SUSD2 (sushi domain containing 2) - Rat Genome Database

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Gene: SUSD2 (sushi domain containing 2) Homo sapiens
Analyze
Symbol: SUSD2
Name: sushi domain containing 2
RGD ID: 1318458
HGNC Page HGNC:30667
Description: Involved in negative regulation of cell cycle G1/S phase transition and negative regulation of cell division. Located in plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: BK65A6.2; FLJ22778; Sushi domain (SCR repeat) containing; sushi domain-containing protein 2; testicular tissue protein Li 190; W5C5
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: SUSD2P1   SUSD2P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382224,181,487 - 24,189,106 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl2224,181,487 - 24,189,106 (+)EnsemblGRCh38hg38GRCh38
GRCh372224,577,455 - 24,585,074 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362222,907,444 - 22,915,074 (+)NCBINCBI36Build 36hg18NCBI36
Build 342222,901,997 - 22,909,628NCBI
Celera228,377,843 - 8,385,473 (+)NCBICelera
Cytogenetic Map22q11.23NCBI
HuRef227,526,554 - 7,534,184 (+)NCBIHuRef
CHM1_12224,536,185 - 24,543,815 (+)NCBICHM1_1
T2T-CHM13v2.02224,643,101 - 24,650,720 (+)NCBIT2T-CHM13v2.0
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

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
Seizure  (IAGP)
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
3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:10591208   PMID:14702039   PMID:15489334   PMID:16335952   PMID:17353931   PMID:18029348   PMID:19056867   PMID:21873635   PMID:23131994   PMID:23376485   PMID:23406305   PMID:23533145  
PMID:23624525   PMID:24927181   PMID:25351403   PMID:25677198   PMID:26815503   PMID:28475599   PMID:28841682   PMID:30259711   PMID:30335544   PMID:32296183   PMID:32344865   PMID:32432739  
PMID:32620384   PMID:33453237   PMID:33537815   PMID:33836533   PMID:33961781   PMID:35259051  


Genomics

Comparative Map Data
SUSD2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382224,181,487 - 24,189,106 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl2224,181,487 - 24,189,106 (+)EnsemblGRCh38hg38GRCh38
GRCh372224,577,455 - 24,585,074 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362222,907,444 - 22,915,074 (+)NCBINCBI36Build 36hg18NCBI36
Build 342222,901,997 - 22,909,628NCBI
Celera228,377,843 - 8,385,473 (+)NCBICelera
Cytogenetic Map22q11.23NCBI
HuRef227,526,554 - 7,534,184 (+)NCBIHuRef
CHM1_12224,536,185 - 24,543,815 (+)NCBICHM1_1
T2T-CHM13v2.02224,643,101 - 24,650,720 (+)NCBIT2T-CHM13v2.0
Susd2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391075,472,453 - 75,479,842 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1075,472,540 - 75,479,842 (-)EnsemblGRCm39 Ensembl
GRCm381075,636,619 - 75,644,008 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1075,636,706 - 75,644,008 (-)EnsemblGRCm38mm10GRCm38
MGSCv371075,099,364 - 75,106,753 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361075,080,339 - 75,087,705 (-)NCBIMGSCv36mm8
Celera1076,681,312 - 76,688,702 (-)NCBICelera
Cytogenetic Map10C1NCBI
Susd2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22013,017,468 - 13,024,903 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2013,017,477 - 13,024,903 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2013,724,061 - 13,731,487 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.02013,085,008 - 13,092,434 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.02013,557,212 - 13,564,648 (+)NCBIRnor_WKY
Rnor_6.02013,965,098 - 13,972,547 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2013,965,121 - 13,972,547 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02016,153,336 - 16,160,769 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42013,435,257 - 13,442,683 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12013,436,129 - 13,442,834 (-)NCBI
Celera2014,506,101 - 14,513,451 (+)NCBICelera
