Human Gene INHBC (uc001snv.1)
  Description: Homo sapiens inhibin, beta C (INHBC), mRNA.
RefSeq Summary (NM_005538): This gene encodes a member of the TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate a subunit of homodimeric and heterodimeric activin complexes. The heterodimeric complex may function in the inhibition of activin A signaling. Transgenic mice overexpressing this gene exhibit defects in testis, liver and prostate. [provided by RefSeq, Aug 2016]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
Transcript (Including UTRs)
   Position: hg19 chr12:57,828,543-57,844,609 Size: 16,067 Total Exon Count: 2 Strand: +
Coding Region
   Position: hg19 chr12:57,828,670-57,843,805 Size: 15,136 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:57,828,543-57,844,609)mRNA (may differ from genome)Protein (352 aa)
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OMIMPubMedReactomeTreefamUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: INHBC_HUMAN
DESCRIPTION: RecName: Full=Inhibin beta C chain; AltName: Full=Activin beta-C chain; Flags: Precursor;
FUNCTION: Inhibins and activins inhibit and activate, respectively, the secretion of follitropin by the pituitary gland. Inhibins/activins are involved in regulating a number of diverse functions such as hypothalamic and pituitary hormone secretion, gonadal hormone secretion, germ cell development and maturation, erythroid differentiation, insulin secretion, nerve cell survival, embryonic axial development or bone growth, depending on their subunit composition. Inhibins appear to oppose the functions of activins.
SUBUNIT: Homodimeric or heterodimeric through association with alpha and beta subunits, linked by one or more disulfide bonds. Inhibins are heterodimers of one alpha and one beta subunit. Activins are homo- or heterodimers of beta subunits only (By similarity).
SUBCELLULAR LOCATION: Secreted (By similarity).
TISSUE SPECIFICITY: Expressed in benign prostatic hyperplasia.
SIMILARITY: Belongs to the TGF-beta family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): INHBC
CDC HuGE Published Literature: INHBC
Positive Disease Associations: Macular Degeneration
Related Studies:
  1. Macular Degeneration
    , , . [PubMed 0]

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 25.47 RPKM in Liver
Total median expression: 28.88 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -40.50127-0.319 Picture PostScript Text
3' UTR -225.87804-0.281 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001318 - Inhibin_betaC
IPR001839 - TGF-b_C
IPR001111 - TGF-b_N
IPR015615 - TGF-beta-rel
IPR017948 - TGFb_CS

Pfam Domains:
PF00019 - Transforming growth factor beta like domain

SCOP Domains:
57501 - Cystine-knot cytokines

ModBase Predicted Comparative 3D Structure on P55103
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005125 cytokine activity
GO:0005160 transforming growth factor beta receptor binding
GO:0005179 hormone activity
GO:0008083 growth factor activity

Biological Process:
GO:0010469 regulation of receptor activity
GO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylation
GO:0042981 regulation of apoptotic process
GO:0043408 regulation of MAPK cascade
GO:0048468 cell development
GO:0060395 SMAD protein signal transduction

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space


-  Descriptions from all associated GenBank mRNAs
  AK314849 - Homo sapiens cDNA, FLJ95746, highly similar to Homo sapiens inhibin, beta C (INHBC), mRNA.
BC020693 - Homo sapiens cDNA clone IMAGE:4723762.
X82540 - H.sapiens mRNA for activin beta-C chain.
BC130324 - Homo sapiens inhibin, beta C, mRNA (cDNA clone MGC:163196 IMAGE:40146355), complete cds.
BC130326 - Homo sapiens inhibin, beta C, mRNA (cDNA clone MGC:163198 IMAGE:40146357), complete cds.
JD467558 - Sequence 448582 from Patent EP1572962.
AB590801 - Synthetic construct DNA, clone: pFN21AE1834, Homo sapiens INHBC gene for inhibin, beta C, without stop codon, in Flexi system.
KJ891478 - Synthetic construct Homo sapiens clone ccsbBroadEn_00872 INHBC gene, encodes complete protein.
JD486772 - Sequence 467796 from Patent EP1572962.
JD226321 - Sequence 207345 from Patent EP1572962.
DQ588265 - Homo sapiens piRNA piR-55377, complete sequence.
JD321687 - Sequence 302711 from Patent EP1572962.
JD248115 - Sequence 229139 from Patent EP1572962.
JD516859 - Sequence 497883 from Patent EP1572962.
JD562279 - Sequence 543303 from Patent EP1572962.
JD566151 - Sequence 547175 from Patent EP1572962.
JD429000 - Sequence 410024 from Patent EP1572962.
JD193672 - Sequence 174696 from Patent EP1572962.
JD444244 - Sequence 425268 from Patent EP1572962.
JD416122 - Sequence 397146 from Patent EP1572962.
JD393791 - Sequence 374815 from Patent EP1572962.
JD519513 - Sequence 500537 from Patent EP1572962.
JD411679 - Sequence 392703 from Patent EP1572962.
JD391243 - Sequence 372267 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04060 - Cytokine-cytokine receptor interaction
hsa04350 - TGF-beta signaling pathway

-  Other Names for This Gene
  Alternate Gene Symbols: A1L3Y2, INHBC_HUMAN, NM_005538, NP_005529, P55103
UCSC ID: uc001snv.1
RefSeq Accession: NM_005538
Protein: P55103 (aka INHBC_HUMAN or IHBC_HUMAN)
CCDS: CCDS8938.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_005538.2
exon count: 2CDS single in 3' UTR: no RNA size: 1990
ORF size: 1059CDS single in intron: no Alignment % ID: 99.95
txCdsPredict score: 2240.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.