FAM3B (FAM3 metabolism regulating signaling molecule B) - Rat Genome Database

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Gene: FAM3B (FAM3 metabolism regulating signaling molecule B) Homo sapiens
Analyze
Symbol: FAM3B
Name: FAM3 metabolism regulating signaling molecule B
RGD ID: 1323237
HGNC Page HGNC:1253
Description: Predicted to enable carbohydrate binding activity and cytokine activity. Involved in insulin secretion. Located in extracellular exosome.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: 2-21; C21orf11; C21orf76; cytokine-like protein 2-21; D21M16SJHU19e; family with sequence similarity 3 member B; family with sequence similarity 3, member B; ORF9; pancreatic derived factor; pancreatic-derived factor; PANDER; PRED44
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382141,304,242 - 41,357,727 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2141,304,212 - 41,357,727 (+)EnsemblGRCh38hg38GRCh38
GRCh372142,688,728 - 42,729,654 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362141,610,531 - 41,651,524 (+)NCBINCBI36Build 36hg18NCBI36
Celera2127,886,894 - 27,927,901 (+)NCBICelera
Cytogenetic Map21q22.3NCBI
HuRef2128,157,559 - 28,198,557 (+)NCBIHuRef
CHM1_12142,249,456 - 42,290,457 (+)NCBICHM1_1
T2T-CHM13v2.02139,692,606 - 39,746,338 (+)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
Autism  (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
Additional References at PubMed
PMID:10830953   PMID:11707072   PMID:12160727   PMID:12477932   PMID:12975309   PMID:15489334   PMID:16114871   PMID:16249448   PMID:17255364   PMID:19199708   PMID:20237496   PMID:20379614  
PMID:21832049   PMID:21873635   PMID:23059759   PMID:23246487   PMID:23300138   PMID:23376485   PMID:23855304   PMID:23903356   PMID:24468680   PMID:24941225   PMID:26123584   PMID:27181109  
PMID:28161382   PMID:28514442   PMID:29357840   PMID:30565387   PMID:30982368   PMID:31615875   PMID:32296183   PMID:32442162   PMID:32814053   PMID:33961781   PMID:37105387   PMID:37847647  


Genomics

Comparative Map Data
FAM3B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382141,304,242 - 41,357,727 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2141,304,212 - 41,357,727 (+)EnsemblGRCh38hg38GRCh38
GRCh372142,688,728 - 42,729,654 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362141,610,531 - 41,651,524 (+)NCBINCBI36Build 36hg18NCBI36
Celera2127,886,894 - 27,927,901 (+)NCBICelera
Cytogenetic Map21q22.3NCBI
HuRef2128,157,559 - 28,198,557 (+)NCBIHuRef
CHM1_12142,249,456 - 42,290,457 (+)NCBICHM1_1
T2T-CHM13v2.02139,692,606 - 39,746,338 (+)NCBIT2T-CHM13v2.0
Fam3b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391697,272,165 - 97,306,136 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1697,272,165 - 97,316,016 (-)EnsemblGRCm39 Ensembl
GRCm381697,470,965 - 97,504,936 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1697,470,965 - 97,514,816 (-)EnsemblGRCm38mm10GRCm38
MGSCv371697,692,693 - 97,726,543 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361697,575,996 - 97,659,852 (-)NCBIMGSCv36mm8
Celera1698,531,405 - 98,565,114 (-)NCBICelera
Cytogenetic Map16C4NCBI
cM Map1657.47NCBI
Fam3b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81150,300,926 - 50,333,296 (-)NCBIGRCr8
mRatBN7.21136,831,532 - 36,863,902 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1136,831,532 - 36,869,713 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1145,480,008 - 45,512,453 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01138,151,386 - 38,183,828 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01137,311,313 - 37,343,761 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01137,922,308 - 37,993,279 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1137,922,292 - 37,993,207 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01141,429,763 - 41,503,454 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41137,470,404 - 37,505,705 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11137,528,141 - 37,558,745 (-)NCBI
Celera1136,718,301 - 36,749,239 (-)NCBICelera
Cytogenetic Map11q12NCBI
Fam3b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540740,914,239 - 40,932,177 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540740,914,408 - 40,939,850 (-)NCBIChiLan1.0ChiLan1.0