Cytogenetic Map20p12NCBI
Susd2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554558,147,783 - 8,159,086 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554558,151,199 - 8,159,018 (-)NCBIChiLan1.0ChiLan1.0
SUSD2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12223,073,387 - 23,081,082 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2223,073,481 - 23,080,411 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0224,987,563 - 4,995,242 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
SUSD2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12628,356,563 - 28,363,843 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2628,356,193 - 28,362,442 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2627,430,929 - 27,438,209 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02629,760,573 - 29,767,853 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2629,760,573 - 29,767,827 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12627,844,557 - 27,851,844 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02627,461,067 - 27,468,347 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02628,451,211 - 28,458,495 (-)NCBIUU_Cfam_GSD_1.0
Susd2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118141,866,738 - 141,876,951 (+)NCBIHiC_Itri_2
SpeTri2.0NW_004936619878,737 - 887,319 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SUSD2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1449,674,141 - 49,683,695 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11449,671,856 - 49,683,889 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21453,113,830 - 53,125,708 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SUSD2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1197,289,836 - 7,299,518 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl197,291,908 - 7,299,542 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366610062,566 - 70,336 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Susd2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474710,099,806 - 10,107,935 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474710,100,191 - 10,107,914 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:734
Count of miRNA genes:489
Interacting mature miRNAs:542
Transcripts:ENST00000358321, ENST00000463101
Prediction methods: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
Medium 696 1565 921 69 166 29 2924 271 657 163 708 1361 41 863 1854 1
Low 1678 877 747 508 712 390 1339 1835 2864 207 715 162 128 341 887 1
Below cutoff 53 539 52 45 989 45 86 85 189 45 26 76 2 47 3

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000358321   ⟹   ENSP00000351075
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2224,181,487 - 24,189,106 (+)Ensembl
RefSeq Acc Id: ENST00000463101
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2224,182,577 - 24,189,106 (+)Ensembl
RefSeq Acc Id: NM_019601   ⟹   NP_062547
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,181,487 - 24,189,106 (+)NCBI
GRCh372224,577,444 - 24,585,074 (+)RGD
Build 362222,907,444 - 22,915,074 (+)NCBI Archive
Celera228,377,843 - 8,385,473 (+)RGD
HuRef227,526,554 - 7,534,184 (+)RGD
CHM1_12224,536,185 - 24,543,815 (+)NCBI
T2T-CHM13v2.02224,643,101 - 24,650,720 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_062547   ⟸   NM_019601
- Peptide Label: precursor
- UniProtKB: Q9H5Y6 (UniProtKB/Swiss-Prot),   Q9UGT4 (UniProtKB/Swiss-Prot),   A0A140VJW3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000351075   ⟸   ENST00000358321
Protein Domains
AMOP   SMB   Sushi   VWFD

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UGT4-F1-model_v2 AlphaFold Q9UGT4 1-822 view protein structure

Promoters
RGD ID:13603474
Promoter ID:EPDNEW_H27921
Type:initiation region
Name:SUSD2_1
