MUC3A (mucin 3A, cell surface associated) - Rat Genome Database

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Gene: MUC3A (mucin 3A, cell surface associated) Homo sapiens
Analyze
Symbol: MUC3A
Name: mucin 3A, cell surface associated
RGD ID: 736898
HGNC Page HGNC:7513
Description: Predicted to enable extracellular matrix constituent, lubricant activity. Predicted to be an extracellular matrix structural constituent. Predicted to be located in Golgi lumen; extracellular region; and plasma membrane. Biomarker of cholangiocarcinoma and pancreatic ductal carcinoma.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: intestinal mucin; intestinal mucin-3A; MUC-3A; MUC3; mucin; mucin 3; mucin 3, intestinal; mucin 3A, intestinal; mucin-3A
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Squirrel
Green Monkey
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Annotation category: suggests misassembly
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387100,949,534 - 100,968,347 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7100,949,534 - 100,968,347 (+)EnsemblGRCh38hg38GRCh38
GRCh377100,547,166 - 100,611,620 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367100,389,076 - 100,398,339 (+)NCBINCBI36Build 36hg18NCBI36
Celera795,277,878 - 95,298,517 (+)NCBICelera
Cytogenetic Map7q22.1NCBI
HuRef795,176,179 - 95,179,251 (+)NCBIHuRef
HuRef795,179,408 - 95,187,811 (+)NCBIHuRef
CHM1_17100,477,676 - 100,541,653 (+)NCBICHM1_1
T2T-CHM13v2.07102,189,627 - 102,215,508 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2799,906,691 - 99,912,723 (+)NCBI
CRA_TCAGchr7v2799,964,439 - 99,970,006 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Mucosal function in rat jejunum and ileum is altered by induction of colitis. Amit-Romach E, etal., Int J Mol Med. 2006 Oct;18(4):721-7.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Altered mucin gene expression in stone-containing intrahepatic bile ducts and cholangiocarcinomas. Lee KT and Liu TS, Dig Dis Sci. 2001 Oct;46(10):2166-72.
4. Proliferating cell nuclear antigen shRNA treatment attenuates chronic proliferative cholangitis in rats. Li FY, etal., J Gastroenterol Hepatol. 2009 May;24(5):920-6. Epub 2008 Nov 20.
5. Aberrant expression of MUC3 and MUC4 membrane-associated mucins and sialyl Le(x) antigen in pancreatic intraepithelial neoplasia. Park HU, etal., Pancreas. 2003 Apr;26(3):e48-54.
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. Pattern changes of mucin gene expression with pneumococcal otitis media. Tsuboi Y, etal., Int J Pediatr Otorhinolaryngol. 2001 Oct 19;61(1):23-30.
9. Altered expression of goblet cell- and mucin glycosylation-related genes in the intestinal epithelium during infection with the nematode Nippostrongylus brasiliensis in rat. Yamauchi J, etal., APMIS. 2006 Apr;114(4):270-8.
