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ANKS6

GENERAL INFORMATION

Gene name

 ANKS6

Gene description

 Ankyrin repeat and sterile alpha motif domain containing 6

Protein class

 Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 3
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Mixed
GTEx:Expressed in all
FANTOM5:Tissue enhanced (cerebellum)

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in most tissues.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data. Pending external verification.

Reliability score

 Approved based on 1 antibody.
HPA008355
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Thyroid gland

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (cerebellum)

GENE INFORMATION

Gene name

 ANKS6 (HGNC Symbol)

Synonyms

 ANKRD14, FLJ36928, NPHP16, SAMD6

Description

 Ankyrin repeat and sterile alpha motif domain containing 6 (HGNC Symbol)

Entrez gene 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]

Chromosome

 9

Cytoband

 q22.33

Chromosome location (bp)

 98731329 - 98796965

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000165138 (version 83.38)

Entrez gene

 203286

UniProt

 Q68DC2 (UniProt - Evidence at protein level)

neXtProt

 NX_Q68DC2

Antibodypedia

 ANKS6 antibodies

PROTEIN BROWSER
ANKS6-001
ANKS6-002
ANKS6-006

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
ANKS6-001
ENSP00000398648
ENST00000444472
H7C163 [Direct mapping]
Ankyrin repeat and SAM domain-containing protein 6
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   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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GO:0005515 [protein binding]
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 341 aa
35.4 kDa 		No 0
ANKS6-002
ENSP00000364159
ENST00000375019
A0A0A0MRS7 [Direct mapping]
Ankyrin repeat and SAM domain-containing protein 6
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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GO:0005515 [protein binding]
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 584 aa
62.3 kDa 		No 0
ANKS6-006
ENSP00000297837
ENST00000353234
Q68DC2 [Direct mapping]
Ankyrin repeat and SAM domain-containing protein 6
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Predicted intracellular proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
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GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005929 [cilium]
GO:0007368 [determination of left/right symmetry]
GO:0007507 [heart development]
Show all
 871 aa
92.2 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.