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ANKRD11

GENERAL INFORMATION

Gene name

 ANKRD11

Gene description

 Ankyrin repeat domain 11

Protein class

 Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 5
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 General nuclear and cytoplasmic expression.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Approved based on 1 antibody.
CAB019288
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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
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 ANKRD11 (HGNC Symbol)

Synonyms

 LZ16, T13

Description

 Ankyrin repeat domain 11 (HGNC Symbol)

Entrez gene summary

 This locus encodes an ankryin repeat domain-containing protein. The encoded protein inhibits ligand-dependent activation of transcription. Mutations in this gene have been associated with KBG syndrome, which is characterized by macrodontia, distinctive craniofacial features, short stature, skeletal anomalies, global developmental delay, seizures and intellectual disability. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 2 and X. [provided by RefSeq, Jan 2012]

Chromosome

 16

Cytoband

 q24.3

Chromosome location (bp)

 89267627 - 89490561

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000167522 (version 83.38)

Entrez gene

 29123

UniProt

 Q6UB99 (UniProt - Evidence at protein level)

neXtProt

 NX_Q6UB99

Antibodypedia

 ANKRD11 antibodies

PROTEIN BROWSER
ANKRD11-001
ANKRD11-009
ANKRD11-010
ANKRD11-014
ANKRD11-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
ANKRD11-001
ENSP00000301030
ENST00000301030
Q6UB99 [Direct mapping]
Ankyrin repeat domain-containing protein 11
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Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001701 [in utero embryonic development]
GO:0001894 [tissue homeostasis]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005886 [plasma membrane]
GO:0035264 [multicellular organism growth]
GO:0042475 [odontogenesis of dentin-containing tooth]
GO:0048705 [skeletal system morphogenesis]
GO:0060323 [head morphogenesis]
GO:0060325 [face morphogenesis]
GO:0060348 [bone development]
Show all
 2663 aa
297.9 kDa 		No 0
ANKRD11-009
ENSP00000455008
ENST00000563291
H3BNU4 [Direct mapping]
Ankyrin repeat domain-containing protein 11
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 124 aa
13.4 kDa 		No 0
ANKRD11-010
ENSP00000458043
ENST00000562194
H3BVB8 [Direct mapping]
Ankyrin repeat domain-containing protein 11
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
 206 aa
23.3 kDa 		No 0
ANKRD11-014
ENSP00000367581
ENST00000378330
Q6UB99 [Direct mapping]
Ankyrin repeat domain-containing protein 11
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005886 [plasma membrane]
GO:0042475 [odontogenesis of dentin-containing tooth]
GO:0048705 [skeletal system morphogenesis]
GO:0060325 [face morphogenesis]
Show all
 2663 aa
297.9 kDa 		No 0
ANKRD11-201
ENSP00000478018
ENST00000613312
A0A087WTN8 [Direct mapping]
Ankyrin repeat domain-containing protein 11
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
 366 aa
40.1 kDa 		No 0

Contact

The Project

The Human Protein Atlas

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