FAM3B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22237,396,847 - 37,438,869 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12132,251,107 - 32,293,169 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02127,650,185 - 27,692,249 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12140,979,149 - 41,020,089 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2140,979,149 - 41,020,089 (+)Ensemblpanpan1.1panPan2
FAM3B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13135,805,981 - 35,844,258 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3135,806,217 - 35,844,263 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3134,961,227 - 34,999,135 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03135,323,709 - 35,361,728 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3135,323,758 - 35,361,733 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13135,219,538 - 35,257,553 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03135,197,593 - 35,235,594 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03135,691,726 - 35,729,740 (+)NCBIUU_Cfam_GSD_1.0
Fam3b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440497135,149,735 - 35,178,093 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365002,289,687 - 2,318,977 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365002,289,795 - 2,317,616 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FAM3B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13204,752,196 - 204,796,777 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113204,746,338 - 204,796,792 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213215,061,989 - 215,072,431 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FAM3B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1285,211,126 - 85,277,034 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl285,223,553 - 85,277,839 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605413,075,832 - 13,129,760 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fam3b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474528,639,087 - 28,659,627 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474528,638,914 - 28,658,930 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FAM3B
17 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000050445] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1 copy number loss See cases [RCV000051022] Chr21:41285201..46670405 [GRCh38]
Chr21:42657128..48090317 [GRCh37]
Chr21:41578998..46914745 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:37135738-42434515)x1 copy number loss See cases [RCV000051047] Chr21:37135738..42434515 [GRCh38]
Chr21:38508038..43854625 [GRCh37]
Chr21:37429908..42727694 [NCBI36]
Chr21:21q22.13-22.3		 pathogenic
GRCh37/hg19 21q22.1-22.3(chr21:35527952-44298520)x1 copy number loss See cases [RCV000052807] Chr21:35527952..44298520 [GRCh37]
Chr21:34449822..43171589 [NCBI36]
Chr21:21q22.1-22.3		 pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:35027972-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|See cases [RCV000052836] Chr21:35027972..46670405 [GRCh38]
Chr21:36400269..48090317 [GRCh37]
Chr21:35322139..46914745 [NCBI36]
Chr21:21q22.12-22.3		 pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:38273492-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|See cases [RCV000052838] Chr21:38273492..46670405 [GRCh38]
Chr21:39645414..48090317 [GRCh37]
Chr21:38567284..46914745 [NCBI36]
Chr21:21q22.13-22.3		 pathogenic
GRCh38/hg38 21q22.2-22.3(chr21:40127825-46670546)x1 copy number loss See cases [RCV000052839] Chr21:40127825..46670546 [GRCh38]
Chr21:41499752..48090458 [GRCh37]
Chr21:40421622..46914886 [NCBI36]
Chr21:21q22.2-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053042] Chr21:7749532..46623792 [GRCh38]
Chr21:14595524..48043704 [GRCh37]
Chr21:13517395..46868132 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053043] Chr21:7749532..46623792 [GRCh38]
Chr21:14629063..48043704 [GRCh37]
Chr21:13550934..46868132 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3 copy number gain See cases [RCV000053045] Chr21:7749532..46670546 [GRCh38]
Chr21:15499647..48090458 [GRCh37]
Chr21:14421518..46914886 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053065] Chr21:7749532..46661140 [GRCh38]
Chr21:15499647..48081052 [GRCh37]