Additional References at PubMed
PMID:1362870   PMID:2393399   PMID:7778880   PMID:9334251   PMID:9847074   PMID:10405327   PMID:10512748   PMID:10737800   PMID:10973822   PMID:11289722   PMID:12853948   PMID:12958310  
PMID:14550470   PMID:18163520   PMID:18790050   PMID:18834073   PMID:19365834   PMID:19365837   PMID:20510874   PMID:25331947   PMID:27374181   PMID:30260046   PMID:33249400   PMID:33994852  
PMID:34326691   PMID:35655161   PMID:38069509  


Genomics

Comparative Map Data
MUC3A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387100,949,534 - 100,968,347 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7100,949,534 - 100,968,347 (+)EnsemblGRCh38hg38GRCh38
GRCh377100,547,166 - 100,611,620 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367100,389,076 - 100,398,339 (+)NCBINCBI36Build 36hg18NCBI36
Celera795,277,878 - 95,298,517 (+)NCBICelera
Cytogenetic Map7q22.1NCBI
HuRef795,176,179 - 95,179,251 (+)NCBIHuRef
HuRef795,179,408 - 95,187,811 (+)NCBIHuRef
CHM1_17100,477,676 - 100,541,653 (+)NCBICHM1_1
T2T-CHM13v2.07102,189,627 - 102,215,508 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2799,906,691 - 99,912,723 (+)NCBI
CRA_TCAGchr7v2799,964,439 - 99,970,006 (+)NCBI
Muc3a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395137,243,263 - 137,276,564 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5137,243,270 - 137,246,852 (-)EnsemblGRCm39 Ensembl
GRCm385137,208,805 - 137,212,545 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5137,208,813 - 137,212,389 (-)EnsemblGRCm38mm10GRCm38
Celera5134,230,734 - 134,240,608 (-)NCBICelera
Cytogenetic Map5G2NCBI
Muc3a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81225,082,728 - 25,091,494 (+)NCBIGRCr8
mRatBN7.21219,450,679 - 19,454,753 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1219,446,094 - 19,460,522 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.01222,501,657 - 22,505,712 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01224,517,500 - 24,519,325 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera1221,247,977 - 21,254,491 (+)NCBICelera
Cytogenetic Map12q12NCBI
Muc3a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495557345,920 - 60,091 (-)NCBIChiLan1.0ChiLan1.0
MUC3A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26118,850,442 - 118,872,548 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan17167,115,071 - 167,137,177 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0792,974,006 - 92,993,990 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.17106,386,635 - 106,392,357 (+)NCBIpanpan1.1PanPan1.1panPan2
LOC101963142
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344133,130,911 - 133,134,822 (-)NCBIHiC_Itri_2
SpeTri2.0NW_004936543886,333 - 904,504 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MUC3A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Vero_WHO_p1.0NW_0236660704,051,293 - 4,057,607 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in MUC3A
24 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NC_000007.14:g.100964796G>A single nucleotide variant Malignant melanoma [RCV000067536] Chr7:100964796 [GRCh38]
Chr7:100607847 [GRCh37]
Chr7:100394567 [NCBI36]
Chr7:7q22.1
not provided
NC_000007.14:g.100965754T= single nucleotide variant Malignant melanoma [RCV000067537] Chr7:100965754 [GRCh38]
Chr7:100608779 [GRCh37]
Chr7:100395499 [NCBI36]
Chr7:7q22.1
not provided
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3 copy number gain See cases [RCV000053573] Chr7:98288474..101259804 [GRCh38]
Chr7:97917786..100903085 [GRCh37]
Chr7:97755722..100689805 [NCBI36]
Chr7:7q21.3-22.1
pathogenic
GRCh38/hg38 7q22.1(chr7:100419914-102482826)x1 copy number loss See cases [RCV000054155] Chr7:100419914..102482826 [GRCh38]
