DCC DCC netrin 1 receptor [Homo sapiens (human)] - Gene

Summary

Official Symbol: DCCprovided by HGNC
Official Full Name: DCC netrin 1 receptorprovided by HGNC
Primary source: HGNC:HGNC:2701
See related: Ensembl:ENSG00000187323 MIM:120470; AllianceGenome:HGNC:2701
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: CRC18; CRCR1; MRMV1; HGPPS2; IGDCC1; NTN1R1
Summary: This gene encodes a netrin 1 receptor. The transmembrane protein is a member of the immunoglobulin superfamily of cell adhesion molecules, and mediates axon guidance of neuronal growth cones towards sources of netrin 1 ligand. The cytoplasmic tail interacts with the tyrosine kinases Src and focal adhesion kinase (FAK, also known as PTK2) to mediate axon attraction. The protein partially localizes to lipid rafts, and induces apoptosis in the absence of ligand. The protein functions as a tumor suppressor, and is frequently mutated or downregulated in colorectal cancer and esophageal carcinoma. [provided by RefSeq, Oct 2009]
Expression: Biased expression in testis (RPKM 2.4), brain (RPKM 1.4) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 18q21.2

Exon count:: 31

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (52340197..53535899)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (52543078..53739020)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (49866567..51062269)

Chromosome 18 - NC_000018.10 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?

NME1 and DCC variants are associated with susceptibility and tumor characteristics in Mexican patients with colorectal cancer.
Title: NME1 and DCC variants are associated with susceptibility and tumor characteristics in Mexican patients with colorectal cancer.
Identification of specific codon 201 mutation of the DCC Gene in the colonoscopic specimen of colorectal cancer.
Title: Identification of specific codon 201 mutation of the DCC Gene in the colonoscopic specimen of colorectal cancer.
An imbalance of netrin-1 and DCC during nigral degeneration in experimental models and patients with Parkinson's disease.
Title: An imbalance of netrin-1 and DCC during nigral degeneration in experimental models and patients with Parkinson's disease.
Mirror movements and callosal dysgenesis in a family with a DCC mutation: Neuropsychological and neuroimaging outcomes.
Title: Mirror movements and callosal dysgenesis in a family with a DCC mutation: Neuropsychological and neuroimaging outcomes.
Corticolimbic DCC gene co-expression networks as predictors of impulsivity in children.
Title: Corticolimbic DCC gene co-expression networks as predictors of impulsivity in children.
Genetic Susceptibility of DCC Gene in Gallbladder Cancer in Kashmir and Meta-Analysis.
Title: Genetic Susceptibility of DCC Gene in Gallbladder Cancer in Kashmir and Meta-Analysis.
Association between serum netrin-1, netrin-4 and risk of the acute coronary syndrome in patients with type 2 diabetes mellitus-A pilot study.
Title: Association between serum netrin-1, netrin-4 and risk of the acute coronary syndrome in patients with type 2 diabetes mellitus-A pilot study.
DCC gene network in the prefrontal cortex is associated with total brain volume in childhood.
Title: DCC gene network in the prefrontal cortex is associated with total brain volume in childhood.
Netrin-1 and its receptor DCC modulate survival and death of dopamine neurons and Parkinson's disease features.
Title: Netrin-1 and its receptor DCC modulate survival and death of dopamine neurons and Parkinson's disease features.
A novel homozygous frameshift mutation in the DCC gene in a Pakistani family with autosomal recessive horizontal gaze palsy with progressive scoliosis-2 with impaired intellectual development.
Title: A novel homozygous frameshift mutation in the DCC gene in a Pakistani family with autosomal recessive horizontal gaze palsy with progressive scoliosis-2 with impaired intellectual development.

