INVS inversin [Homo sapiens (human)] - Gene

Summary

Official Symbol: INVSprovided by HGNC
Official Full Name: inversinprovided by HGNC
Primary source: HGNC:HGNC:17870
See related: Ensembl:ENSG00000119509 MIM:243305; AllianceGenome:HGNC:17870
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: INV; NPH2; NPHP2
Summary: This gene encodes a protein containing multiple ankyrin domains and two IQ calmodulin-binding domains. The encoded protein may function in renal tubular development and function, and in left-right axis determination. This protein interacts with nephrocystin and infers a connection between primary cilia function and left-right axis determination. A similar protein in mice interacts with calmodulin. Mutations in this gene have been associated with nephronophthisis type 2. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2012]
Expression: Ubiquitous expression in ovary (RPKM 5.9), kidney (RPKM 5.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q31.1

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (100099243..100302175)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (112270863..112473811)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (102861525..103064457)

Chromosome 9 - NC_000009.12 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?

Novel fibrillar structure in the inversin compartment of primary cilia revealed by 3D single-molecule superresolution microscopy.
Title: Novel fibrillar structure in the inversin compartment of primary cilia revealed by 3D single-molecule superresolution microscopy.
fetus diagnosed with type II nephronophthisis had a heterozygous c.100+1G>A variant and deletion of exon 3 of the INVS gene
Title: [Ultrasonographic manifestation and genetic analysis of a fetus with nephronophthisis type 2].
Inversin required for ciliary translocation of Smo and activation of the Shh pathway; Shh signaling promotes inversin phosphorylation by PKA and inversin-Smo interaction
Title: Patched1-ArhGAP36-PKA-Inversin axis determines the ciliary translocation of Smoothened for Sonic Hedgehog pathway activation.
Collectively, these results indicated that inversin might promote the tumorigenicity of lung cancer cells and serve as a novel therapeutic target of non-small cell lung cancer.
Title: Inversin correlates with the malignant phenotype of non-small cell lung cancer and promotes the invasiveness of lung cancer cells.
Akt phosphorylates inversin at amino acids 864-866 that are required not only for Akt interaction, but also for inversin dimerization.
Title: Phosphorylation-dependent Akt-Inversin interaction at the basal body of primary cilia.
Truncating mutations in NPHP2 gene is associated with nephronophthisis-related ciliopathy.
Title: Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
ANKS6 as a new NPHP family member that assembles a distinct module of nephronophthisis-associated proteins, encompassing NEK8, INVS and NPHP3.
Title: ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3.
INVS mutation can cause juvenile nephronophthisis with abnormal reactivity of the Wnt/beta-catenin pathway.
Title: A homozygous mutation in INVS causing juvenile nephronophthisis with abnormal reactivity of the Wnt/beta-catenin pathway.
Observational study of gene-disease association. (HuGE Navigator)
Title: Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
screened 43 families with infantile nephronophthisis (ESRD less than 5 years of age) for NPHP2 and NPHP3 mutations and determined genotype-phenotype correlations
Title: Mutations of NPHP2 and NPHP3 in infantile nephronophthisis.

Submit: New GeneRIF Correction See all GeneRIFs (15)

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
Infantile nephronophthisis MedGen: C1865872 OMIM: 602088 GeneReviews: Nephronophthisis-Related Ciliopathies	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort. 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

D9S2039 (e-PCR)
- UniSTS:38699

A008U06 (e-PCR)
- UniSTS:10067

D9S788 (e-PCR)
- UniSTS:30560

SHGC-18202 (e-PCR)
- UniSTS:70499

D9S998E (e-PCR)
- UniSTS:151245

RH93259 (e-PCR)
- UniSTS:90598

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calmodulin binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of canonical Wnt signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in protein localization to ciliary inversin compartment	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in ciliary inversin compartment	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in microtubule	IEA Inferred from Electronic Annotation more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in spindle	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: inversin

Names: inversion of embryo turning homolog; inversion of embryonic turning; nephrocystin-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.

Genomic

NG_008316.1 RefSeqGene

Range

5015..207947

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001318381.2 → NP_001305310.1 inversin isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (4) contains an alternate exon in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (c) is shorter than isoform a.

Source sequence(s)

AL445214, BC063847, BC112351, DB217652

UniProtKB/TrEMBL

B4E3S8

Conserved Domains (4) summary

cd00204
Location:288 → 413

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam12796
Location:331 → 421

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:89 → 144

Ank_4; Ankyrin repeats (many copies)

sd00045
Location:260 → 291

ANK; ANK repeat [structural motif]
NM_001318382.2 → NP_001305311.1 inversin isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (5) uses an alternate splice site in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (d) is shorter than isoform a.

Source sequence(s)

AK312795, AL445214, BC063847, DB217652

Conserved Domains (6) summary

cd00204
Location:58 → 183

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam00023
Location:30 → 61

Ank; Ankyrin repeat

pfam05750
Location:364 → 520

Rubella_Capsid; Rubella capsid protein

pfam12796
Location:101 → 191

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:1 → 51

Ank_4; Ankyrin repeats (many copies)

sd00045
Location:30 → 61

ANK; ANK repeat [structural motif]
NM_014425.5 → NP_055240.2 inversin isoform a

See identical proteins and their annotated locations for NP_055240.2

Status: REVIEWED

Description

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

Source sequence(s)

AL356798, AL445214, BC063847, BC111761, DB217652

Consensus CDS

CCDS6746.1

UniProtKB/Swiss-Prot

A2A2Y2, Q2NKL0, Q5W0T6, Q8IVX8, Q9BRB9, Q9Y283, Q9Y488, Q9Y498

UniProtKB/TrEMBL

B4E3S8

Related

ENSP00000262457.2, ENST00000262457.7

Conserved Domains (4) summary

cd00204
Location:384 → 509

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam12796
Location:427 → 517

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:185 → 240

Ank_4; Ankyrin repeats (many copies)

sd00045
Location:356 → 387

ANK; ANK repeat [structural motif]

RNA

NR_134606.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (6) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AL445214, BC063847, BC112351, DB217652

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_000009.12 Reference GRCh38.p14 Primary Assembly

Range

100099243..100302175

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060933.1 Alternate T2T-CHM13v2.0

Range

112270863..112473811

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_183245.2: Suppressed sequence

Description

NM_183245.2: This RefSeq was removed because currently there is insufficient support for the transcript.