UNC5C unc-5 netrin receptor C [Homo sapiens (human)] - Gene

Summary

Official Symbol: UNC5Cprovided by HGNC
Official Full Name: unc-5 netrin receptor Cprovided by HGNC
Primary source: HGNC:HGNC:12569
See related: Ensembl:ENSG00000182168 MIM:603610; AllianceGenome:HGNC:12569
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: UNC5H3
Summary: This gene product belongs to the UNC-5 family of netrin receptors. Netrins are secreted proteins that direct axon extension and cell migration during neural development. They are bifunctional proteins that act as attractants for some cell types and as repellents for others, and these opposite actions are thought to be mediated by two classes of receptors. The UNC-5 family of receptors mediate the repellent response to netrin; they are transmembrane proteins containing 2 immunoglobulin (Ig)-like domains and 2 type I thrombospondin motifs in the extracellular region. [provided by RefSeq, Jul 2008]
Expression: Broad expression in thyroid (RPKM 2.7), adrenal (RPKM 2.7) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4q22.3

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (95162504..95548973, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (98477165..98864110, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (96083655..96470124, complement)

Chromosome 4 - NC_000004.12 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
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?

UNC5C: Novel Gene Associated with Psychiatric Disorders Impacts Dysregulation of Axon Guidance Pathways.
Title: UNC5C: Novel Gene Associated with Psychiatric Disorders Impacts Dysregulation of Axon Guidance Pathways.
Identification and validation of HOXD3 and UNC5C as molecular signatures in keloid based on weighted gene co-expression network analysis.
Title: Identification and validation of HOXD3 and UNC5C as molecular signatures in keloid based on weighted gene co-expression network analysis.
A global integrated analysis of UNC5C down-regulation in cancers: insights from mechanism and combined treatment strategy.
Title: A global integrated analysis of UNC5C down-regulation in cancers: insights from mechanism and combined treatment strategy.
UNC5Cknockdown enhances the growth and metastasis of breast cancer cells by potentiating the integrin alpha6/beta4 signaling pathway.
Title: UNC5C‑knockdown enhances the growth and metastasis of breast cancer cells by potentiating the integrin α6/β4 signaling pathway.
An UNC5C Allele Predicts Cognitive Decline and Hippocampal Atrophy in Clinically Normal Older Adults.
Title: An UNC5C Allele Predicts Cognitive Decline and Hippocampal Atrophy in Clinically Normal Older Adults.
Promoter Hypermethylation of UNC5C Gene is associated with Colorectal Cancer.
Title: Significant Pattern of Promoter Hypermethylation of UNC5C Gene in Colorectal Cancer and Its Implication in Late Stage Disease.
The objective of this study is to investigate the influence of UNC5C loci on the neuroimaging of strategic regions of Alzheimer's disease.
Title: The Impact of UNC5C Genetic Variations on Neuroimaging in Alzheimer's Disease.
we identified ENC1 and UNC5C as genes with convergent genetic, epigenetic, and transcriptomic evidence supporting a potential role in the dissociation of cognition and neuropathology in an aging population.
Title: Identification of genes associated with dissociation of cognitive performance and neuropathological burden: Multistep analysis of genetic, epigenetic, and transcriptional data.
the results suggest that UNC5C methylation may be an earlier event in the development of colorectal cancer, which was negatively correlated with protein expression.
Title: Methylation of the UNC5C gene and its protein expression in colorectal cancer.
7 of these 8 variants do not cause increased colorectal cancer risk, including UNC5C c.1882_1883delinsAA (p.A628K).
Title: Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis.

