 [GRCh37] Chr12:12p13.31	likely benign
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	copy number gain	See cases [RCV000510482]	Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	copy number gain	See cases [RCV000511580]	Chr12:565369..34835837 [GRCh37] Chr12:12p13.33-11.1	likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	copy number gain	See cases [RCV000511643]	Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3	copy number gain	See cases [RCV000510853]	Chr12:173786..11677456 [GRCh37] Chr12:12p13.33-13.2	pathogenic
GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	copy number gain	See cases [RCV000510961]	Chr12:173786..28219229 [GRCh37] Chr12:12p13.33-11.22	pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	copy number gain	not provided [RCV000683479]	Chr12:173786..34835837 [GRCh37] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	copy number gain	not provided [RCV000683478]	Chr12:173786..34835837 [GRCh37] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	copy number gain	not provided [RCV000683480]	Chr12:173786..37869107 [GRCh37] Chr12:12p13.33-q11	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3	copy number gain	not provided [RCV000750246]	Chr12:191619..133777645 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3	copy number gain	not provided [RCV000750253]	Chr12:621220..133779118 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.31(chr12:8029351-8705395)x3	copy number gain	not provided [RCV000737754]	Chr12:8029351..8705395 [GRCh37] Chr12:12p13.31	benign
GRCh37/hg19 12p13.31(chr12:8323135-8654067)x3	copy number gain	not provided [RCV000737757]	Chr12:8323135..8654067 [GRCh37] Chr12:12p13.31	benign
GRCh37/hg19 12p13.31(chr12:8325638-8654067)x3	copy number gain	not provided [RCV000737759]	Chr12:8325638..8654067 [GRCh37] Chr12:12p13.31	benign
GRCh37/hg19 12p13.31(chr12:8548989-8654067)x3	copy number gain	not provided [RCV000737762]	Chr12:8548989..8654067 [GRCh37] Chr12:12p13.31	benign
GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3	copy number gain	not provided [RCV000750245]	Chr12:191619..31733044 [GRCh37] Chr12:12p13.33-11.21	pathogenic
GRCh37/hg19 12p13.31(chr12:6911437-9381254)x3	copy number gain	not provided [RCV000750277]	Chr12:6911437..9381254 [GRCh37] Chr12:12p13.31	uncertain significance
GRCh37/hg19 12p13.31(chr12:8511575-8654067)x3	copy number gain	not provided [RCV000750292]	Chr12:8511575..8654067 [GRCh37] Chr12:12p13.31	benign
NC_000012.12:g.(?_8456112)_(8612767_?)del	deletion	Hyper-IgM syndrome type 2 [RCV001031871]	Chr12:8608708..8765363 [GRCh37] Chr12:12p13.31	pathogenic
GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)	copy number gain	not provided [RCV000767817]	Chr12:189216..15001420 [GRCh37] Chr12:12p13.33-12.3	pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	copy number gain	not provided [RCV000847209]	Chr12:173786..34496628 [GRCh37] Chr12:12p13.33-11.1	pathogenic
NC_000012.11:g.(?_6945914)_(9027627_?)dup	duplication	Temtamy syndrome [RCV000816630]	Chr12:6945914..9027627 [GRCh37] Chr12:12p13.31	uncertain significance
NC_000012.11:g.(?_4368352)_(9027607_?)dup	duplication	Lymphoproliferative syndrome 2 [RCV003105682]	Chr12:4368352..9027607 [GRCh37] Chr12:12p13.32-13.31	uncertain significance
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	copy number gain	not provided [RCV001006470]	Chr12:274676..37869301 [GRCh37] Chr12:12p13.33-q11	pathogenic
