ACVR1C (activin A receptor type 1C) - Rat Genome Database
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Gene: ACVR1C (activin A receptor type 1C) Homo sapiens
Analyze
Symbol: ACVR1C
Name: activin A receptor type 1C
RGD ID: 734123
HGNC Page HGNC
Description: Exhibits activin receptor activity, type I; growth factor binding activity; and nodal binding activity. Involved in several processes, including negative regulation of chorionic trophoblast cell proliferation; negative regulation of trophoblast cell migration; and trophectodermal cell proliferation. Localizes to activin receptor complex.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: activin A receptor type IC; activin A receptor, type IC; activin receptor type IC; activin receptor type-1C; activin receptor-like kinase 7; ACTR-IC; ACVRLK7; ALK-7; ALK7
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2157,526,767 - 157,628,864 (-)EnsemblGRCh38hg38GRCh38
GRCh382157,526,767 - 157,628,864 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372158,383,279 - 158,485,376 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362158,097,150 - 158,193,645 (-)NCBINCBI36hg18NCBI36
Build 342158,214,411 - 158,310,902NCBI
Celera2151,996,398 - 152,098,507 (-)NCBI
Cytogenetic Map2q24.1NCBI
HuRef2150,268,922 - 150,370,677 (-)NCBIHuRef
CHM1_12158,389,261 - 158,491,360 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:11485994   PMID:12063393   PMID:12477932   PMID:12606401   PMID:15107418   PMID:15150278   PMID:15196700   PMID:15489334   PMID:15531507   PMID:15815621   PMID:16603637   PMID:18480259  
PMID:18784254   PMID:18951876   PMID:19275893   PMID:20734064   PMID:21356369   PMID:21805089   PMID:21873635   PMID:22086737   PMID:22939624   PMID:23284306   PMID:23765385   PMID:23793810  
PMID:25241761   PMID:26289399   PMID:26406402   PMID:26836979   PMID:30012586   PMID:30367833   PMID:30401983   PMID:31063757   PMID:31489365  


Genomics

Candidate Gene Status
ACVR1C is a candidate Gene for QTL BW133_H
Comparative Map Data
ACVR1C
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2157,526,767 - 157,628,864 (-)EnsemblGRCh38hg38GRCh38
GRCh382157,526,767 - 157,628,864 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372158,383,279 - 158,485,376 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362158,097,150 - 158,193,645 (-)NCBINCBI36hg18NCBI36
Build 342158,214,411 - 158,310,902NCBI
Celera2151,996,398 - 152,098,507 (-)NCBI
Cytogenetic Map2q24.1NCBI
HuRef2150,268,922 - 150,370,677 (-)NCBIHuRef
CHM1_12158,389,261 - 158,491,360 (-)NCBICHM1_1
Acvr1c
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39258,157,465 - 58,247,909 (-)NCBIGRCm39mm39
GRCm39 Ensembl258,157,465 - 58,247,907 (-)Ensembl
GRCm38258,267,453 - 58,357,896 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl258,267,453 - 58,357,895 (-)EnsemblGRCm38mm10GRCm38
MGSCv37258,119,864 - 58,210,169 (-)NCBIGRCm37mm9NCBIm37
MGSCv36258,087,208 - 58,140,193 (-)NCBImm8
Celera260,022,538 - 60,113,847 (-)NCBICelera
Cytogenetic Map2C1.1NCBI
Acvr1c
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2342,815,490 - 42,892,423 (-)NCBI
Rnor_6.0 Ensembl344,270,653 - 44,342,355 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0344,272,859 - 44,342,501 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0349,392,012 - 49,462,621 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4340,027,228 - 40,102,303 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1339,923,599 - 39,998,675 (-)NCBI
Celera340,890,441 - 40,959,920 (-)NCBICelera
Cytogenetic Map3q21NCBI
Acvr1c
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544915,813,856 - 15,858,537 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495544915,814,230 - 15,864,747 (+)NCBIChiLan1.0ChiLan1.0
ACVR1C
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12B162,027,016 - 162,080,583 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B162,034,161 - 162,124,151 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02B44,785,808 - 44,883,977 (-)NCBIMhudiblu_PPA_v0panPan3
ACVR1C
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl363,541,248 - 3,613,384 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1363,534,231 - 3,583,310 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Acvr1c
