SMIM22 (small integral membrane protein 22) - Rat Genome Database
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Gene: SMIM22 (small integral membrane protein 22) Homo sapiens
Analyze
Symbol: SMIM22
Name: small integral membrane protein 22
RGD ID: 7247217
HGNC Page HGNC
Description: Involved in several processes, including lipid droplet formation; positive regulation of cell migration; and regulation of actin cytoskeleton organization. Predicted to localize to integral component of membrane and late endosome; INTERACTS WITH all-trans-retinoic acid; cisplatin; silicon dioxide.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: CASIMO1; uncharacterized protein LOC440335
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
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
GRCh38.p13 Ensembl164,788,397 - 4,796,491 (+)EnsemblGRCh38hg38GRCh38
GRCh38164,788,395 - 4,796,491 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37164,838,398 - 4,846,492 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36164,785,445 - 4,786,283 (+)NCBINCBI36hg18NCBI36
Celera165,047,168 - 5,055,052 (+)NCBI
Cytogenetic Map16p13.3NCBI
HuRef164,804,628 - 4,812,690 (+)NCBIHuRef
CHM1_1164,839,242 - 4,847,338 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:21873635   PMID:29765154  


Genomics

Comparative Map Data
SMIM22
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl164,788,397 - 4,796,491 (+)EnsemblGRCh38hg38GRCh38
GRCh38164,788,395 - 4,796,491 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37164,838,398 - 4,846,492 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36164,785,445 - 4,786,283 (+)NCBINCBI36hg18NCBI36
Celera165,047,168 - 5,055,052 (+)NCBI
Cytogenetic Map16p13.3NCBI
HuRef164,804,628 - 4,812,690 (+)NCBIHuRef
CHM1_1164,839,242 - 4,847,338 (+)NCBICHM1_1
Smim22
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39164,825,152 - 4,826,173 (+)NCBIGRCm39mm39
GRCm39 Ensembl164,825,152 - 4,826,173 (+)Ensembl
GRCm38165,007,288 - 5,008,309 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl165,007,288 - 5,008,309 (+)EnsemblGRCm38mm10GRCm38
MGSCv37165,007,396 - 5,008,402 (+)NCBIGRCm37mm9NCBIm37
MGSCv36164,922,615 - 4,923,627 (+)NCBImm8
Celera165,638,677 - 5,639,683 (+)NCBICelera
Cytogenetic Map16A1NCBI
Smim22
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21010,572,146 - 10,574,339 (-)NCBI
Rnor_6.0 Ensembl1010,766,208 - 10,767,389 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01010,766,208 - 10,768,044 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0109,533,221 - 9,535,017 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41010,688,460 - 10,689,937 (-)NCBIRGSC3.4rn4RGSC3.4
Celera109,536,341 - 9,537,575 (-)NCBICelera
Cytogenetic Map10q12NCBI
Smim22
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544212,700,461 - 12,701,283 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544212,700,461 - 12,701,283 (-)NCBIChiLan1.0ChiLan1.0
SMIM22
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1164,884,964 - 4,885,870 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl164,884,977 - 4,885,869 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0163,719,356 - 3,720,380 (+)NCBIMhudiblu_PPA_v0panPan3
SMIM22
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl636,624,992 - 36,625,505 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1636,624,080 - 36,625,631 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Smim22
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365304,754,946 - 4,755,830 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SMIM22
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1337,599,574 - 37,601,316 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2338,670,635 - 38,672,152 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SMIM22
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.154,465,215 - 4,466,550 (+)NCBI
ChlSab1.1 Ensembl54,465,603 - 4,466,738 (+)Ensembl
Smim22
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248242,645,488 - 2,649,428 (+)NCBI

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3021
Count of miRNA genes:755
Interacting mature miRNAs:897
Transcripts:ENST00000586005, ENST00000586440, ENST00000588500, ENST00000588606, ENST00000588894, ENST00000589327, ENST00000589721, ENST00000591004, ENST00000591870
Prediction methods:Microtar, Miranda, Rnahybrid
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
High 3
Medium 839 1 227 160 124 22 2 1 204 76 662 273 143 1 2
Low 474 130 373 68 217 55 1292 170 1711 205 378 766 16 34 693 4
Below cutoff 1027 1895 998 341 1033 335 1641 1479 1467 107 315 497 10 602 1067

