CLEC14A C-type lectin domain containing 14A [Homo sapiens (human)] - Gene

Summary

Official Symbol: CLEC14Aprovided by HGNC
Official Full Name: C-type lectin domain containing 14Aprovided by HGNC
Primary source: HGNC:HGNC:19832
See related: Ensembl:ENSG00000176435 MIM:616845; AllianceGenome:HGNC:19832
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: CEG1; EGFR-5; C14orf27
Summary: This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. This family member plays a role in cell-cell adhesion and angiogenesis. It functions in filopodia formation, cell migration and tube formation. Due to its presence at higher levels in tumor endothelium than in normal tissue endothelium, it is considered to be a candidate for tumor vascular targeting. [provided by RefSeq, Jan 2012]
Orthologs: mouse all
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Genomic context

Location:: 14q21.1

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (38254000..38256093, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (32442690..32444783, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (38723205..38725298, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CLEC14A was up-regulated in hepatocellular carcinoma and may function as a potential diagnostic biomarker.
Title: CLEC14A was up-regulated in hepatocellular carcinoma and may function as a potential diagnostic biomarker.
An evaluation of the tumour endothelial marker CLEC14A as a therapeutic target in solid tumours.
Title: An evaluation of the tumour endothelial marker CLEC14A as a therapeutic target in solid tumours.
Proteomics-based screening of the endothelial heparan sulfate interactome reveals that C-type lectin 14a (CLEC14A) is a heparin-binding protein.
Title: Proteomics-based screening of the endothelial heparan sulfate interactome reveals that C-type lectin 14a (CLEC14A) is a heparin-binding protein.
Study identified PAX7-negative human muscle-derived cell colonies also positive for the myogenic markers desmin and MYF5 and reveal the endothelial cell marker CLEC14A to be highly expressed in PAX7null cells. Transplanted PAX7neg cells repopulate the satellite cell niche where they re-express PAX7, or, strikingly, CLEC14A. In conclusion, transplanted human cells do not depend on PAX7 for muscle regeneration.
Title: Human muscle-derived CLEC14A-positive cells regenerate muscle independent of PAX7.
Activin receptor-like kinase 1 is associated with immune cell infiltration and regulates CLEC14A transcription in cancer.
Title: Activin receptor-like kinase 1 is associated with immune cell infiltration and regulates CLEC14A transcription in cancer.
CLEC14A acts as an antitumor role in lung adenocarcinoma (LUAD) by suppressing cell proliferation, migration, invasion, promoting cell apoptosis, and reducing tumorigenicity in nude mice. Thus, the inhibition of CLEC14A methylation is a novel strategy for the clinic treatment of LUAD
Title: Methylation of CLEC14A is associated with its expression and lung adenocarcinoma progression.
These findings identify novel protein interactions involving CLEC14A, CD93 and CD248 with MMRN2 as targetable components of vessel formation
Title: Multimerin-2 is a ligand for group 14 family C-type lectins CLEC14A, CD93 and CD248 spanning the endothelial pericyte interface.
Results suggest that CLEC14A-MMRN2 binding has a role in inducing sprouting angiogenesis during tumor growth, which has the potential to be manipulated in future antiangiogenic therapy design.
Title: Blocking CLEC14A-MMRN2 binding inhibits sprouting angiogenesis and tumour growth.
The CLEC14A-MMRN2 interaction is involved in sprouting angiogenesis. Disrupting this interaction with monoclonal antibodies directed against CLEC14A show anti-angiogenic and anti-tumor effects.
Title: Blocking CLEC14A-MMRN2 binding inhibits sprouting angiogenesis and tumour growth.
CLEC14A is a matrix component which binds to MMRN2 in the process of endothelial cells transformation in tumor angiogenesis.
Title: SILAC-based proteomics of human primary endothelial cell morphogenesis unveils tumor angiogenic markers.

Submit: New GeneRIF Correction See all GeneRIFs (12)

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

EBI GWAS Catalog

Description
Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid. EBI GWAS Catalog EBI GWAS CatalogPubMed

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables carbohydrate binding	IEA Inferred from Electronic Annotation more info
enables extracellular matrix binding	IBA Inferred from Biological aspect of Ancestor more info
enables extracellular matrix protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables extracellular matrix protein binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell migration involved in sprouting angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in lymphangiogenesis	IEA Inferred from Electronic Annotation more info
involved_in vascular endothelial growth factor receptor-2 signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vascular endothelial growth factor receptor-3 signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in collagen-containing extracellular matrix	HDA more info	PubMed
is_active_in external side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in external side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: C-type lectin domain family 14 member A

Names: ClECT and EGF-like domain containing protein; epidermal growth factor receptor 5

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.

mRNA and Protein(s)

NM_175060.3 → NP_778230.1 C-type lectin domain family 14 member A precursor

See identical proteins and their annotated locations for NP_778230.1

Status: REVIEWED

Source sequence(s)

AY358395, AY606132

Consensus CDS

CCDS9667.1

UniProtKB/Swiss-Prot

Q695G9, Q6PWT6, Q86T13, Q8N5V5

Related

ENSP00000353013.2, ENST00000342213.3

Conserved Domains (2) summary

cd03600
Location:32 → 175

CLECT_thrombomodulin_like; C-type lectin-like domain (CTLD) of the type found in human thrombomodulin(TM), Endosialin, C14orf27, and C1qR

pfam14670
Location:254 → 286

FXa_inhibition; Coagulation Factor Xa inhibitory site