Description:sushi domain containing 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,181,487 - 24,181,547EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh37/hg19 22q11.23(chr22:23720171-25065576) copy number gain Cerebellar ataxia [RCV000626496] Chr22:23720171..25065576 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3 copy number gain See cases [RCV000050768] Chr22:18178957..31821193 [GRCh38]
Chr22:18661724..32217179 [GRCh37]
Chr22:17041724..30547179 [NCBI36]
Chr22:22q11.21-12.3
pathogenic
GRCh38/hg38 22q11.22-11.23(chr22:22669543-24563859)x3 copy number gain See cases [RCV000050739] Chr22:22669543..24563859 [GRCh38]
Chr22:23012013..24959827 [GRCh37]
Chr22:21342013..23289827 [NCBI36]
Chr22:22q11.22-11.23
conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
GRCh38/hg38 22q11.23(chr22:23338443-24610403)x3 copy number gain See cases [RCV000053174] Chr22:23338443..24610403 [GRCh38]
Chr22:23680630..25006370 [GRCh37]
Chr22:22010630..23336370 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.21-11.23(chr22:21454661-24197852)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053084]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053084]|See cases [RCV000053084] Chr22:21454661..24197852 [GRCh38]
Chr22:21808950..24593820 [GRCh37]
Chr22:20138950..22923820 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21457690-24220231)x1 copy number loss See cases [RCV000053087] Chr22:21457690..24220231 [GRCh38]
Chr22:21811979..24616199 [GRCh37]
Chr22:20141979..22946199 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
GRCh38/hg38 22q11.23(chr22:23338443-24577664)x3 copy number gain See cases [RCV000053175] Chr22:23338443..24577664 [GRCh38]
Chr22:23680630..24973632 [GRCh37]
Chr22:22010630..23303632 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23354221-24541945)x3 copy number gain See cases [RCV000053176] Chr22:23354221..24541945 [GRCh38]
Chr22:23696408..24937913 [GRCh37]
Chr22:22026408..23267913 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23369950-24669609)x3 copy number gain See cases [RCV000053177] Chr22:23369950..24669609 [GRCh38]
Chr22:23712137..25065576 [GRCh37]
Chr22:22042137..23395576 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23377784-24564000)x3 copy number gain See cases [RCV000053178] Chr22:23377784..24564000 [GRCh38]
Chr22:23719971..24959968 [GRCh37]
Chr22:22049971..23289968 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23377984-24563859)x3 copy number gain See cases [RCV000053179] Chr22:23377984..24563859 [GRCh38]
Chr22:23720171..24959827 [GRCh37]
Chr22:22050171..23289827 [NCBI36]
Chr22:22q11.23
conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
GRCh38/hg38 22q11.21-11.23(chr22:21562911-24307688)x1 copy number loss See cases [RCV000053090] Chr22:21562911..24307688 [GRCh38]
Chr22:21917200..24703656 [GRCh37]
Chr22:20247200..23033656 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
GRCh38/hg38 22q11.23(chr22:23377984-24669609)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053181]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053181]|See cases [RCV000053181] Chr22:23377984..24669609 [GRCh38]
Chr22:23720171..25065576 [GRCh37]
Chr22:22050171..23395576 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23414627-24563859)x3 copy number gain See cases [RCV000053182] Chr22:23414627..24563859 [GRCh38]
Chr22:23756814..24959827 [GRCh37]
Chr22:22086814..23289827 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3 copy number gain See cases [RCV000053104] Chr22:16916608..24358936 [GRCh38]
Chr22:17397498..24754904 [GRCh37]
Chr22:15777498..23084904 [NCBI36]
Chr22:22q11.1-11.23
pathogenic
GRCh38/hg38 22q11.22-11.23(chr22:22686122-24577664)x3 copy number gain See cases [RCV000053161] Chr22:22686122..24577664 [GRCh38]
Chr22:23028586..24973632 [GRCh37]
Chr22:21358586..23303632 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22703701-24669609)x3 copy number gain See cases [RCV000053163] Chr22:22703701..24669609 [GRCh38]
Chr22:23046186..25065576 [GRCh37]
