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

Gene ID: 148113, updated on 12-Aug-2018

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; Vega:OTTHUMG00000182148
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
Expression
Biased expression in testis (RPKM 2.1), gall bladder (RPKM 1.1) and 8 other tissues See more
Orthologs

Genomic context

See CILP2 in Genome Data Viewer
Location:
19p13.11
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (19538265..19546659)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (19649057..19657468)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene NADH:ubiquinone oxidoreductase subunit A13 Neighboring gene YjeF N-terminal domain containing 3 Neighboring gene PBX homeobox 4 Neighboring gene PHD finger protein 5C pseudogene Neighboring gene lysophosphatidic acid receptor 2

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC45771

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NOT alkaline phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
NOT nucleotide diphosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 

General protein information

Preferred Names
cartilage intermediate layer protein 2
Names
CILP-2
cartilage intermediate layer protein-like protein 2

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_153221.2NP_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
    Q8IUL8
    Related
    ENSP00000291495.3, OTTHUMP00000268533, ENST00000291495.5, OTTHUMT00000459738
    Conserved Domains (7) summary
    smart00408
    Location:306366
    IGc2; Immunoglobulin C-2 Type
    smart00209
    Location:149197
    TSP1; Thrombospondin type 1 repeats
    pfam07679
    Location:292377
    I-set; Immunoglobulin I-set domain
    pfam13330
    Location:58143
    Mucin2_WxxW; Mucin-2 protein WxxW repeating region
    pfam13620
    Location:213286
    CarboxypepD_reg; Carboxypeptidase regulatory-like domain
    pfam13715
    Location:475526
    CarbopepD_reg_2; CarboxypepD_reg-like domain
    cl21545
    Location:412466
    GHB_like; Glycoprotein hormone beta chain homologues

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    19538265..19546659
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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