Chr21:14421518..46905480 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053067] Chr21:7749532..46661140 [GRCh38]
Chr21:15499847..48081052 [GRCh37]
Chr21:14421718..46905480 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053068] Chr21:7749532..46670405 [GRCh38]
Chr21:20655360..48090317 [GRCh37]
Chr21:19577231..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053039] Chr21:7749532..46623792 [GRCh38]
Chr21:14524963..48043704 [GRCh37]
Chr21:13446834..46868132 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053069] Chr21:7749532..46670405 [GRCh38]
Chr21:34423268..48090317 [GRCh37]
Chr21:33345138..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3 copy number gain See cases [RCV000053040] Chr21:7749532..46653090 [GRCh38]
Chr21:14539679..48073002 [GRCh37]
Chr21:13461550..46897430 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
NM_058186.3(FAM3B):c.346+147T>C single nucleotide variant Lung cancer [RCV000101945] Chr21:41344681 [GRCh38]
Chr21:42716608 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3 copy number gain See cases [RCV000133676] Chr21:7749532..42971047 [GRCh38]
Chr21:15499847..44391157 [GRCh37]
Chr21:14421718..43264226 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3 copy number gain See cases [RCV000134727] Chr21:7749532..46653084 [GRCh38]
Chr21:15485038..48072996 [GRCh37]
Chr21:14406909..46897424 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3 copy number gain See cases [RCV000134509] Chr21:7749532..46649831 [GRCh38]
Chr21:14577835..48069743 [GRCh37]
Chr21:13499706..46894171 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134119] Chr21:7749532..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000135310] Chr21:7749532..46670346 [GRCh38]
Chr21:34111831..48090258 [GRCh37]
Chr21:33033702..46914686 [NCBI36]
Chr21:21q22.11-22.3		 pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3 copy number gain See cases [RCV000134972] Chr21:36206067..46670405 [GRCh38]
Chr21:37578365..48090317 [GRCh37]
Chr21:36500235..46914745 [NCBI36]
Chr21:21q22.12-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3 copy number gain See cases [RCV000134836] Chr21:7749532..46664250 [GRCh38]
Chr21:15485038..48084162 [GRCh37]
Chr21:14406909..46908590 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134842] Chr21:7749532..46670440 [GRCh38]
Chr21:15513244..48090352 [GRCh37]
Chr21:14435115..46914780 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3 copy number gain See cases [RCV000135448] Chr21:7749532..46660999 [GRCh38]
Chr21:15499847..48080911 [GRCh37]
Chr21:14421718..46905339 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3 copy number gain See cases [RCV000136142] Chr21:36519173..46670405 [GRCh38]
Chr21:37891471..48090317 [GRCh37]
Chr21:36813341..46914745 [NCBI36]
Chr21:21q22.13-22.3		 pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1 copy number loss See cases [RCV000136828] Chr21:34789953..46636538 [GRCh38]
Chr21:36162250..48056450 [GRCh37]
Chr21:35084120..46880878 [NCBI36]
Chr21:21q22.12-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137337] Chr21:7749532..46671060 [GRCh38]
Chr21:10697897..48090972 [GRCh37]
Chr21:1..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137255] Chr21:7749532..46671060 [GRCh38]
Chr21:35319225..48090972 [GRCh37]
Chr21:34241095..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138216] Chr21:7749532..46671060 [GRCh38]
Chr21:10944001..48090972 [GRCh37]
Chr21:9965872..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1 copy number loss See cases [RCV000138096] Chr21:37669628..46671060 [GRCh38]
Chr21:39041930..48090972 [GRCh37]
Chr21:37963800..46915400 [NCBI36]
Chr21:21q22.13-22.3		 pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3 copy number gain See cases [RCV000138164] Chr21:36066991..46671060 [GRCh38]
Chr21:37439289..48090972 [GRCh37]
Chr21:36361159..46915400 [NCBI36]
Chr21:21q22.12-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138436] Chr21:7749532..46671060 [GRCh38]
Chr21:15451032..48090972 [GRCh37]
Chr21:14372903..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1 copy number loss See cases [RCV000139158] Chr21:40296025..46670440 [GRCh38]
Chr21:41667952..48090352 [GRCh37]
Chr21:40589822..46914780 [NCBI36]
Chr21:21q22.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000140103] Chr21:7749532..46670346 [GRCh38]