NC_000012.11:g.(?_6945914)_(9027627_?)dup	duplication	Developmental and epileptic encephalopathy, 21 [RCV001325295]\|Klippel-Feil syndrome 3, autosomal dominant [RCV001301079]\|Temtamy syndrome [RCV000816630]\|not provided [RCV001859243]	Chr12:6945914..9027627 [GRCh37] Chr12:12p13.31	uncertain significance\|no classifications from unflagged records
NC_000012.11:g.(?_6438478)_(8756953_?)dup	duplication	not provided [RCV001970781]	Chr12:6438478..8756953 [GRCh37] Chr12:12p13.31	uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	copy number gain	not specified [RCV002052957]	Chr12:173786..34835837 [GRCh37] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	copy number gain	not specified [RCV002052955]	Chr12:173786..25286865 [GRCh37] Chr12:12p13.33-12.1	pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	copy number gain	not specified [RCV002052958]	Chr12:173786..37869301 [GRCh37] Chr12:12p13.33-q11	pathogenic
NC_000012.11:g.(?_6978008)_(9010204_?)dup	duplication	Peroxisome biogenesis disorder 2B [RCV001877402]	Chr12:6978008..9010204 [GRCh37] Chr12:12p13.31	uncertain significance
NC_000012.11:g.(?_6438478)_(9027607_?)dup	duplication	not provided [RCV001943267]	Chr12:6438478..9027607 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001007033.2(CLEC6A):c.436A>G (p.Asn146Asp)	single nucleotide variant	not specified [RCV004189402]	Chr12:8476191 [GRCh38] Chr12:8628787 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001007033.2(CLEC6A):c.509A>G (p.Asn170Ser)	single nucleotide variant	not specified [RCV004085337]	Chr12:8477343 [GRCh38] Chr12:8629939 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001007033.2(CLEC6A):c.330G>A (p.Met110Ile)	single nucleotide variant	not specified [RCV004201196]	Chr12:8465590 [GRCh38] Chr12:8618186 [GRCh37] Chr12:12p13.31	uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	copy number gain	Pallister-Killian syndrome [RCV003154827]	Chr12:176047..34179852 [GRCh37] Chr12:12p13.33-11.1	pathogenic
NM_001007033.2(CLEC6A):c.467C>T (p.Pro156Leu)	single nucleotide variant	not specified [RCV004270845]	Chr12:8476222 [GRCh38] Chr12:8628818 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001007033.2(CLEC6A):c.427C>A (p.Pro143Thr)	single nucleotide variant	not specified [RCV004257351]	Chr12:8476182 [GRCh38] Chr12:8628778 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001007033.2(CLEC6A):c.295G>T (p.Val99Phe)	single nucleotide variant	not specified [RCV004362259]	Chr12:8465555 [GRCh38] Chr12:8618151 [GRCh37] Chr12:12p13.31	likely benign
Single allele	duplication	not provided [RCV003448692]	Chr12:188053..34856694 [GRCh37] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	copy number gain	not specified [RCV003986979]	Chr12:173786..34835641 [GRCh37] Chr12:12p13.33-11.1	pathogenic
NM_001007033.2(CLEC6A):c.394G>A (p.Glu132Lys)	single nucleotide variant	not specified [RCV004437041]	Chr12:8476149 [GRCh38] Chr12:8628745 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001007033.2(CLEC6A):c.574G>T (p.Val192Phe)	single nucleotide variant	not specified [RCV004613000]	Chr12:8477408 [GRCh38] Chr12:8630004 [GRCh37] Chr12:12p13.31	uncertain significance
NC_000012.11:g.(?_7053285)_(9027607_?)del	deletion	Developmental and epileptic encephalopathy, 21 [RCV004578381]\|Peroxisome biogenesis disorder 2B [RCV004578380]	Chr12:7053285..9027607 [GRCh37] Chr12:12p13.31	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	248
Count of miRNA genes:	209
Interacting mature miRNAs:	217
Transcripts:	ENST00000382073
Prediction methods:	Miranda, Rnahybrid
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system
423	418	406	458	799	397	945	2	143	1335	114	553	2386	2370	7	544	271	654	778	30

