CILP2 cartilage intermediate layer protein 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CILP2provided by HGNC
Official Full Name: cartilage intermediate layer protein 2provided by HGNC
Primary source: HGNC:HGNC:24213
See related: Ensembl:ENSG00000160161 MIM:612419; AllianceGenome:HGNC:24213
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: CLIP-2
Summary: Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in testis (RPKM 2.1), gall bladder (RPKM 1.1) and 8 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.11

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (19538265..19546659)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (19675753..19684147)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (19649074..19657468)

Chromosome 19 - NC_000019.10 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?

Expression of CILP-2 and DDR2 and ultrastructural changes in the articular cartilage of patients with knee osteoarthritis undergoing total knee arthroplasty: a pilot morphological study.
Title: Expression of CILP-2 and DDR2 and ultrastructural changes in the articular cartilage of patients with knee osteoarthritis undergoing total knee arthroplasty: a pilot morphological study.
Circulating Levels of CILP2 Are Elevated in Coronary Heart Disease and Associated with Atherosclerosis.
Title: Circulating Levels of CILP2 Are Elevated in Coronary Heart Disease and Associated with Atherosclerosis.
This study aims to analyze the influences of single-nucleotide polymorphism in the NCAN-CILP2 region on non-alcoholic fatty liver disease and plasma lipid levels in the Asian and Pacific ethnic groups.
Title: Replication analysis of genetic association of the NCAN-CILP2 region with plasma lipid levels and non-alcoholic fatty liver disease in Asian and Pacific ethnic groups.
The minor T allele of CILP2 gene and I allele of ACE gene have a protective effect.
Title: Association of CILP2 and ACE gene polymorphisms with cardiovascular risk factors in Slovak midlife women.
Sex (male)-specific association of rs16996148 SNP in the NCAN/CILP2/PBX4 and serum lipid levels is observed both the Mulao and Han ethnic groups.
Title: Sex-specific association of rs16996148 SNP in the NCAN/CILP2/PBX4 and serum lipid levels in the Mulao and Han populations.
Cartilage intermediate layer protein 2 (CILP-2) is expressed in articular and meniscal cartilage and down-regulated in experimental osteoarthritis.
Title: Cartilage intermediate layer protein 2 (CILP-2) is expressed in articular and meniscal cartilage and down-regulated in experimental osteoarthritis.
Data show no differences in triglyceride or total cholesterol levels in relation to any allelic variants of ANGPTL3, CILP2, or TRIB1 SNPs.
Title: Triglyceride level-influencing functional variants of the ANGPTL3, CILP2, and TRIB1 loci in ischemic stroke.
Observational study of gene-disease association. (HuGE Navigator)
Title: Pharmacogenetic analysis of lipid responses to rosuvastatin in Chinese patients.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.

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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
Biological insights from 108 schizophrenia-associated genetic loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Biological, clinical and population relevance of 95 loci for blood lipids. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variants at 30 loci contribute to polygenic dyslipidemia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Discovery and refinement of loci associated with lipid levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants influencing circulating lipid levels and risk of coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis identifies 13 new risk loci for schizophrenia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Newly identified loci that influence lipid concentrations and risk of coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. 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

MARC_16334-16335:1017683498:1 (e-PCR)
- UniSTS:268004

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
NOT enables alkaline phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
NOT enables dinucleotide phosphatase activity	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: cartilage intermediate layer protein 2

Names: CILP-2; cartilage intermediate layer protein-like protein 2

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_153221.2 → NP_694953.2 cartilage intermediate layer protein 2 precursor

See identical proteins and their annotated locations for NP_694953.2

Status: VALIDATED

Source sequence(s)

AF542080, BC018939, DA328640

Consensus CDS

CCDS12405.1

UniProtKB/Swiss-Prot

Q6NV88, Q8IUL8, Q8N4A6, Q8WV21

UniProtKB/TrEMBL

B2RAJ0

Related

ENSP00000291495.3, ENST00000291495.5

Conserved Domains (7) summary

smart00408
Location:306 → 366

IGc2; Immunoglobulin C-2 Type

smart00209
Location:149 → 197

TSP1; Thrombospondin type 1 repeats

pfam07679
Location:292 → 377

I-set; Immunoglobulin I-set domain

pfam13330
Location:58 → 143

Mucin2_WxxW; Mucin-2 protein WxxW repeating region

pfam13620
Location:213 → 286

CarboxypepD_reg; Carboxypeptidase regulatory-like domain

pfam13715
Location:475 → 526

CarbopepD_reg_2; CarboxypepD_reg-like domain

cl21545
Location:412 → 466

GHB_like; Glycoprotein hormone beta chain homologues