DCBLD2 discoidin, CUB and LCCL domain containing 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DCBLD2provided by HGNC
Official Full Name: discoidin, CUB and LCCL domain containing 2provided by HGNC
Primary source: HGNC:HGNC:24627
See related: Ensembl:ENSG00000057019 MIM:608698; AllianceGenome:HGNC:24627
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ESDN; CLCP1
Summary: Predicted to enable signaling receptor activity. Involved in negative regulation of cell growth and wound healing. Located in cell surface and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in testis (RPKM 18.8), heart (RPKM 11.1) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q12.1; 3

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (98795941..98901695, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (101504222..101610006, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (98514785..98620539, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

CD146 promotes malignant progression of breast phyllodes tumor through suppressing DCBLD2 degradation and activating the AKT pathway.
Title: CD146 promotes malignant progression of breast phyllodes tumor through suppressing DCBLD2 degradation and activating the AKT pathway.
cDCBLD2 mediates sorafenib resistance in hepatocellular carcinoma by sponging miR-345-5p binding to the TOP2A coding sequence.
Title: cDCBLD2 mediates sorafenib resistance in hepatocellular carcinoma by sponging miR-345-5p binding to the TOP2A coding sequence.
miR-451a suppresses papillary thyroid cancer cell proliferation and invasion and facilitates apoptosis through targeting DCBLD2 and AKT1.
Title: miR-451a suppresses papillary thyroid cancer cell proliferation and invasion and facilitates apoptosis through targeting DCBLD2 and AKT1.
Transmembrane protein DCBLD2 is correlated with poor prognosis and affects phenotype by regulating epithelial-mesenchymal transition in human glioblastoma cells.
Title: Transmembrane protein DCBLD2 is correlated with poor prognosis and affects phenotype by regulating epithelial-mesenchymal transition in human glioblastoma cells.
ESDN inhibits melanoma progression by blocking E-selectin expression in endothelial cells via STAT3.
Title: ESDN inhibits melanoma progression by blocking E-selectin expression in endothelial cells via STAT3.
A homozygous nonsense mutation in DCBLD2 is a candidate cause of developmental delay, dysmorphic features and restrictive cardiomyopathy.
Title: A homozygous nonsense mutation in DCBLD2 is a candidate cause of developmental delay, dysmorphic features and restrictive cardiomyopathy.
FYN and ABL Regulate the Interaction Networks of the DCBLD Receptor Family.
Title: FYN and ABL Regulate the Interaction Networks of the DCBLD Receptor Family.
Association of DCBLD2 upregulation with tumor progression and poor survival in colorectal cancer.
Title: Association of DCBLD2 upregulation with tumor progression and poor survival in colorectal cancer.
The DCBLD receptor family: emerging signaling roles in development, homeostasis and disease.
Title: The DCBLD receptor family: emerging signaling roles in development, homeostasis and disease.
Dynamic multi-site phosphorylation by Fyn and Abl drives the interaction between CRKL and the novel scaffolding receptors DCBLD1 and DCBLD2.
Title: Dynamic multi-site phosphorylation by Fyn and Abl drives the interaction between CRKL and the novel scaffolding receptors DCBLD1 and DCBLD2.

Submit: New GeneRIF Correction See all GeneRIFs (23)

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
A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus. 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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Markers

RH78772 (e-PCR)
- UniSTS:9002

PMC229255P3 (e-PCR)
- UniSTS:272170

SHGC-36679 (e-PCR)
- UniSTS:6234

STS-D29024 (e-PCR)
- UniSTS:58758

STS-N69212 (e-PCR)
- UniSTS:52621

SHGC-37287 (e-PCR)
- UniSTS:16270

RH98345 (e-PCR)
- UniSTS:90774

RH66607 (e-PCR)
- UniSTS:8108

RH91597 (e-PCR)
- UniSTS:90038

GDB:335751 (e-PCR)
- UniSTS:156601

D3S3963 (e-PCR)
- UniSTS:47819

RH47632 (e-PCR)
- UniSTS:73424

RH80269 (e-PCR)
- UniSTS:83681

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in intracellular receptor signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of cell growth	IDA Inferred from Direct Assay more info	PubMed
involved_in wound healing	IBA Inferred from Biological aspect of Ancestor more info
involved_in wound healing	IDA Inferred from Direct Assay more info	PubMed

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

General protein information

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Preferred Names: discoidin, CUB and LCCL domain-containing protein 2

Names: 1700055P21Rik; CUB, LCCL and coagulation factor V/VIII-homology domains protein 1; coagulation factor V/VIII-homology domains protein 1; endothelial and smooth muscle cell-derived neuropilin-like protein

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_080927.4 → NP_563615.3 discoidin, CUB and LCCL domain-containing protein 2 precursor

See identical proteins and their annotated locations for NP_563615.3

Status: VALIDATED

Source sequence(s)

AB073146, AC026303, AC106728, AF387547

Consensus CDS

CCDS46878.1

UniProtKB/Swiss-Prot

B7WNL1, D3DN41, Q8N6M4, Q8TDX2, Q96PD2

Related

ENSP00000321573.6, ENST00000326840.11

Conserved Domains (3) summary

smart00603
Location:193 → 276

LCCL; LCCL domain

cd00041
Location:72 → 186

CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

cd00057
Location:296 → 448

FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

98795941..98901695 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011512419.3 → XP_011510721.1 discoidin, CUB and LCCL domain-containing protein 2 isoform X1

Conserved Domains (4) summary

smart00603
Location:117 → 200

LCCL; LCCL domain

smart00231
Location:215 → 373

FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain

cd00057
Location:220 → 372

FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.

cl00049
Location:69 → 110

CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
XM_024453348.2 → XP_024309116.1 discoidin, CUB and LCCL domain-containing protein 2 isoform X2

UniProtKB/TrEMBL

B7Z7Y3

Conserved Domains (3) summary

smart00603
Location:87 → 170

LCCL; LCCL domain

cd00041
Location:2 → 80

CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

cd00057
Location:190 → 342

FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.