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

Gene ID: 131566, updated on 4-Jan-2020

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
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
Expression
Broad expression in testis (RPKM 18.8), heart (RPKM 11.1) and 22 other tissues See more
Orthologs

Genomic context

See DCBLD2 in Genome Data Viewer
Location:
3q12.1; 3
Exon count:
18
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (98795941..98901695, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (98514814..98620566, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ST3GAL6 antisense RNA 1 Neighboring gene ST3 beta-galactoside alpha-2,3-sialyltransferase 6 Neighboring gene PDZ and LIM domain 1 pseudogene 4 Neighboring gene RNA, U6 small nuclear 26, pseudogene Neighboring gene uncharacterized LOC105374002 Neighboring gene RNA, U6 small nuclear 1263, pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
intracellular receptor signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
negative regulation of cell growth IDA
Inferred from Direct Assay
more info
PubMed 
wound healing IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

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)

  1. NM_080927.4NP_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
    Q96PD2
    Related
    ENSP00000321573.6, ENST00000326840.11
    Conserved Domains (4) summary
    smart00603
    Location:193276
    LCCL; LCCL domain
    smart00231
    Location:291449
    FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain
    cd00041
    Location:72186
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    cd00057
    Location:296448
    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: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    98795941..98901695 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (4) summary
    smart00603
    Location:117200
    LCCL; LCCL domain
    smart00231
    Location:215373
    FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain
    cd00057
    Location:220372
    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:69110
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
  2. XM_024453348.1XP_024309116.1  discoidin, CUB and LCCL domain-containing protein 2 isoform X2

    Conserved Domains (3) summary
    smart00603
    Location:87170
    LCCL; LCCL domain
    cd00041
    Location:280
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    cd00057
    Location:190342
    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.
  3. XM_024453347.1XP_024309115.1  discoidin, CUB and LCCL domain-containing protein 2 isoform X2

    Conserved Domains (3) summary
    smart00603
    Location:87170
    LCCL; LCCL domain
    cd00041
    Location:280
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    cd00057
    Location:190342
    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.
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