CLEC7A C-type lectin domain containing 7A [Homo sapiens (human)] - Gene

Summary

Official Symbol: CLEC7Aprovided by HGNC
Official Full Name: C-type lectin domain containing 7Aprovided by HGNC
Primary source: HGNC:HGNC:14558
See related: Ensembl:ENSG00000172243 MIM:606264; AllianceGenome:HGNC:14558
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BGR; CD369; CANDF4; SCARE2; DECTIN1; CLECSF12
Summary: This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. The encoded glycoprotein is a small type II membrane receptor with an extracellular C-type lectin-like domain fold and a cytoplasmic domain with an immunoreceptor tyrosine-based activation motif. It functions as a pattern-recognition receptor that recognizes a variety of beta-1,3-linked and beta-1,6-linked glucans from fungi and plants, and in this way plays a role in innate immune response. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008]
Expression: Broad expression in appendix (RPKM 22.1), bone marrow (RPKM 11.8) and 17 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12p13.2

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (10116777..10130304, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (10003452..10016972, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (10269376..10282798, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Dectin-1 aggravates neutrophil inflammation through caspase-11/4-mediated macrophage pyroptosis in asthma.
Title: Dectin-1 aggravates neutrophil inflammation through caspase-11/4-mediated macrophage pyroptosis in asthma.
Cell-intrinsic C5a synergizes with Dectin-1 in macrophages to mediate fungal killing.
Title: Cell-intrinsic C5a synergizes with Dectin-1 in macrophages to mediate fungal killing.
Dectin-1 ligands produce distinct training phenotypes in human monocytes through differential activation of signaling networks.
Title: Dectin-1 ligands produce distinct training phenotypes in human monocytes through differential activation of signaling networks.
DECTIN-1: A modifier protein in CTLA-4 haploinsufficiency.
Title: DECTIN-1: A modifier protein in CTLA-4 haploinsufficiency.
Dectin-1 multimerization and signaling depends on fungal beta-glucan structure and exposure.
Title: Dectin-1 multimerization and signaling depends on fungal β-glucan structure and exposure.
Blocking Dectin-1 prevents colorectal tumorigenesis by suppressing prostaglandin E2 production in myeloid-derived suppressor cells and enhancing IL-22 binding protein expression.
Title: Blocking Dectin-1 prevents colorectal tumorigenesis by suppressing prostaglandin E2 production in myeloid-derived suppressor cells and enhancing IL-22 binding protein expression.
Gene expression analysis of toll like receptor 2 and 4, Dectin-1, Osteopontin and inflammatory cytokines in human dental pulp ex-vivo.
Title: Gene expression analysis of toll like receptor 2 and 4, Dectin-1, Osteopontin and inflammatory cytokines in human dental pulp ex-vivo.
Human Dectin-1 deficiency impairs macrophage-mediated defense against phaeohyphomycosis.
Title: Human Dectin-1 deficiency impairs macrophage-mediated defense against phaeohyphomycosis.
Dectin-1 as a Potential Inflammatory Biomarker for Metabolic Inflammation in Adipose Tissue of Individuals with Obesity.
Title: Dectin-1 as a Potential Inflammatory Biomarker for Metabolic Inflammation in Adipose Tissue of Individuals with Obesity.
Epigenetic regulation of epithelial dectin-1 through an IL-33-STAT3 axis in allergic disease.
Title: Epigenetic regulation of epithelial dectin-1 through an IL-33-STAT3 axis in allergic disease.

Submit: New GeneRIF Correction See all GeneRIFs (110)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Aspergillosis, susceptibility to MedGen: C3279774 OMIM: 614079 GeneReviews: Not available	Compare labs
Familial chronic mucocutaneous candidiasis MedGen: C0341024 OMIM: 613108 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:434012 (e-PCR)
- UniSTS:157204