Chr21:14577894..48090258 [GRCh37]
Chr21:13499765..46914686 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3 copy number gain See cases [RCV000141346] Chr21:7749532..46698247 [GRCh38]
Chr21:14577835..48118159 [GRCh37]
Chr21:13499706..46942587 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000141827] Chr21:7749532..46677460 [GRCh38]
Chr21:28285299..48097372 [GRCh37]
Chr21:27207170..46921800 [NCBI36]
Chr21:21q21.3-22.3		 uncertain significance
GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1 copy number loss See cases [RCV000142311] Chr21:38816399..46677460 [GRCh38]
Chr21:40188323..48097372 [GRCh37]
Chr21:39110193..46921800 [NCBI36]
Chr21:21q22.2-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1 copy number loss See cases [RCV000142427] Chr21:7817158..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.2-22.3(chr21:39375937-44246148)x1 copy number loss See cases [RCV000142650] Chr21:39375937..44246148 [GRCh38]
Chr21:40747863..45666031 [GRCh37]
Chr21:39669733..44490459 [NCBI36]
Chr21:21q22.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143376] Chr21:7749532..46677460 [GRCh38]
Chr21:15006458..48097372 [GRCh37]
Chr21:13928329..46921800 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460) copy number gain See cases [RCV000143160] Chr21:7749532..46677460 [GRCh38]
Chr21:14386013..48097372 [GRCh37]
Chr21:13307884..46921800 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143120] Chr21:7749532..46677460 [GRCh38]
Chr21:15006457..48097372 [GRCh37]
Chr21:13928328..46921800 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000148131] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1 copy number loss See cases [RCV000239948] Chr21:15538655..48080926 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:39841248-44652723)x3 copy number gain See cases [RCV000239953] Chr21:39841248..44652723 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3 copy number gain See cases [RCV000240397] Chr21:15410701..48090317 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-43598570)x3 copy number gain See cases [RCV000446716] Chr21:15006457..43598570 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:38790552-43619940)x1 copy number loss See cases [RCV000446516] Chr21:38790552..43619940 [GRCh37]
Chr21:21q22.13-22.3		 pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372)x1 copy number loss See cases [RCV000448694] Chr21:42410406..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3 copy number gain See cases [RCV000447884] Chr21:14771770..48080867 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-44827632)x3 copy number gain See cases [RCV000448199] Chr21:15006457..44827632 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)x3 copy number gain See cases [RCV000447729] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain See cases [RCV000447749] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:38699545-48097372)x1 copy number loss See cases [RCV000510684] Chr21:38699545..48097372 [GRCh37]
Chr21:21q22.13-22.3		 pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:41254101-48097372)x1 copy number loss See cases [RCV000511808] Chr21:41254101..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372) copy number gain See cases [RCV000511589] Chr21:15006458..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:42661850-43590844)x3 copy number gain See cases [RCV000511842] Chr21:42661850..43590844 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.13-22.3(chr21:37914123-48097372)x1 copy number loss See cases [RCV000510798] Chr21:37914123..48097372 [GRCh37]
Chr21:21q22.13-22.3		 pathogenic
NM_058186.4(FAM3B):c.185A>G (p.Lys62Arg) single nucleotide variant not specified [RCV004295965] Chr21:41338399 [GRCh38]
Chr21:42710326 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.2-22.3(chr21:42335622-48097372)x1 copy number loss not provided [RCV000684165] Chr21:42335622..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:42714287-42943077)x1 copy number loss not provided [RCV000848855] Chr21:42714287..42943077 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.9:g.(?_38981673)_(41568791_?)del deletion Autism [RCV000754228] Chr21:38981673..41568791 [GRCh38]