Submit: New GeneRIF Correction See all GeneRIFs (88)

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
Colorectal cancer MedGen: C0346629 OMIM: 114500 GeneReviews: Lynch Syndrome	Compare labs
Gaze palsy, familial horizontal, with progressive scoliosis, 2 MedGen: C4479640 OMIM: 617542 GeneReviews: Not available	Compare labs
Malignant tumor of esophagus MedGen: C0546837 OMIM: 133239 GeneReviews: Not available	Compare labs
Mirror movements 1 MedGen: C1834870 OMIM: 157600 GeneReviews: Congenital Mirror Movements	Compare labs

EBI GWAS Catalog

Description
A genome-wide association study identifies SNP in DCC is associated with gallbladder cancer in the Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications. EBI GWAS Catalog EBI GWAS CatalogPubMed
Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study for biomarker identification of Rapamycin and Everolimus using a lymphoblastoid cell line system. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. 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

D18S484 (e-PCR), detects polymorphism
- UniSTS:9992

D18S1048 (e-PCR)
- UniSTS:62235

RH121186 (e-PCR)
- UniSTS:134180

G63369 (e-PCR)
- UniSTS:140334

Dcc (e-PCR), detects polymorphism
- UniSTS:471087

SHGC-82304 (e-PCR)
- UniSTS:104245

WI-16306 (e-PCR)
- UniSTS:28993

D18S101 (e-PCR)
- UniSTS:147780

RH120598 (e-PCR)
- UniSTS:132431

AFM318xd5 (e-PCR)
- UniSTS:13647

G54638 (e-PCR)
- UniSTS:117839

RH120209 (e-PCR)
- UniSTS:133202

D18S8 (e-PCR)
- UniSTS:147035

SHGC-144200 (e-PCR)
- UniSTS:183133

RH123619 (e-PCR)
- UniSTS:136038

D18S1156 (e-PCR), detects polymorphism
- UniSTS:33384

D18S867 (e-PCR)
- UniSTS:23927

SHGC-81593 (e-PCR)
- UniSTS:103549

SHGC-155675 (e-PCR)
- UniSTS:185216

D18S539 (e-PCR), detects polymorphism
- UniSTS:39300

Dcc (e-PCR), detects polymorphism
- UniSTS:531333

D18S851 (e-PCR)
- UniSTS:39301

SHGC-132778 (e-PCR)
- UniSTS:170887

D18S484 (e-PCR), detects polymorphism
- UniSTS:74644

GDB:201888 (e-PCR)
- UniSTS:156073

GDB:201890 (e-PCR)
- UniSTS:156074

GDB:201891 (e-PCR)
- UniSTS:156075

GDB:201893 (e-PCR)
- UniSTS:156077

GDB:201894 (e-PCR)
- UniSTS:156078

D18S90 (e-PCR)
- UniSTS:147631

GDB:201895 (e-PCR)
- UniSTS:156079

GDB:201896 (e-PCR)
- UniSTS:156080

GDB:201897 (e-PCR)
- UniSTS:156081

GDB:201898 (e-PCR)
- UniSTS:156082

GDB:201899 (e-PCR)
- UniSTS:156083

GDB:201900 (e-PCR)
- UniSTS:156084

GDB:201901 (e-PCR)
- UniSTS:156085

D18S846 (e-PCR), detects polymorphism
- UniSTS:65974

GDB:201902 (e-PCR)
- UniSTS:156086

RH123222 (e-PCR)
- UniSTS:135607

GDB:201903 (e-PCR)
- UniSTS:156087

GDB:201904 (e-PCR)
- UniSTS:156088

GDB:201905 (e-PCR)
- UniSTS:156089

GDB:201906 (e-PCR)
- UniSTS:156090

GDB:201907 (e-PCR)
- UniSTS:156091

SHGC-142014 (e-PCR)
- UniSTS:171195

GDB:201909 (e-PCR)
- UniSTS:156093

GDB:201910 (e-PCR)
- UniSTS:156094

SHGC-111533 (e-PCR)
- UniSTS:168382

D18S1289 (e-PCR)
- UniSTS:7103

GDB:201912 (e-PCR)
- UniSTS:156096

GDB:201913 (e-PCR)
- UniSTS:156097

GDB:201914 (e-PCR)
- UniSTS:156098

GDB:201915 (e-PCR)
- UniSTS:156099

GDB:201916 (e-PCR)
- UniSTS:156100

GDB:201917 (e-PCR)
- UniSTS:156101

GDB:201918 (e-PCR)
- UniSTS:156102

GDB:201919 (e-PCR)
- UniSTS:156103

GDB:201920 (e-PCR)
- UniSTS:156104

SHGC-145384 (e-PCR)
- UniSTS:174540

DCC_7283 (e-PCR)
- UniSTS:466131

G19290 (e-PCR)
- UniSTS:44505

RH91830 (e-PCR)
- UniSTS:90860

SHGC-143101 (e-PCR)
- UniSTS:174064

D18S1056 (e-PCR)
- UniSTS:76283