D11S2560 (e-PCR)
- UniSTS:37928

D5S2354 (e-PCR)
- UniSTS:473392

NoName (e-PCR)
- UniSTS:483752

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables (1->3)-beta-D-glucan binding	IBA Inferred from Biological aspect of Ancestor more info
enables (1->3)-beta-D-glucan binding	IDA Inferred from Direct Assay more info	PubMed
enables (1->3)-beta-D-glucan binding	ISS Inferred from Sequence or Structural Similarity more info
enables (1->3)-beta-D-glucan binding	TAS Traceable Author Statement more info	PubMed
enables MHC protein binding	NAS Non-traceable Author Statement more info	PubMed
enables carbohydrate binding	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables pattern recognition receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables pattern recognition receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables pattern recognition receptor activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in T cell activation	TAS Traceable Author Statement more info	PubMed
involved_in antifungal innate immune response	ISS Inferred from Sequence or Structural Similarity more info
involved_in carbohydrate mediated signaling	TAS Traceable Author Statement more info	PubMed
involved_in cell activation	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell recognition	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to molecule of fungal origin	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to molecule of fungal origin	ISS Inferred from Sequence or Structural Similarity more info
involved_in defense response to protozoan	NAS Non-traceable Author Statement more info	PubMed
involved_in detection of fungus	IDA Inferred from Direct Assay more info	PubMed
involved_in detection of molecule of fungal origin	IDA Inferred from Direct Assay more info	PubMed
involved_in detection of molecule of fungal origin	ISS Inferred from Sequence or Structural Similarity more info
involved_in detection of yeast	ISS Inferred from Sequence or Structural Similarity more info
involved_in inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in innate immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in phagocytosis, recognition	IBA Inferred from Biological aspect of Ancestor more info
involved_in phagocytosis, recognition	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of DNA-binding transcription factor activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of NF-kappaB transcription factor activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of T-helper 17 type immune response	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of positive regulation of calcium-mediated signaling	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of canonical NF-kappaB signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell maturation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cytokine production involved in immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cytokine production involved in inflammatory response	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of dendritic cell cytokine production	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of interleukin-1 beta production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of interleukin-10 production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of interleukin-10 production	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of interleukin-12 production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of interleukin-2 production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of interleukin-2 production	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of interleukin-23 production	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of interleukin-6 production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of interleukin-6 production	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of interleukin-8 production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of killing of cells of another organism	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of lymphocyte activation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of monocyte chemotactic protein-1 production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of nitric oxide biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of phagocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein-containing complex assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of respiratory burst	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of superoxide anion generation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of tumor necrosis factor production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of tumor necrosis factor production	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of type II interferon production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of wound healing	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of calcineurin-NFAT signaling cascade	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of canonical NF-kappaB signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of canonical NF-kappaB signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to yeast	ISS Inferred from Sequence or Structural Similarity more info
involved_in stimulatory C-type lectin receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in cell surface	IBA Inferred from Biological aspect of Ancestor more info
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	TAS Traceable Author Statement more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: C-type lectin domain family 7 member A

Names: C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 12; C-type lectin superfamily member 12; DC-associated C-type lectin 1; beta-glucan receptor; dectin-1; dendritic cell-associated C-type lectin-1; lectin-like receptor 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_016291.1 RefSeqGene

Range

5001..18493

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_179

mRNA and Protein(s)

NM_022570.5 → NP_072092.2 C-type lectin domain family 7 member A isoform b

See identical proteins and their annotated locations for NP_072092.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1, resulting in a shorter protein (isoform b) compared to isoform a. Variant 2 has been alternatively referred to as variant 1 and isoform b has been alternatively referred to as beta in the literature.

Source sequence(s)

AF400596, AY009090, AY359002, CR749536, DA193873

Consensus CDS

CCDS8613.1

UniProtKB/Swiss-Prot

Q9BXN2

UniProtKB/TrEMBL

Q68D78

Related

ENSP00000266456.6, ENST00000353231.9

Conserved Domains (3) summary

cd03593
Location:74 → 197

CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)

PHA03097
Location:33 → 195

PHA03097; C-type lectin-like protein; Provisional

pfam08391
Location:40 → 67

Ly49; Ly49-like protein, N-terminal region
NM_197947.3 → NP_922938.1 C-type lectin domain family 7 member A isoform a

See identical proteins and their annotated locations for NP_922938.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variant 1 has been alternatively referred to as variant 2 and isoform a has been alternatively referred to as alpha in the literature.

Source sequence(s)

AF400595, AY009090, AY359002, CR749536, DA193873

Consensus CDS

CCDS41753.1

UniProtKB/Swiss-Prot

B2R861, B7Z494, B7Z5A9, B7Z5B9, Q6IPS7, Q96D32, Q96DR9, Q96LD3, Q96PA4, Q96PA5, Q96PA6, Q96PA7, Q96PA8, Q9BXN2, Q9H1K3

Related

ENSP00000302569.8, ENST00000304084.13

Conserved Domains (2) summary

cd03593
Location:120 → 243

CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)

pfam08391
Location:40 → 67

Ly49; Ly49-like protein, N-terminal region
NM_197948.3 → NP_922939.1 C-type lectin domain family 7 member A isoform c

See identical proteins and their annotated locations for NP_922939.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate exon, which results in a frameshift and an early stop codon, compared to variant 1. The resulting protein (isoform c) is shorter and has a distinct C-terminus, compared to isoform a.

Source sequence(s)

AF400597, AY009090, AY359002, CR749536, DA193873

Consensus CDS

CCDS41754.1

UniProtKB/TrEMBL

B7Z1Y8

Related

ENSP00000431461.1, ENST00000533022.5

Conserved Domains (2) summary

pfam08391
Location:40 → 67

Ly49; Ly49-like protein, N-terminal region

cl02432
Location:120 → 164

CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
NM_197949.3 → NP_922940.1 C-type lectin domain family 7 member A isoform d

See identical proteins and their annotated locations for NP_922940.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks two alternate exons, which results in a frameshift and an early stop codon, compared to variant 1. The resulting protein (isoform d) is shorter and contains a distinct C-terminus, compared to isoform a. Isoform d has been alternatively referred to as 'c' in the literature.