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_00493646920,892,715 - 20,964,674 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ACVR1C
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1564,455,989 - 64,529,107 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11564,452,632 - 64,529,329 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21571,381,954 - 71,455,690 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ACVR1C
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11042,935,085 - 43,030,581 (-)NCBI
ChlSab1.1 Ensembl1042,942,284 - 42,994,488 (-)Ensembl
Acvr1c
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247328,130,970 - 8,247,528 (+)NCBI

Position Markers
SHGC-145176  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372158,396,822 - 158,397,164UniSTSGRCh37
Build 362158,105,068 - 158,105,410RGDNCBI36
Celera2152,009,941 - 152,010,283RGD
Cytogenetic Map2q24.1UniSTS
HuRef2150,282,464 - 150,282,806UniSTS
TNG Radiation Hybrid Map289931.0UniSTS
SHGC-156123  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372158,432,111 - 158,432,417UniSTSGRCh37
Build 362158,140,357 - 158,140,663RGDNCBI36
Celera2152,045,222 - 152,045,528RGD
Cytogenetic Map2q24.1UniSTS
HuRef2150,317,723 - 150,318,029UniSTS
TNG Radiation Hybrid Map289944.0UniSTS
BZ943404  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372158,436,939 - 158,437,076UniSTSGRCh37
Build 362158,145,185 - 158,145,322RGDNCBI36
Celera2152,050,054 - 152,050,191RGD
HuRef2150,322,226 - 150,322,363UniSTS
D1S3697  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q12UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map3p21.31-p21.2UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map1p36.13UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR376Bhsa-miR-376b-3pMirtarbaseexternal_infoLuciferase reporter assay//Reporter assay;Western Non-Functional MTI21224400
MIR376Bhsa-miR-376b-3pTarbaseexternal_infoReporter GeneNEGATIVE
MIR376Bhsa-miR-376b-3pTarbaseexternal_infoWesternblitPOSITIVE
MIR376A2hsa-miR-376a-3pMirtarbaseexternal_infoLuciferase reporter assay//Reporter assay;Western Non-Functional MTI21224400
MIR376A2hsa-miR-376a-3pTarbaseexternal_infoReporter GeneNEGATIVE
MIR376A2hsa-miR-376a-3pTarbaseexternal_infoWesternblitPOSITIVE
MIR412hsa-miR-412-3pMirtarbaseexternal_infoLuciferase reporter assay//Reporter assayNon-Functional MTI21224400
MIR412hsa-miR-412-5pTarbaseexternal_infoReporter GeneNEGATIVE
MIR147Ahsa-miR-147aMirtarbaseexternal_infoLuciferase reporter assay//Reporter assayNon-Functional MTI21224400
MIR147Ahsa-miR-147aTarbaseexternal_infoReporter GeneNEGATIVE
MIR122hsa-miR-122-5pMirtarbaseexternal_infoLuciferase reporter assay//Reporter assayNon-Functional MTI21224400
MIR122hsa-miR-122-5pTarbaseexternal_infoReporter GeneNEGATIVE
MIR376A1hsa-miR-376a-5pMirtarbaseexternal_infoLuciferase reporter assay//Reporter assay;Western Non-Functional MTI21224400
MIR376A1hsa-miR-376a-5pTarbaseexternal_infoReporter GeneNEGATIVE
MIR376A1hsa-miR-376a-5pTarbaseexternal_infoWesternblitPOSITIVE
MIR376A1hsa-miR-376a-3pMirtarbaseexternal_infoLuciferase reporter assay//Reporter assay;Western Non-Functional MTI21224400
MIR376A1hsa-miR-376a-3pTarbaseexternal_infoReporter GeneNEGATIVE
MIR376A1hsa-miR-376a-3pTarbaseexternal_infoWesternblitPOSITIVE
MIR22hsa-miR-22-3pMirtarbaseexternal_infoLuciferase reporter assay//Western blot//Reporter Non-Functional MTI21224400
MIR22hsa-miR-22-3pTarbaseexternal_infoReporter GeneNEGATIVE
MIR22hsa-miR-22-3pTarbaseexternal_infoWesternblitPOSITIVE
MIR376Chsa-miR-376c-3pMirtarbaseexternal_infoLuciferase reporter assay//Western blot//Reporter Functional MTI21224400
MIR376Chsa-miR-376c-3pTarbaseexternal_infoReporter GenePOSITIVE
MIR376Chsa-miR-376c-3pTarbaseexternal_infoqPCRNEGATIVE
MIR376Chsa-miR-376c-3pTarbaseexternal_infoWesternblitPOSITIVE
MIR376Chsa-miR-376c-3pOncomiRDBexternal_infoNANA21224400

Predicted Target Of
Summary Value
Count of predictions:3312
Count of miRNA genes:845
Interacting mature miRNAs:1009
Transcripts:ENST00000243349, ENST00000335450, ENST00000348328, ENST00000409680
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.


