FAM149B1 (family with sequence similarity 149 member B1)

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Gene Gene information from NCBI Gene database.
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Entrez ID 317662
Gene name Family with sequence similarity 149 member B1
Gene symbol FAM149B1
Synonyms (NCBI Gene)
JBTS36KIAA0974
Chromosome 10
Chromosome location 10q22.2
SNPs SNP information provided by dbSNP.
2
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SNP ID Visualize variation Clinical significance Consequence
rs1259897171 C>T Pathogenic Non coding transcript variant, stop gained, 5 prime UTR variant, coding sequence variant
rs1589150410 AG>- Pathogenic 5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
40 Show/Hide all (40)
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miRTarBase ID miRNA Experiments Reference
MIRT980831 hsa-miR-1305 CLIP-seq
MIRT980832 hsa-miR-2053 CLIP-seq
MIRT980833 hsa-miR-3120-3p CLIP-seq
MIRT980834 hsa-miR-421 CLIP-seq
MIRT980835 hsa-miR-4289 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8 Show/Hide all (8)
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GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 30905400
GO:0005929 Component Cilium IEA
GO:0030030 Process Cell projection organization IEA
GO:0042995 Component Cell projection IEA
GO:0060271 Process Cilium assembly IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
618413 29162 ENSG00000138286
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96BN6
Protein name Primary cilium assembly protein FAM149B1
Protein function Involved in the localization of proteins to the cilium and cilium assembly. Indirectly regulates the signaling functions of the cilium, being required for normal SHH/smoothened signaling and proper development.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12516 DUF3719 114 → 179 Protein of unknown function (DUF3719) Family
Sequence 
MISRYTRKAVPQSLELKGITKHALNHHPPPEKLEEISPTSDSHEKDTSSQSKSDITRESS
FTSADTGNSLSAFPSYTGAGISTEGSSDFSWGYGELDQNATEKVQTMFTAIDELLYEQKL
SVHTKSLQEECQQWTASFPHLRILGRQIITPSEGYRLYPRSPSAVSASYETTLSQERDST
IFGIRGKKLHFSSSYAHKASSIAKSSSFCSMERDEEDSIIVSEGIIEEYLAFDHIDIEEG
FHGKKSEAATEKQKLGYPPIAPFYCMKEDVLAYVFDSVWCKVVSCMEQLTRSHWEGFASD
DESNVAVTRPDSESSCVLSELHPLVLPRVPQSKVLYITSNPMSLCQASRHQPNVNDLLVH
GMPLQPRNLSLMDKLLDLDDKLLMRPGSSTILSTRNWPNRAVEFSTSSLSYTVQSTRRRN
PPPRTLHPISTSHSCAETPRSVEEILRGARVPVAPDSLSSPSPTPLSRNNLLPPIGTAEV
EHVSTVGPQRQMKPHGDSSRAQSAVVDEPNYQQPQERLLLPDFFPRPNTTQSFLLDTQYR
RSCAVEYPHQARPGRGSAGPQLHGSTKSQSGGRPVSRTRQGP
Sequence length 582
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Clear cell carcinoma of kidney Pathogenic rs750681131 RCV005939474
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Joubert syndrome Likely pathogenic rs1589150410 RCV001175205
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Joubert syndrome 36 Likely pathogenic; Pathogenic rs144804269, rs941024653, rs1233151424, rs750681131, rs1589150410, rs1259897171 RCV003233410
RCV003990217
RCV004560473
RCV004560508
RCV000999699
View all (1 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (10)
Phenotype Name Clinical Significance Source Reference Evidence Score
CONGENITAL ABSENCE OF PART OF BRAIN — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL HYPOPLASIA OF PART OF BRAIN — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FAM149B1-related disorder Uncertain significance; Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FAMILIAL APLASIA OF THE VERMIS — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYDRANENCEPHALY — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (39)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Ataxia Ataxia Pubtator 34828254 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Bilateral Cryptorchidism Cryptorchidism HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Brachydactyly Brachydactyly HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Byzanthine arch palate High palate HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Ciliopathies Ciliopathy Pubtator 30905400, 34828254 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Ciliopathies Ciliopathies BEFREE 30905400