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001253790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001253791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001253793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001253794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA507469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC020663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC048326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC127921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC128383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC148245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI767985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CK903133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX065456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000586005   ⟹   ENSP00000464748
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl164,795,369 - 4,796,491 (+)Ensembl
RefSeq Acc Id: ENST00000586440   ⟹   ENSP00000465037
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl164,795,713 - 4,796,491 (+)Ensembl
RefSeq Acc Id: ENST00000588500
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl164,795,703 - 4,796,316 (+)Ensembl
RefSeq Acc Id: ENST00000588606   ⟹   ENSP00000464737
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl164,795,378 - 4,796,281 (+)Ensembl
RefSeq Acc Id: ENST00000588894
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl164,795,703 - 4,796,311 (+)Ensembl
RefSeq Acc Id: ENST00000589327   ⟹   ENSP00000468237
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl164,788,456 - 4,796,281 (+)Ensembl
RefSeq Acc Id: ENST00000589721   ⟹   ENSP00000465660
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl164,788,397 - 4,796,281 (+)Ensembl
RefSeq Acc Id: ENST00000591004
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl164,788,413 - 4,795,336 (+)Ensembl
RefSeq Acc Id: ENST00000591870   ⟹   ENSP00000467010
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl164,795,680 - 4,796,279 (+)Ensembl
RefSeq Acc Id: ENST00000615471   ⟹   ENSP00000482700
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl164,788,397 - 4,796,231 (+)Ensembl
RefSeq Acc Id: ENST00000615889   ⟹   ENSP00000481592
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl164,788,397 - 4,796,491 (+)Ensembl
RefSeq Acc Id: NM_001253790   ⟹   NP_001240719
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,788,397 - 4,796,491 (+)NCBI
GRCh37164,838,398 - 4,846,492 (+)NCBI
HuRef164,804,628 - 4,812,690 (+)NCBI
CHM1_1164,839,242 - 4,847,338 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001253791   ⟹   NP_001240720
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,788,456 - 4,796,491 (+)NCBI
GRCh37164,838,398 - 4,846,492 (+)NCBI
HuRef164,804,628 - 4,812,690 (+)NCBI
CHM1_1164,839,301 - 4,847,338 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001253793   ⟹   NP_001240722
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,795,369 - 4,796,491 (+)NCBI
GRCh37164,838,398 - 4,846,492 (+)NCBI
HuRef164,804,628 - 4,812,690 (+)NCBI
CHM1_1164,846,225 - 4,847,338 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001253794   ⟹   NP_001240723
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,795,369 - 4,796,491 (+)NCBI
GRCh37164,838,398 - 4,846,492 (+)NCBI
HuRef164,804,628 - 4,812,690 (+)NCBI
CHM1_1164,846,225 - 4,847,338 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011522499   ⟹   XP_011520801
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,788,395 - 4,796,281 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011522500   ⟹   XP_011520802
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,788,395 - 4,796,281 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011522501   ⟹   XP_011520803
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,788,395 - 4,796,281 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001240719   ⟸   NM_001253790
- Peptide Label: isoform 1
- UniProtKB: A0A1U9AC72 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001240720   ⟸   NM_001253791
- Peptide Label: isoform 2
- UniProtKB: K7EJ46 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001240723   ⟸   NM_001253794
- Peptide Label: isoform 2
- UniProtKB: K7EJ46 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001240722   ⟸   NM_001253793
- Peptide Label: isoform 1
- UniProtKB: A0A1U9AC72 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011520802   ⟸   XM_011522500
- Peptide Label: isoform X1
- UniProtKB: K7EJ46 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011520801   ⟸   XM_011522499
- Peptide Label: isoform X1
- UniProtKB: K7EJ46 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011520803   ⟸   XM_011522501
- Peptide Label: isoform X1
- UniProtKB: K7EJ46 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000464748   ⟸   ENST00000586005
RefSeq Acc Id: ENSP00000465037   ⟸   ENST00000586440
RefSeq Acc Id: ENSP00000464737   ⟸   ENST00000588606
RefSeq Acc Id: ENSP00000468237   ⟸   ENST00000589327
RefSeq Acc Id: ENSP00000465660   ⟸   ENST00000589721
RefSeq Acc Id: ENSP00000481592   ⟸   ENST00000615889
RefSeq Acc Id: ENSP00000482700   ⟸   ENST00000615471
RefSeq Acc Id: ENSP00000467010   ⟸   ENST00000591870