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 9 8 8 2 318 2 72 5 11 8 544 7
Low 943 677 761 413 272 286 2273 439 3085 81 643 381 139 646 1529
Below cutoff 1460 2217 942 201 1297 171 1757 1722 547 277 758 1193 33 14 1251 4

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001111031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001111032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001111033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_145259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC019186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC079750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF525679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF525680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF525681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW014016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY127050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI601014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS173113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS173115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS173117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000243349   ⟹   ENSP00000243349
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2157,526,767 - 157,628,864 (-)Ensembl
RefSeq Acc Id: ENST00000335450   ⟹   ENSP00000335178
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2157,533,742 - 157,628,727 (-)Ensembl
RefSeq Acc Id: ENST00000348328   ⟹   ENSP00000335139
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2157,533,742 - 157,628,727 (-)Ensembl
RefSeq Acc Id: ENST00000409680   ⟹   ENSP00000387168
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2157,533,742 - 157,597,560 (-)Ensembl
RefSeq Acc Id: NM_001111031   ⟹   NP_001104501
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382157,526,767 - 157,597,560 (-)NCBI
GRCh372158,383,279 - 158,485,399 (-)ENTREZGENE
HuRef2150,268,922 - 150,370,677 (-)ENTREZGENE
CHM1_12158,389,261 - 158,460,022 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001111032   ⟹   NP_001104502
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382157,526,767 - 157,628,864 (-)NCBI
GRCh372158,383,279 - 158,485,399 (-)ENTREZGENE
HuRef2150,268,922 - 150,370,677 (-)ENTREZGENE
CHM1_12158,389,261 - 158,491,360 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001111033   ⟹   NP_001104503
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382157,526,767 - 157,628,864 (-)NCBI
GRCh372158,383,279 - 158,485,399 (-)ENTREZGENE
HuRef2150,268,922 - 150,370,677 (-)ENTREZGENE
CHM1_12158,389,261 - 158,491,360 (-)NCBI
Sequence:
RefSeq Acc Id: NM_145259   ⟹   NP_660302
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382157,526,767 - 157,628,864 (-)NCBI
GRCh372158,383,279 - 158,485,399 (-)ENTREZGENE
Build 362158,097,150 - 158,193,645 (-)NCBI Archive
HuRef2150,268,922 - 150,370,677 (-)ENTREZGENE
CHM1_12158,389,261 - 158,491,360 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001104503   ⟸   NM_001111033
- Peptide Label: isoform 4 precursor
- UniProtKB: Q8NER5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001104502   ⟸   NM_001111032
- Peptide Label: isoform 3 precursor
- UniProtKB: Q8NER5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_660302   ⟸   NM_145259
- Peptide Label: isoform 1 precursor
- UniProtKB: Q8NER5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001104501   ⟸   NM_001111031
- Peptide Label: isoform 2
- UniProtKB: Q8NER5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000335139   ⟸   ENST00000348328
RefSeq Acc Id: ENSP00000335178   ⟸   ENST00000335450
RefSeq Acc Id: ENSP00000243349   ⟸   ENST00000243349
RefSeq Acc Id: ENSP00000387168   ⟸   ENST00000409680
Protein Domains
GS   Protein kinase

Promoters
RGD ID:6861798
Promoter ID:EPDNEW_H4064
Type:initiation region
Name:ACVR1C_1