Chr7:100017537..102123273 [GRCh37]
Chr7:99855473..101910278 [NCBI36]
Chr7:7q22.1
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1 copy number loss See cases [RCV000135782] Chr7:99195836..102258175 [GRCh38]
Chr7:98793459..101718950 [GRCh37]
Chr7:98631395..101688175 [NCBI36]
Chr7:7q22.1
pathogenic|uncertain significance
NM_005960.1(MUC3A):c.8480C>T (p.Thr2827Ile) single nucleotide variant Hypertrichotic osteochondrodysplasia [RCV000202618] Chr7:100960259 [GRCh38]
Chr7:100552388 [GRCh37]
Chr7:7q22.1
pathogenic
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3
pathogenic
GRCh38/hg38 7q22.1(chr7:99932610-102473188)x3 copy number gain See cases [RCV000138109] Chr7:99932610..102473188 [GRCh38]
Chr7:99530233..102113635 [GRCh37]
Chr7:99368169..101900640 [NCBI36]
Chr7:7q22.1
uncertain significance
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 copy number gain See cases [RCV000447709] Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 copy number gain not provided [RCV000682911] Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3
pathogenic
GRCh37/hg19 7q22.1(chr7:98847725-102472176)x1 copy number loss not provided [RCV000682904] Chr7:98847725..102472176 [GRCh37]
Chr7:7q22.1
pathogenic
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Childhood apraxia of speech [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q22.1(chr7:100141861-100552714)x1 copy number loss not provided [RCV000746918] Chr7:100141861..100552714 [GRCh37]
Chr7:7q22.1
likely benign
GRCh37/hg19 7q22.1(chr7:100547278-100608375)x1 copy number loss not provided [RCV000746932] Chr7:100547278..100608375 [GRCh37]
Chr7:7q22.1
benign
GRCh37/hg19 7q22.1(chr7:100548960-100608375)x1 copy number loss not provided [RCV000746933] Chr7:100548960..100608375 [GRCh37]
Chr7:7q22.1
benign
GRCh37/hg19 7q22.1(chr7:100548960-100608694)x1 copy number loss not provided [RCV000746934] Chr7:100548960..100608694 [GRCh37]
Chr7:7q22.1
benign
GRCh37/hg19 7q22.1(chr7:100549592-100552371)x1 copy number loss not provided [RCV000746935] Chr7:100549592..100552371 [GRCh37]
Chr7:7q22.1
benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_005960.2(MUC3A):c.871del (p.Thr291fs) deletion Lung cancer [RCV002465193]|Small cell lung carcinoma [RCV002465192] Chr7:100952650 [GRCh38]
Chr7:100550290 [GRCh37]
Chr7:7q22.1
pathogenic
NM_005960.2(MUC3A):c.1613C>G (p.Ser538Cys) single nucleotide variant Lung cancer [RCV002465262] Chr7:100953392 [GRCh38]
Chr7:7q22.1
pathogenic
NM_005960.2(MUC3A):c.623_632del (p.Val208fs) deletion Small cell lung carcinoma [RCV002465321] Chr7:100952402..100952411 [GRCh38]
Chr7:100550042..100550051 [GRCh37]
Chr7:7q22.1
pathogenic
NM_005960.2(MUC3A):c.650_682del (p.Thr217_Glu227del) deletion Small cell lung carcinoma [RCV002465322] Chr7:100952428..100952460 [GRCh38]
Chr7:100550068..100550100 [GRCh37]
Chr7:7q22.1
pathogenic
NM_005960.2(MUC3A):c.1055_1056del (p.Ala352fs) deletion Lung cancer [RCV002465348] Chr7:100952834..100952835 [GRCh38]
Chr7:100550474..100550475 [GRCh37]
Chr7:7q22.1
pathogenic
NM_005960.2(MUC3A):c.906_907insGTAGTCACCAGTGGCACCATAA (p.Thr303fs) insertion Lung cancer [RCV002465266] Chr7:100952683..100952684 [GRCh38]
Chr7:100550323..100550324 [GRCh37]
Chr7:7q22.1
pathogenic
NM_005960.2(MUC3A):c.598_771del (p.Ile200_Ser257del) deletion Lung cancer [RCV002465326]|Small cell lung carcinoma [RCV002465325] Chr7:100952375..100952548 [GRCh38]
Chr7:100550015..100550188 [GRCh37]
Chr7:7q22.1
pathogenic
NM_005960.2(MUC3A):c.1037_1038insGT (p.Asp346fs) insertion Lung cancer [RCV002465354] Chr7:100952816..100952817 [GRCh38]
Chr7:100550456..100550457 [GRCh37]
Chr7:7q22.1
pathogenic