Chr21:21q22.2-22.3		 likely pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10827533-48100155)x3 copy number gain not provided [RCV000741419] Chr21:10827533..48100155 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:40364245-44169928)x1 copy number loss not provided [RCV000741567] Chr21:40364245..44169928 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10699330-48117896)x3 copy number gain not provided [RCV000741413] Chr21:10699330..48117896 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10704198-48117896)x3 copy number gain not provided [RCV000741415] Chr21:10704198..48117896 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10824040-48090629)x3 copy number gain not provided [RCV000741418] Chr21:10824040..48090629 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
NM_058186.4(FAM3B):c.123C>G (p.Ala41=) single nucleotide variant not provided [RCV000948093] Chr21:41323026 [GRCh38]
Chr21:42694953 [GRCh37]
Chr21:21q22.3		 benign
NM_058186.4(FAM3B):c.163+10G>A single nucleotide variant not provided [RCV000882668] Chr21:41323076 [GRCh38]
Chr21:42695003 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21q22.2-22.3(chr21:41537095-46914745) copy number loss not provided [RCV000767626] Chr21:41537095..46914745 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787405] Chr21:42300424..43682911 [GRCh37]
Chr21:21q22.2-22.3		 uncertain significance
GRCh37/hg19 21q22.13-22.3(chr21:39410438-45171756)x1 copy number loss not provided [RCV001007132] Chr21:39410438..45171756 [GRCh37]
Chr21:21q22.13-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV000846937] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NM_058186.4(FAM3B):c.48C>T (p.Phe16=) single nucleotide variant not provided [RCV000887208] Chr21:41322951 [GRCh38]
Chr21:42694878 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21q22.2-22.3(chr21:42044877-48100155)x3 copy number gain See cases [RCV001007433] Chr21:42044877..48100155 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:42662220-42799124)x1 copy number loss not provided [RCV001259414] Chr21:42662220..42799124 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3 copy number gain Down syndrome [RCV002284306] Chr21:14420615..48080926 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3 copy number gain See cases [RCV001263025] Chr21:14629063..48090317 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:42679089-48097372) copy number loss Delayed speech and language development [RCV002280704] Chr21:42679089..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3 copy number gain See cases [RCV001780078] Chr21:1..48129895 [GRCh37]
Chr21:21p13-q22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372) copy number gain not specified [RCV002052725] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372) copy number loss not specified [RCV002052739] Chr21:42410406..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372) copy number gain not specified [RCV002052724] Chr21:15041209..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV001829203] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372) copy number gain not specified [RCV002052723] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:42046399-45109188)x1 copy number loss not provided [RCV002472503] Chr21:42046399..45109188 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
NM_058186.4(FAM3B):c.619A>T (p.Ile207Phe) single nucleotide variant not specified [RCV004069155] Chr21:41357108 [GRCh38]
Chr21:42729035 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.2-22.3(chr21:40681179-48097372)x1 copy number loss not provided [RCV003483381] Chr21:40681179..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3 copy number gain not provided [RCV003485218] Chr21:15006458..45674637 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3 copy number gain not provided [RCV003485222] Chr21:33015681..48097372 [GRCh37]
Chr21:21q22.11-22.3		 pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:40965330-43116823)x3 copy number gain not provided [RCV003485224] Chr21:40965330..43116823 [GRCh37]
Chr21:21q22.2-22.3		 uncertain significance
GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3 copy number gain not specified [RCV003986149] Chr21:30685776..48097372 [GRCh37]