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane signaling receptor activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in anterior/posterior axon guidance	IEA Inferred from Electronic Annotation more info
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in axon guidance	IBA Inferred from Biological aspect of Ancestor more info
involved_in axonogenesis	TAS Traceable Author Statement more info	PubMed
involved_in cell-cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in dorsal/ventral axon guidance	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of collateral sprouting	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of dendrite development	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of neuron projection development	TAS Traceable Author Statement more info	PubMed
involved_in neuron migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in postsynaptic modulation of chemical synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in spinal cord ventral commissure morphogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Schaffer collateral - CA1 synapse	IEA Inferred from Electronic Annotation more info
is_active_in axonal growth cone	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cell surface	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynaptic density membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: netrin receptor DCC

Names: colorectal cancer suppressor; deleted in colorectal carcinoma; immunoglobulin superfamily DCC subclass member 1; putative colorectal tumor suppressor; tumor suppressor protein DCC

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_013341.2 RefSeqGene

Range

5026..1200728

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1107

mRNA and Protein(s)

NM_005215.4 → NP_005206.2 netrin receptor DCC

See identical proteins and their annotated locations for NP_005206.2

Status: REVIEWED

Source sequence(s)

AC011155, AC103949, BC036524, X76132

Consensus CDS

CCDS11952.1

UniProtKB/Swiss-Prot

P43146

Related

ENSP00000389140.2, ENST00000442544.7

Conserved Domains (8) summary

cd05722
Location:41 → 136

Ig1_Neogenin; First immunoglobulin (Ig)-like domain in neogenin and similar proteins

smart00408
Location:153 → 219

IGc2; Immunoglobulin C-2 Type

smart00060
Location:726 → 805

FN3; Fibronectin type 3 domain

smart00410
Location:147 → 224

IG_like; Immunoglobulin like

cd00063
Location:528 → 617

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam07679
Location:331 → 417

I-set; Immunoglobulin I-set domain

pfam06583
Location:1148 → 1445

Neogenin_C; Neogenin C-terminus

cl11960
Location:347 → 417

Ig; Immunoglobulin domain

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_000018.10 Reference GRCh38.p14 Primary Assembly

Range

52340197..53535899

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017025568.2 → XP_016881057.1 netrin receptor DCC isoform X1
XM_017025569.2 → XP_016881058.1 netrin receptor DCC isoform X2
XM_047437311.1 → XP_047293267.1 netrin receptor DCC isoform X3
XM_011525844.3 → XP_011524146.1 netrin receptor DCC isoform X4

UniProtKB/TrEMBL

J3QS93

Related

ENSP00000464582.1, ENST00000581580.5

Conserved Domains (5) summary

smart00060
Location:381 → 460

FN3; Fibronectin type 3 domain

cd00063
Location:183 → 272

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam07679
Location:2 → 72

I-set; Immunoglobulin I-set domain

pfam06583
Location:803 → 1100

Neogenin_C; Neogenin C-terminus

cl11960
Location:2 → 72

Ig; Immunoglobulin domain