GRCh37/hg19 7q22.1(chr7:99593346-102470275)x1 copy number loss See cases [RCV001195072] Chr7:99593346..102470275 [GRCh37]
Chr7:7q22.1
likely pathogenic
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308) copy number loss not specified [RCV002053711] Chr7:99417471..111586308 [GRCh37]
Chr7:7q22.1-31.1
pathogenic
NC_000007.13:g.(?_98983338)_(100860555_?)del deletion not provided [RCV001877526] Chr7:98983338..100860555 [GRCh37]
Chr7:7q22.1
pathogenic|uncertain significance
NC_000007.13:g.(?_98507659)_(100860555_?)dup duplication not provided [RCV003113282] Chr7:98507659..100860555 [GRCh37]
Chr7:7q22.1
uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3
uncertain significance
NM_005960.2(MUC3A):c.873del (p.Ile292fs) deletion Lung cancer [RCV002465191]|Small cell lung carcinoma [RCV002465190] Chr7:100952651 [GRCh38]
Chr7:100550291 [GRCh37]
Chr7:7q22.1
pathogenic
NM_005960.2(MUC3A):c.637_643del (p.Thr213fs) deletion Lung cancer [RCV002465283]|Small cell lung carcinoma [RCV002465282] Chr7:100952416..100952422 [GRCh38]
Chr7:100550056..100550062 [GRCh37]
Chr7:7q22.1
pathogenic
NM_005960.2(MUC3A):c.1089_1091del (p.Glu364del) deletion Lung cancer [RCV002465223] Chr7:100952868..100952870 [GRCh38]
Chr7:100550508..100550510 [GRCh37]
Chr7:7q22.1
pathogenic
NM_005960.2(MUC3A):c.582_611del (p.Ala195_Thr204del) deletion Lung cancer [RCV002465268] Chr7:100952359..100952388 [GRCh38]
Chr7:100549999..100550028 [GRCh37]
Chr7:7q22.1
pathogenic
NM_005960.2(MUC3A):c.568_591del (p.Pro190_Glu197del) deletion Small cell lung carcinoma [RCV002465313] Chr7:100952347..100952370 [GRCh38]
Chr7:100549987..100550010 [GRCh37]
Chr7:7q22.1
pathogenic
NM_005960.2(MUC3A):c.6981G>A (p.Ser2327=) single nucleotide variant not provided [RCV003423684] Chr7:100958760 [GRCh38]
Chr7:100550889 [GRCh37]
Chr7:7q22.1
likely benign
GRCh37/hg19 7q22.1(chr7:99114000-101878272)x1 copy number loss not provided [RCV003482971] Chr7:99114000..101878272 [GRCh37]
Chr7:7q22.1
pathogenic
NM_005960.2(MUC3A):c.8697C>T (p.Leu2899=) single nucleotide variant not provided [RCV003423689] Chr7:100960476 [GRCh38]
Chr7:100552605 [GRCh37]
Chr7:7q22.1
likely benign
NM_005960.2(MUC3A):c.954G>A (p.Val318=) single nucleotide variant not provided [RCV003457514] Chr7:100952733 [GRCh38]
Chr7:100550373 [GRCh37]
Chr7:7q22.1
likely benign
GRCh37/hg19 7q22.1(chr7:100532371-101116321)x3 copy number gain not provided [RCV003484692] Chr7:100532371..101116321 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_005960.2(MUC3A):c.7248T>A (p.Thr2416=) single nucleotide variant not provided [RCV003423687] Chr7:100959027 [GRCh38]
Chr7:100551156 [GRCh37]
Chr7:7q22.1
likely benign
NM_005960.2(MUC3A):c.948C>A (p.Thr316=) single nucleotide variant not provided [RCV003433999] Chr7:100952727 [GRCh38]
Chr7:100550367 [GRCh37]
Chr7:7q22.1
likely benign
NM_005960.2(MUC3A):c.1095T>C (p.Thr365=) single nucleotide variant not provided [RCV003434000] Chr7:100952874 [GRCh38]
Chr7:100550514 [GRCh37]
Chr7:7q22.1
likely benign
NM_005960.2(MUC3A):c.6789= (p.Thr2263=) variation not provided [RCV003434001] Chr7:100958568 [GRCh38]
Chr7:100550697 [GRCh37]
Chr7:7q22.1
likely benign
NM_005960.2(MUC3A):c.8173G>A (p.Ala2725Thr) single nucleotide variant not provided [RCV003434006] Chr7:100959952 [GRCh38]
Chr7:100552081 [GRCh37]
Chr7:7q22.1
likely benign
NM_005960.2(MUC3A):c.1188C>A (p.Ser396=) single nucleotide variant not provided [RCV003423683] Chr7:100952967 [GRCh38]
Chr7:100550607 [GRCh37]
Chr7:7q22.1
likely benign
NM_005960.2(MUC3A):c.7221T>C (p.Pro2407=) single nucleotide variant not provided [RCV003423686] Chr7:100959000 [GRCh38]
Chr7:100551129 [GRCh37]
Chr7:7q22.1
likely benign
