FAM228A (family with sequence similarity 228 member A) - Rat Genome Database

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Gene: FAM228A (family with sequence similarity 228 member A) Homo sapiens
Analyze
Symbol: FAM228A
Name: family with sequence similarity 228 member A
RGD ID: 2303337
HGNC Page HGNC:34418
Description: ASSOCIATED WITH genetic disease; INTERACTS WITH 4,4'-sulfonyldiphenol; aflatoxin B1; bis(2-ethylhexyl) phthalate
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C2orf84; family with sequence similarity 228, member A; FLJ30851; hypothetical protein LOC653140; UPF0638 protein C2orf84
RGD Orthologs
Mouse
Rat
Bonobo
Pig
Green Monkey
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38224,175,053 - 24,191,698 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl224,175,053 - 24,200,849 (+)EnsemblGRCh38hg38GRCh38
GRCh37224,397,922 - 24,414,567 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36224,251,476 - 24,268,071 (+)NCBINCBI36Build 36hg18NCBI36
Celera224,238,260 - 24,254,860 (+)NCBICelera
Cytogenetic Map2p23.3NCBI
HuRef224,136,803 - 24,153,398 (+)NCBIHuRef
CHM1_1224,327,343 - 24,343,940 (+)NCBICHM1_1
T2T-CHM13v2.0224,209,749 - 24,226,392 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:15489334   PMID:15815621   PMID:23509962   PMID:28514442   PMID:32296183   PMID:33961781   PMID:35256949  


