Fam246a Gene Detail

Summary

• Symbol
  Fam246a
• Name
  family with sequence similarity 246 member A
• Synonyms
  B830017H08Rik, G3R1

• Feature Type
  protein coding gene
  BioType Conflict
  
• IDs
  MGI:3045365
  NCBI Gene: 433004
• Alliance
  gene page
• Transcription Start Sites
  1 TSS

Location &
Maps

• Sequence Map
  Chr16:17650985-17652872 bp, + strand

  From Ensembl annotation of GRCm39
  

• View this region in JBrowse
  

• Genome Browsers
  Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome 16, 11.05 cM
• Mapping Data
  1 experiment

Strain
Comparison

• SNPs within 2kb
  5 from dbSNP Build 142
• Strain Annotations
  1

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_3045365	protein coding gene	Chr16:17650983-17652883 (+)
129S1/SvImJ	no annotation
A/J	no annotation
AKR/J	no annotation
BALB/cJ	no annotation
C3H/HeJ	no annotation
C57BL/6NJ	no annotation
CAROLI/EiJ	no annotation
CAST/EiJ	no annotation
CBA/J	no annotation
DBA/2J	no annotation
FVB/NJ	no annotation
LP/J	no annotation
NOD/ShiLtJ	no annotation
NZO/HlLtJ	no annotation
PWK/PhJ	no annotation
SPRET/EiJ	no annotation
WSB/EiJ	no annotation

Homology

• Human Ortholog
  FAM246A, family with sequence similarity 246 member A

• Vertebrate Orthologs
  3

Vertebrate Orthology Source

Alliance of Genome Resources

• Human Ortholog
  FAM246A, family with sequence similarity 246 member A
  
• Links
  HGNC:54844

  NCBI Gene ID: 117134598

  UniProt: A0A494C0Y3

  
  
• Chr Location
  22q11.21; chr22:21359596-21361299 (-)  GRCh38

---

• Human Ortholog
  FAM246B, family with sequence similarity 246 member B
  
• Links
  HGNC:54843

  NCBI Gene ID: 117134597

  UniProt: A0A494C0N9

  
  
• Chr Location
  22q11.21; chr22:18633984-18635687 (+)  GRCh38

---

• Human Ortholog
  FAM246C, family with sequence similarity 246 member C (gene/pseudogene)
  
• Links
  HGNC:54842

  NCBI Gene ID: 117134596

  UniProt: P0DSO1

  
  
• Chr Location
  22q11.21; chr22:19029524-19031242 (+)  GRCh38

---

• MGI Vertebrate Homology
  Fam246a stringent orthology
  3 human;1 mouse
  
• HCOP
  vertebrate homology predictions: FAM246A, FAM246B, FAM246C
• Gene Tree
  Fam246a
  

Human Diseases

• References
  1 with disease annotations

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  1 phenotype from 1 allele in 1 genetic background
  10 phenotype references
  

• All Mutations and Alleles
  3
• Endonuclease-mediated
  2
• Targeted
  1
• Genomic Mutations
  2 involving Fam246a
• Find Mice (IMSR)
  0 strains or lines available

Mice homozygous for a null allele are viable and fertile with no gross abnormalities.

Gene Ontology
(GO)
Classifications

Expression

• Assay Results
  706
• cDNA Data
  1

Tissue x Stage Matrix

• Other Mouse Links
  GEO
  Expression Atlas

Sequences &
Gene Models

• All Sequences
  14
• RefSeq
  1
• UniProt
  3

• Ensembl
  ENSMUSG00000116652 (Evidence)
• NCBI Gene
  433004

Representative Sequences			Length	Strain/Species
genomic	ENSMUSG00000116652	Ensembl Gene Model | MGI Sequence Detail	1888	C57BL/6J
transcript	ENSMUST00000235474	Ensembl | MGI Sequence Detail	699	Not Applicable
polypeptide	ENSMUSP00000157543	Ensembl | MGI Sequence Detail	232	Not Applicable

Protein
Information

• UniProt
  3 Sequences

Molecular
Reagents

• All nucleic 1

  cDNA 1

  
  

  Microarray probesets 1

References

• Summaries
  All 21

  Diseases 1

  Phenotypes 10
• Earliest
  J:58432 Kimber WL, et al., Deletion of 150 kb in the minimal DiGeorge/velocardiofacial syndrome critical region in mouse. Hum Mol Genet. 1999 Nov;8(12):2229-37
• Latest
  J:336143 Tabata H, et al., Histological Analysis of a Mouse Model of the 22q11.2 Microdeletion Syndrome. Biomolecules. 2023 Apr 27;13(5)

TSS for Fam246a:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr137339	Chr16:17650545-17650554 (+)	-435 bp