Description:activin A receptor type 1C
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4065  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382157,628,632 - 157,628,692EPDNEW
RGD ID:6861800
Promoter ID:EPDNEW_H4065
Type:initiation region
Name:ACVR1C_2
Description:activin A receptor type 1C
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4064  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382157,628,864 - 157,628,924EPDNEW
RGD ID:6796733
Promoter ID:HG_KWN:35512
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:NM_001111032,   NM_001111033,   OTTHUMT00000254924
Position:
Human AssemblyChrPosition (strand)Source
Build 362158,193,251 - 158,193,751 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3 copy number gain See cases [RCV000052950] Chr2:154366788..167048902 [GRCh38]
Chr2:155223300..167905412 [GRCh37]
Chr2:154931546..167613658 [NCBI36]
Chr2:2q24.1-24.3
pathogenic
GRCh38/hg38 2q22.3-24.1(chr2:147251948-157856378)x1 copy number loss See cases [RCV000054090] Chr2:147251948..157856378 [GRCh38]
Chr2:148009516..158712890 [GRCh37]
Chr2:147725986..158421136 [NCBI36]
Chr2:2q22.3-24.1
pathogenic
GRCh38/hg38 2q23.1-24.3(chr2:148917286-163204623)x1 copy number loss See cases [RCV000054093] Chr2:148917286..163204623 [GRCh38]
Chr2:149674855..164061133 [GRCh37]
Chr2:149391325..163769379 [NCBI36]
Chr2:2q23.1-24.3
pathogenic
NM_001111031.1(ACVR1C):c.375C>T (p.Thr125=) single nucleotide variant Malignant melanoma [RCV000060358] Chr2:157556112 [GRCh38]
Chr2:158412624 [GRCh37]
Chr2:158120870 [NCBI36]
Chr2:2q24.1
not provided
NM_001111031.1(ACVR1C):c.374C>T (p.Thr125Ile) single nucleotide variant Malignant melanoma [RCV000060359] Chr2:157556113 [GRCh38]
Chr2:158412625 [GRCh37]
Chr2:158120871 [NCBI36]
Chr2:2q24.1
not provided
NM_001111031.1(ACVR1C):c.1266C>G (p.Arg422=) single nucleotide variant Malignant melanoma [RCV000065130] Chr2:157533984 [GRCh38]
Chr2:158390496 [GRCh37]
Chr2:158098742 [NCBI36]
Chr2:2q24.1
not provided
GRCh38/hg38 2q22.3-24.1(chr2:143900149-158321624)x3 copy number gain See cases [RCV000135402] Chr2:143900149..158321624 [GRCh38]
Chr2:144657717..159178136 [GRCh37]
Chr2:144374187..158886382 [NCBI36]
Chr2:2q22.3-24.1
pathogenic
GRCh38/hg38 2q24.1(chr2:157418173-158277521)x1 copy number loss See cases [RCV000142260] Chr2:157418173..158277521 [GRCh38]
Chr2:158274685..159134033 [GRCh37]
Chr2:157982931..158842279 [NCBI36]
Chr2:2q24.1
uncertain significance
GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3 copy number gain See cases [RCV000142286] Chr2:154294042..175989372 [GRCh38]
Chr2:155150555..176854100 [GRCh37]
Chr2:154858801..176562346 [NCBI36]
Chr2:2q24.1-31.1
pathogenic
GRCh38/hg38 2q23.3-24.1(chr2:153609714-158185125)x1 copy number loss See cases [RCV000142963] Chr2:153609714..158185125 [GRCh38]
Chr2:154466227..159041637 [GRCh37]
Chr2:154174473..158749883 [NCBI36]
Chr2:2q23.3-24.1
pathogenic
GRCh38/hg38 2q23.3-24.2(chr2:151932344-159419734)x1 copy number loss See cases [RCV000142664] Chr2:151932344..159419734 [GRCh38]
Chr2:152788858..160276245 [GRCh37]
Chr2:152497104..159984491 [NCBI36]
Chr2:2q23.3-24.2
pathogenic|likely pathogenic
Single allele deletion Autism spectrum disorder [RCV000225489] Chr2:154507239..157810705 [GRCh38]
Chr2:155363751..158667217 [GRCh37]
Chr2:2q24.1
likely pathogenic
GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3 copy number gain See cases [RCV000239848] Chr2:156489430..182921298 [GRCh37]
Chr2:2q24.1-31.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q24.1(chr2:158430625-158488203)x1 copy number loss See cases [RCV000445848] Chr2:158430625..158488203 [GRCh37]
Chr2:2q24.1
likely benign
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1 copy number loss PARP Inhibitor response [RCV000626436] Chr2:104172062..168223828 [GRCh37]
Chr2:2q12.1-24.3
drug response
