ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ANKS6provided by HGNC
Official Full Name: ankyrin repeat and sterile alpha motif domain containing 6provided by HGNC
Primary source: HGNC:HGNC:26724
See related: Ensembl:ENSG00000165138 MIM:615370; AllianceGenome:HGNC:26724
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: PKDR1; SAMD6; NPHP16; ANKRD14
Summary: This gene encodes a protein containing multiple ankyrin repeats and a SAM domain. It is thought that this protein may localize to the proximal region of the primary cilium, and may play a role in renal and cardiovascular development. Mutations in this gene have been shown to cause a form of nephronophthisis (NPHP16), a chronic tubulo-interstitial nephritis. [provided by RefSeq, Jul 2015]
Expression: Ubiquitous expression in thyroid (RPKM 4.5), kidney (RPKM 2.8) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q22.33

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (98732009..98796555, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (110903669..110968205, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (101494291..101558837, complement)

Chromosome 9 - NC_000009.12 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
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?

Biallelic ANKS6 mutations cause late-onset ciliopathy with chronic kidney disease through YAP dysregulation.
Title: Biallelic ANKS6 mutations cause late-onset ciliopathy with chronic kidney disease through YAP dysregulation.
Study finds that ANKS3-SAM polymerizes and ANKS6-SAM can bind to one end of the polymer; study presents crystal structures of both the ANKS3-SAM polymer and the ANKS3-SAM/ANKS6-SAM complex, revealing the molecular details of their association.
Title: Characterization of the SAM domain of the PKD-related protein ANKS6 and its interaction with ANKS3.
Data indicate the importance of ANKS6 in human kidney development and suggest a mechanism by which mutations in ANKS6 may contribute to an nephronophthisis-like phenotype in chronic kidney disease.
Title: Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRD.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts.
Location, sequence and structure of the gene encoding human SamCystin have been determined.
Title: Genomic organization and mutation screening of the human ortholog of Pkdr1 associated with polycystic kidney disease in the rat.

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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

Associated conditions

Description	Tests
Nephronophthisis 16 MedGen: C3809320 OMIM: 615382 GeneReviews: Nephronophthisis-Related Ciliopathies	not available

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

SHGC-4650 (e-PCR)
- UniSTS:32083

RH15962 (e-PCR)
- UniSTS:76425

AB046634 (e-PCR)
- UniSTS:480154

D9S2093 (e-PCR)
- UniSTS:55202

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in determination of left/right symmetry	IEA Inferred from Electronic Annotation more info
involved_in heart development	IEA Inferred from Electronic Annotation more info
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
involved_in kidney development	IEA Inferred from Electronic Annotation more info

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

General protein information

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Preferred Names: ankyrin repeat and SAM domain-containing protein 6

Names: SAM domain-containing protein 6; ankyrin repeat domain 14; samCystin

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_042237.1 RefSeqGene

Range

4988..69534

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_173551.5 → NP_775822.3 ankyrin repeat and SAM domain-containing protein 6

See identical proteins and their annotated locations for NP_775822.3

Status: REVIEWED

Source sequence(s)

AK074328, AK127702, AL807776, BC012981, BC064367, BM552108, BX462630, BY994327, CR749472

Consensus CDS

CCDS43856.1

UniProtKB/Swiss-Prot

A0SE62, Q5VSL0, Q5VSL2, Q5VSL3, Q5VSL4, Q68DB8, Q68DC2, Q6P2R2, Q8N9L6, Q96D62

Related

ENSP00000297837.6, ENST00000353234.5

Conserved Domains (6) summary

cd09518
Location:771 → 835

SAM_ANKS6; SAM domain of ANKS6 (or SamCystin) subfamily

smart00454
Location:774 → 833

SAM; Sterile alpha motif

cd00204
Location:72 → 211

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:115 → 218

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:193 → 245

Ank_4; Ankyrin repeats (many copies)

sd00045
Location:78 → 108

ANK; ANK repeat [structural motif]