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Gene: B9D1 (B9 domain containing 1) Homo sapiens
Symbol: B9D1
Name: B9 domain containing 1
RGD ID: 1602004
Description: Predicted to have hedgehog receptor activity. Predicted to be involved in cilium assembly and smoothened signaling pathway. Localizes to centrosome and ciliary basal body. Implicated in Joubert syndrome 27 and Meckel syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: B9; B9 domain-containing protein 1; B9 protein domain 1; endothelial precursor protein B9; EPPB9; JBTS27; MKS1-related protein 1; MKS9; MKSR-1; MKSR1
Mus musculus (house mouse) : B9d1 (B9 protein domain 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : B9d1 (B9 domain containing 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : B9d1 (B9 domain containing 1)
Pan paniscus (bonobo/pygmy chimpanzee) : B9D1 (B9 domain containing 1)
Canis lupus familiaris (dog) : B9D1 (B9 domain containing 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : B9d1 (B9 domain containing 1)
Sus scrofa (pig) : B9D1 (B9 domain containing 1)
Chlorocebus sabaeus (African green monkey) : B9D1 (B9 domain containing 1)
Heterocephalus glaber (naked mole-rat) : B9d1 (B9 domain containing 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38.p13 Ensembl1719,334,308 - 19,378,193 (-)EnsemblGRCh38hg38GRCh38
GRCh381719,334,695 - 19,377,913 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371719,240,563 - 19,281,495 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361719,187,076 - 19,206,639 (-)NCBINCBI36hg18NCBI36
Celera1716,659,306 - 16,678,871 (-)NCBI
Cytogenetic Map17p11.2NCBI
HuRef1718,620,628 - 18,661,063 (-)NCBIHuRef
CHM1_11719,247,434 - 19,290,254 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

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


Comparative Map Data
Position Markers
miRNA Target Status


RNA-SEQ Expression


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on B9D1
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1602004
Created: 2007-04-27
Species: Homo sapiens
Last Modified: 2020-09-16
Status: ACTIVE


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