★★★★★
★☆☆☆☆
Found in Text Mining only
Clinodactyly of fingers Clinodactyly HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Conductive hearing loss Hearing Loss HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Congenital absence of kidneys syndrome Renal agenesis HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Congenital Epicanthus Congenital Epicanthus HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
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TMEM218 8 shared diseasesLissencephaly, Congenital brain malformation, Congenital hypoplasia of part of brain, Aplasia of the vermis, Hydranencephaly, Joubert syndrome, Macrogyria, Microgyria 10 shared evidence sourcesDisgenet (Lissencephaly), Disgenet (Congenital brain malformation), Disgenet (Congenital hypoplasia of part of brain), Disgenet (Aplasia of the vermis), Disgenet (Hydranencephaly), Disgenet (Joubert syndrome), ClinVar (Joubert syndrome), HPO (Joubert syndrome), Disgenet (Macrogyria), Disgenet (Microgyria) Related via 8 shared diseases including Lissencephaly, Congenital brain malformation — evidence mostly Disgenet. TOGARAM1 8 shared diseasesLissencephaly, Congenital brain malformation, Congenital hypoplasia of part of brain, Aplasia of the vermis, Hydranencephaly, Joubert syndrome, Macrogyria, Microgyria 10 shared evidence sourcesDisgenet (Lissencephaly), Disgenet (Congenital brain malformation), Disgenet (Congenital hypoplasia of part of brain), Disgenet (Aplasia of the vermis), Disgenet (Hydranencephaly), Disgenet (Joubert syndrome), ClinVar (Joubert syndrome), HPO (Joubert syndrome), Disgenet (Macrogyria), Disgenet (Microgyria) Related via 8 shared diseases including Lissencephaly, Congenital brain malformation — evidence mostly Disgenet. KIAA0753 9 shared diseasesLissencephaly, Congenital brain malformation, Congenital hypoplasia of part of brain, Aplasia of the vermis, Hydranencephaly, Joubert syndrome, Macrogyria, Microgyria, Orofaciodigital syndrome 12 shared evidence sourcesDisgenet (Lissencephaly), Disgenet (Congenital brain malformation), Disgenet (Congenital hypoplasia of part of brain), Disgenet (Aplasia of the vermis), Disgenet (Hydranencephaly), Disgenet (Joubert syndrome), ClinVar (Joubert syndrome), HPO (Joubert syndrome), Disgenet (Macrogyria), Disgenet (Microgyria), Disgenet (Orofaciodigital syndrome), Orphanet (Orofaciodigital syndrome) Related via 9 shared diseases including Lissencephaly, Congenital brain malformation — evidence mostly Disgenet. B9D2 8 shared diseasesLissencephaly, Congenital brain malformation, Congenital hypoplasia of part of brain, Aplasia of the vermis, Hydranencephaly, Joubert syndrome, Macrogyria, Microgyria 8 shared evidence sourcesDisgenet (Lissencephaly), Disgenet (Congenital brain malformation), Disgenet (Congenital hypoplasia of part of brain), Disgenet (Aplasia of the vermis), Disgenet (Hydranencephaly), Disgenet (Joubert syndrome), Disgenet (Macrogyria), Disgenet (Microgyria) Related via 8 shared diseases including Lissencephaly, Congenital brain malformation — evidence mostly Disgenet. ARL3 8 shared diseasesLissencephaly, Congenital brain malformation, Congenital hypoplasia of part of brain, Aplasia of the vermis, Hydranencephaly, Joubert syndrome, Macrogyria, Microgyria 10 shared evidence sourcesDisgenet (Lissencephaly), Disgenet (Congenital brain malformation), Disgenet (Congenital hypoplasia of part of brain), Disgenet (Aplasia of the vermis), Disgenet (Hydranencephaly), Disgenet (Joubert syndrome), ClinVar (Joubert syndrome), HPO (Joubert syndrome), Disgenet (Macrogyria), Disgenet (Microgyria) Related via 8 shared diseases including Lissencephaly, Congenital brain malformation — evidence mostly Disgenet.
Ciliopathy Linked via 3 of 5 related genesTMEM218, TOGARAM1, B9D2 Lung cancer Linked via 2 of 5 related genesTMEM218, KIAA0753 Meckel-gruber syndrome Linked via 2 of 5 related genesTMEM218, B9D2 Brown tendon sheath syndrome Linked via 1 of 5 related genesTOGARAM1 Jeune syndrome Linked via 1 of 5 related genesKIAA0753