Chr22:21376186..23395576 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23285152-24723136)x3 copy number gain See cases [RCV000053164] Chr22:23285152..24723136 [GRCh38]
Chr22:23627339..25119103 [GRCh37]
Chr22:21957339..23449103 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.21-11.23(chr22:21443815-24235645)x1 copy number loss See cases [RCV000053074] Chr22:21443815..24235645 [GRCh38]
Chr22:21798104..24631613 [GRCh37]
Chr22:20128104..22961613 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454461-24247296)x1 copy number loss See cases [RCV000053077] Chr22:21454461..24247296 [GRCh38]
Chr22:21808750..24643264 [GRCh37]
Chr22:20138750..22973264 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454661-24289119)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053079]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053079]|See cases [RCV000053079] Chr22:21454661..24289119 [GRCh38]
Chr22:21808950..24685087 [GRCh37]
Chr22:20138950..23015087 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
NM_019601.3(SUSD2):c.1203C>T (p.Pro401=) single nucleotide variant Malignant melanoma [RCV000063880] Chr22:24185793 [GRCh38]
Chr22:24581761 [GRCh37]
Chr22:22911761 [NCBI36]
Chr22:22q11.23
not provided
CABIN1:c.6602C>T single nucleotide variant Malignant melanoma [RCV000072907] Chr22:24178135 [GRCh38]
Chr22:24574103 [GRCh37]
Chr22:22904103 [NCBI36]
Chr22:22q11.23
not provided
Single allele duplication Epilepsy [RCV001293375] Chr22:23699269..24992266 [GRCh37]
Chr22:22q11.23
pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q11.22-11.23(chr22:22669599-24670517)x3 copy number gain See cases [RCV000136060] Chr22:22669599..24670517 [GRCh38]
Chr22:23012069..25066484 [GRCh37]
Chr22:21342069..23396484 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.21-11.23(chr22:20726972-24197852)x1 copy number loss See cases [RCV000136889] Chr22:20726972..24197852 [GRCh38]
Chr22:21081260..24593820 [GRCh37]
Chr22:19411260..22923820 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454661-24247140)x1 copy number loss See cases [RCV000137685] Chr22:21454661..24247140 [GRCh38]
Chr22:21808950..24643108 [GRCh37]
Chr22:20138950..22973108 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
GRCh38/hg38 22q11.23(chr22:23311976-24644628)x3 copy number gain See cases [RCV000137701] Chr22:23311976..24644628 [GRCh38]
Chr22:23654163..25040595 [GRCh37]
Chr22:21984163..23370595 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22660239-24644628)x3 copy number gain See cases [RCV000137410] Chr22:22660239..24644628 [GRCh38]
Chr22:23002709..25040595 [GRCh37]
Chr22:21332709..23370595 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23804407-24669609)x3 copy number gain See cases [RCV000137178] Chr22:23804407..24669609 [GRCh38]
Chr22:24146594..25065576 [GRCh37]
Chr22:22476594..23395576 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3 copy number gain See cases [RCV000138172] Chr22:23279231..36247369 [GRCh38]
Chr22:23621418..36643415 [GRCh37]
Chr22:21951418..34973361 [NCBI36]
Chr22:22q11.23-12.3
pathogenic
GRCh38/hg38 22q11.23(chr22:23311976-24600238)x3 copy number gain See cases [RCV000137995] Chr22:23311976..24600238 [GRCh38]
Chr22:23654163..24996205 [GRCh37]
Chr22:21984163..23326205 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3 copy number gain See cases [RCV000137926] Chr22:20907226..37187347 [GRCh38]
Chr22:21261514..37583387 [GRCh37]
Chr22:19591514..35913333 [NCBI36]
Chr22:22q11.21-12.3
pathogenic
GRCh38/hg38 22q11.22-11.23(chr22:22660239-24600238)x3 copy number gain See cases [RCV000137795] Chr22:22660239..24600238 [GRCh38]
Chr22:23002709..24996205 [GRCh37]
Chr22:21332709..23326205 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.21-11.23(chr22:21207181-24247140)x3 copy number gain See cases [RCV000138673] Chr22:21207181..24247140 [GRCh38]
Chr22:21561470..24643108 [GRCh37]
Chr22:19891470..22973108 [NCBI36]
Chr22:22q11.21-11.23
uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22660239-24596054)x3 copy number gain See cases [RCV000138249] Chr22:22660239..24596054 [GRCh38]
Chr22:23002709..24992021 [GRCh37]
Chr22:21332709..23322021 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23311976-24669609)x3 copy number gain See cases [RCV000139440] Chr22:23311976..24669609 [GRCh38]
Chr22:23654163..25065576 [GRCh37]
Chr22:21984163..23395576 [NCBI36]
Chr22:22q11.23
likely benign|uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22655333-24663664)x3 copy number gain See cases [RCV000141936] Chr22:22655333..24663664 [GRCh38]
Chr22:22997803..25059631 [GRCh37]
Chr22:21327803..23389631 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23308686-24647020)x3 copy number gain See cases [RCV000141802] Chr22:23308686..24647020 [GRCh38]
Chr22:23650873..25042987 [GRCh37]
Chr22:21980873..23372987 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22655333-24630890)x3 copy number gain See cases [RCV000142221] Chr22:22655333..24630890 [GRCh38]
Chr22:22997803..25026857 [GRCh37]
Chr22:21327803..23356857 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22655333-24647020)x3 copy number gain See cases [RCV000143750] Chr22:22655333..24647020 [GRCh38]
Chr22:22997803..25042987 [GRCh37]
Chr22:21327803..23372987 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22669543-24563859)x3 copy number gain See cases [RCV000148079] Chr22:22669543..24563859 [GRCh38]
Chr22:23012013..24959827 [GRCh37]
Chr22:21342013..23289827 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23348201-24647020)x3 copy number gain See cases [RCV000143627] Chr22:23348201..24647020 [GRCh38]
Chr22:23690388..25042987 [GRCh37]
Chr22:22020388..23372987 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22920775-24606692)x3 copy number gain See cases [RCV000143543] Chr22:22920775..24606692 [GRCh38]
Chr22:23262947..25002659 [GRCh37]
Chr22:21592947..23332659 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23310399-24643051)x3 copy number gain See cases [RCV000143562] Chr22:23310399..24643051 [GRCh38]
Chr22:23652586..25039018 [GRCh37]
Chr22:21982586..23369018 [NCBI36]
Chr22:22q11.23
likely benign|uncertain significance
GRCh38/hg38 22q11.23(chr22:23377984-24563859)x3 copy number gain See cases [RCV000148169] Chr22:23377984..24563859 [GRCh38]
Chr22:23720171..24959827 [GRCh37]
Chr22:22050171..23289827 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.23(chr22:23891773-24991691)x3 copy number gain See cases [RCV000203419] Chr22:23891773..24991691 [GRCh37]
Chr22:22q11.23
likely pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:23258229-25046803)x3 copy number gain See cases [RCV000239808] Chr22:23258229..25046803 [GRCh37]
Chr22:22q11.22-11.23
pathogenic
GRCh37/hg19 22q11.21-12.1(chr22:18738296-25914592)x1 copy number loss Premature ovarian failure [RCV000225330] Chr22:18738296..25914592 [GRCh37]
Chr22:22q11.21-12.1
benign
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22976696-25053311)x3 copy number gain See cases [RCV000239999] Chr22:22976696..25053311 [GRCh37]
Chr22:22q11.22-11.23
pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3 copy number gain See cases [RCV000240348] Chr22:16054691..27296513 [GRCh37]
Chr22:22q11.1-12.1
pathogenic
GRCh37/hg19 22q11.23(chr22:24401196-25010751)x3 copy number gain See cases [RCV000240545] Chr22:24401196..25010751 [GRCh37]
Chr22:22q11.23
pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:23258938-25002659)x3 copy number gain See cases [RCV000446585] Chr22:23258938..25002659 [GRCh37]
Chr22:22q11.22-11.23
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22997802-25002659)x3 copy number gain See cases [RCV000445706] Chr22:22997802..25002659 [GRCh37]
Chr22:22q11.22-11.23
likely pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:23258229-25046758)x3 copy number gain See cases [RCV000445819] Chr22:23258229..25046758 [GRCh37]
Chr22:22q11.22-11.23
pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21804562-24659578)x3 copy number gain See cases [RCV000445928] Chr22:21804562..24659578 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.23(chr22:23652517-25042987)x3 copy number gain See cases [RCV000448006] Chr22:23652517..25042987 [GRCh37]
Chr22:22q11.23
uncertain significance
NC_000022.10:g.(?_23667751)_(25041986_?)dup duplication Schizophrenia [RCV000416698] Chr22:23667751..25041986 [GRCh37]
Chr22:21997751..23371986 [NCBI36]
Chr22:22q11.23
likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NC_000022.10:g.(?_22971580)_(25041986_?)dup duplication Schizophrenia [RCV000416783] Chr22:22971580..25041986 [GRCh37]
Chr22:21301580..23371986 [NCBI36]
Chr22:22q11.22-11.23
likely pathogenic
NC_000022.10:g.(?_23667751)_(24991609_?)dup duplication Schizophrenia [RCV000416915] Chr22:23667751..24991609 [GRCh37]
Chr22:21997751..23321609 [NCBI36]
Chr22:22q11.23
likely pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21798907-24963935)x3 copy number gain See cases [RCV000510487] Chr22:21798907..24963935 [GRCh37]
Chr22:22q11.21-11.23
uncertain significance
GRCh37/hg19 22q11.23(chr22:23690387-25039018)x3 copy number gain See cases [RCV000511883] Chr22:23690387..25039018 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.22-11.23(chr22:22997802-25033630)x3 copy number gain See cases [RCV000511378] Chr22:22997802..25033630 [GRCh37]
Chr22:22q11.22-11.23
uncertain significance
GRCh37/hg19 22q11.23(chr22:23690387-25066472)x3 copy number gain See cases [RCV000511837] Chr22:23690387..25066472 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.23(chr22:23690387-24666092)x1 copy number loss See cases [RCV000511065] Chr22:23690387..24666092 [GRCh37]
Chr22:22q11.23
pathogenic
GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3 copy number gain See cases [RCV000511098] Chr22:23637907..36614412 [GRCh37]
Chr22:22q11.23-12.3
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.23(chr22:23653979-25066472)x3 copy number gain See cases [RCV000512168] Chr22:23653979..25066472 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.23(chr22:23652549-25042987)x3 copy number gain See cases [RCV000512454] Chr22:23652549..25042987 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22951048-25156289)x3 copy number gain not provided [RCV000684506] Chr22:22951048..25156289 [GRCh37]
Chr22:22q11.22-11.23
likely pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21465661-24653491)x1 copy number loss not provided [RCV000684518] Chr22:21465661..24653491 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21465661-24885806)x1 copy number loss not provided [RCV000684520] Chr22:21465661..24885806 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3 copy number gain not provided [RCV000684530] Chr22:22460754..35198232 [GRCh37]
Chr22:22q11.22-12.3
pathogenic
GRCh37/hg19 22q11.23(chr22:23650871-25002659)x3 copy number gain not provided [RCV000684494] Chr22:23650871..25002659 [GRCh37]
Chr22:22q11.23
likely pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22945889-25059631)x3 copy number gain not provided [RCV000684504] Chr22:22945889..25059631 [GRCh37]
Chr22:22q11.22-11.23
pathogenic|likely pathogenic
Single allele duplication Schizophrenia [RCV000754256] Chr22:22624794..24654160 [GRCh38]
Chr22:22q11.22-11.23
likely pathogenic
Single allele duplication Schizophrenia [RCV000754258] Chr22:23317839..24597843 [GRCh38]
Chr22:22q11.23
likely pathogenic
Single allele duplication Schizophrenia [RCV000754259] Chr22:23317839..24654160 [GRCh38]
Chr22:22q11.23
likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.23(chr22:24479193-24608329)x1 copy number loss not provided [RCV000741869] Chr22:24479193..24608329 [GRCh37]
Chr22:22q11.23
benign
GRCh37/hg19 22q11.23(chr22:24482989-24580216)x1 copy number loss not provided [RCV000741870] Chr22:24482989..24580216 [GRCh37]
Chr22:22q11.23
benign
GRCh37/hg19 22q11.23(chr22:24482989-24580562)x1 copy number loss not provided [RCV000741871] Chr22:24482989..24580562 [GRCh37]
