ANKRD11

GENE INFORMATION

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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 (Chromosome progress)

Cytoband

q24.3

Chromosome location (bp)

89334038 - 89556969

Ensembl

ENSG00000167522 (version 73.37)

Entrez gene

29123

UniProt

Q6UB99 (UniProt - Evidence at protein level)

neXtProt

NX_Q6UB99

Antibodypedia

ANKRD11 antibodies
 

PROTEIN VIEW

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ANKRD11-001
 
ANKRD11-003
 
ANKRD11-004
 
ANKRD11-009
 
ANKRD11-010
 
ANKRD11-011
 
ANKRD11-014
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ANKRD11-001 ENSP00000301030
ENST00000301030
Q6UB99
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Show » 2663 297.9 No 0
ANKRD11-003 ENSP00000454550
ENST00000562275
H0Y2U4
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97 10.5 No 0
ANKRD11-004 ENSP00000367583
ENST00000378332
H0Y3E3
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35 3.8 No 0
ANKRD11-009 ENSP00000455008
ENST00000563291
H3BNU4
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124 13.4 No 0
ANKRD11-010 ENSP00000458043
ENST00000562194
Show » 206 23.3 No 0
ANKRD11-011 ENSP00000330815
ENST00000330736
H0Y2U4
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97 10.5 No 0
ANKRD11-014 ENSP00000367581
ENST00000378330
Q6UB99
Show all »
Show » 2663 297.9 No 0