Chr21:21q21.3-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3 copy number gain not specified [RCV003986160] Chr21:15023401..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1 copy number loss not specified [RCV003986157] Chr21:35872675..48097372 [GRCh37]
Chr21:21q22.12-22.3		 pathogenic
GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3 copy number gain not specified [RCV003986158] Chr21:34092685..48097372 [GRCh37]
Chr21:21q22.11-22.3		 pathogenic
GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3 copy number gain not specified [RCV003986152] Chr21:26929299..48097372 [GRCh37]
Chr21:21q21.3-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3 copy number gain not provided [RCV004577449] Chr21:15380398..48100790 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NM_058186.4(FAM3B):c.566T>C (p.Val189Ala) single nucleotide variant not specified [RCV004625533] Chr21:41348672 [GRCh38]
Chr21:42720599 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_058186.4(FAM3B):c.584G>T (p.Gly195Val) single nucleotide variant not specified [RCV004625532] Chr21:41348690 [GRCh38]
Chr21:42720617 [GRCh37]
Chr21:21q22.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:675
Count of miRNA genes:325
Interacting mature miRNAs:337
Transcripts:ENST00000357985, ENST00000398646, ENST00000398647, ENST00000398652, ENST00000479810, ENST00000518236
Prediction methods:Microtar, 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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407394447GWAS1043423_Hurate measurement, spine bone mineral density QTL GWAS1043423 (human)0.000008urate measurement, spine bone mineral densitybone mineral density (CMO:0001226)214134216141342162Human
406955976GWAS604952_Hprotein FAM3B measurement QTL GWAS604952 (human)3e-137protein FAM3B measurement214134918041349181Human
2303081MAMTS49_HMammary tumor susceptibility QTL 49 (human)1.72Mammary tumor susceptibility211795044843950448Human
406948241GWAS597217_Hprotein measurement QTL GWAS597217 (human)2e-12protein measurement214131771041317711Human
407022942GWAS671918_Hcancer biomarker measurement QTL GWAS671918 (human)3e-22cancer biomarker measurement214132698041326981Human
407017119GWAS666095_Hblood protein measurement QTL GWAS666095 (human)3e-43blood protein measurementblood protein measurement (CMO:0000028)214134523441345235Human
407321446GWAS970422_Hprotein FAM3B measurement QTL GWAS970422 (human)5e-22protein FAM3B measurement214131771041317711Human
407293159GWAS942135_Hprotein FAM3B measurement QTL GWAS942135 (human)6e-17protein FAM3B measurement214132529441325295Human
407321445GWAS970421_Hprotein FAM3B measurement QTL GWAS970421 (human)8e-27protein FAM3B measurement214134354841343549Human
407321251GWAS970227_Hprotein FAM3B measurement QTL GWAS970227 (human)6e-33protein FAM3B measurement214132274041322741Human
407213921GWAS862897_Hblood protein measurement QTL GWAS862897 (human)2e-42blood protein measurementblood protein measurement (CMO:0000028)214132294341322944Human
407213920GWAS862896_Hblood protein measurement QTL GWAS862896 (human)5e-35blood protein measurementblood protein measurement (CMO:0000028)214132578741325788Human
407321250GWAS970226_Hprotein FAM3B measurement QTL GWAS970226 (human)6e-133protein FAM3B measurement214134633541346336Human
407213922GWAS862898_Hblood protein measurement QTL GWAS862898 (human)2e-100blood protein measurementblood protein measurement (CMO:0000028)214134633541346336Human
407293164GWAS942140_Hprotein FAM3B measurement QTL GWAS942140 (human)4e-12protein FAM3B measurement214135650641356507Human
406975020GWAS623996_Hserum carcinoembryonic antigen measurement QTL GWAS623996 (human)2e-08serum carcinoembryonic antigen measurement214132698041326981Human
407293163GWAS942139_Hprotein FAM3B measurement QTL GWAS942139 (human)1e-12protein FAM3B measurement214134563141345632Human
406955311GWAS604287_Hprotein FAM3B measurement QTL GWAS604287 (human)1e-89protein FAM3B measurement214132274041322741Human
406955312GWAS604288_Hprotein FAM3B measurement QTL GWAS604288 (human)4e-22protein FAM3B measurement214132294341322944Human
406892338GWAS541314_Hprotein FAM3B measurement QTL GWAS541314 (human)2e-52protein FAM3B measurement214134633541346336Human
406892339GWAS541315_Hprotein FAM3B measurement QTL GWAS541315 (human)3e-32protein FAM3B measurement214132274041322741Human
406892340GWAS541316_Hprotein FAM3B measurement QTL GWAS541316 (human)8e-26protein FAM3B measurement214132294341322944Human