Chr22:22q11.23
benign
GRCh37/hg19 22q11.23(chr22:24482989-24608329)x1 copy number loss not provided [RCV000741872] Chr22:24482989..24608329 [GRCh37]
Chr22:22q11.23
benign
GRCh37/hg19 22q11.23(chr22:24482989-24615506)x1 copy number loss not provided [RCV000741873] Chr22:24482989..24615506 [GRCh37]
Chr22:22q11.23
benign
GRCh37/hg19 22q11.23(chr22:24499356-24580562)x1 copy number loss not provided [RCV000741874] Chr22:24499356..24580562 [GRCh37]
Chr22:22q11.23
benign
GRCh37/hg19 22q11.23(chr22:24564477-24582739)x1 copy number loss not provided [RCV000741875] Chr22:24564477..24582739 [GRCh37]
Chr22:22q11.23
benign
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_019601.4(SUSD2):c.44C>T (p.Thr15Ile) single nucleotide variant not provided [RCV000881687] Chr22:24181563 [GRCh38]
Chr22:24577531 [GRCh37]
Chr22:22q11.23
benign
NM_019601.4(SUSD2):c.1495C>T (p.Arg499Cys) single nucleotide variant not provided [RCV000948123] Chr22:24186268 [GRCh38]
Chr22:24582236 [GRCh37]
Chr22:22q11.23
benign
NM_019601.4(SUSD2):c.1479C>T (p.Ser493=) single nucleotide variant not provided [RCV000902255] Chr22:24186155 [GRCh38]
Chr22:24582123 [GRCh37]
Chr22:22q11.23
likely benign
NC_000022.10:g.(?_24129357)_(24836024_?)dup duplication not provided [RCV001031059] Chr22:24129357..24836024 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.23(chr22:23653987-25158391) copy number gain not provided [RCV000767635] Chr22:23653987..25158391 [GRCh37]
Chr22:22q11.23
likely pathogenic
GRCh37/hg19 22q11.23(chr22:23652517-25002659)x3 copy number gain 22q11.2 distal duplication syndrome [RCV000788073] Chr22:23652517..25002659 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.22-11.23(chr22:22998284-25119103)x3 copy number gain Global developmental delay [RCV000787284] Chr22:22998284..25119103 [GRCh37]
Chr22:22q11.22-11.23
likely pathogenic
GRCh37/hg19 22q11.23(chr22:23650200-25066472)x3 copy number gain not provided [RCV000849234] Chr22:23650200..25066472 [GRCh37]
Chr22:22q11.23
pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:20732808-25193541)x3 copy number gain not provided [RCV001007169] Chr22:20732808..25193541 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.23(chr22:23650871-25066472)x3 copy number gain not provided [RCV000845636] Chr22:23650871..25066472 [GRCh37]
Chr22:22q11.23
pathogenic
GRCh37/hg19 22q11.23(chr22:23698818-25042987)x3 copy number gain not provided [RCV000849671] Chr22:23698818..25042987 [GRCh37]
Chr22:22q11.23
pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22962196-25059631)x3 copy number gain not provided [RCV000847639] Chr22:22962196..25059631 [GRCh37]
Chr22:22q11.22-11.23
pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22962196-25145601)x3 copy number gain not provided [RCV000845609] Chr22:22962196..25145601 [GRCh37]
Chr22:22q11.22-11.23
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22962195-25002659)x3 copy number gain not provided [RCV000846628] Chr22:22962195..25002659 [GRCh37]
Chr22:22q11.22-11.23
pathogenic
NM_019601.4(SUSD2):c.1164C>T (p.Arg388=) single nucleotide variant not provided [RCV000886151] Chr22:24185754 [GRCh38]
Chr22:24581722 [GRCh37]
Chr22:22q11.23
likely benign
NM_019601.4(SUSD2):c.1047C>T (p.His349=) single nucleotide variant not provided [RCV000971241] Chr22:24185548 [GRCh38]
Chr22:24581516 [GRCh37]
Chr22:22q11.23
benign
NM_019601.4(SUSD2):c.2259C>T (p.Asn753=) single nucleotide variant not provided [RCV000958179] Chr22:24188053 [GRCh38]
Chr22:24584021 [GRCh37]
Chr22:22q11.23
benign
NM_019601.4(SUSD2):c.492G>A (p.Thr164=) single nucleotide variant not provided [RCV000955850] Chr22:24184188 [GRCh38]
Chr22:24580156 [GRCh37]
Chr22:22q11.23
benign
GRCh37/hg19 22q11.1-12.1(chr22:16888899-27657507)x3 copy number gain not provided [RCV001007163] Chr22:16888899..27657507 [GRCh37]
Chr22:22q11.1-12.1
pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16888899-26483608)x3 copy number gain Cat eye syndrome [RCV001263219] Chr22:16888899..26483608 [GRCh37]
Chr22:22q11.1-12.1
pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22953514-25002483)x3 copy number gain not provided [RCV001007174] Chr22:22953514..25002483 [GRCh37]
Chr22:22q11.22-11.23
pathogenic|likely pathogenic
GRCh37/hg19 22q11.23-12.1(chr22:24311474-26075188)x3 copy number gain See cases [RCV001007417] Chr22:24311474..26075188 [GRCh37]
Chr22:22q11.23-12.1
uncertain significance
NC_000022.10:g.(?_24129357)_(24836024_?)del deletion not provided [RCV001031302] Chr22:24129357..24836024 [GRCh37]
Chr22:22q11.23
pathogenic
GRCh37/hg19 22q11.23(chr22:23650871-25066472)x3 copy number gain not provided [RCV001007176] Chr22:23650871..25066472 [GRCh37]
Chr22:22q11.23
pathogenic
GRCh37/hg19 22q11.23(chr22:23720181-25066484)x3 copy number gain See cases [RCV001263027] Chr22:23720181..25066484 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.22-11.23(chr22:23258368-25059827)x3 copy number gain not provided [RCV001258774] Chr22:23258368..25059827 [GRCh37]
Chr22:22q11.22-11.23
pathogenic
GRCh37/hg19 22q11.23(chr22:23650873-25043046)x3 copy number gain not provided [RCV001258776] Chr22:23650873..25043046 [GRCh37]
Chr22:22q11.23
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NC_000022.10:g.(?_24129357)_(24836024_?)dup duplication not provided [RCV001324555] Chr22:24129357..24836024 [GRCh37]
Chr22:22q11.23
uncertain significance
NC_000022.10:g.(?_23915453)_(24921762_?)dup duplication Agammaglobulinemia 2, autosomal recessive [RCV001301073] Chr22:23915453..24921762 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_019601.4(SUSD2):c.1397A>G (p.Asn466Ser) single nucleotide variant not provided [RCV001653407] Chr22:24186073 [GRCh38]
Chr22:24582041 [GRCh37]
Chr22:22q11.23
benign
GRCh37/hg19 22q11.23(chr22:23689960-25000632)x3 copy number gain not provided [RCV001795844] Chr22:23689960..25000632 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.21-11.23(chr22:21465661-24631791)x3 copy number gain not provided [RCV001836553] Chr22:21465661..24631791 [GRCh37]
Chr22:22q11.21-11.23
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30667 AgrOrtholog
COSMIC SUSD2 COSMIC
Ensembl Genes ENSG00000099994 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000351075 ENTREZGENE
  ENSP00000351075.3 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000358321 ENTREZGENE
  ENST00000358321.4 UniProtKB/Swiss-Prot
GTEx ENSG00000099994 GTEx
HGNC ID HGNC:30667 ENTREZGENE
Human Proteome Map SUSD2 Human Proteome Map
InterPro AMOP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Somatomedin_B-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Somatomedin_B_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sushi/SCR/CCP_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sushi_SCR_CCP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWF_type-D UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:56241 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 56241 ENTREZGENE
OMIM 615825 OMIM
Pfam AMOP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Somatomedin_B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sushi UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134942464 PharmGKB
PROSITE AMOP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SMB_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SMB_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SUSHI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWFD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART AMOP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CCP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57535 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF90188 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A140VJW3 ENTREZGENE, UniProtKB/TrEMBL
  Q9H5Y6 ENTREZGENE
  Q9UGT4 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q9H5Y6 UniProtKB/Swiss-Prot