Promoters
RGD ID:7231231
Promoter ID:EPDNEW_H21361
Type:initiation region
Name:SMIM22_3
Description:small integral membrane protein 22
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21362  EPDNEW_H21363  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,788,399 - 4,788,459EPDNEW
RGD ID:7231233
Promoter ID:EPDNEW_H21362
Type:initiation region
Name:SMIM22_1
Description:small integral membrane protein 22
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21361  EPDNEW_H21363  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,795,397 - 4,795,457EPDNEW
RGD ID:7231239
Promoter ID:EPDNEW_H21363
Type:initiation region
Name:SMIM22_2
Description:small integral membrane protein 22
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21361  EPDNEW_H21362  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,795,658 - 4,795,718EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16p13.3(chr16:4490463-4815780)x1 copy number loss See cases [RCV000051115] Chr16:4490463..4815780 [GRCh38]
Chr16:4540464..4865781 [GRCh37]
Chr16:4480465..4805782 [NCBI36]
Chr16:16p13.3		 uncertain significance
GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3 copy number gain See cases [RCV000052367] Chr16:23141..11296695 [GRCh38]
Chr16:73141..11390552 [GRCh37]
Chr16:13141..11298053 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1 copy number loss See cases [RCV000053270] Chr16:2850734..7110697 [GRCh38]
Chr16:2900735..7160698 [GRCh37]
Chr16:2840736..7100699 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3-13.13(chr16:4536131-10852466)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053274]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053274]|See cases [RCV000053274] Chr16:4536131..10852466 [GRCh38]
Chr16:4586132..10946323 [GRCh37]
Chr16:4526133..10853824 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3 copy number gain See cases [RCV000133809] Chr16:4644892..29170820 [GRCh38]
Chr16:4694893..29182141 [GRCh37]
Chr16:4634894..29089642 [NCBI36]
Chr16:16p13.3-11.2		 pathogenic
GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3 copy number gain See cases [RCV000133780] Chr16:46766..11525516 [GRCh38]
Chr16:96766..11619372 [GRCh37]
Chr16:36766..11526873 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3 copy number gain See cases [RCV000139166] Chr16:43732..13326806 [GRCh38]
Chr16:93732..13420663 [GRCh37]
Chr16:33732..13328164 [NCBI36]
Chr16:16p13.3-13.12		 pathogenic
GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3 copy number gain See cases [RCV000143710] Chr16:666662..15743104 [GRCh38]
Chr16:716662..15836961 [GRCh37]
Chr16:656663..15744462 [NCBI36]
Chr16:16p13.3-13.11		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Ductal breast carcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2		 uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3 copy number gain Ductal breast carcinoma [RCV000207326] Chr16:1274615..19073133 [GRCh37]
Chr16:16p13.3-12.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:4740929-4950995)x1 copy number loss See cases [RCV000446335] Chr16:4740929..4950995 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448) copy number gain See cases [RCV000446555] Chr16:78801..9169448 [GRCh37]
Chr16:16p13.3-13.2		 pathogenic
GRCh37/hg19 16p13.3(chr16:97133-5122974)x3 copy number gain See cases [RCV000445663] Chr16:97133..5122974 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:4541805-5813911)x3 copy number gain See cases [RCV000448804] Chr16:4541805..5813911 [GRCh37]
Chr16:16p13.3		 uncertain significance
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3 copy number gain See cases [RCV000510698] Chr16:85880..9883129 [GRCh37]
Chr16:16p13.3-13.2		 pathogenic
GRCh37/hg19 16p13.3(chr16:3146027-6362229)x1 copy number loss See cases [RCV000511703] Chr16:3146027..6362229 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 copy number gain See cases [RCV000511360] Chr16:85880..22442007 [GRCh37]
Chr16:16p13.3-12.2		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 copy number gain See cases [RCV000512194] Chr16:85880..19806921 [GRCh37]
Chr16:16p13.3-12.3		 pathogenic
GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3 copy number gain not provided [RCV000683743] Chr16:85880..11209288 [GRCh37]
Chr16:16p13.3-13.13		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NC_000016.10:g.(?_3727698)_(4802591_?)del deletion Rubinstein-Taybi syndrome [RCV000813975] Chr16:3727698..4802591 [GRCh38]
Chr16:3777699..4852592 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:3731117-5325699)x3 copy number gain not provided [RCV000846351] Chr16:3731117..5325699 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.10:g.(?_3727698)_(4802591_?)dup duplication Kohlschutter's syndrome [RCV001031942] Chr16:3777699..4852592 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3 copy number gain See cases [RCV001263169] Chr16:2959279..30190593 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3(chr16:85880-5249457)x3 copy number gain not provided [RCV001259749] Chr16:85880..5249457 [GRCh37]
Chr16:16p13.3		 pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:48329 AgrOrtholog
COSMIC SMIM22 COSMIC
Ensembl Genes ENSG00000267795 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000464737 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000464748 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000465037 UniProtKB/Swiss-Prot
  ENSP00000465660 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000467010 UniProtKB/Swiss-Prot
  ENSP00000468237 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000481592 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000482700 UniProtKB/TrEMBL
Ensembl Transcript ENST00000586005 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000586440 UniProtKB/Swiss-Prot
  ENST00000588606 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000589327 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000589721 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000591870 UniProtKB/Swiss-Prot
  ENST00000615471 UniProtKB/TrEMBL
  ENST00000615889 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000267795 GTEx
HGNC ID HGNC:48329 ENTREZGENE
Human Proteome Map SMIM22 Human Proteome Map
InterPro DUF4713 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:440335 UniProtKB/Swiss-Prot
NCBI Gene SMIM22 ENTREZGENE
Pfam DUF4713 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA166123737 PharmGKB
UniProt A0A1U9AC72 ENTREZGENE
  A0A4V7I672_HUMAN UniProtKB/TrEMBL
  K7EJ46 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A0A1U9AC72 UniProtKB/Swiss-Prot
  K7EIG5 UniProtKB/Swiss-Prot
  K7EIH2 UniProtKB/Swiss-Prot