FAM149B1 (family with sequence similarity 149 member B1)

2014-11-01  

Identity

HGNC
LOCATION
10q22.2
LOCUSID
ALIAS
JBTS36,KIAA0974
FUSION GENES

Other Information

Locus ID:

NCBI: 317662
MIM: 618413
HGNC: 29162
Ensembl: ENSG00000138286

Variants:

dbSNP: 317662
ClinVar: 317662
TCGA: ENSG00000138286
COSMIC: FAM149B1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000138286ENST00000242505Q96BN6
ENSG00000138286ENST00000372955H7BY93
ENSG00000138286ENST00000445951H0Y607
ENSG00000138286ENST00000475829V9GYM5

Expression (GTEx)

0
5
10
15
20

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
356092102022BROMI/TBC1D32 together with CCRK/CDK20 and FAM149B1/JBTS36 contributes to intraflagellar transport turnaround involving ICK/CILK1.9
356092102022BROMI/TBC1D32 together with CCRK/CDK20 and FAM149B1/JBTS36 contributes to intraflagellar transport turnaround involving ICK/CILK1.9
348282542021Expanding the Phenotype of the FAM149B1-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family.2
348282542021Expanding the Phenotype of the FAM149B1-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family.2
309054002019Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans.17
309054002019Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans.17

Citation

Dessen P

FAM149B1 (family with sequence similarity 149 member B1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63035/fam149b1-(family-with-sequence-similarity-149-member-b1)