Source sequence(s)

AA361063, AY009090, AY026771, AY359002, CR749536, DA193873

Consensus CDS

CCDS53744.1

UniProtKB/Swiss-Prot

Q9BXN2

UniProtKB/TrEMBL

Q68D78

Related

ENSP00000298523.5, ENST00000298523.9

Conserved Domains (2) summary

pfam08391
Location:40 → 67

Ly49; Ly49-like protein, N-terminal region

cl02432
Location:74 → 118

CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
NM_197950.3 → NP_922941.1 C-type lectin domain family 7 member A isoform e

See identical proteins and their annotated locations for NP_922941.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks an alternate in-frame exon compared to variant 1, resulting in a shorter protein (isoform e) compared to isoform a.

Source sequence(s)

AF400599, AY009090, AY359002, CR749536, DA193873

Consensus CDS

CCDS8614.1

UniProtKB/Swiss-Prot

Q9BXN2

UniProtKB/TrEMBL

Q68D78

Related

ENSP00000379743.2, ENST00000396484.6

Conserved Domains (1) summary

cd03593
Location:41 → 164

CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)
NM_197954.3 → NP_922945.1 C-type lectin domain family 7 member A isoform f

See identical proteins and their annotated locations for NP_922945.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) has multiple differences in the coding region, compared to variant 1, one of which results in an early stop codon. The resulting protein (isoform f) has a distinct C-terminus and is much shorter than isoform a.

Source sequence(s)

BC013385, DA193873

Consensus CDS

CCDS8617.1

UniProtKB/TrEMBL

A0A0S2Z5Q1

Related

ENSP00000312089.4, ENST00000310002.4

Conserved Domains (1) summary

pfam08391
Location:40 → 67

Ly49; Ly49-like protein, N-terminal region

RNA

NR_125336.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (9) contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AK294111, AY359002, DA193873

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

10116777..10130304 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047429359.1 → XP_047285315.1 C-type lectin domain family 7 member A isoform X1

UniProtKB/Swiss-Prot

B2R861, B7Z494, B7Z5A9, B7Z5B9, Q6IPS7, Q96D32, Q96DR9, Q96LD3, Q96PA4, Q96PA5, Q96PA6, Q96PA7, Q96PA8, Q9BXN2, Q9H1K3

Related

ENSP00000432876.1, ENST00000529761.5
XM_006719135.4 → XP_006719198.1 C-type lectin domain family 7 member A isoform X3

See identical proteins and their annotated locations for XP_006719198.1

UniProtKB/TrEMBL

B7Z1Y8

Related

ENSP00000434392.1, ENST00000531192.5

Conserved Domains (2) summary

pfam08391
Location:40 → 67

Ly49; Ly49-like protein, N-terminal region

cl02432
Location:120 → 164

CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
XM_047429360.1 → XP_047285316.1 C-type lectin domain family 7 member A isoform X4
XM_024449132.2 → XP_024304900.1 C-type lectin domain family 7 member A isoform X2

UniProtKB/TrEMBL

A0A2Z5YRU4, B7Z1Y8

Conserved Domains (2) summary

pfam08391
Location:40 → 67

Ly49; Ly49-like protein, N-terminal region

cl02432
Location:120 → 164

CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
XM_024449133.2 → XP_024304901.1 C-type lectin domain family 7 member A isoform X5

UniProtKB/TrEMBL

A0A2Z5YRT6

Conserved Domains (2) summary

pfam08391
Location:40 → 67

Ly49; Ly49-like protein, N-terminal region

cl02432
Location:74 → 118

CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain

Alternate T2T-CHM13v2.0

Genomic

NC_060936.1 Alternate T2T-CHM13v2.0

Range

10003452..10016972 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054372903.1 → XP_054228878.1 C-type lectin domain family 7 member A isoform X1

UniProtKB/Swiss-Prot

B2R861, B7Z494, B7Z5A9, B7Z5B9, Q6IPS7, Q96D32, Q96DR9, Q96LD3, Q96PA4, Q96PA5, Q96PA6, Q96PA7, Q96PA8, Q9BXN2, Q9H1K3
XM_054372904.1 → XP_054228879.1 C-type lectin domain family 7 member A isoform X3

RNA

XR_008488661.1 RNA Sequence
XR_008488662.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_197951.1: Suppressed sequence

Description

NM_197951.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
NM_197952.1: Suppressed sequence

Description

NM_197952.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
NM_197953.1: Suppressed sequence

Description

NM_197953.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.