Submit: New GeneRIF Correction See all GeneRIFs (33)

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 identifies ATOH7 as a major gene determining human optic disc size. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association reveals genetic effects on human A&#x003b2;42 and &#x003c4; protein levels in cerebrospinal fluids: a case control study. 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

BZ897709 (e-PCR)
- UniSTS:475395

RH103210 (e-PCR)
- UniSTS:97543

D4S470 (e-PCR)
- UniSTS:21000

G63348 (e-PCR)
- UniSTS:140314

STS-T51283 (e-PCR)
- UniSTS:73506

G33627 (e-PCR)
- UniSTS:42793

RH122143 (e-PCR)
- UniSTS:134703

UNC5C__5006 (e-PCR)
- UniSTS:462939

STS-N34287 (e-PCR)
- UniSTS:54627

RH123625 (e-PCR)
- UniSTS:136044

SHGC-24799 (e-PCR)
- UniSTS:64109

SHGC-67342 (e-PCR)
- UniSTS:93041

RH122417 (e-PCR)
- UniSTS:135287

SHGC-8648 (e-PCR)
- UniSTS:41349

RH93750 (e-PCR)
- UniSTS:90525

SHGC-51503 (e-PCR)
- UniSTS:9899

SHGC-83368 (e-PCR)
- UniSTS:101058

SHGC-83484 (e-PCR)
- UniSTS:103362

SHGC-50331 (e-PCR)
- UniSTS:74736

SHGC-19072 (e-PCR)
- UniSTS:74737

G35942 (e-PCR)
- UniSTS:46577

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables netrin receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables netrin receptor activity involved in chemorepulsion	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables tubulin binding	IPI Inferred from Physical Interaction 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 brain development	IEA Inferred from Electronic Annotation more info
involved_in chemorepulsion of axon	ISS Inferred from Sequence or Structural Similarity more info
involved_in dorsal root ganglion development	IDA Inferred from Direct Assay more info	PubMed
involved_in ectopic germ cell programmed cell death	IEA Inferred from Electronic Annotation more info
involved_in netrin-activated signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of developmental process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of reproductive process	IEA Inferred from Electronic Annotation more info
involved_in regulation of neuron migration	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cell surface	IEA Inferred from Electronic Annotation more info
located_in dendrite	IEA Inferred from Electronic Annotation more info
located_in filopodium	ISS Inferred from Sequence or Structural Similarity more info
located_in growth cone	ISS Inferred from Sequence or Structural Similarity more info
located_in lamellipodium	ISS Inferred from Sequence or Structural Similarity more info
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: netrin receptor UNC5C

Names: protein unc-5 homolog 3; protein unc-5 homolog C; unc-5 homolog 3; unc-5 homolog C; unc5 (C.elegans homolog) c

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_003728.4 → NP_003719.3 netrin receptor UNC5C precursor

See identical proteins and their annotated locations for NP_003719.3

Status: REVIEWED

Source sequence(s)

AC098584, AC105395, AC106881

Consensus CDS

CCDS3643.1

UniProtKB/Swiss-Prot

O95185, Q8IUT0

UniProtKB/TrEMBL

A8K385

Related

ENSP00000406022.1, ENST00000453304.6

Conserved Domains (5) summary

smart00218
Location:528 → 631

ZU5; Domain present in ZO-1 and Unc5-like netrin receptors

smart00209
Location:263 → 314

TSP1; Thrombospondin type 1 repeats

cd08799
Location:844 → 926

Death_UNC5C; Death domain found in Uncoordinated-5C

pfam17217
Location:678 → 817

UPA; UPA domain

cl11960
Location:171 → 257

Ig; Immunoglobulin domain

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_000004.12 Reference GRCh38.p14 Primary Assembly

Range

95162504..95548973 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005263321.4 → XP_005263378.1 netrin receptor UNC5C isoform X1

See identical proteins and their annotated locations for XP_005263378.1

UniProtKB/TrEMBL

A8K385

Conserved Domains (5) summary

smart00218
Location:547 → 650

ZU5; Domain present in ZO-1 and Unc5-like netrin receptors

smart00209
Location:263 → 314

TSP1; Thrombospondin type 1 repeats

pfam07679
Location:169 → 257

I-set; Immunoglobulin I-set domain

cd08799
Location:863 → 945

Death_UNC5C; Death domain found in Uncoordinated-5C

cl11960
Location:171 → 257

Ig; Immunoglobulin domain
XM_047416346.1 → XP_047272302.1 netrin receptor UNC5C isoform X2
XM_047416345.1 → XP_047272301.1 netrin receptor UNC5C isoform X2