NM_005960.2(MUC3A):c.7146T>C (p.Thr2382=) single nucleotide variant not provided [RCV003434004] Chr7:100958925 [GRCh38]
Chr7:100551054 [GRCh37]
Chr7:7q22.1
likely benign
NM_005960.2(MUC3A):c.7824G>A (p.Thr2608=) single nucleotide variant not provided [RCV003434005] Chr7:100959603 [GRCh38]
Chr7:100551732 [GRCh37]
Chr7:7q22.1
likely benign
NM_005960.2(MUC3A):c.1125A>C (p.Pro375=) single nucleotide variant not provided [RCV003423682] Chr7:100952904 [GRCh38]
Chr7:100550544 [GRCh37]
Chr7:7q22.1
likely benign
NM_005960.2(MUC3A):c.7564C>A (p.Arg2522=) single nucleotide variant not provided [RCV003423688] Chr7:100959343 [GRCh38]
Chr7:100551472 [GRCh37]
Chr7:7q22.1
likely benign
NM_005960.2(MUC3A):c.7134A>G (p.Ser2378=) single nucleotide variant not provided [RCV003423685] Chr7:100958913 [GRCh38]
Chr7:100551042 [GRCh37]
Chr7:7q22.1
likely benign
NM_005960.2(MUC3A):c.7008C>T (p.His2336=) single nucleotide variant not provided [RCV003434002] Chr7:100958787 [GRCh38]
Chr7:100550916 [GRCh37]
Chr7:7q22.1
likely benign
NM_005960.2(MUC3A):c.7131T>C (p.Ser2377=) single nucleotide variant not provided [RCV003434003] Chr7:100958910 [GRCh38]
Chr7:100551039 [GRCh37]
Chr7:7q22.1
likely benign
NM_005960.2(MUC3A):c.8304C>T (p.Pro2768=) single nucleotide variant not provided [RCV003434007] Chr7:100960083 [GRCh38]
Chr7:100552212 [GRCh37]
Chr7:7q22.1
likely benign
NM_005960.2(MUC3A):c.9474G>T (p.Thr3158=) single nucleotide variant not provided [RCV003434008] Chr7:100965729 [GRCh38]
Chr7:100608754 [GRCh37]
Chr7:7q22.1
likely benign
GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1 copy number loss not specified [RCV003986701] Chr7:98396469..102108193 [GRCh37]
Chr7:7q22.1
likely pathogenic
GRCh37/hg19 7q22.1(chr7:100454649-101886704)x1 copy number loss not specified [RCV003986697] Chr7:100454649..101886704 [GRCh37]
Chr7:7q22.1
pathogenic
NM_005960.2(MUC3A):c.9579G>A (p.Gln3193=) single nucleotide variant not provided [RCV003886930] Chr7:100965834 [GRCh38]
Chr7:100608859 [GRCh37]
Chr7:7q22.1
likely benign
NM_005960.2(MUC3A):c.9378C>A (p.Ser3126=) single nucleotide variant not provided [RCV003884878] Chr7:100964839 [GRCh38]
Chr7:100607890 [GRCh37]
Chr7:7q22.1
likely benign
NC_000007.13:g.(?_94024344)_(100860555_?)del deletion not provided [RCV004578536] Chr7:94024344..100860555 [GRCh37]
Chr7:7q21.3-22.1
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1963
Count of miRNA genes:799
Interacting mature miRNAs:917
Transcripts:ENST00000319509, ENST00000414964, ENST00000422757, ENST00000480291, ENST00000483133, ENST00000483366
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597312459GWAS1408533_Hbody height QTL GWAS1408533 (human)8e-13body height (VT:0001253)body height (CMO:0000106)7100956802100956803Human
596978386GWAS1097905_Hbody height QTL GWAS1097905 (human)8e-13body height (VT:0001253)body height (CMO:0000106)7100956802100956803Human
597174998GWAS1271072_Hprotein measurement QTL GWAS1271072 (human)3e-19protein measurement7100960122100960123Human
597428499GWAS1524573_Hnon-small cell lung carcinoma QTL GWAS1524573 (human)9e-08non-small cell lung carcinoma7100965904100965905Human

Markers in Region
D7S3100  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377100,606,076 - 100,606,277UniSTSGRCh37
GRCh377100,554,860 - 100,555,061UniSTSGRCh37
Build 367100,392,796 - 100,392,997RGDNCBI36
Celera795,293,247 - 95,293,448RGD
Celera795,602,813 - 95,603,014UniSTS
Cytogenetic Map7q22UniSTS
CRA_TCAGchr7v2799,964,465 - 99,964,666UniSTS
D7S3096  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377100,606,155 - 100,606,280UniSTSGRCh37
GRCh377100,554,939 - 100,555,064UniSTSGRCh37
Build 367100,392,875 - 100,393,000RGDNCBI36
Celera795,293,326 - 95,293,451RGD