406892341GWAS541317_Hprotein FAM3B measurement QTL GWAS541317 (human)4e-78protein FAM3B measurement214134994241349943Human
406892342GWAS541318_Hprotein FAM3B measurement QTL GWAS541318 (human)3e-50protein FAM3B measurement214132274041322741Human
407280752GWAS929728_Hprotein FAM3B measurement QTL GWAS929728 (human)2e-39protein FAM3B measurement214134633541346336Human
406892343GWAS541319_Hprotein FAM3B measurement QTL GWAS541319 (human)3e-30protein FAM3B measurement214132294341322944Human
406955894GWAS604870_Hprotein FAM3B measurement QTL GWAS604870 (human)5e-66protein FAM3B measurement214134633541346336Human
406955961GWAS604937_Hprotein FAM3B measurement QTL GWAS604937 (human)6e-54protein FAM3B measurement214132294341322944Human
406955896GWAS604872_Hprotein FAM3B measurement QTL GWAS604872 (human)1e-31protein FAM3B measurement214134354841343549Human
407005629GWAS654605_Hself reported educational attainment QTL GWAS654605 (human)3e-08self reported educational attainment214131700441317005Human

Markers in Region
SHGC-52452  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372142,700,122 - 42,700,353UniSTSGRCh37
Build 362141,621,992 - 41,622,223RGDNCBI36
Celera2127,898,355 - 27,898,586RGD
Cytogenetic Map21q22.3UniSTS
HuRef2128,169,020 - 28,169,251UniSTS
GeneMap99-G3 RH Map211428.0UniSTS
D21S64  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372142,723,966 - 42,724,131UniSTSGRCh37
Build 362141,645,836 - 41,646,001RGDNCBI36
Celera2127,922,200 - 27,922,365RGD
Cytogenetic Map21q22.3UniSTS
HuRef2128,192,857 - 28,193,022UniSTS
SHGC-132814  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372142,700,006 - 42,700,279UniSTSGRCh37
Build 362141,621,876 - 41,622,149RGDNCBI36
Celera2127,898,239 - 27,898,512RGD
Cytogenetic Map21q22.3UniSTS
HuRef2128,168,904 - 28,169,177UniSTS
TNG Radiation Hybrid Map2116306.0UniSTS
D21S1224  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372142,727,931 - 42,728,078UniSTSGRCh37
Build 362141,649,801 - 41,649,948RGDNCBI36
Celera2127,926,178 - 27,926,325RGD
Cytogenetic Map21q22.3UniSTS
HuRef2128,196,834 - 28,196,981UniSTS
Stanford-G3 RH Map211428.0UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1199 2390 2594 2171 4471 1663 2231 4 601 1479 440 2238 6445 5880 34 3286 1 806 1679 1521 169 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_058186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_206964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007067791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_937526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF375989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF494379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ409094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL773578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY040086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC057829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF514643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI712971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS488895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000357985   ⟹   ENSP00000350673
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2141,316,801 - 41,357,727 (+)Ensembl
Ensembl Acc Id: ENST00000398646   ⟹   ENSP00000381641
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2141,322,820 - 41,357,431 (+)Ensembl
Ensembl Acc Id: ENST00000398647   ⟹   ENSP00000381642
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2141,316,814 - 41,357,431 (+)Ensembl
Ensembl Acc Id: ENST00000398652   ⟹   ENSP00000381646
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2141,316,814 - 41,357,431 (+)Ensembl
Ensembl Acc Id: ENST00000479810
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2141,304,212 - 41,357,431 (+)Ensembl
Ensembl Acc Id: ENST00000518236
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2141,304,250 - 41,346,349 (+)Ensembl
RefSeq Acc Id: NM_058186   ⟹   NP_478066
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382141,316,801 - 41,357,727 (+)NCBI
GRCh372142,688,661 - 42,729,654 (+)RGD
Build 362141,610,531 - 41,651,524 (+)NCBI Archive
Celera2127,886,894 - 27,927,901 (+)RGD
HuRef2128,157,559 - 28,198,557 (+)ENTREZGENE
CHM1_12142,249,456 - 42,290,457 (+)NCBI