Genomics

Comparative Map Data
FAM228A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38224,175,053 - 24,191,698 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl224,175,053 - 24,200,849 (+)EnsemblGRCh38hg38GRCh38
GRCh37224,397,922 - 24,414,567 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36224,251,476 - 24,268,071 (+)NCBINCBI36Build 36hg18NCBI36
Celera224,238,260 - 24,254,860 (+)NCBICelera
Cytogenetic Map2p23.3NCBI
HuRef224,136,803 - 24,153,398 (+)NCBIHuRef
CHM1_1224,327,343 - 24,343,940 (+)NCBICHM1_1
T2T-CHM13v2.0224,209,749 - 24,226,392 (+)NCBIT2T-CHM13v2.0
Fam228a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39124,763,668 - 4,788,652 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl124,763,670 - 4,788,430 (-)EnsemblGRCm39 Ensembl
GRCm38124,713,805 - 4,738,439 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl124,713,670 - 4,738,430 (-)EnsemblGRCm38mm10GRCm38
MGSCv37124,720,611 - 4,745,189 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36124,727,701 - 4,752,070 (-)NCBIMGSCv36mm8
Celera124,645,428 - 4,670,006 (-)NCBICelera
Cytogenetic Map12A1.1NCBI
cM Map122.09NCBI
Fam228a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8633,447,427 - 33,469,553 (-)NCBIGRCr8
mRatBN7.2627,727,982 - 27,750,140 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl627,727,984 - 27,750,061 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx628,020,227 - 28,042,333 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0628,336,142 - 28,358,248 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0627,810,677 - 27,832,789 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0630,074,331 - 30,097,876 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl630,074,303 - 30,097,790 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0639,791,232 - 39,812,896 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera627,197,392 - 27,219,790 (-)NCBICelera
Cytogenetic Map6q14NCBI
FAM228A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v212102,318,721 - 102,442,037 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12A102,322,684 - 102,352,856 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02A24,168,688 - 24,197,586 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12A24,268,825 - 24,294,617 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A24,268,825 - 24,285,466 (+)Ensemblpanpan1.1panPan2
FAM228A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.13114,501,837 - 114,537,384 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.23121,775,453 - 121,800,912 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FAM228A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11483,454,788 - 83,478,353 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1483,459,761 - 83,475,696 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604528,692,379 - 28,728,004 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in FAM228A
11 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2p25.3-23.1(chr2:30141-31766749)x3 copy number gain See cases [RCV000052929] Chr2:30141..31766749 [GRCh38]
Chr2:30141..31991818 [GRCh37]
Chr2:20141..31845322 [NCBI36]
Chr2:2p25.3-23.1		 pathogenic
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 copy number gain See cases [RCV000052933] Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1		 pathogenic
NM_001040710.2(FAM228A):c.-57A>G single nucleotide variant Lung cancer [RCV000091975] Chr2:24175132 [GRCh38]
Chr2:24398001 [GRCh37]
Chr2:2p23.3		 uncertain significance
GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3 copy number gain See cases [RCV000135398] Chr2:30341..28419664 [GRCh38]
Chr2:30341..28642531 [GRCh37]
Chr2:20341..28496035 [NCBI36]
Chr2:2p25.3-23.2		 pathogenic
GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3 copy number gain See cases [RCV000137344] Chr2:17019..26318846 [GRCh38]
Chr2:17019..26541714 [GRCh37]
Chr2:7019..26395218 [NCBI36]
Chr2:2p25.3-23.3		 pathogenic
GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3 copy number gain See cases [RCV000141877] Chr2:12770..25039694 [GRCh38]
Chr2:12770..25262563 [GRCh37]
Chr2:2770..25116067 [NCBI36]
Chr2:2p25.3-23.3		 pathogenic
GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3 copy number gain See cases [RCV000141829] Chr2:12770..33711509 [GRCh38]
Chr2:12770..33936576 [GRCh37]
Chr2:2770..33790080 [NCBI36]
Chr2:2p25.3-22.3		 pathogenic
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2		 benign
GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1 copy number loss See cases [RCV000142071] Chr2:22579652..28525186 [GRCh38]
Chr2:22802524..28748053 [GRCh37]
Chr2:22656029..28601557 [NCBI36]
Chr2:2p24.1-23.2		 pathogenic
GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 copy number gain See cases [RCV000143682] Chr2:236816..45983232 [GRCh38]
Chr2:236816..46210371 [GRCh37]
Chr2:226816..46063875 [NCBI36]
Chr2:2p25.3-21		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p23.3(chr2:24235780-25700427)x1 copy number loss not provided [RCV000509286] Chr2:24235780..25700427 [GRCh37]
Chr2:2p23.3		 not provided
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p23.3(chr2:24315204-26384655)x3 copy number gain not provided [RCV000682143] Chr2:24315204..26384655 [GRCh37]
Chr2:2p23.3		 uncertain significance
GRCh37/hg19 2p24.1-23.3(chr2:19905995-24762790)x1 copy number loss not provided [RCV000682157] Chr2:19905995..24762790 [GRCh37]
Chr2:2p24.1-23.3		 pathogenic
GRCh37/hg19 2p24.1-16.3(chr2:22665048-52850368)x3 copy number gain not provided [RCV000752875] Chr2:22665048..52850368 [GRCh37]
Chr2:2p24.1-16.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_001040710.3(FAM228A):c.286G>C (p.Glu96Gln) single nucleotide variant Inborn genetic diseases [RCV003253039] Chr2:24183530 [GRCh38]
Chr2:24406399 [GRCh37]
Chr2:2p23.3		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p24.1-23.3(chr2:22439520-25608211)x1 copy number loss 2p24.1p23.3 microdeletion syndrome [RCV002247168] Chr2:22439520..25608211 [GRCh37]
Chr2:2p24.1-23.3		 pathogenic|likely pathogenic
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 copy number loss See cases [RCV002287563] Chr2:11504318..111365996 [GRCh37]
Chr2:2p25.1-q13		 pathogenic
GRCh37/hg19 2p24.1-23.3(chr2:23908436-24636185)x3 copy number gain not provided [RCV002474776] Chr2:23908436..24636185 [GRCh37]
Chr2:2p24.1-23.3		 uncertain significance
GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3 copy number gain not provided [RCV002473946] Chr2:706460..35523639 [GRCh37]
Chr2:2p25.3-22.3		 pathogenic
NM_001040710.3(FAM228A):c.553G>T (p.Gly185Cys) single nucleotide variant Inborn genetic diseases [RCV002972954] Chr2:24190563 [GRCh38]
Chr2:24413432 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001040710.3(FAM228A):c.161A>G (p.Lys54Arg) single nucleotide variant Inborn genetic diseases [RCV002931413] Chr2:24177869 [GRCh38]
Chr2:24400738 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001040710.3(FAM228A):c.321C>A (p.Phe107Leu) single nucleotide variant Inborn genetic diseases [RCV002940600] Chr2:24183565 [GRCh38]
Chr2:24406434 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001040710.3(FAM228A):c.574G>T (p.Ala192Ser) single nucleotide variant Inborn genetic diseases [RCV002941609] Chr2:24190584 [GRCh38]
Chr2:24413453 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001040710.3(FAM228A):c.70C>A (p.Pro24Thr) single nucleotide variant Inborn genetic diseases [RCV002719819] Chr2:24175550 [GRCh38]
Chr2:24398419 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001040710.3(FAM228A):c.83C>G (p.Ser28Cys) single nucleotide variant Inborn genetic diseases [RCV002963683] Chr2:24175563 [GRCh38]
Chr2:24398432 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001040710.3(FAM228A):c.323C>T (p.Thr108Ile) single nucleotide variant Inborn genetic diseases [RCV002722540] Chr2:24183567 [GRCh38]
Chr2:24406436 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001040710.3(FAM228A):c.77C>T (p.Ser26Phe) single nucleotide variant Inborn genetic diseases [RCV003358953] Chr2:24175557 [GRCh38]
Chr2:24398426 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001040710.3(FAM228A):c.512A>G (p.Gln171Arg) single nucleotide variant Inborn genetic diseases [RCV003375778] Chr2:24190522 [GRCh38]
Chr2:24413391 [GRCh37]
Chr2:2p23.3		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1135
Count of miRNA genes:763
Interacting mature miRNAs:862
Transcripts:ENST00000295150, ENST00000415196, ENST00000432434, ENST00000456591
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1 1 1 367 4 4
Low 1628 1817 1003 48 275 22 2459 1032 3286 114 706 1108 27 1183 1626 1
Below cutoff 680 1129 623 481 1299 349 1752 1132 407 247 283 405 139 17 1154 2 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000295150   ⟹   ENSP00000295150
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl224,175,053 - 24,191,698 (+)Ensembl
RefSeq Acc Id: ENST00000415196   ⟹   ENSP00000416595
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl224,183,542 - 24,200,849 (+)Ensembl
RefSeq Acc Id: ENST00000432434   ⟹   ENSP00000412833
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl224,175,288 - 24,200,846 (+)Ensembl
RefSeq Acc Id: ENST00000456591   ⟹   ENSP00000401257
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl224,175,069 - 24,200,846 (+)Ensembl
RefSeq Acc Id: NM_001040710   ⟹   NP_001035800
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38224,175,053 - 24,191,698 (+)NCBI
GRCh37224,397,471 - 24,423,718 (+)NCBI
Build 36224,251,476 - 24,268,071 (+)NCBI Archive
Celera224,238,260 - 24,254,860 (+)RGD
HuRef224,136,803 - 24,153,398 (+)RGD
CHM1_1224,327,283 - 24,343,940 (+)NCBI
T2T-CHM13v2.0224,209,749 - 24,226,392 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001035800 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH50462 (Get FASTA)   NCBI Sequence Viewer  
  AAY14667 (Get FASTA)   NCBI Sequence Viewer  
  EAX00756 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000295150
  ENSP00000295150.3
  ENSP00000401257.1
  ENSP00000412833.2
  ENSP00000416595.1
GenBank Protein Q86W67 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001035800   ⟸   NM_001040710
- UniProtKB: Q86W67 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000295150   ⟸   ENST00000295150
RefSeq Acc Id: ENSP00000416595   ⟸   ENST00000415196
RefSeq Acc Id: ENSP00000401257   ⟸   ENST00000456591
RefSeq Acc Id: ENSP00000412833   ⟸   ENST00000432434