Celera795,602,892 - 95,603,017UniSTS
Cytogenetic Map7q22UniSTS
CRA_TCAGchr7v2799,964,544 - 99,964,669UniSTS
MUC3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377100,553,076 - 100,553,315UniSTSGRCh37
Build 367100,391,012 - 100,391,251RGDNCBI36
Celera795,291,461 - 95,291,700RGD
Celera795,601,064 - 95,601,303UniSTS
Cytogenetic Map7q22UniSTS
HuRef795,182,956 - 95,183,195UniSTS
CRA_TCAGchr7v2799,912,681 - 99,912,920UniSTS


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
renal system
reproductive system
respiratory system
sensory system
1204 2424 2769 2213 4777 1703 2267 3 617 1458 460 2212 6761 5956 33 3584 826 1679 1536 170

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_005960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB038782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB038784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC105446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC118759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC254629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF007190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF007193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF007194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF007197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF113616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF143371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF143372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF143373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH005628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY307930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI005786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ411650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ411651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ411652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ411658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ511939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ582414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M55405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M55406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000379458   ⟹   ENSP00000368771
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7100,949,534 - 100,968,347 (+)Ensembl
Ensembl Acc Id: ENST00000414964   ⟹   ENSP00000393306
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7100,957,965 - 100,967,890 (+)Ensembl
Ensembl Acc Id: ENST00000483366   ⟹   ENSP00000483541
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7100,949,625 - 100,967,308 (+)Ensembl
Ensembl Acc Id: ENST00000614399
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7100,966,238 - 100,967,746 (+)Ensembl
RefSeq Acc Id: NM_005960   ⟹   NP_005951
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387100,949,534 - 100,968,347 (+)NCBI
CHM1_17100,477,676 - 100,541,653 (+)NCBI
T2T-CHM13v2.07102,189,627 - 102,215,508 (+)NCBI
Sequence:
RefSeq Acc Id: NP_005951   ⟸   NM_005960
- Peptide Label: precursor
- UniProtKB: Q9UN95 (UniProtKB/Swiss-Prot),   Q9UN94 (UniProtKB/Swiss-Prot),   Q9UN93 (UniProtKB/Swiss-Prot),   Q9UKW9 (UniProtKB/Swiss-Prot),   Q9H3Q7 (UniProtKB/Swiss-Prot),   Q6W763 (UniProtKB/Swiss-Prot),   Q02506 (UniProtKB/Swiss-Prot),   O43421 (UniProtKB/Swiss-Prot),   O43418 (UniProtKB/Swiss-Prot),   O14651 (UniProtKB/Swiss-Prot),   O14650 (UniProtKB/Swiss-Prot),   A6NP22 (UniProtKB/Swiss-Prot),   Q02505 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000393306   ⟸   ENST00000414964
Ensembl Acc Id: ENSP00000368771   ⟸   ENST00000379458
Ensembl Acc Id: ENSP00000483541   ⟸   ENST00000483366
Protein Domains
EGF-like   SEA