T2T-CHM13v2.02139,705,395 - 39,746,338 (+)NCBI
Sequence:
RefSeq Acc Id: NM_206964   ⟹   NP_996847
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382141,316,801 - 41,357,727 (+)NCBI
GRCh372142,688,661 - 42,729,654 (+)RGD
Build 362141,610,531 - 41,651,524 (+)NCBI Archive
Celera2127,886,894 - 27,927,901 (+)RGD
HuRef2128,157,559 - 28,198,557 (+)ENTREZGENE
CHM1_12142,249,456 - 42,290,457 (+)NCBI
T2T-CHM13v2.02139,705,395 - 39,746,338 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011529648   ⟹   XP_011527950
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382141,320,822 - 41,357,727 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011529649   ⟹   XP_011527951
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382141,304,242 - 41,357,727 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054324688   ⟹   XP_054180663
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02139,709,416 - 39,746,338 (+)NCBI
RefSeq Acc Id: XM_054324689   ⟹   XP_054180664
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02139,692,606 - 39,746,338 (+)NCBI
RefSeq Acc Id: XR_007067791
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382141,320,337 - 41,347,100 (+)NCBI
RefSeq Acc Id: XR_008485341
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02139,708,931 - 39,735,699 (+)NCBI
RefSeq Acc Id: NP_478066   ⟸   NM_058186
- Peptide Label: isoform a precursor
- UniProtKB: P58499 (UniProtKB/Swiss-Prot),   A8MTF8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_996847   ⟸   NM_206964
- Peptide Label: isoform b
- UniProtKB: P58499 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011527951   ⟸   XM_011529649
- Peptide Label: isoform X2
- UniProtKB: A8MTF8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011527950   ⟸   XM_011529648
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSP00000381646   ⟸   ENST00000398652
Ensembl Acc Id: ENSP00000381641   ⟸   ENST00000398646
Ensembl Acc Id: ENSP00000381642   ⟸   ENST00000398647
Ensembl Acc Id: ENSP00000350673   ⟸   ENST00000357985
RefSeq Acc Id: XP_054180664   ⟸   XM_054324689
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054180663   ⟸   XM_054324688
- Peptide Label: isoform X1
Protein Domains
GG-type lectin   ILEI/PANDER

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P58499-F1-model_v2 AlphaFold P58499 1-235 view protein structure

Promoters
RGD ID:13602872
Promoter ID:EPDNEW_H27620
Type:initiation region
Name:FAM3B_1
Description:family with sequence similarity 3 member B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27621  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382141,316,638 - 41,316,698EPDNEW
RGD ID:13602874
Promoter ID:EPDNEW_H27621
Type:initiation region
Name:FAM3B_2
Description:family with sequence similarity 3 member B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27620  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382141,316,821 - 41,316,881EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1253 AgrOrtholog
COSMIC FAM3B COSMIC
Ensembl Genes ENSG00000183844 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000357985 ENTREZGENE
  ENST00000357985.7 UniProtKB/Swiss-Prot
  ENST00000398646 ENTREZGENE
  ENST00000398646.3 UniProtKB/TrEMBL
  ENST00000398647 ENTREZGENE
  ENST00000398647.7 UniProtKB/Swiss-Prot
  ENST00000398652.7 UniProtKB/Swiss-Prot
GTEx ENSG00000183844 GTEx
HGNC ID HGNC:1253 ENTREZGENE
Human Proteome Map FAM3B Human Proteome Map
InterPro FAM3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ILEI/PANDER_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:54097 UniProtKB/Swiss-Prot
NCBI Gene 54097 ENTREZGENE
OMIM 608617 OMIM
PANTHER PTHR14592 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR14592:SF2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ILEI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27979 PharmGKB
PROSITE GG_LECTIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8MTF8 ENTREZGENE, UniProtKB/TrEMBL
  FAM3B_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-09-24 FAM3B  FAM3 metabolism regulating signaling molecule B  FAM3B  family with sequence similarity 3 member B  Symbol and/or name change 5135510 APPROVED
2015-11-24 FAM3B  family with sequence similarity 3 member B    family with sequence similarity 3, member B  Symbol and/or name change 5135510 APPROVED