GRCh37/hg19 2q24.1-24.3(chr2:157970774-169270675)x1 copy number loss See cases [RCV000512264] Chr2:157970774..169270675 [GRCh37]
Chr2:2q24.1-24.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q23.3-31.2(chr2:152409978-179325736)x3 copy number gain not provided [RCV000740654] Chr2:152409978..179325736 [GRCh37]
Chr2:2q23.3-31.2
pathogenic
NM_145259.3(ACVR1C):c.114= (p.Phe38=) variation not provided [RCV000948214] Chr2:157587377 [GRCh38]
Chr2:158443889 [GRCh37]
Chr2:2q24.1
benign
NM_145259.3(ACVR1C):c.795A>G (p.Gln265=) single nucleotide variant not provided [RCV000964876] Chr2:157544593 [GRCh38]
Chr2:158401105 [GRCh37]
Chr2:2q24.1
benign
NM_145259.3(ACVR1C):c.1350T>C (p.Ser450=) single nucleotide variant not provided [RCV000885592] Chr2:157538579 [GRCh38]
Chr2:158395091 [GRCh37]
Chr2:2q24.1
likely benign
NM_145259.3(ACVR1C):c.448A>C (p.Asn150His) single nucleotide variant not provided [RCV000961117] Chr2:157556189 [GRCh38]
Chr2:158412701 [GRCh37]
Chr2:2q24.1
benign
NM_145259.3(ACVR1C):c.843T>C (p.Tyr281=) single nucleotide variant not provided [RCV000912316] Chr2:157544545 [GRCh38]
Chr2:158401057 [GRCh37]
Chr2:2q24.1
benign
NM_145259.3(ACVR1C):c.600A>C (p.Ile200=) single nucleotide variant not provided [RCV000955971] Chr2:157550337 [GRCh38]
Chr2:158406849 [GRCh37]
Chr2:2q24.1
benign
GRCh37/hg19 2q24.1(chr2:157117939-158422574)x1 copy number loss not provided [RCV001005344] Chr2:157117939..158422574 [GRCh37]
Chr2:2q24.1
likely pathogenic
GRCh37/hg19 2q24.1(chr2:157873775-158514510)x3 copy number gain See cases [RCV001007414] Chr2:157873775..158514510 [GRCh37]
Chr2:2q24.1
uncertain significance
GRCh37/hg19 2q24.1(chr2:156696086-159450561)x1 copy number loss not provided [RCV001259776] Chr2:156696086..159450561 [GRCh37]
Chr2:2q24.1
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18123 AgrOrtholog
COSMIC ACVR1C COSMIC
Ensembl Genes ENSG00000123612 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000243349 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000335139 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000335178 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000387168 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000243349 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000335450 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000348328 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000409680 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000123612 GTEx
HGNC ID HGNC:18123 ENTREZGENE
Human Proteome Map ACVR1C Human Proteome Map
InterPro Activin_recp UniProtKB/Swiss-Prot
  GS_dom UniProtKB/Swiss-Prot
  Kinase-like_dom_sf UniProtKB/Swiss-Prot
  Prot_kinase_dom UniProtKB/Swiss-Prot
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot
  Ser-Thr/Tyr_kinase_cat_dom UniProtKB/Swiss-Prot
  Ser/Thr_kinase_AS UniProtKB/Swiss-Prot
  TGFB_receptor UniProtKB/Swiss-Prot
KEGG Report hsa:130399 UniProtKB/Swiss-Prot
NCBI Gene 130399 ENTREZGENE
OMIM 608981 OMIM
PANTHER PTHR23255 UniProtKB/Swiss-Prot
Pfam Activin_recp UniProtKB/Swiss-Prot
  Pkinase_Tyr UniProtKB/Swiss-Prot
  TGF_beta_GS UniProtKB/Swiss-Prot
PharmGKB PA134908988 PharmGKB
PROSITE PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot
  PROTEIN_KINASE_ST UniProtKB/Swiss-Prot
  PS51256 UniProtKB/Swiss-Prot
SMART S_TKc UniProtKB/Swiss-Prot
  SM00467 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF56112 UniProtKB/Swiss-Prot
UniProt ACV1C_HUMAN UniProtKB/Swiss-Prot
  Q53SF5_HUMAN UniProtKB/TrEMBL
  Q8NER5 ENTREZGENE
UniProt Secondary Q4ZFZ8 UniProtKB/Swiss-Prot
  Q86UL1 UniProtKB/Swiss-Prot
  Q86UL2 UniProtKB/Swiss-Prot
  Q8TBG2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-14 ACVR1C  activin A receptor type 1C  ACVR1C  activin A receptor type IC  Symbol and/or name change 5135510 APPROVED
2015-11-10 ACVR1C  activin A receptor type IC  ACVR1C  activin A receptor, type IC  Symbol and/or name change 5135510 APPROVED