CLIP2 CAP-Gly domain containing linker protein 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CLIP2provided by HGNC
Official Full Name: CAP-Gly domain containing linker protein 2provided by HGNC
Primary source: HGNC:HGNC:2586
See related: Ensembl:ENSG00000106665 MIM:603432; AllianceGenome:HGNC:2586
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: CLIP; CYLN2; WSCR3; WSCR4; WBSCR3; WBSCR4; CLIP-115
Summary: The protein encoded by this gene belongs to the family of cytoplasmic linker proteins, which have been proposed to mediate the interaction between specific membranous organelles and microtubules. This protein was found to associate with both microtubules and an organelle called the dendritic lamellar body. This gene is hemizygously deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in brain (RPKM 29.5), colon (RPKM 11.1) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q11.23

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (74289407..74405935)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (75491680..75608201)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (73703737..73820265)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

Clinical, pathologic, and genomic characteristics of two pediatric glioneuronal tumors with a CLIP2::MET fusion.
Title: Clinical, pathologic, and genomic characteristics of two pediatric glioneuronal tumors with a CLIP2::MET fusion.
Whole exome sequencing identifies three novel gene mutations in patients with the triad of diabetic ketoacidosis, hypertriglyceridemia, and acute pancreatitis.
Title: Whole exome sequencing identifies three novel gene mutations in patients with the triad of diabetic ketoacidosis, hypertriglyceridemia, and acute pancreatitis.
CILP-2 is a novel secreted protein and demonstrated that circulating CILP-2 levels were elevated in both IGT and nT2DM subjects and associated with IR. CILP-2 overexpression promoted hepatic IR in HFD-fed mice, increased PEPCK expression and suppressed insulin signaling in hepatocytes.
Title: CILP-2 is a novel secreted protein and associated with insulin resistance.
Cross checking with epidemiological estimates and model validation suggests that CLIP2 is a marker of high precision. CLIP2 leaves an imprint in the epidemiological incidence data which is typical for a driver gene.
Title: Integration of a radiation biomarker into modeling of thyroid carcinogenesis and post-Chernobyl risk assessment.
CLIP2 protein expression is elevated in papillary thyroid carcinomas from patients exposed to radioiodine fallout compared with a nonexposed control group.
Title: CLIP2 as radiation biomarker in papillary thyroid carcinoma.
A clear radiation dose-response relationship for the CLIP2 marker expression in post-Chernobyl papillary thyroid carcinomas
Title: Dose-dependent expression of CLIP2 in post-Chernobyl papillary thyroid carcinomas.
CLIP2 haploinsufficiency by itself does not lead to the physical or cognitive characteristics of the Williams-Beuren syndrome; GTF2IRD1 and GTF2I are the main genes causing the cognitive defects
Title: The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome.
Data show that gene CLIP2 was specifically overexpressed in the exposed cases.
Title: Gain of chromosome band 7q11 in papillary thyroid carcinomas of young patients is associated with exposure to low-dose irradiation.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

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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

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

GDB:4584934 (e-PCR)
- UniSTS:33322

G54134 (e-PCR)
- UniSTS:109371

GDB:1318204 (e-PCR)
- UniSTS:44148

GDB:1317824 (e-PCR)
- UniSTS:79765

GDB:1317584 (e-PCR)
- UniSTS:46555

D7S3282 (e-PCR)
- UniSTS:254181

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables microtubule binding	ISS Inferred from Sequence or Structural Similarity more info
enables microtubule plus-end binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in cytoplasmic microtubule organization	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cell cortex	IBA Inferred from Biological aspect of Ancestor more info
part_of microtubule associated complex	TAS Traceable Author Statement more info	PubMed
is_active_in microtubule plus-end	IBA Inferred from Biological aspect of Ancestor more info
located_in microtubule plus-end	ISS Inferred from Sequence or Structural Similarity more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: CAP-Gly domain-containing linker protein 2

Names: Williams-Beuren syndrome chromosome region 3; Williams-Beuren syndrome chromosome region 4; cytoplasmic linker 2; cytoplasmic linker protein 115; cytoplasmic linker protein 2; testicular tissue protein Li 40; williams-Beuren syndrome chromosomal region 3 protein; williams-Beuren syndrome chromosomal region 4 protein

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_011830.2 RefSeqGene

Range

5002..121530

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_003388.5 → NP_003379.4 CAP-Gly domain-containing linker protein 2 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AC005015

Consensus CDS

CCDS5569.1

UniProtKB/Swiss-Prot

O14527, O43611, Q9UDT6

UniProtKB/TrEMBL

A0A140VJG6

Related

ENSP00000223398.6, ENST00000223398.11

Conserved Domains (2) summary

COG1196
Location:357 → 971

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

pfam01302
Location:221 → 285

CAP_GLY; CAP-Gly domain
NM_032421.3 → NP_115797.2 CAP-Gly domain-containing linker protein 2 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an exon within the coding region, as compared to variant 1. Isoform 2 encoded by this variant is thus missing an internal aa fragment as compared to isoform 1.

Source sequence(s)

AC005015

Consensus CDS

CCDS5570.1

UniProtKB/TrEMBL

A7E2F7

Related

ENSP00000355151.5, ENST00000361545.9

Conserved Domains (2) summary

TIGR02168
Location:357 → 975

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam01302
Location:221 → 285

CAP_GLY; CAP-Gly domain