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001007033	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001317999	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC092746	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC092865	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC247052	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK308011	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY321309	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY365135	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC132933	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC132935	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471116	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068266	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000382073 ⟹ ENSP00000371505

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	8,455,962 - 8,478,330 (+)	Ensembl

RefSeq Acc Id:

NM_001007033 ⟹ NP_001007034

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	8,455,962 - 8,478,330 (+)	NCBI
GRCh37	12	8,608,591 - 8,630,926 (+)	RGD
Build 36	12	8,499,858 - 8,522,193 (+)	NCBI Archive
Celera	12	10,144,899 - 10,166,924 (+)	RGD
HuRef	12	8,391,249 - 8,413,275 (+)	RGD
CHM1_1	12	8,577,549 - 8,599,900 (+)	NCBI
T2T-CHM13v2.0	12	8,439,728 - 8,461,787 (+)	NCBI

Sequence:

show sequence

AATGTTGGAAGTCTCTTAGTCCTATAAGAGTGTGTAGCAGTTTGTCCCTGAGCTCTAGCTTCTT
TAAATGAAGCTGAGTCTCTGGGCAACATCTTTAGGGAGAGAGGTACAAAAGGTTCCTGGACCTT
CTCAACACAGGGAGCCTGCATAATGATGCAAGAGCAGCAACCTCAAAGTACAGAGAAAAGAGGC
TGGTTGTCCCTGAGACTCTGGTCTGTGGCTGGGATTTCCATTGCACTCCTCAGTGCTTGCTTCA
TTGTGAGCTGTGTAGTAACTTACCATTTTACATATGGTGAAACTGGCAAAAGGCTGTCTGAACT
ACACTCATATCATTCAAGTCTCACCTGCTTCAGTGAAGGGACAAAGGTGCCAGCCTGGGGATGT
TGCCCAGCTTCTTGGAAGTCATTTGGTTCCAGTTGCTACTTCATTTCCAGTGAAGAGAAGGTTT
GGTCTAAGAGTGAGCAGAACTGTGTTGAGATGGGAGCACATTTGGTTGTGTTCAACACAGAAGC
AGAGCAGAATTTCATTGTCCAGCAGCTGAATGAGTCATTTTCTTATTTTCTGGGGCTTTCAGAC
CCACAAGGTAATAATAATTGGCAATGGATTGATAAGACACCTTATGAGAAAAATGTCAGATTTT
GGCACCTAGGTGAGCCCAATCATTCTGCAGAGCAATGTGCTTCAATAGTCTTCTGGAAACCTAC
AGGATGGGGCTGGAATGATGTTATCTGTGAAACTAGAAGGAATTCAATATGTGAGATGAATAAG
ATTTACCTATGAGTAGAAGCTTAATTGGAAAGAAGAGAAGAATTACTGACGTAATTTTTTCCCT
GACGTCTTTAAAATTGAACCCTATCATGAAATGATAATTTCTTCCTGAATTTACACATAATCCT
TATGTTATAGAGGTTCACAGAAATGGAAAGATACCTGTTTCCCTTTAATCAATCTTCTCGTTTC
CTCTTTTCCATTAATGATAGAATGCACCCTTCCTCTCTTTGTTCCATTCTTTCACTTGTTATTC
ATTTTTTTCTTTCTTCACACTTCATTACACAAATATTTATTGTTTCAGAGACTGTACTATTTTG
TTTGTTAGAAGATTTATAAGGCAGTATCTTTTGAAAATTATGACTTTCCTTCCTCAATATACCA
TAAAGAAATCTTTTTGGTCAAGATGGTAGTTGGAACTACAATCATCTGAAGGCCTGACAAGAGT
TGAAAGACATGTTTTCTAGATGGCTCACTCACATGGCTGGCAACTTGGTGTTGGCTATTAATGT
AACCTGGAAATAAATTTTATTCTGCAGTTAGGGATTTGGCATTTTATATATGTTGATTCAATCA
AGTTTGGCAAGCAGGGTGTTCGATACTGCTATATCCTGTATTCTTGGTTTATTTGTTTTATTTC
TGAGAAATATGTGTTAAGATCTCTCGCTGATTGGGAATTTGTCTATTTCTCATTTAAATTTTGT
CAAATCTTTCTTTGCTTGCAAGCATTTCTTGTTACCCAAATCTAATCTATTCCTGAAAATATGA
TGGTTAGCAAAGTTTGAGATAACTAGAGCCTGTAATCCATCATTTTAAATGGCAATGATAATGA
CAGTTTATTTTTATGTTATATAAAAACCTCAACAAATTTTCCAAAC

hide sequence

RefSeq Acc Id:

NM_001317999 ⟹ NP_001304928

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	8,455,962 - 8,478,330 (+)	NCBI
CHM1_1	12	8,577,549 - 8,599,900 (+)	NCBI
T2T-CHM13v2.0	12	8,439,728 - 8,461,787 (+)	NCBI

Sequence:

show sequence

AATGTTGGAAGTCTCTTAGTCCTATAAGAGTGTGTAGCAGTTTGTCCCTGAGCTCTAGCTTCTT
TAAATGAAGCTGAGTCTCTGGGCAACATCTTTAGGGAGAGAGGTACAAAAGGTTCCTGGACCTT
CTCAACACAGGGAGCCTGCATAATGATGCAAGAGCAGCAACCTCAAAGTACAGTAACTTACCAT
TTTACATATGGTGAAACTGGCAAAAGGCTGTCTGAACTACACTCATATCATTCAAGTCTCACCT
GCTTCAGTGAAGGGACAAAGGTGCCAGCCTGGGGATGTTGCCCAGCTTCTTGGAAGTCATTTGG
TTCCAGTTGCTACTTCATTTCCAGTGAAGAGAAGGTTTGGTCTAAGAGTGAGCAGAACTGTGTT
GAGATGGGAGCACATTTGGTTGTGTTCAACACAGAAGCAGAGCAGAATTTCATTGTCCAGCAGC
TGAATGAGTCATTTTCTTATTTTCTGGGGCTTTCAGACCCACAAGGTAATAATAATTGGCAATG
GATTGATAAGACACCTTATGAGAAAAATGTCAGATTTTGGCACCTAGGTGAGCCCAATCATTCT
GCAGAGCAATGTGCTTCAATAGTCTTCTGGAAACCTACAGGATGGGGCTGGAATGATGTTATCT
GTGAAACTAGAAGGAATTCAATATGTGAGATGAATAAGATTTACCTATGAGTAGAAGCTTAATT
GGAAAGAAGAGAAGAATTACTGACGTAATTTTTTCCCTGACGTCTTTAAAATTGAACCCTATCA
TGAAATGATAATTTCTTCCTGAATTTACACATAATCCTTATGTTATAGAGGTTCACAGAAATGG
AAAGATACCTGTTTCCCTTTAATCAATCTTCTCGTTTCCTCTTTTCCATTAATGATAGAATGCA
CCCTTCCTCTCTTTGTTCCATTCTTTCACTTGTTATTCATTTTTTTCTTTCTTCACACTTCATT
ACACAAATATTTATTGTTTCAGAGACTGTACTATTTTGTTTGTTAGAAGATTTATAAGGCAGTA
TCTTTTGAAAATTATGACTTTCCTTCCTCAATATACCATAAAGAAATCTTTTTGGTCAAGATGG
TAGTTGGAACTACAATCATCTGAAGGCCTGACAAGAGTTGAAAGACATGTTTTCTAGATGGCTC
ACTCACATGGCTGGCAACTTGGTGTTGGCTATTAATGTAACCTGGAAATAAATTTTATTCTGCA
GTTAGGGATTTGGCATTTTATATATGTTGATTCAATCAAGTTTGGCAAGCAGGGTGTTCGATAC
TGCTATATCCTGTATTCTTGGTTTATTTGTTTTATTTCTGAGAAATATGTGTTAAGATCTCTCG
CTGATTGGGAATTTGTCTATTTCTCATTTAAATTTTGTCAAATCTTTCTTTGCTTGCAAGCATT
TCTTGTTACCCAAATCTAATCTATTCCTGAAAATATGATGGTTAGCAAAGTTTGAGATAACTAG
AGCCTGTAATCCATCATTTTAAATGGCAATGATAATGACAGTTTATTTTTATGTTATATAAAAA
CCTCAACAAATTTTCCAAAC

