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

Cytoband

q24.3

Chromosome location (bp)

89267627 - 89490561

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000167522 (version 78.38)

Entrez gene

29123

UniProt

Q6UB99 (UniProt - Evidence at protein level)

neXtProt

NX_Q6UB99

Antibodypedia

ANKRD11 antibodies
 

PROTEIN VIEW

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ANKRD11-001
 
ANKRD11-009
 
ANKRD11-010
 
ANKRD11-014
 
ANKRD11-201
 
 
 
 
 

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
Show all »
Show » Show » 2663 297.9 No 0
ANKRD11-009 ENSP00000455008
ENST00000563291
H3BNU4
Show all »
Show » 124 13.4 No 0
ANKRD11-010 ENSP00000458043
ENST00000562194
Show » Show » 206 23.3 No 0
ANKRD11-014 ENSP00000367581
ENST00000378330
Q6UB99
Show all »
Show » Show » 2663 297.9 No 0
ANKRD11-201 ENSP00000478018
ENST00000613312
Show » Show » 366 40.1 No 0