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q86W67-F1-model_v2 AlphaFold Q86W67 1-206 view protein structure

Promoters
RGD ID:6859774
Promoter ID:EPDNEW_H3051
Type:initiation region
Name:FAM228A_3
Description:family with sequence similarity 228 member A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3043  EPDNEW_H3048  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38224,175,082 - 24,175,142EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:34418 AgrOrtholog
COSMIC FAM228A COSMIC
Ensembl Genes ENSG00000186453 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000295150 ENTREZGENE
  ENST00000295150.8 UniProtKB/Swiss-Prot
  ENST00000415196.1 UniProtKB/TrEMBL
  ENST00000432434.2 UniProtKB/TrEMBL
  ENST00000456591.6 UniProtKB/TrEMBL
GTEx ENSG00000186453 GTEx
HGNC ID HGNC:34418 ENTREZGENE
Human Proteome Map FAM228A Human Proteome Map
InterPro FAM228 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:653140 UniProtKB/Swiss-Prot
NCBI Gene 653140 ENTREZGENE
PANTHER PROTEIN FAM228A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR28584 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA164717160 PharmGKB
UniProt F228A_HUMAN UniProtKB/Swiss-Prot
  F2Z3J0_HUMAN UniProtKB/TrEMBL
  H7C3M9_HUMAN UniProtKB/TrEMBL
  H7C4B8_HUMAN UniProtKB/TrEMBL
  Q86W67 ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 FAM228A  family with sequence similarity 228 member A    family with sequence similarity 228, member A  Symbol and/or name change 5135510 APPROVED
2012-07-13 FAM228A  family with sequence similarity 228, member A  C2orf84  chromosome 2 open reading frame 84  Symbol and/or name change 5135510 APPROVED