ANKS6 - ankyrin repeat and sterile alpha motif domain containing 6 Gene

Also Known as PKDR1; SAMD6; NPHP16; ANKRD14

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 203286

About ANKS6

Cytogenetic location: 9q22.33 Genomic coordinates (GRCh38): 9:98,732,009-98,796,555 (from NCBI)

This gene has 7 transcripts (splice variants), 199 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 4.5), kidney (RPKM 2.8) and 24 other tissues.

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]

ANKS6 Products (1)

mRNA	Protein	Name
NM_173551.5	NP_775822.3	ankyrin repeat and SAM domain-containing protein 6

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	24998259	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ANKS6 Protein Structure

Ank_2

SAM_1

0
200
400
600
800
871 a.a.

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

ANKS6 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ANKS6	Q68DC2	AGTRAP	Homo sapiens	Q6RW13-2	Validated Y2H	32296183
Intra	ANKS6	Q68DC2	AGTRAP	Homo sapiens	Q6RW13-2	Y2H Array	32296183
Intra	ANKS6	Q68DC2	AGTRAP	Homo sapiens	Q6RW13-2	Y2H Prey Pooling	32296183
Intra	ANKS6	Q68DC2	PITPNC1	Homo sapiens	Q9UKF7-2	Validated Y2H	32296183
Intra	ANKS6	Q68DC2	MARCHF5	Homo sapiens	Q9NX47	Validated Y2H	32296183
Intra	ANKS6	Q68DC2	TMEM60	Homo sapiens	Q9H2L4	Validated Y2H	32296183
Intra	ANKS6	Q68DC2	BCL2L2	Homo sapiens	Q92843	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Nephronophthisis 16	NPHP16 Nephronophthisis, Type 16
Infantile Nephronophthisis	Autosomal Recessive Infantile Nphp Autosomal Recessive Infantile Nephronophthisis Nephronophthisis 2
Juvenile Nephronophthisis	Nephronophthisis Nephronophthisis, Familial Juvenile
Interstitial Nephritis	Nephritis, Interstitial Renal Tubulo-Interstitial Disease Nephritis Interstitial Nephritis, Tubulointerstitial
Nephronophthisis	Medullary Cystic Disease Medullary Cystic Kidney Nph Nphp Kidney Disease, Cystic, Medullary
Nephronophthisis 9	NPHP9 Nephronophthisis, Type 9
Nephronophthisis 11	NPHP11 Nephronophthisis, Type 11
Situs Inversus	Situs Inversus Viscerum Laterality Sequence Complete Transposition Siv
Nephrotic Syndrome, Type 21	NPHS21 Nephrotic Syndrome Type 21 Nephrotic Syndrome 21
Nephronophthisis 18	NPHP18 Nephronophthisis, Type 18
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Autosomal Recessive Polycystic Kidney Disease Arpkd Polycystic Kidney Disease, Autosomal Recessive Polycystic Kidney And Hepatic Disease 1 Pkhd1 PKD4 Polycystic Kidney Disease 4 With Or Without Hepatic Disease Polycystic Kidney Disease, Infantile, Type I Polycystic Kidney Disease, Infantile Type Polycystic Kidney, Autosomal Recessive Pkd3, Formerly Polycystic Kidney Disease 4, With Or Without Hepatic Disease Arpkd/Chf Ar-Pkd Polycystic Kidney Disease 4, With Or Without Polycystic Liver Disease Infantile Polycystic Kidney Disease Type I Pkd3 Kidney, Polycystic, Disease, Type 4, With/Without Hepatic Disease Polycystic Kidney Disease 3, Autosomal Dominant
Cystic Kidney Disease	Renal Cyst Simple Renal Cyst Kidney Cysts Kidney Diseases, Cystic Renal Cysts Kidney Cyst Cystic Kidney Congenital Cystic Kidney Disease Cystic Kidney Diseases Bosniak 1 Cyst
Autosomal Dominant Polycystic Kidney Disease	Polycystic Kidney Disease, Adult Type Adpkd Polycystic Kidney Diseases Polycystic Kidney, Autosomal Dominant Congenital Biliary Ectasias Polycystic Kidney And Hepatic Disease 1 Polycystic Kidney Disease, Autosomal Dominant Kidney, Polycystic, Disease, Autosomal Dominant Adult Polycystic Kidney Disease Polycystic Kidney, Adult Type Apckd - [Autosomal Polycystic Kidney Disease]
Polycystic Kidney Disease	Polycystic Kidney Diseases Pkd Polycystic Renal Disease Kidney Disease, Polycystic Polycystic Kidney, Autosomal Dominant
Visceral Heterotaxy	Situs Ambiguus Heterotaxia Heterotaxy Syndrome Heterotaxy Lateralization Defect Situs Ambiguous Left Isomerism Htx Ivemark Syndrome Right Isomerism Situs Ambiguus Viscerum Incomplete Situs Inversus Partial Situs Inversus Heterotaxy, Visceral Asplenia Syndrome Bilateral Left-Sidedness Polysplenia Syndrome Moller Syndrome
Joubert Syndrome 1	Joubert Syndrome Jbts Cerebellooculorenal Syndrome 1 JBTS1 Joubert-Boltshauser Syndrome Cerebelloparenchymal Disorder Iv Cpd4 Cors1 Joubert Syndrome And Related Disorders Jsrd Familial Aplasia Of The Vermis Joubert Syndrome Related Disorders Js Cerebellar Vermis Agenesis Cerebelloparenchymal Disorder 4 Agenesis Of Cerebellar Vermis Cerebello-Oculo-Renal Syndrome Cors Joubert-Bolthauser Syndrome Cpd Iv Classic Joubert Syndrome Joubert Syndrome Type A Pure Joubert Syndrome Cerebello-Oculo-Renal Syndrome 1 Joubert Syndrome-1 Joubert Syndrome, Type 1 Joubert'S Syndrome
Primary Ciliary Dyskinesia	Immotile Cilia Syndrome Kartagener Syndrome Dextrocardia Bronchiectasis And Sinusitis Pcd Ciliary Motility Disorders Ciliary Motility Disorder Immotile Ciliary Syndrome Ciliary Dyskinesia Primary Ics Polynesian Bronchiectasis Dextrocardia-Bronchiectasis-Sinusitis Syndrome Immotile Cilia Syndrome, Kartagener Type Primary Ciliary Dyskinesia And Situs Inversus Primary Ciliary Dyskinesia, Kartagener Type Siewert Syndrome Dyskinesia, Ciliary, Primary
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00737	ANKS6 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	ANKS6	VGNC	VGNC:37920
Bos taurus	ANKS6	VGNC	VGNC:25947
Mus musculus	ANKS6	MGD	MGI:1922941
Felis catus	ANKS6	VGNC	VGNC:59823
Macaca mulatta	ANKS6	VGNC	VGNC:103239
Rattus norvegicus	ANKS6	RGD	RGD:3334
Others	ANKS6	NCBI