hide sequence

Protein Sequences


Protein RefSeqs	NP_001007034	(Get FASTA)	NCBI Sequence Viewer
	NP_001304928	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAI32934	(Get FASTA)	NCBI Sequence Viewer
	AAI32936	(Get FASTA)	NCBI Sequence Viewer
	AAQ83725	(Get FASTA)	NCBI Sequence Viewer
	AAR13071	(Get FASTA)	NCBI Sequence Viewer
	EAW88620	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000371505
	ENSP00000371505.3
GenBank Protein	Q6EIG7	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001007034 ⟸ NM_001007033
- Peptide Label:	isoform 1
- UniProtKB:	A2RUK3 (UniProtKB/Swiss-Prot), Q6EIG7 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MMQEQQPQSTEKRGWLSLRLWSVAGISIALLSACFIVSCVVTYHFTYGETGKRLSELHSYHSSL TCFSEGTKVPAWGCCPASWKSFGSSCYFISSEEKVWSKSEQNCVEMGAHLVVFNTEAEQNFIVQ QLNESFSYFLGLSDPQGNNNWQWIDKTPYEKNVRFWHLGEPNHSAEQCASIVFWKPTGWGWNDV ICETRRNSICEMNKIYL hide sequence

RefSeq Acc Id:	NP_001304928 ⟸ NM_001317999
- Peptide Label:	isoform 2
- UniProtKB:	Q6EIG7 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MMQEQQPQSTVTYHFTYGETGKRLSELHSYHSSLTCFSEGTKVPAWGCCPASWKSFGSSCYFIS SEEKVWSKSEQNCVEMGAHLVVFNTEAEQNFIVQQLNESFSYFLGLSDPQGNNNWQWIDKTPYE KNVRFWHLGEPNHSAEQCASIVFWKPTGWGWNDVICETRRNSICEMNKIYL hide sequence

Ensembl Acc Id:

ENSP00000371505 ⟸ ENST00000382073

Protein Domains

C-type lectin

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q6EIG7-F1-model_v2	AlphaFold	Q6EIG7	1-209	view protein structure

Promoters

RGD ID:

7223069

Promoter ID:

EPDNEW_H17281

Type:

initiation region

Name:

CLEC6A_1

Description:

C-type lectin domain containing 6A

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	8,455,987 - 8,456,047	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:14556	AgrOrtholog
COSMIC	CLEC6A	COSMIC
Ensembl Genes	ENSG00000205846	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000382073	ENTREZGENE
	ENST00000382073.4	UniProtKB/Swiss-Prot
Gene3D-CATH	3.10.100.10	UniProtKB/Swiss-Prot
GTEx	ENSG00000205846	GTEx
HGNC ID	HGNC:14556	ENTREZGENE
Human Proteome Map	CLEC6A	Human Proteome Map
InterPro	C-type_lectin-like	UniProtKB/Swiss-Prot
	C-type_lectin-like/link_sf	UniProtKB/Swiss-Prot
	C-type_lectin/snaclec_domain	UniProtKB/Swiss-Prot
	CD209-like_CTLD	UniProtKB/Swiss-Prot
	CTDL_fold	UniProtKB/Swiss-Prot
KEGG Report	hsa:93978	UniProtKB/Swiss-Prot
NCBI Gene	93978	ENTREZGENE
OMIM	613579	OMIM
PANTHER	C-TYPE LECTIN DOMAIN FAMILY 19 MEMBER A-RELATED	UniProtKB/Swiss-Prot
	MANNOSE, PHOSPHOLIPASE, LECTIN RECEPTOR RELATED	UniProtKB/Swiss-Prot
Pfam	Lectin_C	UniProtKB/Swiss-Prot
PharmGKB	PA26579	PharmGKB
PROSITE	C_TYPE_LECTIN_2	UniProtKB/Swiss-Prot
SMART	CLECT	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF56436	UniProtKB/Swiss-Prot
UniProt	A2RUK3	ENTREZGENE
	CLC6A_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary	A2RUK3	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2017-03-28	CLEC6A	C-type lectin domain containing 6A		C-type lectin domain family 6 member A	Symbol and/or name change	5135510	APPROVED
2015-12-22	CLEC6A	C-type lectin domain family 6 member A		C-type lectin domain family 6, member A	Symbol and/or name change	5135510	APPROVED

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)

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Imported Disease Annotations - ClinVar