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Gene: MKKS (McKusick-Kaufman syndrome) Homo sapiens
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Symbol: MKKS
Name: McKusick-Kaufman syndrome
Description: Exhibits RNA polymerase II repressing transcription factor binding activity. Involved in cilium assembly. Localizes to centrosome; cytoplasm; and nucleus. Implicated in Bardet-Biedl syndrome; Bardet-Biedl syndrome 6; McKusick-Kaufman syndrome; congenital heart disease; and obesity.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: bardet-Biedl syndrome 6 protein; BBS6; HMCS; KMS; McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin; MKS
Orthologs:
Mus musculus (house mouse) : Mkks (McKusick-Kaufman syndrome)  MGI  Alliance
Rattus norvegicus (Norway rat) : Mkks (McKusick-Kaufman syndrome)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Mkks (McKusick-Kaufman syndrome)
Pan paniscus (bonobo/pygmy chimpanzee) : MKKS (McKusick-Kaufman syndrome)
Canis lupus familiaris (dog) : MKKS (McKusick-Kaufman syndrome)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Mkks (McKusick-Kaufman syndrome)
Sus scrofa (pig) : MKKS (McKusick-Kaufman syndrome)
Chlorocebus sabaeus (African green monkey) : MKKS (McKusick-Kaufman syndrome)
Heterocephalus glaber (naked mole-rat) : Mkks (McKusick-Kaufman syndrome)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl2010,401,009 - 10,434,222 (-)EnsemblGRCh38hg38GRCh38
GRCh38 Ensembl2010,420,546 - 10,420,737 (-)EnsemblGRCh38hg38GRCh38
GRCh382010,401,009 - 10,434,222 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372010,385,428 - 10,414,887 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362010,333,832 - 10,362,866 (-)NCBINCBI36hg18NCBI36
Build 342010,333,832 - 10,362,866NCBI
Celera2010,455,827 - 10,484,860 (-)NCBI
Cytogenetic Map20p12.2NCBI
HuRef2010,337,201 - 10,366,656 (-)NCBIHuRef
CHM1_12010,385,992 - 10,415,443 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on MKKS
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1318801
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2020-04-28
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.