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q02505-F1-model_v2 AlphaFold Q02505 1-1400 view protein structure
AF-Q02505-F2-model_v2 AlphaFold Q02505 201-1600 view protein structure
AF-Q02505-F3-model_v2 AlphaFold Q02505 401-1800 view protein structure
AF-Q02505-F4-model_v2 AlphaFold Q02505 601-2000 view protein structure
AF-Q02505-F5-model_v2 AlphaFold Q02505 801-2200 view protein structure
AF-Q02505-F6-model_v2 AlphaFold Q02505 1001-2400 view protein structure
AF-Q02505-F7-model_v2 AlphaFold Q02505 1201-2600 view protein structure
AF-Q02505-F8-model_v2 AlphaFold Q02505 1401-2800 view protein structure
AF-Q02505-F9-model_v2 AlphaFold Q02505 1601-3000 view protein structure
AF-Q02505-F10-model_v2 AlphaFold Q02505 1801-3200 view protein structure
AF-Q02505-F11-model_v2 AlphaFold Q02505 2001-3323 view protein structure

Promoters
RGD ID:6805936
Promoter ID:HG_KWN:58994
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour
Transcripts:ENST00000319509,   ENST00000332750,   OTTHUMT00000347216,   OTTHUMT00000347217,   OTTHUMT00000347218,   UC003UXK.1,   UC003UXL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 367100,388,504 - 100,389,004 (+)MPROMDB
RGD ID:6805937
Promoter ID:HG_KWN:58996
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562
Transcripts:OTTHUMT00000347219,   UC010LHN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 367100,396,051 - 100,396,551 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7513 AgrOrtholog
COSMIC MUC3A COSMIC
Ensembl Genes ENSG00000169894 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000379458 ENTREZGENE
  ENST00000379458.9 UniProtKB/Swiss-Prot
  ENST00000414964.5 UniProtKB/TrEMBL
  ENST00000483366.5 UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.70.960 UniProtKB/TrEMBL
  Laminin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000169894 GTEx
HGNC ID HGNC:7513 ENTREZGENE
Human Proteome Map MUC3A Human Proteome Map
InterPro EGF-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LE_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Mucin_signaling_protection UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SEA_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SEA_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4584 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4584 ENTREZGENE
OMIM 158371 OMIM
PANTHER MUCIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MUCIN-3A-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam SEA UniProtKB/TrEMBL
PharmGKB PA31317 PharmGKB
PROSITE EGF_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_2 UniProtKB/Swiss-Prot
  EGF_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SEA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SEA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF82671 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A182DWF7_HUMAN UniProtKB/TrEMBL
  A6NP22 ENTREZGENE
  I0EZ65_HUMAN UniProtKB/TrEMBL
  I0EZ66_HUMAN UniProtKB/TrEMBL
  I0EZ67_HUMAN UniProtKB/TrEMBL
  I0EZ73_HUMAN UniProtKB/TrEMBL
  MUC3A_HUMAN UniProtKB/Swiss-Prot
  O14650 ENTREZGENE
  O14651 ENTREZGENE
  O43418 ENTREZGENE
  O43421 ENTREZGENE
  Q02505 ENTREZGENE
  Q02506 ENTREZGENE
  Q6W763 ENTREZGENE
  Q9H3Q6_HUMAN UniProtKB/TrEMBL
  Q9H3Q7 ENTREZGENE
  Q9UKW9 ENTREZGENE
  Q9UN93 ENTREZGENE
  Q9UN94 ENTREZGENE
  Q9UN95 ENTREZGENE
UniProt Secondary A6NP22 UniProtKB/Swiss-Prot
  O14650 UniProtKB/Swiss-Prot
  O14651 UniProtKB/Swiss-Prot
  O43418 UniProtKB/Swiss-Prot
  O43421 UniProtKB/Swiss-Prot
  Q02506 UniProtKB/Swiss-Prot
  Q6W763 UniProtKB/Swiss-Prot
  Q9H3Q7 UniProtKB/Swiss-Prot
  Q9UKW9 UniProtKB/Swiss-Prot
  Q9UN93 UniProtKB/Swiss-Prot
  Q9UN94 UniProtKB/Swiss-Prot
  Q9UN95 UniProtKB/Swiss-Prot