Official Symbol

CECR2provided by HGNC

Official Full Name

cat eye syndrome chromosome region, candidate 2provided by HGNC

Primary Source

HGNC:1840

See related

Ensembl:ENSG00000099954; MIM:607576

Gene type

protein coding

RefSeq status

VALIDATED

Organism

Homo sapiens

Lineage

Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo

Also known as

KIAA1740; CECR2

Annotation Information

Annotation category: suggests misassembly

Annotation category: partial on reference assembly

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chromosome: 22; Location: 22q11.2See CECR2 in MapViewer

Preferred Names

cat eye syndrome chromosome region, candidate 2

Names

cat eye syndrome chromosome region, candidate 2

NP_113601.2

5` partial

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

1. NM_031413.3 → NP_113601.2  cat eye syndrome chromosome region, candidate 2

   Source sequence(s)

   ABBA01001449,AF336133,AK091754,AL832377

   UniProtKB/Swiss-Prot

   Q9BXF3

   Conserved Domains (1) summary

   cd05509
   Location:438 – 538
   Blast Score: 482

   Bromo_gcn5_like; Bromodomain; Gcn5_like subfamily. Gcn5p is a histone acetyltransferase (HAT) which mediates acetylation of histones at lysine residues; such acetylation is generally correlated with the activation of transcription. Bromodomains are 110 amino acid long...

RefSeqs of Annotated Genomes: Build 37.1

The following sections contain reference sequences that belong to a specific genome build. Explain

This section includes genomic Reference Sequences (RefSeqs) from all assemblies on which this gene is annotated, such as RefSeqs for chromosomes and scaffolds (contigs) from both reference and alternate assemblies. Model RNAs and proteins are also reported here.

Genome Reference Consortium Human Build 37 (GRCh37), Primary_Assembly

Genomic

1. NC_000022.10

   Range

   17956626..18033844

   Download

   GenBank FASTA Sequence Viewer (Graphics)

2. NT_011519.10 

   Range

   1108776..1185994

   Download

   GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (Celera)

Genomic

1. AC_000065.1

   Range

   1579041..1656269

   Download

   GenBank FASTA Sequence Viewer (Graphics)

2. NW_927406.1 

   Range

   912041..989269

   Download

   GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (HuRef)

Genomic

1. AC_000154.1

   Range

   1668589..1852277, complement

   Download

   GenBank FASTA Sequence Viewer (Graphics)

2. NW_001838735.2 

   Range

   628056..811744, complement

   Download

   GenBank FASTA Sequence Viewer (Graphics)